#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
RERE	473	broad.mit.edu	37	1	8418644	8418644	+	Silent	SNP	C	C	A	rs11121172|rs386628264	byFrequency	TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr1:8418644C>A	ENST00000337907.3	-	21	4585	c.3951G>T	c.(3949-3951)cgG>cgT	p.R1317R	RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Silent_p.R1317R|RERE_ENST00000377464.1_Silent_p.R1049R|RERE_ENST00000476556.1_Silent_p.R763R	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1317	Arg/Glu-rich (mixed charge).				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R1317R(1)		central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CCCGCAGCTCCCGCTCTCGGA	0.682													A|||	3994	0.797524	0.8638	0.7795	5008	,	,		12531	0.8978		0.669	False		,,,				2504	0.7495					uc001ape.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(3949-3951)CGG>CGT		atrophin-1 like protein isoform a		A	,,	3652,718		1535,582,68	18.0	23.0	21.0		3951,2289,3951	-11.2	0.0	1	dbSNP_120	21	5816,2770		1974,1868,451	no	coding-synonymous,coding-synonymous,coding-synonymous	RERE	NM_001042681.1,NM_001042682.1,NM_012102.3	,,	3509,2450,519	AA,AC,CC		32.2618,16.4302,26.9219	,,	1317/1567,763/1013,1317/1567	8418644	9468,3488	2185	4293	6478	SO:0001819	synonymous_variant	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8418644C>A	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.3951G>T	1.37:g.8418644C>A						RERE_uc001apf.2_Silent_p.R1317R|RERE_uc001apd.2_Silent_p.R763R	p.R1317R	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	21	4761	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	1317			Arg/Glu-rich (mixed charge).		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Silent	SNP	ENST00000337907.3	37	c.3951G>T	CCDS95.1																																																																																				PASS	0.682	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			3	39	3	39	---	---	---	---
HSPG2	3339	broad.mit.edu	37	1	22200485	22200485	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr1:22200485G>C	ENST00000374695.3	-	29	3755	c.3676C>G	c.(3676-3678)Ctg>Gtg	p.L1226V		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1226	Laminin EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00460}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.L1226V(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	TCTGTGTCCAGAAAACAAGTG	0.637																																						uc001bfj.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9						c.(3676-3678)CTG>GTG		heparan sulfate proteoglycan 2 precursor	Becaplermin(DB00102)|Palifermin(DB00039)						61.0	53.0	56.0					1																	22200485		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22200485G>C	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.3676C>G	1.37:g.22200485G>C	ENSP00000363827:p.Leu1226Val					HSPG2_uc009vqd.2_Missense_Mutation_p.L1227V	p.L1226V	NM_005529	NP_005520	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	29	3716	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	1226			Laminin EGF-like 7.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.3676C>G	CCDS30625.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.85|16.85	3.236339|3.236339	0.58886|0.58886	.|.	.|.	ENSG00000142798|ENSG00000142798	ENST00000374695|ENST00000427897	T|.	0.61859|.	0.07|.	5.49|5.49	4.58|4.58	0.56647|0.56647	EGF-like, laminin (3);|.	0.000000|.	0.31577|.	N|.	0.007410|.	T|T	0.56187|0.56187	0.1968|0.1968	L|L	0.48174|0.48174	1.505|1.505	0.39843|0.39843	D|D	0.973137|0.973137	D|.	0.63046|.	0.992|.	D|.	0.76071|.	0.987|.	T|T	0.55604|0.55604	-0.8115|-0.8115	10|5	0.42905|.	T|.	0.14|.	.|.	8.5596|8.5596	0.33503|0.33503	0.1751:0.0:0.8249:0.0|0.1751:0.0:0.8249:0.0	.|.	1226|.	P98160|.	PGBM_HUMAN|.	V|C	1226|80	ENSP00000363827:L1226V|.	ENSP00000363827:L1226V|.	L|S	-|-	1|2	2|0	HSPG2|HSPG2	22073072|22073072	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	1.688000|1.688000	0.37690|0.37690	1.320000|1.320000	0.45209|0.45209	0.407000|0.407000	0.27541|0.27541	CTG|TCT		PASS	0.637	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		3	16	3	16	---	---	---	---
LUZP1	7798	broad.mit.edu	37	1	23419764	23419764	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr1:23419764T>G	ENST00000302291.4	-	4	1792	c.991A>C	c.(991-993)Aat>Cat	p.N331H	LUZP1_ENST00000314174.5_Missense_Mutation_p.N331H|LUZP1_ENST00000418342.1_Missense_Mutation_p.N331H|LUZP1_ENST00000374623.3_Missense_Mutation_p.N331H			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	331					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)		p.N331H(1)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TTGTTTTTATTTTGTTCACTT	0.343																																						uc001bgk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(991-993)AAT>CAT		leucine zipper protein 1							132.0	132.0	132.0					1																	23419764		2203	4300	6503	SO:0001583	missense	7798					nucleus		g.chr1:23419764T>G	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.991A>C	1.37:g.23419764T>G	ENSP00000303758:p.Asn331His					LUZP1_uc010odv.1_Missense_Mutation_p.N331H|LUZP1_uc001bgl.2_Missense_Mutation_p.N331H|LUZP1_uc001bgm.1_Missense_Mutation_p.N331H	p.N331H	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	4	1375	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	331			Potential.		Q5TH93|Q8N4X3|Q8TEH1	Missense_Mutation	SNP	ENST00000302291.4	37	c.991A>C	CCDS30628.1	.	.	.	.	.	.	.	.	.	.	T	19.37	3.815157	0.70912	.	.	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291;ENST00000314174	T;T;T;T	0.16324	2.56;2.56;2.56;2.35	6.08	6.08	0.98989	.	0.000000	0.51477	D	0.000081	T	0.40862	0.1134	M	0.66939	2.045	0.43430	D	0.995598	D;D	0.89917	1.0;1.0	D;D	0.68943	0.961;0.961	T	0.19943	-1.0290	10	0.87932	D	0	.	15.825	0.78698	0.0:0.0:0.0:1.0	.	331;331	Q86V48-2;Q86V48	.;LUZP1_HUMAN	H	331	ENSP00000393460:N331H;ENSP00000363752:N331H;ENSP00000303758:N331H;ENSP00000313705:N331H	ENSP00000303758:N331H	N	-	1	0	LUZP1	23292351	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.970000	0.70431	2.333000	0.79357	0.533000	0.62120	AAT		PASS	0.343	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	NM_033631		38	259	38	259	---	---	---	---
CSMD2	114784	broad.mit.edu	37	1	34190152	34190152	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr1:34190152T>C	ENST00000373381.4	-	18	3025	c.2849A>G	c.(2848-2850)aAc>aGc	p.N950S		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	910	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.N910S(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)				CCACTGGAAGTTGGGCTCACA	0.597																																						uc001bxn.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(5)|pancreas(1)	12						c.(2728-2730)AAC>AGC		CUB and Sushi multiple domains 2							54.0	55.0	55.0					1																	34190152		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34190152T>C	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.2849A>G	1.37:g.34190152T>C	ENSP00000362479:p.Asn950Ser					CSMD2_uc001bxm.1_Missense_Mutation_p.N950S	p.N910S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			18	2758	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	910			Sushi 5.|Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.2729A>G		.	.	.	.	.	.	.	.	.	.	T	27.5	4.836426	0.91117	.	.	ENSG00000121904	ENST00000373381	T	0.66638	-0.22	5.74	5.74	0.90152	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.66479	0.2793	N	0.21617	0.685	0.80722	D	1	P;P	0.42337	0.774;0.776	P;P	0.52646	0.705;0.562	T	0.69087	-0.5238	10	0.52906	T	0.07	.	15.2162	0.73267	0.0:0.0:0.0:1.0	.	910;950	Q7Z408;E7EUA6	CSMD2_HUMAN;.	S	950	ENSP00000362479:N950S	ENSP00000241312:N910S	N	-	2	0	CSMD2	33962739	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.040000	0.89188	2.186000	0.69663	0.533000	0.62120	AAC		PASS	0.597	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		3	71	3	71	---	---	---	---
ZMYM6	9204	broad.mit.edu	37	1	35480744	35480744	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr1:35480744C>G	ENST00000357182.4	-	5	675	c.448G>C	c.(448-450)Gat>Cat	p.D150H	ZMYM6_ENST00000373340.2_Missense_Mutation_p.D150H|ZMYM6_ENST00000487874.1_Missense_Mutation_p.D150H|ZMYM6_ENST00000493328.1_5'UTR	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	150					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.D150H(1)		breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				GTGATCACATCCTTAGGATTT	0.338																																						uc001byh.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(448-450)GAT>CAT		zinc finger protein 258							49.0	47.0	48.0					1																	35480744		2203	4300	6503	SO:0001583	missense	9204				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chr1:35480744C>G	AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"""Zinc fingers, MYM type"", ""Zinc fingers, BED-type"""	13050	protein-coding gene	gene with protein product	"""zinc finger, BED-type containing 7"""	613567	"""zinc finger protein 258"", ""zinc finger, MYM-type containing 6"""	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.448G>C	1.37:g.35480744C>G	ENSP00000349708:p.Asp150His					ZMYM6_uc001byf.1_Missense_Mutation_p.D150H|ZMYM6_uc010oht.1_Missense_Mutation_p.D53H|ZMYM6_uc009vup.2_5'UTR|ZMYM6_uc009vuq.1_Missense_Mutation_p.D150H|ZMYM6_uc009vur.1_5'UTR	p.D150H	NM_007167	NP_009098	O95789	ZMYM6_HUMAN			5	676	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)	150			MYM-type 1.		B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Missense_Mutation	SNP	ENST00000357182.4	37	c.448G>C	CCDS387.2	.	.	.	.	.	.	.	.	.	.	C	16.65	3.182863	0.57800	.	.	ENSG00000163867	ENST00000373340;ENST00000357182;ENST00000415531	T;T;T	0.37058	1.68;2.81;1.22	4.27	1.28	0.21552	TRASH (1);Zinc finger, MYM-type (1);	0.117118	0.56097	D	0.000035	T	0.54759	0.1878	M	0.77103	2.36	0.51233	D	0.999916	D;D	0.69078	0.997;0.994	D;D	0.69479	0.964;0.935	T	0.55153	-0.8185	10	0.72032	D	0.01	-3.4664	9.5907	0.39543	0.0:0.7655:0.0:0.2345	.	150;150	O95789;O95789-1	ZMYM6_HUMAN;.	H	150	ENSP00000362437:D150H;ENSP00000349708:D150H;ENSP00000391337:D150H	ENSP00000349708:D150H	D	-	1	0	ZMYM6	35253331	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.804000	0.47931	0.174000	0.19809	0.467000	0.42956	GAT		PASS	0.338	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011999.1	NM_007167		3	73	3	73	---	---	---	---
CC2D1B	200014	broad.mit.edu	37	1	52825395	52825395	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr1:52825395C>A	ENST00000371586.2	-	8	1062	c.924G>T	c.(922-924)gaG>gaT	p.E308D	CC2D1B_ENST00000284376.3_Missense_Mutation_p.E308D|CC2D1B_ENST00000438831.1_5'UTR|CC2D1B_ENST00000460261.1_5'UTR	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	308						nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.E308D(1)		breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						TCCTCATGAGCTCTCGGGCAC	0.572																																						uc001ctq.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(922-924)GAG>GAT		coiled-coil and C2 domain containing 1B							30.0	27.0	28.0					1																	52825395		2203	4300	6503	SO:0001583	missense	200014							g.chr1:52825395C>A	AB058739	CCDS30714.1	1p32.3	2008-02-05			ENSG00000154222	ENSG00000154222			29386	protein-coding gene	gene with protein product						11347906	Standard	NM_032449		Approved	KIAA1836	uc001ctq.2	Q5T0F9	OTTHUMG00000008102	ENST00000371586.2:c.924G>T	1.37:g.52825395C>A	ENSP00000360642:p.Glu308Asp					CC2D1B_uc001ctr.2_5'Flank|CC2D1B_uc001cts.2_5'UTR	p.E308D	NM_032449	NP_115825	Q5T0F9	C2D1B_HUMAN			8	1062	-			308					Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	Missense_Mutation	SNP	ENST00000371586.2	37	c.924G>T	CCDS30714.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.81|10.81	1.456765|1.456765	0.26161|0.26161	.|.	.|.	ENSG00000154222|ENSG00000154222	ENST00000371586;ENST00000284376;ENST00000371573|ENST00000438021;ENST00000450942	T;T|.	0.27557|.	1.66;1.66|.	5.13|5.13	1.1|1.1	0.20463|0.20463	Domain of unknown function DM14 (1);|.	0.215445|.	0.40728|.	N|.	0.001024|.	T|T	0.56499|0.56499	0.1989|0.1989	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	B|.	0.19073|.	0.033|.	B|.	0.15484|.	0.013|.	T|T	0.48927|0.48927	-0.8991|-0.8991	10|5	0.18276|.	T|.	0.48|.	-15.4809|-15.4809	4.5636|4.5636	0.12172|0.12172	0.0:0.5107:0.1526:0.3368|0.0:0.5107:0.1526:0.3368	.|.	308|.	Q5T0F9|.	C2D1B_HUMAN|.	D|I	308;308;222|95;228	ENSP00000360642:E308D;ENSP00000284376:E308D|.	ENSP00000284376:E308D|.	E|S	-|-	3|2	2|0	CC2D1B|CC2D1B	52597983|52597983	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.466000|0.466000	0.32739|0.32739	1.263000|1.263000	0.33004|0.33004	0.049000|0.049000	0.15920|0.15920	-0.150000|-0.150000	0.13652|0.13652	GAG|AGC		PASS	0.572	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022189.1	NM_032449		4	14	4	14	---	---	---	---
TYW3	127253	broad.mit.edu	37	1	75204423	75204423	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr1:75204423C>T	ENST00000370867.3	+	3	394	c.305C>T	c.(304-306)cCa>cTa	p.P102L	TYW3_ENST00000479111.1_5'UTR|TYW3_ENST00000457880.2_Intron|TYW3_ENST00000421739.2_Intron	NM_138467.2	NP_612476.1	Q6IPR3	TYW3_HUMAN	tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)	102					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)	p.P102R(1)|p.P102L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1)	15						AAATTTGAACCATTTGTTCTT	0.363																																						uc001dgn.2																			2	Substitution - Missense(2)	p.P102R(1)	ovary(1)|lung(1)	ovary(2)	2						c.(304-306)CCA>CTA		tRNA-yW synthesizing protein 3 homolog isoform							152.0	144.0	147.0					1																	75204423		2203	4300	6503	SO:0001583	missense	127253				tRNA processing		methyltransferase activity	g.chr1:75204423C>T	BX647591	CCDS666.1, CCDS53334.1	1p31.1	2008-02-05	2006-05-25	2006-05-25	ENSG00000162623	ENSG00000162623			24757	protein-coding gene	gene with protein product		611245	"""chromosome 1 open reading frame 171"""	C1orf171		17150819	Standard	NM_138467		Approved	FLJ40918	uc001dgn.3	Q6IPR3	OTTHUMG00000009641	ENST00000370867.3:c.305C>T	1.37:g.75204423C>T	ENSP00000359904:p.Pro102Leu					TYW3_uc010oqw.1_Intron|TYW3_uc010oqx.1_Intron|TYW3_uc010oqy.1_RNA	p.P102L	NM_138467	NP_612476	Q6IPR3	TYW3_HUMAN			3	394	+			102					B4DSP9|E9PGR7|Q5HYJ0|Q8N7L1	Missense_Mutation	SNP	ENST00000370867.3	37	c.305C>T	CCDS666.1	.	.	.	.	.	.	.	.	.	.	C	19.19	3.779530	0.70107	.	.	ENSG00000162623	ENST00000370867	T	0.51574	0.7	6.16	6.16	0.99307	tRNA wybutosine-synthesizing protein (2);	0.044668	0.85682	D	0.000000	T	0.75961	0.3921	H	0.94542	3.55	0.80722	D	1	D	0.71674	0.998	D	0.72075	0.976	T	0.81342	-0.0976	10	0.87932	D	0	-5.4888	19.6313	0.95704	0.0:1.0:0.0:0.0	.	102	Q6IPR3	TYW3_HUMAN	L	102	ENSP00000359904:P102L	ENSP00000359904:P102L	P	+	2	0	TYW3	74977011	1.000000	0.71417	1.000000	0.80357	0.118000	0.20060	6.541000	0.73865	2.937000	0.99478	0.650000	0.86243	CCA		PASS	0.363	TYW3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026573.1	NM_138467		29	75	29	75	---	---	---	---
EPHX4	253152	broad.mit.edu	37	1	92511107	92511107	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr1:92511107T>C	ENST00000370383.4	+	4	592	c.494T>C	c.(493-495)cTt>cCt	p.L165P		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	165						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)	p.L165P(1)		central_nervous_system(1)|large_intestine(3)|lung(8)	12						AAATGTGTTCTTATTGGCCAT	0.373																																					GBM(140;473 1857 5172 22066 49719)	uc001don.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(493-495)CTT>CCT		abhydrolase domain containing 7							201.0	175.0	184.0					1																	92511107		2203	4300	6503	SO:0001583	missense	253152					integral to membrane	hydrolase activity	g.chr1:92511107T>C	AK074822	CCDS736.1	1p22.1	2011-10-05	2009-04-06	2009-04-06	ENSG00000172031	ENSG00000172031		"""Abhydrolase domain containing"""	23758	protein-coding gene	gene with protein product			"""abhydrolase domain containing 7"""	ABHD7		12477932	Standard	NM_173567		Approved	EPHXRP, FLJ90341	uc001don.2	Q8IUS5	OTTHUMG00000010114	ENST00000370383.4:c.494T>C	1.37:g.92511107T>C	ENSP00000359410:p.Leu165Pro						p.L165P	NM_173567	NP_775838	Q8IUS5	EPHX4_HUMAN			4	598	+			165					Q8NCC6	Missense_Mutation	SNP	ENST00000370383.4	37	c.494T>C	CCDS736.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.345040	0.82022	.	.	ENSG00000172031	ENST00000370383	T	0.75050	-0.9	6.03	6.03	0.97812	Alpha/beta hydrolase fold-1 (1);	0.060188	0.64402	D	0.000007	D	0.88934	0.6572	H	0.94345	3.525	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91912	0.5540	10	0.87932	D	0	.	16.5582	0.84512	0.0:0.0:0.0:1.0	.	165	Q8IUS5	EPHX4_HUMAN	P	165	ENSP00000359410:L165P	ENSP00000359410:L165P	L	+	2	0	EPHX4	92283695	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	7.649000	0.83500	2.308000	0.77769	0.533000	0.62120	CTT		PASS	0.373	EPHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027985.1	NM_173567		24	276	24	276	---	---	---	---
BCAR3	8412	broad.mit.edu	37	1	94027879	94027879	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr1:94027879C>G	ENST00000370244.1	-	14	2685	c.2397G>C	c.(2395-2397)gaG>gaC	p.E799D	BCAR3_ENST00000539242.1_Missense_Mutation_p.E475D|BCAR3_ENST00000370243.1_Missense_Mutation_p.E799D|BCAR3_ENST00000370247.3_Missense_Mutation_p.E708D|BCAR3_ENST00000260502.6_Missense_Mutation_p.E799D	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	799	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)	p.E799D(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		TCTCATATCTCTCTGTCTGAT	0.418																																						uc001dpz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|central_nervous_system(1)	3						c.(2395-2397)GAG>GAC		breast cancer antiestrogen resistance 3							163.0	154.0	157.0					1																	94027879		2203	4300	6503	SO:0001583	missense	8412				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:94027879C>G	U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"""SH2 domain containing"""	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.2397G>C	1.37:g.94027879C>G	ENSP00000359264:p.Glu799Asp					BCAR3_uc001dqa.2_Missense_Mutation_p.E799D|BCAR3_uc001dqb.2_Missense_Mutation_p.E799D|BCAR3_uc001dpx.3_Missense_Mutation_p.E475D|BCAR3_uc001dpy.2_Missense_Mutation_p.E708D	p.E799D	NM_003567	NP_003558	O75815	BCAR3_HUMAN		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)	12	2672	-		all_lung(203;0.00145)|Lung NSC(277;0.00662)	799			Ras-GEF.		D3DT43|Q5TEW3|Q6UW40|Q9BR50	Missense_Mutation	SNP	ENST00000370244.1	37	c.2397G>C	CCDS745.1	.	.	.	.	.	.	.	.	.	.	c	11.04	1.522235	0.27211	.	.	ENSG00000137936	ENST00000370247;ENST00000260502;ENST00000370244;ENST00000370243;ENST00000539242	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	5.55	1.61	0.23674	Guanine-nucleotide dissociation stimulator CDC25 (2);	0.225722	0.48286	N	0.000184	T	0.14700	0.0355	L	0.50333	1.59	0.40838	D	0.983647	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.05305	-1.0893	10	0.27785	T	0.31	-20.5221	5.2278	0.15404	0.0:0.459:0.1418:0.3992	.	799;708	O75815;Q5TEW3	BCAR3_HUMAN;.	D	708;799;799;799;475	ENSP00000359267:E708D;ENSP00000260502:E799D;ENSP00000359264:E799D;ENSP00000359263:E799D;ENSP00000441343:E475D	ENSP00000260502:E799D	E	-	3	2	BCAR3	93800467	0.993000	0.37304	0.925000	0.36789	0.658000	0.38924	0.415000	0.21181	0.323000	0.23307	-0.217000	0.12591	GAG		PASS	0.418	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028420.1			63	207	63	207	---	---	---	---
PLPPR4	9890	broad.mit.edu	37	1	99772302	99772302	+	Silent	SNP	G	G	C			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr1:99772302G>C	ENST00000370185.3	+	7	2525	c.2028G>C	c.(2026-2028)ctG>ctC	p.L676L	LPPR4_ENST00000457765.1_Silent_p.L618L|LPPR4_ENST00000370184.1_Silent_p.L518L	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		676					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)	p.L676L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		GTGAGTCTCTGAAAGACAGCT	0.522																																						uc001dse.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(2026-2028)CTG>CTC		plasticity related gene 1							67.0	61.0	63.0					1																	99772302		2203	4300	6503	SO:0001819	synonymous_variant	9890						phosphatidate phosphatase activity	g.chr1:99772302G>C																												ENST00000370185.3:c.2028G>C	1.37:g.99772302G>C						LPPR4_uc010oue.1_Silent_p.L618L	p.L676L	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	7	2134	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	676					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Silent	SNP	ENST00000370185.3	37	c.2028G>C	CCDS757.1																																																																																				PASS	0.522	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			13	41	13	41	---	---	---	---
WDR3	10885	broad.mit.edu	37	1	118491082	118491082	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr1:118491082G>T	ENST00000349139.5	+	13	1524	c.1477G>T	c.(1477-1479)Gat>Tat	p.D493Y		NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	493						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.D493Y(1)		breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		GGAGACAATAGATGCACATGA	0.478																																						uc010oxe.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(1477-1479)GAT>TAT		WD repeat-containing protein 3							120.0	111.0	114.0					1																	118491082		2203	4300	6503	SO:0001583	missense	10885					nuclear membrane|nucleolus		g.chr1:118491082G>T	AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"""WD repeat domain containing"""	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.1477G>T	1.37:g.118491082G>T	ENSP00000308179:p.Asp493Tyr					WDR3_uc001ehi.2_Intron	p.D493Y	NM_006784	NP_006775	Q9UNX4	WDR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)	13	1543	+	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)	493			WD 8.			Missense_Mutation	SNP	ENST00000349139.5	37	c.1477G>T	CCDS898.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.986169	0.53934	.	.	ENSG00000065183	ENST00000349139	T	0.59906	0.23	5.57	4.66	0.58398	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.422804	0.30979	N	0.008487	T	0.41581	0.1165	L	0.31120	0.905	0.80722	D	1	P	0.38110	0.618	P	0.47786	0.557	T	0.50964	-0.8765	10	0.72032	D	0.01	-6.6078	9.9456	0.41607	0.2133:0.0:0.7867:0.0	.	493	Q9UNX4	WDR3_HUMAN	Y	493	ENSP00000308179:D493Y	ENSP00000308179:D493Y	D	+	1	0	WDR3	118292605	1.000000	0.71417	0.168000	0.22838	0.630000	0.37929	4.845000	0.62853	1.353000	0.45828	0.655000	0.94253	GAT		PASS	0.478	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033720.2	NM_006784		12	89	12	89	---	---	---	---
TRIM46	80128	broad.mit.edu	37	1	155148067	155148067	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr1:155148067G>A	ENST00000334634.4	+	2	269	c.269G>A	c.(268-270)cGc>cAc	p.R90H	TRIM46_ENST00000368385.4_Missense_Mutation_p.R90H|TRIM46_ENST00000392451.2_Missense_Mutation_p.R90H|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000368382.1_Missense_Mutation_p.R67H|TRIM46_ENST00000368383.3_Missense_Mutation_p.R90H|TRIM46_ENST00000543729.1_Missense_Mutation_p.R97H|KRTCAP2_ENST00000295682.4_5'Flank|TRIM46_ENST00000545012.1_Intron|KRTCAP2_ENST00000490672.1_5'Flank	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	90						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.R90H(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CGCAGCCCCCGCCTCTCCCGC	0.672																																						uc001fhs.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(268-270)CGC>CAC		tripartite motif-containing 46							34.0	39.0	37.0					1																	155148067		2177	4268	6445	SO:0001583	missense	80128					intracellular	zinc ion binding	g.chr1:155148067G>A		CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19019	protein-coding gene	gene with protein product		600986	"""tripartite motif-containing 46"""				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.269G>A	1.37:g.155148067G>A	ENSP00000334657:p.Arg90His					RAG1AP1_uc010pey.1_Intron|KRTCAP2_uc001fho.2_5'Flank|KRTCAP2_uc001fhp.1_5'Flank|TRIM46_uc009wpe.1_RNA|TRIM46_uc010pez.1_Missense_Mutation_p.R77H|TRIM46_uc001fhq.2_RNA|TRIM46_uc001fhr.2_Missense_Mutation_p.R90H|TRIM46_uc001fht.1_RNA|TRIM46_uc010pfa.1_Intron|TRIM46_uc001fhu.1_Missense_Mutation_p.R67H|TRIM46_uc009wpg.1_Missense_Mutation_p.R77H|TRIM46_uc009wpf.2_Missense_Mutation_p.R77H|TRIM46_uc001fhv.3_Missense_Mutation_p.R77H|TRIM46_uc001fhw.1_RNA	p.R90H	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		2	352	+	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		90					A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Missense_Mutation	SNP	ENST00000334634.4	37	c.269G>A	CCDS1097.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.691490	0.88735	.	.	ENSG00000163462	ENST00000543729;ENST00000430513;ENST00000368385;ENST00000392451;ENST00000368383;ENST00000368382;ENST00000334634	T;T;T;T;T;T	0.60797	0.75;0.47;0.67;0.39;0.16;0.19	4.54	4.54	0.55810	Zinc finger, RING-type (1);	0.000000	0.85682	D	0.000000	T	0.68375	0.2994	M	0.70275	2.135	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.91635	0.991;0.999;0.996;0.98;0.999;0.997	T	0.70029	-0.4984	10	0.46703	T	0.11	.	15.1629	0.72798	0.0:0.0:1.0:0.0	.	77;90;77;67;90;90	F5H5Z2;Q5VT61;B7Z3S2;B1AVQ4;Q7Z4K8;Q7Z4K8-2	.;.;.;.;TRI46_HUMAN;.	H	97;77;90;90;90;67;90	ENSP00000442719:R97H;ENSP00000357369:R90H;ENSP00000376245:R90H;ENSP00000357367:R90H;ENSP00000357366:R67H;ENSP00000334657:R90H	ENSP00000334657:R90H	R	+	2	0	TRIM46	153414691	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	8.724000	0.91462	2.227000	0.72691	0.655000	0.94253	CGC		PASS	0.672	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086728.1	NM_025058		13	54	13	54	---	---	---	---
CADM3	57863	broad.mit.edu	37	1	159163779	159163779	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr1:159163779G>C	ENST00000368125.4	+	5	797	c.640G>C	c.(640-642)Gaa>Caa	p.E214Q	CADM3_ENST00000368124.4_Missense_Mutation_p.E248Q|CTA-134P22.2_ENST00000415675.2_RNA	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	214	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.E248Q(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					TGTGAACCATGAATCTCTAAA	0.498																																						uc001ftl.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(640-642)GAA>CAA		cell adhesion molecule 3 isoform 2							137.0	126.0	130.0					1																	159163779		2203	4300	6503	SO:0001583	missense	57863				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	g.chr1:159163779G>C	AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17601	protein-coding gene	gene with protein product	"""nectin-like 1"""	609743	"""immunoglobulin superfamily, member 4B"""	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.640G>C	1.37:g.159163779G>C	ENSP00000357107:p.Glu214Gln					CADM3_uc009wsy.1_Intron|CADM3_uc001ftk.2_Missense_Mutation_p.E248Q	p.E214Q	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN			5	782	+	all_hematologic(112;0.0429)		214			Ig-like C2-type 1.|Extracellular (Potential).		Q8IZQ9|Q9NVJ5|Q9UJP1	Missense_Mutation	SNP	ENST00000368125.4	37	c.640G>C	CCDS44251.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.107613	0.56291	.	.	ENSG00000162706	ENST00000368124;ENST00000368125	T;T	0.76709	-1.04;-1.04	5.14	4.15	0.48705	Immunoglobulin subtype (1);CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.202881	0.39985	N	0.001201	T	0.71151	0.3306	M	0.66378	2.025	0.37226	D	0.905485	P;P	0.45768	0.866;0.589	P;B	0.48770	0.589;0.164	T	0.69296	-0.5182	10	0.27785	T	0.31	.	10.4196	0.44341	0.1019:0.0:0.8981:0.0	.	214;248	Q8N126;Q8N126-2	CADM3_HUMAN;.	Q	248;214	ENSP00000357106:E248Q;ENSP00000357107:E214Q	ENSP00000357106:E248Q	E	+	1	0	CADM3	157430403	1.000000	0.71417	0.999000	0.59377	0.915000	0.54546	4.587000	0.60991	2.666000	0.90696	0.655000	0.94253	GAA		PASS	0.498	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	NM_021189		20	69	20	69	---	---	---	---
DARS2	55157	broad.mit.edu	37	1	173802512	173802512	+	Splice_Site	SNP	A	A	G			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr1:173802512A>G	ENST00000361951.4	+	6	1219		c.e6-1		DARS2_ENST00000239457.5_Splice_Site	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial						gene expression (GO:0010467)|mitochondrial asparaginyl-tRNA aminoacylation (GO:0070145)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aspartate-tRNA ligase activity (GO:0004815)|aspartate-tRNA(Asn) ligase activity (GO:0050560)|ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)	p.?(1)		breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	CAATTTCTTTAGAAAACAGAG	0.318																																						uc001gjh.1																			1	Unknown(1)		lung(1)	central_nervous_system(2)	2						c.e6-2		aspartyl-tRNA synthetase 2, mitochondrial	L-Aspartic Acid(DB00128)						34.0	33.0	33.0					1																	173802512		2200	4299	6499	SO:0001630	splice_region_variant	55157				tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding	g.chr1:173802512A>G	AK022754	CCDS1311.1	1q25.1	2011-07-01	2007-02-23		ENSG00000117593	ENSG00000117593	6.1.1.12	"""Aminoacyl tRNA synthetases / Class II"""	25538	protein-coding gene	gene with protein product	"""aspartate tRNA ligase 2, mitochondrial"""	610956				15779907	Standard	NM_018122		Approved	FLJ10514	uc001gjh.2	Q6PI48	OTTHUMG00000034803	ENST00000361951.4:c.493-1A>G	1.37:g.173802512A>G							p.K165_splice	NM_018122	NP_060592	Q6PI48	SYDM_HUMAN			6	903	+									Splice_Site	SNP	ENST00000361951.4	37	c.493_splice	CCDS1311.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.105859	0.77096	.	.	ENSG00000117593	ENST00000361951	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1298	0.72514	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DARS2	172069135	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	9.265000	0.95647	2.272000	0.75746	0.459000	0.35465	.		PASS	0.318	DARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084220.1	NM_018122	Intron	6	18	6	18	---	---	---	---
TNN	63923	broad.mit.edu	37	1	175046622	175046622	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr1:175046622C>T	ENST00000239462.4	+	2	181	c.68C>T	c.(67-69)tCg>tTg	p.S23L		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	23					axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)		p.S23L(2)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CTGGTGGCTTCGGCCCCAGCC	0.592																																						uc001gkl.1																			2	Substitution - Missense(2)		lung(1)|skin(1)	large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(67-69)TCG>TTG		tenascin N precursor							45.0	44.0	44.0					1																	175046622		2202	4300	6502	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175046622C>T	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.68C>T	1.37:g.175046622C>T	ENSP00000239462:p.Ser23Leu					TNN_uc010pmx.1_Missense_Mutation_p.S23L	p.S23L	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	2	181	+		Breast(1374;0.000962)	23					B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.68C>T	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.569114	0.45798	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.27256	1.68	4.99	4.99	0.66335	.	0.315081	0.30003	N	0.010645	T	0.45716	0.1356	L	0.53249	1.67	0.09310	N	1	P;D	0.89917	0.938;1.0	B;D	0.79108	0.146;0.992	T	0.25433	-1.0132	10	0.48119	T	0.1	.	15.1249	0.72475	0.0:1.0:0.0:0.0	.	23;23	B3KXB6;Q9UQP3	.;TENN_HUMAN	L	23	ENSP00000239462:S23L	ENSP00000239462:S23L	S	+	2	0	TNN	173313245	0.510000	0.26171	0.064000	0.19789	0.149000	0.21700	2.734000	0.47368	2.600000	0.87896	0.655000	0.94253	TCG		PASS	0.592	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		15	62	15	62	---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186072603	186072603	+	Splice_Site	SNP	G	G	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr1:186072603G>A	ENST00000271588.4	+	69	10802		c.e69-1		HMCN1_ENST00000367492.2_Splice_Site	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1						response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.?(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCTTTAAATAGAACCACCTCA	0.338																																						uc001grq.1																			1	Unknown(1)		lung(1)	ovary(22)|skin(1)	23						c.e69-1		hemicentin 1 precursor							54.0	57.0	56.0					1																	186072603		2203	4298	6501	SO:0001630	splice_region_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186072603G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.10574-1G>A	1.37:g.186072603G>A							p.E3525_splice	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			69	10803	+								A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Splice_Site	SNP	ENST00000271588.4	37	c.10574_splice	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.761652	0.89932	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3079	0.94171	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HMCN1	184339226	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.147000	0.94646	2.550000	0.86006	0.655000	0.94253	.		PASS	0.338	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	Intron	37	113	37	113	---	---	---	---
EXOC8	149371	broad.mit.edu	37	1	231473325	231473325	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr1:231473325G>C	ENST00000360394.2	-	1	253	c.167C>G	c.(166-168)gCg>gGg	p.A56G	SPRTN_ENST00000008440.9_5'Flank|EXOC8_ENST00000366645.1_Missense_Mutation_p.A52G|SPRTN_ENST00000295050.7_5'Flank|SPRTN_ENST00000391858.4_5'UTR	NM_175876.3	NP_787072.2	Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	56					cellular protein localization (GO:0034613)|cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.A56G(1)		cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				CAGGTTCTGCGCCGTCTCCTC	0.642																																						uc001huq.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(166-168)GCG>GGG		exocyst complex 84-kDa subunit							51.0	42.0	45.0					1																	231473325		2203	4300	6503	SO:0001583	missense	149371				exocytosis|protein transport	growth cone|nucleus	protein binding	g.chr1:231473325G>C	AL117352	CCDS1593.1	1q42.2	2013-01-22			ENSG00000116903	ENSG00000116903			24659	protein-coding gene	gene with protein product		615283				12477932	Standard	NM_175876		Approved	SEC84, EXO84, Exo84p	uc001huq.3	Q8IYI6	OTTHUMG00000038025	ENST00000360394.2:c.167C>G	1.37:g.231473325G>C	ENSP00000353564:p.Ala56Gly					C1orf124_uc001hur.2_5'Flank|C1orf124_uc001hus.2_5'Flank|C1orf124_uc001hut.2_5'Flank	p.A56G	NM_175876	NP_787072	Q8IYI6	EXOC8_HUMAN			1	254	-	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)	56					B3KU33|Q5TE82	Missense_Mutation	SNP	ENST00000360394.2	37	c.167C>G	CCDS1593.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.690368	0.68271	.	.	ENSG00000116903	ENST00000360394;ENST00000366645	T;T	0.78707	-1.2;-1.19	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.87188	0.6115	M	0.68952	2.095	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.84963	0.0878	10	0.36615	T	0.2	-27.4672	19.3561	0.94414	0.0:0.0:1.0:0.0	.	56	Q8IYI6	EXOC8_HUMAN	G	56;52	ENSP00000353564:A56G;ENSP00000355605:A52G	ENSP00000353564:A56G	A	-	2	0	EXOC8	229539948	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	9.400000	0.97290	2.810000	0.96702	0.650000	0.86243	GCG		PASS	0.642	EXOC8-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_175876		3	81	3	81	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237494252	237494252	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr1:237494252G>T	ENST00000366574.2	+	3	560	c.243G>T	c.(241-243)atG>atT	p.M81I	RYR2_ENST00000542537.1_Missense_Mutation_p.M65I|RYR2_ENST00000360064.6_Missense_Mutation_p.C79F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	81					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.C79F(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)			TGCAGGAGATGCTGGCTAACA	0.488																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(241-243)ATG>ATT		cardiac muscle ryanodine receptor							98.0	104.0	102.0					1																	237494252		2042	4227	6269	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.chr1:237494252G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.243G>T	1.37:g.237494252G>T	ENSP00000355533:p.Met81Ile						p.M81I	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		3	363	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	81			Cytoplasmic (By similarity).		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.243G>T	CCDS55691.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.1|23.1	4.374952|4.374952	0.82573|0.82573	.|.	.|.	ENSG00000198626|ENSG00000198626	ENST00000360064|ENST00000366574;ENST00000542537	D|D;D	0.96427|0.98296	-4.01|-4.85;-4.85	5.17|5.17	5.17|5.17	0.71159|0.71159	.|Inositol 1,4,5-trisphosphate/ryanodine receptor (1);	2.840400|.	0.01527|.	U|.	0.018602|.	D|D	0.96978|0.96978	0.9013|0.9013	L|L	0.58583|0.58583	1.82|1.82	0.80722|0.80722	D|D	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.06405	.|0.002	D|D	0.94992|0.94992	0.8135|0.8135	8|9	0.44086|0.72032	T|D	0.13|0.01	.|.	17.4318|17.4318	0.87541|0.87541	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|81	.|Q92736	.|RYR2_HUMAN	F|I	79|81;65	ENSP00000353174:C79F|ENSP00000355533:M81I;ENSP00000443798:M65I	ENSP00000353174:C79F|ENSP00000355533:M81I	C|M	+|+	2|3	0|0	RYR2|RYR2	235560875|235560875	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	6.191000|6.191000	0.72063|0.72063	2.379000|2.379000	0.81126|0.81126	0.585000|0.585000	0.79938|0.79938	TGC|ATG		PASS	0.488	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		29	78	29	78	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237819249	237819249	+	Silent	SNP	A	A	G			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr1:237819249A>G	ENST00000366574.2	+	53	8411	c.8094A>G	c.(8092-8094)gaA>gaG	p.E2698E	RYR2_ENST00000542537.1_Silent_p.E2682E|RYR2_ENST00000360064.6_Silent_p.E2696E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2698	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.E2696E(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)			TGGATTCTGAAGGGAACTTTA	0.403																																						uc001hyl.1																			1	Substitution - coding silent(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(8092-8094)GAA>GAG		cardiac muscle ryanodine receptor							75.0	75.0	75.0					1																	237819249		1866	4114	5980	SO:0001819	synonymous_variant	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.chr1:237819249A>G	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.8094A>G	1.37:g.237819249A>G							p.E2698E	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		53	8214	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2698			Modulator (Potential).|Cytoplasmic (By similarity).|3.|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.8094A>G	CCDS55691.1																																																																																				PASS	0.403	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		18	45	18	45	---	---	---	---
OR2M7	391196	broad.mit.edu	37	1	248487030	248487030	+	Missense_Mutation	SNP	C	C	T	rs143090101	byFrequency	TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr1:248487030C>T	ENST00000317965.2	-	1	869	c.841G>A	c.(841-843)Gtc>Atc	p.V281I		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	281						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V281I(1)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	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)			ATGGGAGTGACGATGGTGTAG	0.453																																						uc010pzk.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(841-843)GTC>ATC		olfactory receptor, family 2, subfamily M,		G	ILE/VAL	2,4404		0,2,2201	111.0	102.0	105.0		841	-1.2	0.5	1	dbSNP_134	105	0,8600		0,0,4300	no	missense	OR2M7	NM_001004691.1	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	281/313	248487030	2,13004	2203	4300	6503	SO:0001583	missense	391196				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248487030C>T	BK004486	CCDS31111.1	1q44	2012-08-09			ENSG00000177186	ENSG00000177186		"""GPCR / Class A : Olfactory receptors"""	19594	protein-coding gene	gene with protein product							Standard	NM_001004691		Approved		uc010pzk.2	Q8NG81	OTTHUMG00000040461	ENST00000317965.2:c.841G>A	1.37:g.248487030C>T	ENSP00000324557:p.Val281Ile						p.V281I	NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	841	-	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)		281			Helical; Name=7; (Potential).		B2RNL0|Q6IEX6	Missense_Mutation	SNP	ENST00000317965.2	37	c.841G>A	CCDS31111.1	.	.	.	.	.	.	.	.	.	.	G	8.527	0.870169	0.17322	4.54E-4	0.0	ENSG00000177186	ENST00000317965	T	0.00256	8.42	1.55	-1.24	0.09435	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00109	0.0003	N	0.13043	0.29	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.05500	-1.0881	9	0.40728	T	0.16	.	5.426	0.16425	0.2571:0.4033:0.3396:0.0	.	281	Q8NG81	OR2M7_HUMAN	I	281	ENSP00000324557:V281I	ENSP00000324557:V281I	V	-	1	0	OR2M7	246553653	0.000000	0.05858	0.549000	0.28204	0.031000	0.12232	-1.011000	0.03652	-0.445000	0.07159	-1.042000	0.02369	GTC		PASS	0.453	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097357.1	NM_001004691		42	103	42	103	---	---	---	---
RNF144A	9781	broad.mit.edu	37	2	7154628	7154628	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr2:7154628A>T	ENST00000320892.6	+	4	621	c.179A>T	c.(178-180)gAa>gTa	p.E60V	RNF144A_ENST00000467276.1_Intron	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	60					protein ubiquitination (GO:0016567)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.E60V(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		GAAGGATTAGAAACTGCAATT	0.443																																						uc002qys.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(178-180)GAA>GTA		ring finger protein 144							130.0	133.0	132.0					2																	7154628		2203	4300	6503	SO:0001583	missense	9781					Golgi apparatus|integral to membrane	ligase activity|zinc ion binding	g.chr2:7154628A>T	D79983	CCDS1657.1	2p25.2	2008-02-05	2007-08-20	2007-08-20	ENSG00000151692	ENSG00000151692		"""RING-type (C3HC4) zinc fingers"""	20457	protein-coding gene	gene with protein product			"""ring finger protein 144"""	RNF144		8724849, 10431818	Standard	NM_014746		Approved	UBCE7IP4, KIAA0161	uc002qys.3	P50876	OTTHUMG00000090353	ENST00000320892.6:c.179A>T	2.37:g.7154628A>T	ENSP00000321330:p.Glu60Val					RNF144A_uc002qyt.2_Intron	p.E60V	NM_014746	NP_055561	P50876	R144A_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.195)	4	621	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)	60			RING-type 1; atypical.		D6W4Y6|Q585H5	Missense_Mutation	SNP	ENST00000320892.6	37	c.179A>T	CCDS1657.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.3|24.3	4.515303|4.515303	0.85389|0.85389	.|.	.|.	ENSG00000151692|ENSG00000151692	ENST00000320892;ENST00000427092|ENST00000432850	T|.	0.21734|.	1.99|.	5.51|5.51	5.51|5.51	0.81932|0.81932	Zinc finger, RING-type (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.31040|.	0.0784|.	N|N	0.02181|0.02181	-0.65|-0.65	0.80722|0.80722	D|D	1|1	P|.	0.41673|.	0.759|.	B|.	0.37943|.	0.261|.	T|.	0.33548|.	-0.9864|.	10|.	0.33940|.	T|.	0.23|.	.|.	15.9211|15.9211	0.79575|0.79575	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	60|.	P50876|.	R144A_HUMAN|.	V|X	60|56	ENSP00000321330:E60V|.	ENSP00000321330:E60V|.	E|K	+|+	2|1	0|0	RNF144A|RNF144A	7072079|7072079	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.959000|0.959000	0.62525|0.62525	8.767000|8.767000	0.91732|0.91732	2.210000|2.210000	0.71456|0.71456	0.533000|0.533000	0.62120|0.62120	GAA|AAA		PASS	0.443	RNF144A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206725.2	NM_014746		54	131	54	131	---	---	---	---
NTSR2	23620	broad.mit.edu	37	2	11802132	11802132	+	Missense_Mutation	SNP	G	G	A	rs556704010		TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr2:11802132G>A	ENST00000306928.5	-	2	893	c.859C>T	c.(859-861)Cgc>Tgc	p.R287C		NM_012344.3	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	287					cell surface receptor signaling pathway (GO:0007166)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of membrane potential (GO:0042391)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)	p.R287C(1)		breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	CGGATCCGGCGCACGTCTTTA	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		19652	0.0		0.0	False		,,,				2504	0.001					uc002rbq.3																			1	Substitution - Missense(1)		lung(1)		0						c.(859-861)CGC>TGC		neurotensin receptor 2	Levocabastine(DB01106)						70.0	76.0	74.0					2																	11802132		2203	4300	6503	SO:0001583	missense	23620				sensory perception	integral to plasma membrane		g.chr2:11802132G>A	Y10148	CCDS1681.1	2p25.1	2012-08-08			ENSG00000169006	ENSG00000169006		"""GPCR / Class A : Neurotensin receptors"""	8040	protein-coding gene	gene with protein product		605538				8647296, 9851594	Standard	NM_012344		Approved	NTR2	uc002rbq.4	O95665	OTTHUMG00000119083	ENST00000306928.5:c.859C>T	2.37:g.11802132G>A	ENSP00000303686:p.Arg287Cys						p.R287C	NM_012344	NP_036476	O95665	NTR2_HUMAN		Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	2	933	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		287			Cytoplasmic (Potential).		Q53QQ5|Q57Z87|Q8IY58|Q8TBH6	Missense_Mutation	SNP	ENST00000306928.5	37	c.859C>T	CCDS1681.1	.	.	.	.	.	.	.	.	.	.	G	9.279	1.047620	0.19827	.	.	ENSG00000169006	ENST00000306928	T	0.73047	-0.71	4.31	-5.61	0.02489	GPCR, rhodopsin-like superfamily (1);	1.270400	0.05220	N	0.508430	T	0.51075	0.1653	L	0.28694	0.88	0.09310	N	0.999994	P	0.49635	0.926	B	0.37888	0.26	T	0.55186	-0.8180	10	0.56958	D	0.05	-1.1171	6.1784	0.20457	0.0:0.2616:0.4339:0.3045	.	287	O95665	NTR2_HUMAN	C	287	ENSP00000303686:R287C	ENSP00000303686:R287C	R	-	1	0	NTSR2	11719583	0.001000	0.12720	0.005000	0.12908	0.006000	0.05464	-0.547000	0.06055	-1.113000	0.02981	-0.738000	0.03535	CGC		PASS	0.577	NTSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239297.1			68	160	68	160	---	---	---	---
NCOA1	8648	broad.mit.edu	37	2	24929797	24929797	+	Silent	SNP	C	C	T			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr2:24929797C>T	ENST00000406961.1	+	13	2110	c.1458C>T	c.(1456-1458)ttC>ttT	p.F486F	NCOA1_ENST00000407230.1_Silent_p.F335F|NCOA1_ENST00000405141.1_Silent_p.F486F|NCOA1_ENST00000395856.3_Silent_p.F486F|NCOA1_ENST00000538539.1_Silent_p.F486F|NCOA1_ENST00000348332.3_Silent_p.F486F|NCOA1_ENST00000288599.5_Silent_p.F486F			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	486	Interaction with STAT3.|Ser-rich.				androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)	p.F486F(2)	PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAGCACAGTTCATGTCTCCAA	0.448			T	PAX3	alveolar rhadomyosarcoma																																	uc002rfk.2				Dom	yes		2	2p23	8648	T	nuclear receptor coactivator 1			M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	2	Substitution - coding silent(2)		lung(2)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11						c.(1456-1458)TTC>TTT		nuclear receptor coactivator 1 isoform 1							75.0	79.0	78.0					2																	24929797		2203	4300	6503	SO:0001819	synonymous_variant	8648							g.chr2:24929797C>T	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.1458C>T	2.37:g.24929797C>T						NCOA1_uc010eye.2_Silent_p.F486F|NCOA1_uc002rfi.2_Silent_p.F335F|NCOA1_uc002rfj.2_Silent_p.F486F|NCOA1_uc002rfl.2_Silent_p.F486F	p.F486F	NM_003743	NP_003734	Q15788	NCOA1_HUMAN			11	1716	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		486			Interaction with STAT3.|Ser-rich.		O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Silent	SNP	ENST00000406961.1	37	c.1458C>T	CCDS1712.1																																																																																				PASS	0.448	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223		46	118	46	118	---	---	---	---
NRXN1	9378	broad.mit.edu	37	2	50765611	50765611	+	Silent	SNP	C	C	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr2:50765611C>A	ENST00000406316.2	-	10	3399	c.1923G>T	c.(1921-1923)gtG>gtT	p.V641V	NRXN1_ENST00000402717.3_Silent_p.V633V|NRXN1_ENST00000404971.1_Silent_p.V681V|NRXN1_ENST00000401669.2_Silent_p.V641V|NRXN1_ENST00000406859.3_Silent_p.V641V|NRXN1_ENST00000405472.3_Silent_p.V633V|NRXN1_ENST00000331040.5_5'UTR	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	641	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|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)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.V681V(1)|p.V682V(1)|p.V641V(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TGATGCAGCCCACGTAGCCAT	0.522																																						uc010fbq.2																			3	Substitution - coding silent(3)		lung(3)	ovary(2)	2						c.(2041-2043)GTG>GTT		neurexin 1 isoform alpha2 precursor							154.0	170.0	165.0					2																	50765611		2201	4300	6501	SO:0001819	synonymous_variant	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50765611C>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1923G>T	2.37:g.50765611C>A						NRXN1_uc002rxb.3_Silent_p.V313V|NRXN1_uc002rxe.3_Silent_p.V641V|NRXN1_uc002rxc.1_RNA	p.V681V	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		10	3520	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Error:Variant_position_missing_in_P58400_after_alignment					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	c.2043G>T	CCDS54360.1																																																																																				PASS	0.522	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			36	171	36	171	---	---	---	---
MEIS1	4211	broad.mit.edu	37	2	66668595	66668595	+	Splice_Site	SNP	A	A	C			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr2:66668595A>C	ENST00000272369.9	+	5	939	c.482A>C	c.(481-483)aAg>aCg	p.K161T	MEIS1_ENST00000398506.2_Splice_Site_p.K159T|MEIS1_ENST00000444274.2_Splice_Site_p.K129T|MEIS1_ENST00000488550.1_Splice_Site_p.K161T|MEIS1-AS1_ENST00000454595.1_RNA|MEIS1-AS2_ENST00000439433.1_RNA|MEIS1_ENST00000560281.2_Splice_Site_p.K161T|MEIS1_ENST00000407092.2_Splice_Site_p.K161T|MEIS1_ENST00000495021.2_Splice_Site_p.K96T	NM_002398.2	NP_002389.1	O00470	MEIS1_HUMAN	Meis homeobox 1	161					angiogenesis (GO:0001525)|definitive hemopoiesis (GO:0060216)|lens morphogenesis in camera-type eye (GO:0002089)|megakaryocyte development (GO:0035855)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron differentiation (GO:0045665)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)	p.K161T(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						GAATTAGAGAAGGTAATTTCT	0.413																																						uc002sdu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(481-483)AAG>ACG		Meis homeobox 1							94.0	87.0	89.0					2																	66668595		1842	4079	5921	SO:0001630	splice_region_variant	4211						sequence-specific DNA binding transcription factor activity	g.chr2:66668595A>C		CCDS46309.1	2p14	2011-06-20	2007-02-15		ENSG00000143995	ENSG00000143995		"""Homeoboxes / TALE class"""	7000	protein-coding gene	gene with protein product		601739	"""Meis1 (mouse) homolog"", ""Meis1, myeloid ecotropic viral integration site 1 homolog (mouse)"""			7565694	Standard	NM_002398		Approved		uc002sdu.3	O00470	OTTHUMG00000150714	ENST00000272369.9:c.483+1A>C	2.37:g.66668595A>C						MEIS1_uc002sdt.2_Missense_Mutation_p.K161T|MEIS1_uc002sdv.2_Missense_Mutation_p.K159T|MEIS1_uc010yqh.1_RNA|MEIS1_uc010yqi.1_Missense_Mutation_p.K96T|MEIS1_uc002sdw.1_Missense_Mutation_p.K17T	p.K161T	NM_002398	NP_002389	O00470	MEIS1_HUMAN			5	939	+			161					A8MV50	Missense_Mutation	SNP	ENST00000272369.9	37	c.482A>C	CCDS46309.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.403944	0.83230	.	.	ENSG00000143995	ENST00000272369;ENST00000407092;ENST00000398506;ENST00000444274;ENST00000495021;ENST00000402908;ENST00000437869	T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.46	6.17	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.56124	0.1964	M	0.86028	2.79	0.51233	D	0.999919	D;B;D;B	0.69078	0.995;0.153;0.997;0.078	D;B;D;B	0.64687	0.92;0.236;0.928;0.182	T	0.62286	-0.6886	10	0.87932	D	0	.	11.3759	0.49728	0.9302:0.0:0.0698:0.0	.	96;159;161;161	F5GYS8;O00470-2;O00470;F8W8U3	.;.;MEIS1_HUMAN;.	T	161;161;159;129;96;17;17	ENSP00000272369:K161T;ENSP00000384461:K161T;ENSP00000381518:K159T;ENSP00000403206:K129T;ENSP00000440571:K96T;ENSP00000397418:K17T	ENSP00000272369:K161T	K	+	2	0	MEIS1	66522099	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.315000	0.96313	1.160000	0.42584	0.533000	0.62120	AAG		PASS	0.413	MEIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319725.4	NM_002398	Missense_Mutation	4	9	4	9	---	---	---	---
CTNNA2	1496	broad.mit.edu	37	2	79971593	79971593	+	Silent	SNP	T	T	G			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr2:79971593T>G	ENST00000402739.4	+	2	188	c.183T>G	c.(181-183)gcT>gcG	p.A61A	CTNNA2_ENST00000540488.1_Silent_p.A61A|CTNNA2_ENST00000466387.1_Silent_p.A61A|CTNNA2_ENST00000541047.1_Silent_p.A61A|CTNNA2_ENST00000496558.1_Silent_p.A61A|CTNNA2_ENST00000361291.4_Silent_p.A95A	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	61					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.A61A(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						ATGTACTAGCTGCCTCTGTAG	0.443																																						uc010ysh.1																			2	Substitution - coding silent(2)		lung(2)	pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(181-183)GCT>GCG		catenin, alpha 2 isoform 1							75.0	77.0	77.0					2																	79971593		1931	4129	6060	SO:0001819	synonymous_variant	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:79971593T>G		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.183T>G	2.37:g.79971593T>G						CTNNA2_uc010yse.1_Silent_p.A61A|CTNNA2_uc010ysf.1_Silent_p.A61A|CTNNA2_uc010ysg.1_Silent_p.A61A	p.A61A	NM_004389	NP_004380	P26232	CTNA2_HUMAN			2	188	+			61					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Silent	SNP	ENST00000402739.4	37	c.183T>G																																																																																					PASS	0.443	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		17	39	17	39	---	---	---	---
CTNNA2	1496	broad.mit.edu	37	2	80782969	80782969	+	Silent	SNP	G	G	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr2:80782969G>A	ENST00000402739.4	+	11	1697	c.1692G>A	c.(1690-1692)ggG>ggA	p.G564G	CTNNA2_ENST00000540488.1_Silent_p.G564G|CTNNA2_ENST00000466387.1_Silent_p.G564G|CTNNA2_ENST00000541047.1_Silent_p.G564G|CTNNA2_ENST00000496558.1_Silent_p.G564G|CTNNA2_ENST00000361291.4_Silent_p.G598G|CTNNA2_ENST00000343114.3_Silent_p.G243G	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	564					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.G564G(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						ATGAAGCTGGGGTTTATACTG	0.488																																						uc010ysh.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(1690-1692)GGG>GGA		catenin, alpha 2 isoform 1							147.0	139.0	142.0					2																	80782969		1897	4129	6026	SO:0001819	synonymous_variant	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80782969G>A		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1692G>A	2.37:g.80782969G>A						CTNNA2_uc010yse.1_Silent_p.G564G|CTNNA2_uc010ysf.1_Silent_p.G564G|CTNNA2_uc010ysg.1_Silent_p.G564G|CTNNA2_uc010ysi.1_Silent_p.G196G	p.G564G	NM_004389	NP_004380	P26232	CTNA2_HUMAN			11	1697	+			564					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Silent	SNP	ENST00000402739.4	37	c.1692G>A																																																																																					PASS	0.488	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		12	218	12	218	---	---	---	---
TGFBRAP1	9392	broad.mit.edu	37	2	105889313	105889313	+	Splice_Site	SNP	G	G	A	rs61738978		TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr2:105889313G>A	ENST00000393359.2	-	10	2397	c.1971C>T	c.(1969-1971)ctC>ctT	p.L657L	TGFBRAP1_ENST00000258449.1_Splice_Site_p.L657L			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	657					intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)	p.L657L(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CATCCTCACCGAGAAGAAAGT	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		17637	0.0		0.0	False		,,,				2504	0.001				Esophageal Squamous(183;794 2019 9730 21801 48859)	uc002tcq.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1969-1971)CTC>CTT		transforming growth factor, beta receptor							32.0	35.0	34.0					2																	105889313		2203	4300	6503	SO:0001630	splice_region_variant	9392				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding	g.chr2:105889313G>A	AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.1972+1C>T	2.37:g.105889313G>A						TGFBRAP1_uc010fjc.2_Silent_p.L426L|TGFBRAP1_uc002tcr.3_Silent_p.L657L	p.L657L	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN			10	2055	-			657					A8K5R7|D3DVJ8|O60466	Silent	SNP	ENST00000393359.2	37	c.1971C>T	CCDS2067.1																																																																																				PASS	0.552	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	NM_004257	Silent	20	47	20	47	---	---	---	---
TFCP2L1	29842	broad.mit.edu	37	2	122007221	122007221	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr2:122007221G>C	ENST00000263707.5	-	3	314	c.217C>G	c.(217-219)Cag>Gag	p.Q73E		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	73					cell morphogenesis (GO:0000902)|cytoplasm organization (GO:0007028)|determination of adult lifespan (GO:0008340)|epithelial cell maturation (GO:0002070)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of growth (GO:0045927)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|salivary gland development (GO:0007431)|steroid biosynthetic process (GO:0006694)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.Q73E(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					TCATAAGACTGACCTGGATGG	0.443																																						uc002tmx.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)	3						c.(217-219)CAG>GAG		LBP-9							97.0	103.0	101.0					2																	122007221		2203	4300	6503	SO:0001583	missense	29842				female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr2:122007221G>C	AF198488	CCDS2134.1	2q14	2008-02-05			ENSG00000115112	ENSG00000115112			17925	protein-coding gene	gene with protein product		609785				10644752, 11073954	Standard	NM_014553		Approved	LBP-9, CRTR1	uc002tmx.3	Q9NZI6	OTTHUMG00000131443	ENST00000263707.5:c.217C>G	2.37:g.122007221G>C	ENSP00000263707:p.Gln73Glu					TFCP2L1_uc010flr.2_Missense_Mutation_p.Q73E	p.Q73E	NM_014553	NP_055368	Q9NZI6	TF2L1_HUMAN			3	310	-	Renal(3;0.01)		73					Q4ZG43	Missense_Mutation	SNP	ENST00000263707.5	37	c.217C>G	CCDS2134.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.431766	0.83776	.	.	ENSG00000115112	ENST00000263707	T	0.41758	0.99	5.76	5.76	0.90799	CP2 transcription factor (1);	0.060112	0.64402	D	0.000002	T	0.60209	0.2251	M	0.78916	2.43	0.80722	D	1	P;P	0.40000	0.502;0.698	P;P	0.48524	0.458;0.58	T	0.62978	-0.6739	10	0.87932	D	0	.	19.9857	0.97347	0.0:0.0:1.0:0.0	.	73;73	Q5JV87;Q9NZI6	.;TF2L1_HUMAN	E	73	ENSP00000263707:Q73E	ENSP00000263707:Q73E	Q	-	1	0	TFCP2L1	121723691	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	9.785000	0.99042	2.706000	0.92434	0.655000	0.94253	CAG		PASS	0.443	TFCP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338539.1	NM_014553		21	132	21	132	---	---	---	---
RAB3GAP1	22930	broad.mit.edu	37	2	135920135	135920135	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr2:135920135A>T	ENST00000264158.8	+	20	2343	c.2300A>T	c.(2299-2301)tAt>tTt	p.Y767F	RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.Y723F|ZRANB3_ENST00000412849.1_5'UTR|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.Y767F	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	767					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.Y767F(1)|p.D564E(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		GTGCTGCACTATCTGGCAATC	0.483																																						uc002tuj.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(2299-2301)TAT>TTT		RAB3 GTPase-activating protein							49.0	47.0	48.0					2																	135920135		2203	4300	6503	SO:0001583	missense	22930					centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding	g.chr2:135920135A>T	D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.2300A>T	2.37:g.135920135A>T	ENSP00000264158:p.Tyr767Phe					RAB3GAP1_uc010fnf.2_Missense_Mutation_p.Y767F|RAB3GAP1_uc010fng.2_Missense_Mutation_p.Y592F|RAB3GAP1_uc010fnh.1_RNA	p.Y767F	NM_012233	NP_036365	Q15042	RB3GP_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	20	2325	+			767					A6H8Z3|C9J837|Q659F5|Q8TBB4	Missense_Mutation	SNP	ENST00000264158.8	37	c.2300A>T	CCDS33294.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.3|22.3	4.275770|4.275770	0.80580|0.80580	.|.	.|.	ENSG00000121988|ENSG00000115839	ENST00000538542;ENST00000283060|ENST00000264158;ENST00000539493;ENST00000442034	.|T;T;T	.|0.50548	.|0.74;0.74;0.74	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.39226|0.39226	0.1070|0.1070	N|N	0.25094|0.25094	0.71|0.71	0.80722|0.80722	D|D	1|1	.|B;B	.|0.25563	.|0.129;0.104	.|B;B	.|0.33295	.|0.161;0.121	T|T	0.20140|0.20140	-1.0284|-1.0284	6|10	0.87932|0.20519	D|T	0|0.43	-16.8251|-16.8251	16.6093|16.6093	0.84858|0.84858	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|767;767	.|C9J837;Q15042	.|.;RB3GP_HUMAN	E|F	563;564|767;723;767	.|ENSP00000264158:Y767F;ENSP00000444306:Y723F;ENSP00000411418:Y767F	ENSP00000283060:D564E|ENSP00000264158:Y767F	D|Y	-|+	3|2	2|0	ZRANB3|RAB3GAP1	135636605|135636605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.953000|0.953000	0.61014|0.61014	8.574000|8.574000	0.90763|0.90763	2.324000|2.324000	0.78689|0.78689	0.533000|0.533000	0.62120|0.62120	GAT|TAT		PASS	0.483	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2	NM_012233		6	72	6	72	---	---	---	---
NEB	4703	broad.mit.edu	37	2	152427027	152427027	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr2:152427027C>A	ENST00000172853.10	-	80	12146	c.11999G>T	c.(11998-12000)aGg>aTg	p.R4000M	NEB_ENST00000427231.2_Missense_Mutation_p.R5701M|NEB_ENST00000409198.1_Missense_Mutation_p.R4000M|NEB_ENST00000397345.3_Missense_Mutation_p.R5701M|NEB_ENST00000603639.1_Missense_Mutation_p.R5701M|NEB_ENST00000604864.1_Missense_Mutation_p.R5701M			P20929	NEBU_HUMAN	nebulin	4000					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.R4000M(1)|p.R5701M(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGCAATCTCCCTGGAGGCCTT	0.522																																						uc010fnx.2																			2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(11998-12000)AGG>ATG		nebulin isoform 3							26.0	27.0	26.0					2																	152427027		1923	4172	6095	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152427027C>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.11999G>T	2.37:g.152427027C>A	ENSP00000172853:p.Arg4000Met					NEB_uc002txr.2_Missense_Mutation_p.R423M	p.R4000M	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	80	12190	-			4000			Nebulin 109.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.11999G>T		.	.	.	.	.	.	.	.	.	.	C	23.5	4.427346	0.83667	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.69124	0.3076	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;0.995	D;D	0.97110	1.0;0.997	T	0.68303	-0.5444	10	0.54805	T	0.06	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	4000;431	P20929;Q14215	NEBU_HUMAN;.	M	4000;5701;5701;49;431;4000	ENSP00000386259:R4000M;ENSP00000380505:R5701M;ENSP00000416578:R5701M;ENSP00000410961:R431M;ENSP00000172853:R4000M	ENSP00000172853:R4000M	R	-	2	0	NEB	152135273	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	2.035000	0.41155	2.941000	0.99782	0.655000	0.94253	AGG		PASS	0.522	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		4	15	4	15	---	---	---	---
PKP4	8502	broad.mit.edu	37	2	159537068	159537068	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr2:159537068C>G	ENST00000389759.3	+	22	3570	c.3458C>G	c.(3457-3459)tCt>tGt	p.S1153C	AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000389757.3_Missense_Mutation_p.S1110C|AC005042.4_ENST00000442666.1_RNA	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	1153					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)		p.S1153C(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						TTTCCAGCTTCTACTGATTAC	0.393										HNSCC(62;0.18)																												uc002tzv.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(2)	7						c.(3457-3459)TCT>TGT		plakophilin 4 isoform a							138.0	135.0	136.0					2																	159537068		2203	4300	6503	SO:0001583	missense	8502				cell adhesion	desmosome	protein binding	g.chr2:159537068C>G	X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.3458C>G	2.37:g.159537068C>G	ENSP00000374409:p.Ser1153Cys	HNSCC(62;0.18)				PKP4_uc002tzw.2_Missense_Mutation_p.S1110C|PKP4_uc002tzx.2_Missense_Mutation_p.S810C|PKP4_uc002uaa.2_Missense_Mutation_p.S962C|uc002uab.1_Intron|PKP4_uc002uac.2_Missense_Mutation_p.S334C|PKP4_uc002uad.2_RNA	p.S1153C	NM_003628	NP_003619	Q99569	PKP4_HUMAN			22	3718	+			1153					Q86W91	Missense_Mutation	SNP	ENST00000389759.3	37	c.3458C>G	CCDS33305.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.826669	0.50739	.	.	ENSG00000144283	ENST00000389757;ENST00000389759	T;T	0.74947	-0.89;-0.87	5.49	5.49	0.81192	.	0.242826	0.42420	D	0.000706	T	0.68842	0.3045	N	0.14661	0.345	0.43448	D	0.995636	P;P;P	0.43662	0.814;0.731;0.661	P;P;B	0.46479	0.503;0.518;0.332	T	0.74054	-0.3788	10	0.72032	D	0.01	-10.6277	19.7433	0.96241	0.0:1.0:0.0:0.0	.	1108;1110;1153	Q4W5T8;Q99569-2;Q99569	.;.;PKP4_HUMAN	C	1110;1153	ENSP00000374407:S1110C;ENSP00000374409:S1153C	ENSP00000374407:S1110C	S	+	2	0	PKP4	159245314	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.607000	0.61133	2.733000	0.93635	0.655000	0.94253	TCT		PASS	0.393	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			26	272	26	272	---	---	---	---
SCN3A	6328	broad.mit.edu	37	2	165984340	165984340	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr2:165984340C>G	ENST00000360093.3	-	18	3685	c.3194G>C	c.(3193-3195)aGa>aCa	p.R1065T	SCN3A_ENST00000409101.3_Missense_Mutation_p.R1016T|SCN3A_ENST00000283254.7_Missense_Mutation_p.R1065T	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1065					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.R1065T(1)|p.R1016T(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATTCCCATCTCTAAGATAATT	0.363																																						uc002ucx.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(3193-3195)AGA>ACA		sodium channel, voltage-gated, type III, alpha	Lamotrigine(DB00555)						132.0	124.0	127.0					2																	165984340		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165984340C>G	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.3194G>C	2.37:g.165984340C>G	ENSP00000353206:p.Arg1065Thr					SCN3A_uc002ucy.2_Missense_Mutation_p.R1016T|SCN3A_uc002ucz.2_Missense_Mutation_p.R1016T|SCN3A_uc002uda.1_Missense_Mutation_p.R885T|SCN3A_uc002udb.1_Missense_Mutation_p.R885T	p.R1065T	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN			18	3686	-			1065					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.3194G>C		.	.	.	.	.	.	.	.	.	.	C	12.84	2.059513	0.36373	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69	5.93	4.79	0.61399	Sodium ion transport-associated (1);	0.086499	0.50627	D	0.000120	T	0.74114	0.3674	L	0.28556	0.865	0.80722	D	1	B;B;B;B;B	0.06786	0.001;0.0;0.0;0.0;0.001	B;B;B;B;B	0.23852	0.049;0.001;0.0;0.0;0.006	T	0.68569	-0.5374	10	0.52906	T	0.07	.	9.2817	0.37733	0.0:0.1463:0.0:0.8537	.	1065;1016;1016;1016;1065	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	T	1065;1065;1016;1016	ENSP00000353206:R1065T;ENSP00000283254:R1065T;ENSP00000386726:R1016T;ENSP00000403348:R1016T	ENSP00000283254:R1065T	R	-	2	0	SCN3A	165692586	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.201000	0.32259	1.088000	0.41272	-0.367000	0.07326	AGA		PASS	0.363	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		19	181	19	181	---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170103423	170103423	+	Silent	SNP	G	G	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr2:170103423G>A	ENST00000263816.3	-	21	3267	c.2982C>T	c.(2980-2982)ttC>ttT	p.F994F	LRP2_ENST00000443831.1_Silent_p.F857F	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	994	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.F994F(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	ACACTCGCTGGAAATTTGGCA	0.557																																						uc002ues.2																			1	Substitution - coding silent(1)		lung(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(2980-2982)TTC>TTT		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						71.0	66.0	68.0					2																	170103423		2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170103423G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.2982C>T	2.37:g.170103423G>A						LRP2_uc010zdf.1_Silent_p.F857F	p.F994F	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	21	3195	-			994			EGF-like 4.|Extracellular (Potential).		O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.2982C>T	CCDS2232.1																																																																																				PASS	0.557	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		26	67	26	67	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179411914	179411914	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr2:179411914C>G	ENST00000591111.1	-	290	89639	c.89415G>C	c.(89413-89415)gaG>gaC	p.E29805D	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E22506D|TTN_ENST00000460472.2_Missense_Mutation_p.E22381D|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E22573D|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E31446D|TTN_ENST00000342992.6_Missense_Mutation_p.E28878D|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29805	Fibronectin type-III 117. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E22381D(1)|p.E22506D(1)|p.E28878D(1)|p.E28876D(1)|p.E22573D(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTCTTTCTTCTCAACCCAGT	0.433																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(86632-86634)GAG>GAC		titin isoform N2-A							231.0	231.0	231.0					2																	179411914		1909	4126	6035	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179411914C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.89415G>C	2.37:g.179411914C>G	ENSP00000465570:p.Glu29805Asp					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E22573D|TTN_uc010zfi.1_Missense_Mutation_p.E22506D|TTN_uc010zfj.1_Missense_Mutation_p.E22381D	p.E28878D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		289	86858	-			29805					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.86634G>C		.	.	.	.	.	.	.	.	.	.	C	13.74	2.326300	0.41197	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58652	0.32;0.32;0.32;0.32	6.03	4.25	0.50352	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71467	0.3343	M	0.74546	2.27	0.47009	D	0.999283	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.80764	0.994;0.994;0.994;0.994	T	0.72010	-0.4419	9	0.87932	D	0	.	7.2506	0.26148	0.0:0.6481:0.0:0.3519	.	22381;22506;22573;29805	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	28878;22381;22573;22506;22378	ENSP00000343764:E28878D;ENSP00000434586:E22381D;ENSP00000340554:E22573D;ENSP00000352154:E22506D	ENSP00000340554:E22573D	E	-	3	2	TTN	179120160	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.101000	0.41787	0.883000	0.36040	0.655000	0.94253	GAG		PASS	0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		96	228	96	228	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179449653	179449653	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr2:179449653A>G	ENST00000591111.1	-	260	60016	c.59792T>C	c.(59791-59793)aTa>aCa	p.I19931T	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I12632T|TTN_ENST00000460472.2_Missense_Mutation_p.I12507T|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I12699T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I21572T|TTN_ENST00000342992.6_Missense_Mutation_p.I19004T|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19931	Fibronectin type-III 44. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.I19004T(1)|p.I12507T(1)|p.I12699T(1)|p.I12632T(1)|p.I19002T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCAGCGTCTATATCAGAAAT	0.458																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(57010-57012)ATA>ACA		titin isoform N2-A							57.0	59.0	59.0					2																	179449653		1922	4135	6057	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179449653A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.59792T>C	2.37:g.179449653A>G	ENSP00000465570:p.Ile19931Thr					uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I12699T|TTN_uc010zfi.1_Missense_Mutation_p.I12632T|TTN_uc010zfj.1_Missense_Mutation_p.I12507T	p.I19004T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		259	57235	-			19931					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.57011T>C		.	.	.	.	.	.	.	.	.	.	A	13.52	2.262501	0.39995	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58797	0.31;0.31;0.31;0.31	6.17	6.17	0.99709	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.59445	0.2194	L	0.58510	1.815	0.48632	D	0.999687	P;P;P;P	0.39717	0.684;0.684;0.684;0.684	B;B;B;B	0.40199	0.258;0.258;0.258;0.322	T	0.63844	-0.6545	9	0.87932	D	0	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	12507;12632;12699;19931	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	19004;12507;12699;12632;12505	ENSP00000343764:I19004T;ENSP00000434586:I12507T;ENSP00000340554:I12699T;ENSP00000352154:I12632T	ENSP00000340554:I12699T	I	-	2	0	TTN	179157899	1.000000	0.71417	0.970000	0.41538	0.666000	0.39218	6.110000	0.71535	2.371000	0.80710	0.533000	0.62120	ATA		PASS	0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		47	145	47	145	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179497054	179497054	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr2:179497054C>T	ENST00000591111.1	-	186	38868	c.38644G>A	c.(38644-38646)Gat>Aat	p.D12882N	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D5583N|TTN_ENST00000460472.2_Missense_Mutation_p.D5458N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D5650N|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D14523N|TTN_ENST00000342992.6_Missense_Mutation_p.D11955N|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12882					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.D11955N(2)|p.D5458N(1)|p.D5650N(1)|p.D5583N(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGGATGTTATCATGAGATAAC	0.428																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(35863-35865)GAT>AAT		titin isoform N2-A							105.0	95.0	98.0					2																	179497054		1906	4136	6042	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179497054C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.38644G>A	2.37:g.179497054C>T	ENSP00000465570:p.Asp12882Asn					TTN_uc010zfh.1_Missense_Mutation_p.D5650N|TTN_uc010zfi.1_Missense_Mutation_p.D5583N|TTN_uc010zfj.1_Missense_Mutation_p.D5458N	p.D11955N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		185	36087	-			12882					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.35863G>A		.	.	.	.	.	.	.	.	.	.	C	16.49	3.137266	0.56936	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	5.96	5.96	0.96718	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.85890	0.5802	M	0.65975	2.015	0.58432	D	0.999997	P;P;P;P	0.50819	0.939;0.939;0.939;0.939	P;P;P;P	0.56278	0.795;0.795;0.795;0.795	D	0.86128	0.1573	9	0.87932	D	0	.	20.4116	0.99017	0.0:1.0:0.0:0.0	.	5458;5583;5650;12882	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	11955;5458;5650;5583;5458	ENSP00000343764:D11955N;ENSP00000434586:D5458N;ENSP00000340554:D5650N;ENSP00000352154:D5583N	ENSP00000340554:D5650N	D	-	1	0	TTN	179205299	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	7.768000	0.85345	2.827000	0.97445	0.655000	0.94253	GAT		PASS	0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	27	8	27	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179605601	179605601	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr2:179605601T>C	ENST00000591111.1	-	46	11632	c.11408A>G	c.(11407-11409)cAa>cGa	p.Q3803R	TTN_ENST00000359218.5_Missense_Mutation_p.Q3882R|TTN_ENST00000460472.2_Missense_Mutation_p.Q3757R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q3949R|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Q4120R|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33481					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.Q3882R(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGCTTGTCTTGCTCCAAAAT	0.448																																						uc010zfh.1																			1	Substitution - Missense(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(11845-11847)CAA>CGA		titin isoform novex-2							134.0	130.0	132.0					2																	179605601		1904	4125	6029	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179605601T>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.11408A>G	2.37:g.179605601T>C	ENSP00000465570:p.Gln3803Arg					TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.Q3882R|TTN_uc010zfj.1_Missense_Mutation_p.Q3757R|TTN_uc002umz.1_Intron	p.Q3949R	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	12070	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.11846A>G		.	.	.	.	.	.	.	.	.	.	T	15.22	2.769859	0.49680	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.64260	-0.02;-0.08;-0.09	4.82	3.63	0.41609	.	.	.	.	.	T	0.48607	0.1509	N	0.19112	0.55	0.23366	N	0.997828	B;B;B	0.18741	0.03;0.03;0.03	B;B;B	0.21151	0.033;0.033;0.033	T	0.46748	-0.9169	9	0.87932	D	0	.	11.7824	0.52021	0.0:0.0:0.1475:0.8525	.	3757;3882;3949	D3DPF9;E7EQE6;E7ET18	.;.;.	R	3757;3949;3882;3757	ENSP00000434586:Q3757R;ENSP00000340554:Q3949R;ENSP00000352154:Q3882R	ENSP00000340554:Q3949R	Q	-	2	0	TTN	179313846	1.000000	0.71417	0.042000	0.18584	0.505000	0.33919	4.418000	0.59828	0.767000	0.33267	0.533000	0.62120	CAA		PASS	0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		76	192	76	192	---	---	---	---
SLC39A10	57181	broad.mit.edu	37	2	196548476	196548476	+	Silent	SNP	C	C	T			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr2:196548476C>T	ENST00000409086.3	+	3	1337	c.1062C>T	c.(1060-1062)ccC>ccT	p.P354P	SLC39A10_ENST00000541054.1_5'UTR|SLC39A10_ENST00000359634.5_Silent_p.P354P	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	354					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)	p.P354P(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			CCAACTCTCCCATCTCAACTG	0.338																																						uc002utg.3																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)|skin(1)	2						c.(1060-1062)CCC>CCT		solute carrier family 39 (zinc transporter),							148.0	139.0	142.0					2																	196548476		2203	4300	6503	SO:0001819	synonymous_variant	57181				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr2:196548476C>T		CCDS33353.1	2q33.1	2013-05-22			ENSG00000196950	ENSG00000196950		"""Solute carriers"""	20861	protein-coding gene	gene with protein product		608733	"""solute carrier family 39 (metal ion transporter), member 10"""			12659941	Standard	NM_020342		Approved	KIAA1265, FLJ90515, DKFZp564L2123	uc002utg.4	Q9ULF5	OTTHUMG00000154380	ENST00000409086.3:c.1062C>T	2.37:g.196548476C>T						SLC39A10_uc002uth.3_Silent_p.P354P|SLC39A10_uc010zgp.1_5'UTR	p.P354P	NM_001127257	NP_001120729	Q9ULF5	S39AA_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.221)		3	1276	+			354					A8K5C6|B4DGU0|Q3MJA4|Q68CR5|Q6DKH6|Q9Y3Z1	Silent	SNP	ENST00000409086.3	37	c.1062C>T	CCDS33353.1																																																																																				PASS	0.338	SLC39A10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335186.1	XM_047707		45	186	45	186	---	---	---	---
CPS1	1373	broad.mit.edu	37	2	211515145	211515145	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr2:211515145G>T	ENST00000233072.5	+	28	3659	c.3463G>T	c.(3463-3465)Gcg>Tcg	p.A1155S	CPS1_ENST00000451903.2_Missense_Mutation_p.A704S|CPS1_ENST00000430249.2_Missense_Mutation_p.A1161S	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1155	ATP-grasp 2.		A -> E (in CPS1D). {ECO:0000269|PubMed:21120950}.|A -> V (in CPS1D). {ECO:0000269|PubMed:21120950}.		anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.A1161S(1)|p.A1155S(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	CCTAGAAGAGGCGACTAGAGT	0.368																																						uc002vee.3																			2	Substitution - Missense(2)		lung(2)	ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(3463-3465)GCG>TCG		carbamoyl-phosphate synthetase 1 isoform b							131.0	131.0	131.0					2																	211515145		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211515145G>T	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.3463G>T	2.37:g.211515145G>T	ENSP00000233072:p.Ala1155Ser					CPS1_uc010fur.2_Missense_Mutation_p.A1161S|CPS1_uc010fus.2_Missense_Mutation_p.A704S	p.A1155S	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	28	3595	+			1155			ATP-grasp 2.		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.3463G>T	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.723265	0.89298	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.97710	-4.5;-4.5;-4.5	5.62	5.62	0.85841	ATP-grasp fold (1);ATP-grasp fold, subdomain 1 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);	0.000000	0.85682	D	0.000000	D	0.98921	0.9634	M	0.86420	2.815	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99585	1.0974	10	0.87932	D	0	-8.7932	20.0281	0.97530	0.0:0.0:1.0:0.0	.	1165;1155	Q59HF8;P31327	.;CPSM_HUMAN	S	1161;1163;1155;704	ENSP00000402608:A1161S;ENSP00000233072:A1155S;ENSP00000406136:A704S	ENSP00000233072:A1155S	A	+	1	0	CPS1	211223390	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	8.794000	0.91867	2.818000	0.97014	0.655000	0.94253	GCG		PASS	0.368	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			11	145	11	145	---	---	---	---
CPS1	1373	broad.mit.edu	37	2	211542649	211542649	+	Silent	SNP	C	C	T			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr2:211542649C>T	ENST00000233072.5	+	38	4639	c.4443C>T	c.(4441-4443)cgC>cgT	p.R1481R	CPS1_ENST00000451903.2_Silent_p.R1030R|CPS1_ENST00000430249.2_Silent_p.R1487R	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1481					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.R1481R(1)|p.R1487R(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	AGAAATCTCGCAAGGTGGACT	0.428																																						uc002vee.3																			2	Substitution - coding silent(2)		lung(2)	ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(4441-4443)CGC>CGT		carbamoyl-phosphate synthetase 1 isoform b							208.0	219.0	215.0					2																	211542649		2203	4300	6503	SO:0001819	synonymous_variant	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211542649C>T	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.4443C>T	2.37:g.211542649C>T						CPS1_uc010fur.2_Silent_p.R1487R|CPS1_uc010fus.2_Silent_p.R1030R	p.R1481R	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	38	4575	+			1481					B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Silent	SNP	ENST00000233072.5	37	c.4443C>T	CCDS2393.1																																																																																				PASS	0.428	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			133	406	133	406	---	---	---	---
ASIC4	55515	broad.mit.edu	37	2	220401788	220401788	+	Splice_Site	SNP	G	G	A	rs142124538	byFrequency	TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr2:220401788G>A	ENST00000347842.3	+	6	1568	c.1554G>A	c.(1552-1554)cgG>cgA	p.R518R	ASIC4_ENST00000358078.4_Splice_Site_p.R537R	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	518					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)	p.R537R(1)									GTCTCCACAGGGAGAACTTCC	0.577													G|||	2	0.000399361	0.0	0.0	5008	,	,		17698	0.0		0.002	False		,,,				2504	0.0					uc002vma.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1552-1554)CGG>CGA		amiloride-sensitive cation channel 4 isoform 2		G	,	1,4405	2.1+/-5.4	0,1,2202	81.0	77.0	78.0		1611,1554	1.8	1.0	2	dbSNP_134	78	11,8589	7.7+/-29.5	0,11,4289	yes	coding-synonymous-near-splice,coding-synonymous-near-splice	ACCN4	NM_018674.4,NM_182847.2	,	0,12,6491	AA,AG,GG		0.1279,0.0227,0.0923	,	537/667,518/648	220401788	12,12994	2203	4300	6503	SO:0001630	splice_region_variant	55515					integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity	g.chr2:220401788G>A	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.1554-1G>A	2.37:g.220401788G>A						ACCN4_uc002vlz.2_Silent_p.R537R|ACCN4_uc002vmb.2_Silent_p.R191R	p.R518R	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)	6	1568	+		Renal(207;0.0183)	518			Extracellular (Potential).		Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Silent	SNP	ENST00000347842.3	37	c.1554G>A	CCDS2442.1																																																																																				PASS	0.577	ASIC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130263.1	NM_018674	Silent	32	91	32	91	---	---	---	---
STK11IP	114790	broad.mit.edu	37	2	220471540	220471540	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr2:220471540C>T	ENST00000456909.1	+	12	1184	c.1094C>T	c.(1093-1095)tCa>tTa	p.S365L	STK11IP_ENST00000295641.10_Missense_Mutation_p.S376L			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	376					protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)	p.S376L(1)|p.S341L(1)|p.S365L(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCCTCTCCTCAGGGGGTGTT	0.627																																						uc002vml.2																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(1126-1128)TCA>TTA		LKB1 interacting protein							36.0	39.0	38.0					2																	220471540		2016	4164	6180	SO:0001583	missense	114790				protein localization	cytoplasm	protein kinase binding	g.chr2:220471540C>T	AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"""LKB1 interacting protein"""	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.1094C>T	2.37:g.220471540C>T	ENSP00000389383:p.Ser365Leu					STK11IP_uc010zll.1_Missense_Mutation_p.S333L|STK11IP_uc002vmm.1_Missense_Mutation_p.S365L	p.S376L	NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	12	1170	+		Renal(207;0.0183)	376					Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Missense_Mutation	SNP	ENST00000456909.1	37	c.1127C>T		.	.	.	.	.	.	.	.	.	.	C	15.51	2.855260	0.51376	.	.	ENSG00000144589	ENST00000456909;ENST00000426736;ENST00000295641	T;T	0.04917	3.53;3.53	4.76	4.76	0.60689	.	0.376627	0.25148	N	0.032777	T	0.21307	0.0513	M	0.63428	1.95	0.34199	D	0.672915	D;D;P	0.71674	0.998;0.989;0.885	D;D;P	0.75020	0.943;0.985;0.465	T	0.08371	-1.0725	10	0.48119	T	0.1	-2.5145	14.8254	0.70107	0.0:1.0:0.0:0.0	.	344;376;376	B4DUE4;Q8N1F8-2;Q8N1F8	.;.;S11IP_HUMAN	L	365;344;376	ENSP00000389383:S365L;ENSP00000295641:S376L	ENSP00000295641:S376L	S	+	2	0	STK11IP	220179784	0.965000	0.33210	0.990000	0.47175	0.126000	0.20510	4.186000	0.58337	2.469000	0.83416	0.561000	0.74099	TCA		PASS	0.627	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1	NM_052902		24	44	24	44	---	---	---	---
ACSL3	2181	broad.mit.edu	37	2	223773836	223773836	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr2:223773836G>C	ENST00000357430.3	+	4	877	c.346G>C	c.(346-348)Gaa>Caa	p.E116Q	ACSL3_ENST00000392066.3_Missense_Mutation_p.E116Q	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	116					brain development (GO:0007420)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty acid import (GO:0044539)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)|positive regulation of phosphatidylcholine biosynthetic process (GO:2001247)|positive regulation of secretion (GO:0051047)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.E116Q(2)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	TGAGGAAGATGAAGTACAACC	0.299			T	ETV1	prostate																																	uc002vni.2				Dom	yes		2	2q36	2181	T	acyl-CoA synthetase long-chain family member 3			E	ETV1		prostate		2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(346-348)GAA>CAA		acyl-CoA synthetase long-chain family member 3	Icosapent(DB00159)						43.0	45.0	44.0					2																	223773836		2198	4296	6494	SO:0001583	missense	2181				long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding	g.chr2:223773836G>C	D89053	CCDS2455.1	2q34-q35	2008-02-05	2004-02-19	2004-02-20	ENSG00000123983	ENSG00000123983		"""Acyl-CoA synthetase family"""	3570	protein-coding gene	gene with protein product		602371	"""fatty-acid-Coenzyme A ligase, long-chain 3"""	FACL3			Standard	NM_004457		Approved	ACS3, PRO2194	uc002vnj.3	O95573	OTTHUMG00000133160	ENST00000357430.3:c.346G>C	2.37:g.223773836G>C	ENSP00000350012:p.Glu116Gln					ACSL3_uc002vnj.2_Missense_Mutation_p.E116Q	p.E116Q	NM_004457	NP_004448	O95573	ACSL3_HUMAN		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	4	797	+		Renal(207;0.0183)	116			Cytoplasmic (Potential).		Q60I92|Q8IUM9	Missense_Mutation	SNP	ENST00000357430.3	37	c.346G>C	CCDS2455.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.462531	0.84425	.	.	ENSG00000123983	ENST00000357430;ENST00000392066	T;T	0.37584	1.19;1.19	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.65512	0.2698	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72364	-0.4316	10	0.72032	D	0.01	-26.2312	17.8436	0.88722	0.0:0.0:1.0:0.0	.	116	O95573	ACSL3_HUMAN	Q	116	ENSP00000350012:E116Q;ENSP00000375918:E116Q	ENSP00000350012:E116Q	E	+	1	0	ACSL3	223482080	1.000000	0.71417	0.998000	0.56505	0.900000	0.52787	9.263000	0.95617	2.451000	0.82905	0.591000	0.81541	GAA		PASS	0.299	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256862.2	NM_004457		28	70	28	70	---	---	---	---
TRIP12	9320	broad.mit.edu	37	2	230678586	230678586	+	Splice_Site	SNP	C	C	G			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr2:230678586C>G	ENST00000283943.5	-	12	2020	c.1842G>C	c.(1840-1842)caG>caC	p.Q614H	TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389044.4_Splice_Site_p.Q662H|TRIP12_ENST00000389045.3_Splice_Site_p.Q317H	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	614					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)	p.Q614H(1)		breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CATATTTTACCTGATGTGTTA	0.318																																						uc002vpw.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9						c.(1840-1842)CAG>CAC		thyroid hormone receptor interactor 12							62.0	58.0	60.0					2																	230678586		2203	4300	6503	SO:0001630	splice_region_variant	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230678586C>G	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.1842+1G>C	2.37:g.230678586C>G						TRIP12_uc002vpx.1_Missense_Mutation_p.Q662H|TRIP12_uc002vpy.1_Missense_Mutation_p.Q317H|TRIP12_uc010zlz.1_Intron|TRIP12_uc010fxh.1_Missense_Mutation_p.Q620H	p.Q614H	NM_004238	NP_004229	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	12	1951	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	614					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	c.1842G>C	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.058811	0.55325	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.35605	1.3;1.3;1.3	5.75	5.75	0.90469	Armadillo-like helical (1);Armadillo-type fold (1);	0.052776	0.85682	D	0.000000	T	0.54271	0.1848	L	0.44542	1.39	0.80722	D	1	D;D;D;D	0.61697	0.99;0.98;0.98;0.98	D;D;D;D	0.72982	0.979;0.965;0.965;0.965	T	0.41520	-0.9504	9	.	.	.	.	19.9975	0.97389	0.0:1.0:0.0:0.0	.	620;317;662;614	D4HL82;Q14CF1;Q14CA3;Q14669	.;.;.;TRIPC_HUMAN	H	614;317;662	ENSP00000283943:Q614H;ENSP00000373697:Q317H;ENSP00000373696:Q662H	.	Q	-	3	2	TRIP12	230386830	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.786000	0.85741	2.727000	0.93392	0.551000	0.68910	CAG		PASS	0.318	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238	Missense_Mutation	20	74	20	74	---	---	---	---
FARP2	9855	broad.mit.edu	37	2	242432343	242432343	+	Splice_Site	SNP	G	G	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr2:242432343G>A	ENST00000264042.3	+	25	2957		c.e25-1		STK25_ENST00000478403.1_5'Flank|STK25_ENST00000316586.4_3'UTR	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2						actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.?(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		TTTATTGACAGAACCAGCTTT	0.463																																						uc002wbi.1																			1	Unknown(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.e25-1		FERM, RhoGEF and pleckstrin domain protein 2							95.0	91.0	92.0					2																	242432343		2203	4300	6503	SO:0001630	splice_region_variant	9855				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr2:242432343G>A	AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.2788-1G>A	2.37:g.242432343G>A							p.N930_splice	NM_014808	NP_055623	O94887	FARP2_HUMAN		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)	25	2905	+		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)						B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Splice_Site	SNP	ENST00000264042.3	37	c.2788_splice	CCDS33424.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.331727	0.81690	.	.	ENSG00000006607	ENST00000264042;ENST00000444371	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.748	0.91802	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FARP2	242081016	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.526000	0.98042	2.493000	0.84123	0.655000	0.94253	.		PASS	0.463	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1		Intron	14	127	14	127	---	---	---	---
CNTN6	27255	broad.mit.edu	37	3	1363395	1363395	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr3:1363395T>C	ENST00000446702.2	+	8	1450	c.823T>C	c.(823-825)Tac>Cac	p.Y275H	CNTN6_ENST00000539053.1_Missense_Mutation_p.Y203H|CNTN6_ENST00000350110.2_Missense_Mutation_p.Y275H			Q9UQ52	CNTN6_HUMAN	contactin 6	275	Ig-like C2-type 3.				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.Y275H(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)		GAAAGTCAAGTACAGCAAATC	0.453																																						uc003boz.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|lung(2)|breast(2)|pancreas(1)	8						c.(823-825)TAC>CAC		contactin 6 precursor							133.0	135.0	134.0					3																	1363395		2203	4299	6502	SO:0001583	missense	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1363395T>C	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.823T>C	3.37:g.1363395T>C	ENSP00000407822:p.Tyr275His					CNTN6_uc011asj.1_Missense_Mutation_p.Y203H|CNTN6_uc003bpa.2_Missense_Mutation_p.Y275H	p.Y275H	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	8	1090	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	275			Ig-like C2-type 3.		Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.823T>C	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	T	11.28	1.592141	0.28357	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.79247	-1.25;-1.25;-1.25	5.9	3.54	0.40534	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.349877	0.24730	N	0.036077	T	0.65481	0.2695	L	0.41710	1.295	0.19775	N	0.99996	B	0.02656	0.0	B	0.09377	0.004	T	0.52079	-0.8623	10	0.31617	T	0.26	.	6.8758	0.24147	0.0:0.3062:0.0:0.6938	.	275	Q9UQ52	CNTN6_HUMAN	H	275;203;275	ENSP00000407822:Y275H;ENSP00000442791:Y203H;ENSP00000341882:Y275H	ENSP00000341882:Y275H	Y	+	1	0	CNTN6	1338395	0.905000	0.30787	0.998000	0.56505	0.991000	0.79684	1.335000	0.33839	0.498000	0.27948	0.528000	0.53228	TAC		PASS	0.453	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		84	137	84	137	---	---	---	---
FBXL2	25827	broad.mit.edu	37	3	33400471	33400471	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr3:33400471C>G	ENST00000484457.1	+	3	169	c.78C>G	c.(76-78)ttC>ttG	p.F26L	FBXL2_ENST00000283627.6_Intron|FBXL2_ENST00000446237.3_5'UTR|FBXL2_ENST00000538892.1_Missense_Mutation_p.F26L|FBXL2_ENST00000538181.1_Intron|FBXL2_ENST00000507198.1_Missense_Mutation_p.F26L|FBXL2_ENST00000542085.1_5'UTR	NM_012157.3	NP_036289.3			F-box and leucine-rich repeat protein 2									p.F26L(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						TATTTTCCTTCTTGGATATAG	0.313																																						uc003cfp.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(76-78)TTC>TTG		F-box and leucine-rich repeat protein 2							38.0	39.0	39.0					3																	33400471		2200	4295	6495	SO:0001583	missense	25827				interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity	g.chr3:33400471C>G	AF174589	CCDS2658.1, CCDS54560.1	3p22.3	2011-06-09			ENSG00000153558	ENSG00000153558		"""F-boxes / Leucine-rich repeats"""	13598	protein-coding gene	gene with protein product		605652				10508920, 10531035	Standard	NM_012157		Approved	FBL2, FBL3	uc003cfp.3	Q9UKC9	OTTHUMG00000130745	ENST00000484457.1:c.78C>G	3.37:g.33400471C>G	ENSP00000417601:p.Phe26Leu					FBXL2_uc011axm.1_RNA|FBXL2_uc011axn.1_RNA|FBXL2_uc011axo.1_5'UTR|FBXL2_uc011axp.1_Intron|FBXL2_uc011axq.1_Intron|FBXL2_uc011axr.1_Intron|FBXL2_uc011axs.1_RNA	p.F26L	NM_012157	NP_036289	Q9UKC9	FBXL2_HUMAN			3	149	+			26			F-box.			Missense_Mutation	SNP	ENST00000484457.1	37	c.78C>G	CCDS2658.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.533641	0.27387	.	.	ENSG00000153558	ENST00000484457;ENST00000538892;ENST00000507198	T;T;T	0.41065	1.01;1.01;1.01	5.36	3.56	0.40772	F-box domain, cyclin-like (3);	0.051832	0.85682	D	0.000000	T	0.49643	0.1569	M	0.62266	1.93	0.80722	D	1	P	0.42692	0.787	P	0.50708	0.648	T	0.46527	-0.9185	10	0.46703	T	0.11	.	10.3826	0.44121	0.0:0.8443:0.0:0.1557	.	26	Q9UKC9	FBXL2_HUMAN	L	26	ENSP00000417601:F26L;ENSP00000441228:F26L;ENSP00000426163:F26L	ENSP00000408895:F26L	F	+	3	2	FBXL2	33375475	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.284000	0.43478	0.910000	0.36722	0.591000	0.81541	TTC		PASS	0.313	FBXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253245.2	NM_012157		13	28	13	28	---	---	---	---
CX3CR1	1524	broad.mit.edu	37	3	39307160	39307160	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr3:39307160C>A	ENST00000541347.1	-	2	1080	c.841G>T	c.(841-843)Gtt>Ttt	p.V281F	CX3CR1_ENST00000358309.3_Missense_Mutation_p.V313F|CX3CR1_ENST00000399220.2_Missense_Mutation_p.V281F|CX3CR1_ENST00000542107.1_Missense_Mutation_p.V281F	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	281					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cerebral cortex cell migration (GO:0021795)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|macrophage chemotaxis (GO:0048246)|microglial cell activation involved in immune response (GO:0002282)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|response to wounding (GO:0009611)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|neuronal cell body membrane (GO:0032809)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-X3-C chemokine receptor activity (GO:0016495)|chemokine receptor activity (GO:0004950)	p.V313F(1)|p.V281F(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		CTAAATGCAACCGTCTCAGTC	0.473																																						uc003cjl.2																			2	Substitution - Missense(2)		lung(2)	lung(3)	3						c.(841-843)GTT>TTT		chemokine (C-X3-C motif) receptor 1							139.0	137.0	138.0					3																	39307160		1958	4162	6120	SO:0001583	missense	1524				cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity	g.chr3:39307160C>A	BC028078	CCDS43069.1, CCDS54571.1	3p21.3	2012-08-08	2002-08-22		ENSG00000168329	ENSG00000168329		"""GPCR / Class A : Chemokine receptors : C-X-3-C motif"""	2558	protein-coding gene	gene with protein product		601470	"""chemokine (C-X3-C) receptor 1"""	GPR13, CMKBRL1		9726990, 7646814	Standard	NM_001171171		Approved	CMKDR1, V28, CCRL1	uc021wwc.1	P49238	OTTHUMG00000156249	ENST00000541347.1:c.841G>T	3.37:g.39307160C>A	ENSP00000439140:p.Val281Phe						p.V281F	NM_001337	NP_001328	P49238	CX3C1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)	2	933	-			281			Helical; Name=7; (Potential).		A0N0N6|B2R5Z4|J3KP17	Missense_Mutation	SNP	ENST00000541347.1	37	c.841G>T	CCDS43069.1	.	.	.	.	.	.	.	.	.	.	C	9.642	1.139281	0.21205	.	.	ENSG00000168329	ENST00000399220;ENST00000538756;ENST00000358309;ENST00000541347;ENST00000542107	T;T;T;T	0.35421	1.31;1.31;1.31;1.31	5.77	-9.66	0.00534	GPCR, rhodopsin-like superfamily (1);	0.419848	0.26328	N	0.025016	T	0.09992	0.0245	N	0.05050	-0.12	0.18873	N	0.999985	B	0.11235	0.004	B	0.12156	0.007	T	0.04360	-1.0957	10	0.59425	D	0.04	.	0.9781	0.01430	0.1925:0.3084:0.1955:0.3035	.	281	P49238	CX3C1_HUMAN	F	281;289;313;281;281	ENSP00000382166:V281F;ENSP00000351059:V313F;ENSP00000439140:V281F;ENSP00000444928:V281F	ENSP00000351059:V313F	V	-	1	0	CX3CR1	39282164	0.000000	0.05858	0.000000	0.03702	0.194000	0.23727	-0.819000	0.04462	-1.506000	0.01805	-0.176000	0.13171	GTT		PASS	0.473	CX3CR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343613.1	NM_001337		33	86	33	86	---	---	---	---
SETD2	29072	broad.mit.edu	37	3	47129614	47129614	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr3:47129614C>A	ENST00000409792.3	-	10	5308	c.5266G>T	c.(5266-5268)Gaa>Taa	p.E1756*	snoU13_ENST00000516129.1_RNA	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1756					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.E1253*(1)|p.E1756*(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TGTATGAGTTCCAGACAGGTA	0.378			"""N, F, S, Mis"""		clear cell renal carcinoma																																	uc003cqs.2				Rec	yes		3	3p21.31	29072	N|F|S|Mis	SET domain containing 2			E			clear cell renal carcinoma		2	Substitution - Nonsense(2)		lung(2)	kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32						c.(5266-5268)GAA>TAA		SET domain containing 2							120.0	125.0	124.0					3																	47129614		2203	4300	6503	SO:0001587	stop_gained	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47129614C>A	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.5266G>T	3.37:g.47129614C>A	ENSP00000386759:p.Glu1756*					SETD2_uc003cqv.2_Nonsense_Mutation_p.E1823*	p.E1756*	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	10	5319	-		Acute lymphoblastic leukemia(5;0.0169)	1756					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Nonsense_Mutation	SNP	ENST00000409792.3	37	c.5266G>T	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	42	9.200111	0.99098	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	.	.	.	4.46	-4.26	0.03755	.	0.481780	0.18774	N	0.131531	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.4158	0.32670	0.0:0.4985:0.1305:0.3711	.	.	.	.	X	1756	.	ENSP00000386759:E1756X	E	-	1	0	SETD2	47104618	0.947000	0.32204	0.005000	0.12908	0.920000	0.55202	0.827000	0.27421	-0.940000	0.03705	-0.355000	0.07637	GAA		PASS	0.378	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		64	100	64	100	---	---	---	---
KLHL18	23276	broad.mit.edu	37	3	47382151	47382151	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr3:47382151C>T	ENST00000232766.5	+	8	1231	c.1211C>T	c.(1210-1212)tCa>tTa	p.S404L	KLHL18_ENST00000455924.2_Missense_Mutation_p.S292L	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	404								p.S404L(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		GAGACCTACTCACCTGAGACG	0.493																																						uc003crd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1210-1212)TCA>TTA		kelch-like 18							150.0	127.0	135.0					3																	47382151		2203	4300	6503	SO:0001583	missense	23276							g.chr3:47382151C>T	AB018338	CCDS33749.1	3p21	2013-01-30	2013-01-30		ENSG00000114648	ENSG00000114648		"""Kelch-like"", ""BTB/POZ domain containing"""	29120	protein-coding gene	gene with protein product			"""kelch-like 18 (Drosophila)"""			9872452	Standard	NM_025010		Approved	KIAA0795, FLJ13703	uc003crd.3	O94889	OTTHUMG00000156522	ENST00000232766.5:c.1211C>T	3.37:g.47382151C>T	ENSP00000232766:p.Ser404Leu					KLHL18_uc011bav.1_Missense_Mutation_p.S292L	p.S404L	NM_025010	NP_079286	O94889	KLH18_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)	8	1337	+		Acute lymphoblastic leukemia(5;0.164)	404			Kelch 3.		A8K612|Q7Z3E8|Q8N125	Missense_Mutation	SNP	ENST00000232766.5	37	c.1211C>T	CCDS33749.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.470549	0.84533	.	.	ENSG00000114648	ENST00000232766;ENST00000455924	T;T	0.78707	-1.2;-1.2	5.61	5.61	0.85477	Galactose oxidase, beta-propeller (1);	0.067238	0.64402	D	0.000009	T	0.80281	0.4594	L	0.58925	1.835	0.80722	D	1	B	0.30727	0.292	B	0.39971	0.315	T	0.80446	-0.1379	10	0.87932	D	0	.	16.7745	0.85547	0.0:1.0:0.0:0.0	.	404	O94889	KLH18_HUMAN	L	404;292	ENSP00000232766:S404L;ENSP00000405585:S292L	ENSP00000232766:S404L	S	+	2	0	KLHL18	47357155	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.683000	0.84093	2.637000	0.89404	0.650000	0.86243	TCA		PASS	0.493	KLHL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344493.1	NM_025010		6	144	6	144	---	---	---	---
SCAP	22937	broad.mit.edu	37	3	47455557	47455557	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr3:47455557G>C	ENST00000265565.5	-	23	4039	c.3627C>G	c.(3625-3627)atC>atG	p.I1209M	SCAP_ENST00000441517.2_Missense_Mutation_p.I953M|SCAP_ENST00000545718.1_Missense_Mutation_p.I816M	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	1209	Interaction with SREBF2. {ECO:0000250}.				aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)	p.I1209M(1)		endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		GGTTGTCTGAGATGACACCCA	0.547																																					Pancreas(149;978 1908 29304 37806 46700)	uc003crh.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(3625-3627)ATC>ATG		SREBF chaperone protein							69.0	73.0	72.0					3																	47455557		2203	4300	6503	SO:0001583	missense	22937				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding	g.chr3:47455557G>C	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.3627C>G	3.37:g.47455557G>C	ENSP00000265565:p.Ile1209Met					SCAP_uc011baz.1_Missense_Mutation_p.I953M|SCAP_uc003crg.2_Missense_Mutation_p.I816M|uc003cri.2_5'Flank	p.I1209M	NM_012235	NP_036367	Q12770	SCAP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)	23	3882	-			1209			Interaction with SREBF2 (By similarity).|Cytoplasmic (By similarity).|WD 7.		Q8N2E0|Q8WUA1	Missense_Mutation	SNP	ENST00000265565.5	37	c.3627C>G	CCDS2755.2	.	.	.	.	.	.	.	.	.	.	G	17.52	3.411317	0.62399	.	.	ENSG00000114650	ENST00000339815;ENST00000360832;ENST00000265565;ENST00000441517;ENST00000545718	T;T;T	0.39787	1.57;2.21;1.06	5.2	4.33	0.51752	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.40791	0.1131	N	0.08118	0	0.53688	D	0.999978	D;D	0.67145	0.996;0.992	D;P	0.65010	0.931;0.858	T	0.43212	-0.9405	10	0.38643	T	0.18	-31.1868	13.5695	0.61838	0.0753:0.0:0.9247:0.0	.	953;1209	F8W921;Q12770	.;SCAP_HUMAN	M	701;835;1209;953;816	ENSP00000265565:I1209M;ENSP00000416847:I953M;ENSP00000438956:I816M	ENSP00000265565:I1209M	I	-	3	3	SCAP	47430561	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.491000	0.53252	1.431000	0.47355	-0.140000	0.14226	ATC		PASS	0.547	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235		30	51	30	51	---	---	---	---
BBX	56987	broad.mit.edu	37	3	107492023	107492023	+	Silent	SNP	C	C	T	rs200479657		TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr3:107492023C>T	ENST00000325805.8	+	11	1742	c.1455C>T	c.(1453-1455)agC>agT	p.S485S	BBX_ENST00000402543.1_Silent_p.S485S|BBX_ENST00000416476.2_Intron|BBX_ENST00000406780.1_Silent_p.S485S|BBX_ENST00000415149.2_Silent_p.S485S			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	485	Lys-rich.				bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S485S(1)		breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			ACATTGAGAGCGTCATATATA	0.453													C|||	1	0.000199681	0.0	0.0	5008	,	,		18825	0.0		0.001	False		,,,				2504	0.0					uc010hpr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(1453-1455)AGC>AGT		HMG-BOX transcription factor BBX isoform 1		C	,	0,4406		0,0,2203	75.0	79.0	78.0		1455,1455	0.8	1.0	3		78	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous,coding-synonymous	BBX	NM_001142568.1,NM_020235.5	,	0,5,6498	TT,TC,CC		0.0581,0.0,0.0384	,	485/942,485/912	107492023	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	56987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr3:107492023C>T	AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"""x 001 protein"""					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.1455C>T	3.37:g.107492023C>T						BBX_uc003dwk.3_Silent_p.S485S|BBX_uc003dwl.3_Intron|BBX_uc010hps.1_Silent_p.S506S|BBX_uc003dwm.3_Silent_p.S485S|BBX_uc003dwo.3_5'Flank	p.S485S	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.112)		11	1782	+			485			Lys-rich.		A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Silent	SNP	ENST00000325805.8	37	c.1455C>T	CCDS46881.1																																																																																				PASS	0.453	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1	NM_020235		13	162	13	162	---	---	---	---
CD200R1L	344807	broad.mit.edu	37	3	112546226	112546226	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr3:112546226G>A	ENST00000398214.1	-	3	643	c.418C>T	c.(418-420)Ctc>Ttc	p.L140F	CD200R1L_ENST00000488794.1_Missense_Mutation_p.L119F|CD200R1L_ENST00000448932.1_Missense_Mutation_p.L119F	NM_001008784.2	NP_001008784.2	Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	140	Ig-like C2-type.					integral component of membrane (GO:0016021)		p.L140F(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						AACACTTGGAGGTGATATCCA	0.438																																						uc003dzi.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(418-420)CTC>TTC		CD200 cell surface glycoprotein receptor 2							107.0	104.0	105.0					3																	112546226		2203	4300	6503	SO:0001583	missense	344807					integral to membrane	receptor activity	g.chr3:112546226G>A	AY284976	CCDS43131.1, CCDS56267.1	3q13.2	2014-05-15	2008-10-08		ENSG00000206531	ENSG00000206531		"""Immunoglobulin superfamily / C2-set domain containing"""	24665	protein-coding gene	gene with protein product	"""CD200 receptor 2"""						Standard	NM_001008784		Approved	CD200RLa, CD200R2	uc003dzi.1	Q6Q8B3	OTTHUMG00000159283	ENST00000398214.1:c.418C>T	3.37:g.112546226G>A	ENSP00000381272:p.Leu140Phe					CD200R1L_uc011bhw.1_Missense_Mutation_p.L119F|CD200R1L_uc010hqf.1_Missense_Mutation_p.L119F	p.L140F	NM_001008784	NP_001008784	Q6Q8B3	MO2R2_HUMAN			3	644	-			140			Extracellular (Potential).|Ig-like C2-type.		Q6WHB7	Missense_Mutation	SNP	ENST00000398214.1	37	c.418C>T	CCDS43131.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.143250	0.77888	.	.	ENSG00000206531	ENST00000398214;ENST00000488794;ENST00000448932	T;T;T	0.57752	0.38;0.38;0.38	4.19	3.3	0.37823	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000011	T	0.72637	0.3485	M	0.87617	2.895	0.41778	D	0.989808	D	0.76494	0.999	D	0.85130	0.997	T	0.76066	-0.3095	10	0.87932	D	0	.	9.6116	0.39665	0.0:0.0:0.7926:0.2073	.	140	Q6Q8B3	MO2R2_HUMAN	F	140;119;119	ENSP00000381272:L140F;ENSP00000418413:L119F;ENSP00000415132:L119F	ENSP00000381272:L140F	L	-	1	0	CD200R1L	114028916	0.978000	0.34361	0.928000	0.36995	0.701000	0.40568	2.498000	0.45363	1.067000	0.40740	0.650000	0.86243	CTC		PASS	0.438	CD200R1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354365.1	NM_001008784		21	288	21	288	---	---	---	---
SEMA5B	54437	broad.mit.edu	37	3	122629801	122629801	+	Silent	SNP	G	G	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr3:122629801G>A	ENST00000357599.3	-	22	3569	c.3183C>T	c.(3181-3183)caC>caT	p.H1061H	SEMA5B_ENST00000451055.2_Silent_p.H1115H|SEMA5B_ENST00000195173.4_3'UTR	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	1061					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.H1115H(1)|p.H1061H(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GACGCTGGCAGTGCTGGCAAG	0.582																																						uc003efz.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7						c.(3181-3183)CAC>CAT		semaphorin 5B isoform 1							102.0	90.0	94.0					3																	122629801		2203	4300	6503	SO:0001819	synonymous_variant	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122629801G>A	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.3183C>T	3.37:g.122629801G>A						SEMA5B_uc011bju.1_Silent_p.H967H|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Silent_p.H1061H|SEMA5B_uc003efy.1_Silent_p.H39H	p.H1061H	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	22	3487	-			1061			Cytoplasmic (Potential).		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Silent	SNP	ENST00000357599.3	37	c.3183C>T	CCDS35491.1	.	.	.	.	.	.	.	.	.	.	G	9.109	1.006013	0.19199	.	.	ENSG00000082684	ENST00000451541	.	.	.	4.86	3.99	0.46301	.	.	.	.	.	T	0.58352	0.2116	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55231	-0.8173	4	.	.	.	.	8.2219	0.31547	0.0835:0.1573:0.7592:0.0	.	.	.	.	I	107	.	.	T	-	2	0	SEMA5B	124112491	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	0.281000	0.18810	1.276000	0.44395	0.655000	0.94253	ACT		PASS	0.582	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		33	78	33	78	---	---	---	---
COL6A6	131873	broad.mit.edu	37	3	130289871	130289871	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr3:130289871G>T	ENST00000358511.6	+	6	2642	c.2611G>T	c.(2611-2613)Gag>Tag	p.E871*	COL6A6_ENST00000453409.2_Nonsense_Mutation_p.E871*	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	871	Nonhelical region.|VWFA 5. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.E871*(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CACAAAACTGGAGGTAATTTC	0.507																																						uc010htl.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(2611-2613)GAG>TAG		collagen type VI alpha 6 precursor							60.0	62.0	62.0					3																	130289871		1923	4132	6055	SO:0001587	stop_gained	131873				axon guidance|cell adhesion	collagen		g.chr3:130289871G>T	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.2611G>T	3.37:g.130289871G>T	ENSP00000351310:p.Glu871*						p.E871*	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			6	2642	+			871			VWFA 5.|Nonhelical region.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Nonsense_Mutation	SNP	ENST00000358511.6	37	c.2611G>T	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	37	6.096365	0.97281	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	.	.	.	4.87	3.97	0.46021	.	0.323755	0.26582	N	0.023576	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	13.705	0.62633	0.0804:0.0:0.9196:0.0	.	.	.	.	X	871	.	ENSP00000351310:E871X	E	+	1	0	COL6A6	131772561	0.089000	0.21612	0.794000	0.32065	0.112000	0.19704	0.499000	0.22546	2.424000	0.82194	0.561000	0.74099	GAG		PASS	0.507	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		13	62	13	62	---	---	---	---
TF	7018	broad.mit.edu	37	3	133472451	133472451	+	Missense_Mutation	SNP	G	G	A	rs121918681		TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr3:133472451G>A	ENST00000402696.3	+	3	714	c.229G>A	c.(229-231)Gat>Aat	p.D77N	TFP1_ENST00000460564.1_RNA|TF_ENST00000264998.3_De_novo_Start_OutOfFrame|TF_ENST00000475382.1_3'UTR	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	77	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.		D -> N (in ATRAF). {ECO:0000269|PubMed:15466165}.		blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)	p.D77N(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	AAACGAAGCGGATGCTGTGAC	0.522																																						uc003epu.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2	GRCh37	CM043106	TF	M	rs121918681	c.(229-231)GAT>AAT		transferrin precursor	Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)						147.0	128.0	135.0					3																	133472451		2203	4300	6503	SO:0001583	missense	7018				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding	g.chr3:133472451G>A		CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.229G>A	3.37:g.133472451G>A	ENSP00000385834:p.Asp77Asn					TF_uc011bls.1_Missense_Mutation_p.D77N|TF_uc011blt.1_5'UTR|TF_uc003epw.1_Intron|TF_uc003epv.1_Missense_Mutation_p.D77N	p.D77N	NM_001063	NP_001054	P02787	TRFE_HUMAN			8	1957	+			77		D -> N (in ATRAF).	Transferrin-like 1.		O43890|Q1HBA5|Q9NQB8|Q9UHV0	Missense_Mutation	SNP	ENST00000402696.3	37	c.229G>A	CCDS3080.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.531239	0.85706	.	.	ENSG00000091513	ENST00000402696;ENST00000466911	T;T	0.62498	0.02;0.59	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	D	0.87834	0.6277	H	0.98866	4.355	0.80722	A	1	D	0.76494	0.999	D	0.81914	0.995	D	0.92496	0.6004	9	0.87932	D	0	-42.917	17.5631	0.87912	0.0:0.0:1.0:0.0	.	77	P02787	TRFE_HUMAN	N	77;33	ENSP00000385834:D77N;ENSP00000417468:D33N	ENSP00000385834:D77N	D	+	1	0	TF	134955141	1.000000	0.71417	0.665000	0.29768	0.008000	0.06430	7.275000	0.78548	2.756000	0.94617	0.561000	0.74099	GAT		PASS	0.522	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317775.1	NM_001063		19	80	19	80	---	---	---	---
PPP2R3A	5523	broad.mit.edu	37	3	135759780	135759780	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr3:135759780A>T	ENST00000264977.3	+	4	2959	c.2342A>T	c.(2341-2343)cAg>cTg	p.Q781L	PPP2R3A_ENST00000490467.1_Missense_Mutation_p.Q45L|PPP2R3A_ENST00000334546.2_Missense_Mutation_p.Q160L|PPP2R3A_ENST00000492624.2_Missense_Mutation_p.Q45L	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	781	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)	p.Q160L(1)|p.Q781L(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GTGACAGCACAGTCATTCATT	0.478																																						uc003eqv.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1)	7						c.(2341-2343)CAG>CTG		protein phosphatase 2, regulatory subunit B'',							145.0	131.0	136.0					3																	135759780		2203	4300	6503	SO:0001583	missense	5523				protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity	g.chr3:135759780A>T	L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	9307	protein-coding gene	gene with protein product		604944	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"""	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.2342A>T	3.37:g.135759780A>T	ENSP00000264977:p.Gln781Leu					PPP2R3A_uc011blz.1_Missense_Mutation_p.Q45L|PPP2R3A_uc003eqw.1_Missense_Mutation_p.Q160L|PPP2R3A_uc011bma.1_RNA	p.Q781L	NM_002718	NP_002709	Q06190	P2R3A_HUMAN			4	2907	+			781			EF-hand 1.		A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Missense_Mutation	SNP	ENST00000264977.3	37	c.2342A>T	CCDS3087.1	.	.	.	.	.	.	.	.	.	.	A	11.40	1.628326	0.28978	.	.	ENSG00000073711	ENST00000264977;ENST00000490467;ENST00000334546;ENST00000492624	T;T;T;T	0.37235	1.21;1.21;1.21;1.21	5.93	4.76	0.60689	.	0.160896	0.53938	D	0.000043	T	0.34861	0.0912	L	0.38175	1.15	0.53688	D	0.999976	B;B	0.25351	0.101;0.124	B;B	0.37346	0.089;0.247	T	0.10543	-1.0625	10	0.32370	T	0.25	.	12.2664	0.54681	0.8578:0.1422:0.0:0.0	.	160;781	Q06190-2;Q06190	.;P2R3A_HUMAN	L	781;45;160;45	ENSP00000264977:Q781L;ENSP00000419344:Q45L;ENSP00000334748:Q160L;ENSP00000417231:Q45L	ENSP00000264977:Q781L	Q	+	2	0	PPP2R3A	137242470	1.000000	0.71417	0.998000	0.56505	0.019000	0.09904	4.934000	0.63491	1.042000	0.40150	0.533000	0.62120	CAG		PASS	0.478	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1	NM_002718		13	44	13	44	---	---	---	---
CLSTN2	64084	broad.mit.edu	37	3	140123518	140123519	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr3:140123518_140123519GC>TT	ENST00000458420.3	+	4	737_738	c.547_548GC>TT	c.(547-549)GCc>TTc	p.A183F	AC092988.1_ENST00000580582.1_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	183	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.A183F(1)|p.A183V(1)|p.A183S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GCAGGTGGAGGCCATTGACGAG	0.52										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	uc003etn.2																			3	Substitution - Missense(3)		lung(3)	skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						c.(547-549)GCC>TCC|c.(547-549)GCC>GTC		calsyntenin 2 precursor																																				SO:0001583	missense	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140123518G>T|g.chr3:140123519C>T	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	Exception_encountered	3.37:g.140123518_140123519delinsTT	ENSP00000402460:p.Ala183Phe	HNSCC(16;0.037)				CLSTN2_uc003etm.2_Missense_Mutation_p.A183S|CLSTN2_uc003etm.2_Missense_Mutation_p.A183V	p.A183S|p.A183V	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN			4	737|738	+			183			Extracellular (Potential).|Cadherin 2.		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	c.547G>T|c.548C>T	CCDS3112.1																																																																																				PASS	0.520	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		19|20	178|173	19	173	---	---	---	---
U2SURP	23350	broad.mit.edu	37	3	142735709	142735709	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr3:142735709A>T	ENST00000473835.2	+	6	552	c.462A>T	c.(460-462)agA>agT	p.R154S	U2SURP_ENST00000493598.2_Missense_Mutation_p.R154S|U2SURP_ENST00000397933.2_De_novo_Start_OutOfFrame	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	154					RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R154S(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						ATGAAAAAAGAGGTAAAATCT	0.284																																						uc003evh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(460-462)AGA>AGT		U2-associated SR140 protein							58.0	53.0	54.0					3																	142735709		1788	4071	5859	SO:0001583	missense	23350				RNA processing	nucleus	nucleotide binding|RNA binding	g.chr3:142735709A>T	BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"""RNA binding motif (RRM) containing"""	30855	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein a"", ""Ser/Arg-rich domain protein, 140 kDa"", ""U2 associated SR140 protein"""					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.462A>T	3.37:g.142735709A>T	ENSP00000418563:p.Arg154Ser					SR140_uc003evi.1_5'UTR|SR140_uc011bnj.1_Missense_Mutation_p.R154S|SR140_uc003evj.1_RNA|SR140_uc003evk.1_Missense_Mutation_p.R154S	p.R154S	NM_001080415	NP_001073884	O15042	SR140_HUMAN			6	561	+			154					A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Missense_Mutation	SNP	ENST00000473835.2	37	c.462A>T	CCDS46928.1	.	.	.	.	.	.	.	.	.	.	A	16.79	3.219777	0.58560	.	.	ENSG00000163714	ENST00000473835;ENST00000493782;ENST00000319822;ENST00000493598;ENST00000465175	T;T	0.09538	2.98;2.97	5.5	2.87	0.33458	.	0.094454	0.64402	D	0.000001	T	0.04724	0.0128	N	0.21194	0.64	0.80722	D	1	B;P;P	0.44044	0.435;0.825;0.731	B;B;B	0.37650	0.078;0.255;0.13	T	0.42515	-0.9447	10	0.08179	T	0.78	-7.5194	3.583	0.07961	0.6497:0.1386:0.0782:0.1336	.	154;154;154	B4DK81;O15042-2;O15042	.;.;SR140_HUMAN	S	154;154;154;154;124	ENSP00000418563:R154S;ENSP00000422011:R154S	ENSP00000322376:R154S	R	+	3	2	U2SURP	144218399	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.731000	0.47343	0.973000	0.38340	0.533000	0.62120	AGA		PASS	0.284	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354603.2	NM_001080415		6	58	6	58	---	---	---	---
HLTF	6596	broad.mit.edu	37	3	148759977	148759977	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr3:148759977C>A	ENST00000310053.5	-	19	2366	c.2173G>T	c.(2173-2175)Gca>Tca	p.A725S	HLTF_ENST00000494055.1_Missense_Mutation_p.A725S|HLTF_ENST00000465259.1_Missense_Mutation_p.A724S|HLTF_ENST00000392912.2_Missense_Mutation_p.A725S	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	725					chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A725S(1)		breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GAAGACACTGCATTTGTAAGA	0.368																																						uc003ewq.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2173-2175)GCA>TCA		helicase-like transcription factor							99.0	98.0	99.0					3																	148759977		2203	4300	6503	SO:0001583	missense	6596				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr3:148759977C>A	L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"""RING-type (C3HC4) zinc fingers"""	11099	protein-coding gene	gene with protein product		603257	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"""	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.2173G>T	3.37:g.148759977C>A	ENSP00000308944:p.Ala725Ser					HLTF_uc003ewr.1_Missense_Mutation_p.A725S|HLTF_uc003ews.1_Missense_Mutation_p.A724S|HLTF_uc010hve.1_Missense_Mutation_p.A724S	p.A725S	NM_139048	NP_620636	Q14527	HLTF_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		19	2391	-			725					D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Missense_Mutation	SNP	ENST00000310053.5	37	c.2173G>T	CCDS33875.1	.	.	.	.	.	.	.	.	.	.	C	5.282	0.237374	0.10023	.	.	ENSG00000071794	ENST00000465259;ENST00000310053;ENST00000392912;ENST00000494055;ENST00000467858	D;D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8;-1.8	5.57	3.4	0.38934	.	.	.	.	.	T	0.66366	0.2782	N	0.14661	0.345	0.21527	N	0.999657	B;B;B	0.21381	0.025;0.055;0.025	B;B;B	0.17979	0.008;0.02;0.02	T	0.48647	-0.9017	9	0.09084	T	0.74	-4.7263	10.261	0.43427	0.0:0.7918:0.0:0.2082	.	725;725;725	Q59GQ7;A8K5B6;Q14527	.;.;HLTF_HUMAN	S	724;725;725;725;189	ENSP00000420745:A724S;ENSP00000308944:A725S;ENSP00000376644:A725S;ENSP00000420429:A725S;ENSP00000420106:A189S	ENSP00000308944:A725S	A	-	1	0	HLTF	150242667	0.060000	0.20803	0.335000	0.25508	0.716000	0.41182	0.437000	0.21543	1.489000	0.48450	0.650000	0.86243	GCA		PASS	0.368	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356064.1			39	119	39	119	---	---	---	---
SLITRK3	22865	broad.mit.edu	37	3	164905718	164905718	+	Silent	SNP	G	G	C			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr3:164905718G>C	ENST00000475390.1	-	2	3344	c.2901C>G	c.(2899-2901)ctC>ctG	p.L967L	SLITRK3_ENST00000241274.3_Silent_p.L967L			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	967					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.L967L(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CCAGGACTTCGAGGTAATCCG	0.388										HNSCC(40;0.11)																												uc003fej.3																			2	Substitution - coding silent(2)		lung(2)	ovary(6)|skin(3)|pancreas(1)	10						c.(2899-2901)CTC>CTG		slit and trk like 3 protein precursor							140.0	138.0	139.0					3																	164905718		2203	4300	6503	SO:0001819	synonymous_variant	22865					integral to membrane		g.chr3:164905718G>C	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2901C>G	3.37:g.164905718G>C		HNSCC(40;0.11)				SLITRK3_uc003fek.2_Silent_p.L967L	p.L967L	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	3345	-			967			Cytoplasmic (Potential).		Q1RMY6	Silent	SNP	ENST00000475390.1	37	c.2901C>G	CCDS3197.1																																																																																				PASS	0.388	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		94	356	94	356	---	---	---	---
MFN1	55669	broad.mit.edu	37	3	179085308	179085308	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr3:179085308C>A	ENST00000471841.1	+	8	961	c.835C>A	c.(835-837)Cgt>Agt	p.R279S	MFN1_ENST00000280653.7_Missense_Mutation_p.R279S|MFN1_ENST00000263969.5_Missense_Mutation_p.R279S	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	279	Dynamin-type G.				mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R279S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			AGCACAGAATCGTATCTTCTT	0.413																																						uc003fjs.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(835-837)CGT>AGT		mitofusin 1							76.0	74.0	75.0					3																	179085308		2203	4300	6503	SO:0001583	missense	55669				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	g.chr3:179085308C>A	AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.835C>A	3.37:g.179085308C>A	ENSP00000420617:p.Arg279Ser					MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Missense_Mutation_p.R307S|MFN1_uc010hxc.2_Missense_Mutation_p.R132S	p.R279S	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		8	961	+	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		279			Cytoplasmic (Potential).		B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Missense_Mutation	SNP	ENST00000471841.1	37	c.835C>A	CCDS3228.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.261477	0.80358	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000539169;ENST00000263969;ENST00000474903	D;D;D;D	0.97328	-4.34;-4.34;-4.34;-4.34	5.3	5.3	0.74995	.	0.152882	0.64402	N	0.000013	D	0.98429	0.9477	M	0.86028	2.79	0.80722	D	1	P;D;D	0.71674	0.946;0.998;0.998	P;D;D	0.63877	0.614;0.919;0.912	D	0.99174	1.0865	10	0.62326	D	0.03	-11.9242	18.9398	0.92601	0.0:1.0:0.0:0.0	.	279;307;279	Q8IWA4-3;Q4AEJ4;Q8IWA4	.;.;MFN1_HUMAN	S	279;279;279;279;142	ENSP00000420617:R279S;ENSP00000280653:R279S;ENSP00000263969:R279S;ENSP00000419926:R142S	ENSP00000263969:R279S	R	+	1	0	MFN1	180568002	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.440000	0.80464	2.473000	0.83533	0.655000	0.94253	CGT		PASS	0.413	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927		24	79	24	79	---	---	---	---
DVL3	1857	broad.mit.edu	37	3	183887879	183887879	+	Silent	SNP	G	G	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr3:183887879G>A	ENST00000313143.3	+	14	1832	c.1584G>A	c.(1582-1584)ggG>ggA	p.G528G	DVL3_ENST00000431765.1_Silent_p.G511G|EIF2B5_ENST00000444495.1_Intron	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	528					canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|intracellular signal transduction (GO:0035556)|non-canonical Wnt signaling pathway (GO:0035567)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|outflow tract septum morphogenesis (GO:0003148)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cell cortex (GO:0005938)	beta-catenin binding (GO:0008013)|frizzled binding (GO:0005109)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)	p.G528G(1)		breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CGCACCCGGGGGCCGCCCCTT	0.682																																						uc003fms.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)|breast(1)	3						c.(1582-1584)GGG>GGA		dishevelled 3							50.0	52.0	51.0					3																	183887879		2203	4300	6503	SO:0001819	synonymous_variant	1857				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity	g.chr3:183887879G>A	D86963	CCDS3253.1	3q27	2013-05-22	2013-05-22		ENSG00000161202	ENSG00000161202		"""Dishevelled homologs"""	3087	protein-coding gene	gene with protein product		601368	"""dishevelled 3 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 3 (Drosophila)"""			8817329	Standard	NM_004423		Approved	KIAA0208	uc003fms.3	Q92997	OTTHUMG00000156841	ENST00000313143.3:c.1584G>A	3.37:g.183887879G>A						DVL3_uc011bqw.1_Silent_p.G511G|DVL3_uc003fmt.2_Silent_p.G199G|DVL3_uc003fmu.2_Silent_p.G360G	p.G528G	NM_004423	NP_004414	Q92997	DVL3_HUMAN	Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)		14	1724	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		528					B4E3E5|D3DNT0|O14642|Q13531|Q8N5E9|Q92607	Silent	SNP	ENST00000313143.3	37	c.1584G>A	CCDS3253.1																																																																																				PASS	0.682	DVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346184.1	NM_004423		24	79	24	79	---	---	---	---
SENP2	59343	broad.mit.edu	37	3	185316794	185316794	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr3:185316794A>G	ENST00000296257.5	+	4	580	c.340A>G	c.(340-342)Aac>Gac	p.N114D	SENP2_ENST00000545472.1_Missense_Mutation_p.N104D|SENP2_ENST00000427465.2_Intron|SENP2_ENST00000465201.1_3'UTR	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	114					cellular protein metabolic process (GO:0044267)|dorsal/ventral axis specification (GO:0009950)|heart development (GO:0007507)|labyrinthine layer development (GO:0060711)|mRNA transport (GO:0051028)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein binding (GO:0032091)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|protein transport (GO:0015031)|regulation of DNA endoreduplication (GO:0032875)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of Wnt signaling pathway (GO:0030111)|spongiotrophoblast layer development (GO:0060712)|trophoblast giant cell differentiation (GO:0060707)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	SUMO-specific protease activity (GO:0016929)	p.N114D(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TGGATCCTGGAACAACATGCT	0.368																																						uc003fpn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(340-342)AAC>GAC		SUMO1/sentrin/SMT3 specific protease 2							134.0	129.0	131.0					3																	185316794		2203	4300	6503	SO:0001583	missense	59343				mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity	g.chr3:185316794A>G	AF151697	CCDS33902.1	3q28	2005-08-17	2005-08-17		ENSG00000163904	ENSG00000163904			23116	protein-coding gene	gene with protein product		608261	"""SUMO1/sentrin/SMT3 specific protease 2"""			11896061, 11489887	Standard	XM_005247690		Approved	SMT3IP2, KIAA1331, DKFZp762A2316, AXAM2	uc003fpn.3	Q9HC62	OTTHUMG00000156658	ENST00000296257.5:c.340A>G	3.37:g.185316794A>G	ENSP00000296257:p.Asn114Asp					SENP2_uc011brv.1_Missense_Mutation_p.N104D|SENP2_uc011brw.1_Intron	p.N114D	NM_021627	NP_067640	Q9HC62	SENP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)		4	511	+	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		114					B4DQ42|Q8IW97|Q96SR2|Q9P2L5	Missense_Mutation	SNP	ENST00000296257.5	37	c.340A>G	CCDS33902.1	.	.	.	.	.	.	.	.	.	.	A	12.11	1.841102	0.32513	.	.	ENSG00000163904	ENST00000430355;ENST00000545472;ENST00000296257	T;T	0.21361	2.01;2.02	5.11	3.95	0.45737	.	0.516357	0.19659	N	0.109039	T	0.09379	0.0231	N	0.08118	0	0.80722	D	1	B;B	0.27498	0.18;0.039	B;B	0.22601	0.04;0.016	T	0.21449	-1.0245	10	0.24483	T	0.36	-1.9976	7.5896	0.28012	0.9048:0.0:0.0952:0.0	.	104;114	B4DQ42;Q9HC62	.;SENP2_HUMAN	D	168;104;114	ENSP00000439653:N104D;ENSP00000296257:N114D	ENSP00000296257:N114D	N	+	1	0	SENP2	186799488	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.191000	0.58372	1.075000	0.40932	0.482000	0.46254	AAC		PASS	0.368	SENP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345159.1	NM_021627		40	150	40	150	---	---	---	---
KNG1	3827	broad.mit.edu	37	3	186450324	186450324	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr3:186450324G>T	ENST00000265023.4	+	7	1003	c.791G>T	c.(790-792)tGc>tTc	p.C264F	RP11-573D15.8_ENST00000354642.2_RNA|KNG1_ENST00000287611.2_Missense_Mutation_p.C264F|KNG1_ENST00000447445.1_Missense_Mutation_p.C228F|RP11-573D15.8_ENST00000599314.1_RNA	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	264					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|inflammatory response (GO:0006954)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|smooth muscle contraction (GO:0006939)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)	p.C264F(2)		endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)		ACCAAGATTTGCGTGGGCTGC	0.493																																						uc011bsa.1																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(790-792)TGC>TTC		kininogen 1 isoform 1	Ouabain(DB01092)						100.0	100.0	100.0					3																	186450324		2203	4300	6503	SO:0001583	missense	3827				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding	g.chr3:186450324G>T		CCDS3281.1, CCDS43183.1, CCDS54695.1	3q27.3	2014-05-15	2004-05-21	2004-05-26	ENSG00000113889	ENSG00000113889		"""Endogenous ligands"""	6383	protein-coding gene	gene with protein product	"""alpha-2-thiol proteinase inhibitor"", ""bradykinin"""	612358	"""kininogen"""	KNG, BDK		1733668	Standard	NM_000893		Approved	BK	uc011bsa.2	P01042	OTTHUMG00000150348	ENST00000265023.4:c.791G>T	3.37:g.186450324G>T	ENSP00000265023:p.Cys264Phe					KNG1_uc003fqr.2_Missense_Mutation_p.C264F	p.C264F	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	7	1003	+	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		264			Cystatin 3.		A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Missense_Mutation	SNP	ENST00000265023.4	37	c.791G>T	CCDS43183.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.987765	0.53934	.	.	ENSG00000113889	ENST00000287611;ENST00000265023;ENST00000447445;ENST00000432028	T;T;T	0.36340	1.91;2.25;1.26	5.14	5.14	0.70334	Proteinase inhibitor I25, cystatin (1);	0.000000	0.64402	D	0.000004	T	0.65523	0.2699	M	0.89414	3.03	0.28990	N	0.888123	D;D	0.89917	0.999;1.0	D;D	0.81914	0.99;0.995	T	0.66217	-0.5979	10	0.87932	D	0	-14.694	14.8298	0.70139	0.0:0.0:1.0:0.0	.	264;264	P01042;P01042-2	KNG1_HUMAN;.	F	264;264;228;252	ENSP00000287611:C264F;ENSP00000265023:C264F;ENSP00000396025:C228F	ENSP00000265023:C264F	C	+	2	0	KNG1	187933018	0.986000	0.35501	0.097000	0.21041	0.004000	0.04260	4.708000	0.61859	2.781000	0.95711	0.650000	0.86243	TGC		PASS	0.493	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317738.1	NM_001102416		50	158	50	158	---	---	---	---
MAN2B2	23324	broad.mit.edu	37	4	6611581	6611581	+	Missense_Mutation	SNP	C	C	T	rs140604370	byFrequency	TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr4:6611581C>T	ENST00000285599.3	+	13	2099	c.2063C>T	c.(2062-2064)cCg>cTg	p.P688L	MAN2B2_ENST00000504960.1_3'UTR|MAN2B2_ENST00000504248.1_Missense_Mutation_p.P637L	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	688					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)	p.P688L(1)		breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						ACCCATGTGCCGCAGGGCCAT	0.602																																						uc003gjf.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2062-2064)CCG>CTG		mannosidase, alpha, class 2B, member 2							65.0	67.0	66.0					4																	6611581		2203	4300	6503	SO:0001583	missense	23324				mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding	g.chr4:6611581C>T	BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"""core-specific lysosomal alpha-1,6-Mannosidase"""					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.2063C>T	4.37:g.6611581C>T	ENSP00000285599:p.Pro688Leu					MAN2B2_uc003gje.1_Missense_Mutation_p.P688L|MAN2B2_uc011bwf.1_Missense_Mutation_p.P637L	p.P688L	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN			13	2099	+			688					Q66MP2|Q86T67	Missense_Mutation	SNP	ENST00000285599.3	37	c.2063C>T	CCDS33951.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	14.36|14.36	2.513564|2.513564	0.44763|0.44763	.|.	.|.	ENSG00000013288|ENSG00000013288	ENST00000285599;ENST00000504248|ENST00000505907	T;D|.	0.84944|.	-1.47;-1.92|.	4.28|4.28	3.4|3.4	0.38934|0.38934	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);|.	0.186661|.	0.47093|.	D|.	0.000248|.	T|T	0.71392|0.71392	0.3334|0.3334	M|M	0.76328|0.76328	2.33|2.33	0.58432|0.58432	D|D	0.999996|0.999996	D;D;P|.	0.59767|.	0.986;0.976;0.579|.	P;P;B|.	0.55345|.	0.774;0.774;0.115|.	T|T	0.70561|0.70561	-0.4838|-0.4838	10|5	0.25106|.	T|.	0.35|.	-10.5921|-10.5921	11.9922|11.9922	0.53182|0.53182	0.181:0.819:0.0:0.0|0.181:0.819:0.0:0.0	.|.	637;688;688|.	E9PCD7;Q9Y2E5;Q9Y2E5-2|.	.;MA2B2_HUMAN;.|.	L|C	688;637|687	ENSP00000285599:P688L;ENSP00000423129:P637L|.	ENSP00000285599:P688L|.	P|R	+|+	2|1	0|0	MAN2B2|MAN2B2	6662482|6662482	0.994000|0.994000	0.37717|0.37717	0.012000|0.012000	0.15200|0.15200	0.007000|0.007000	0.05969|0.05969	3.191000|3.191000	0.50981|0.50981	0.722000|0.722000	0.32252|0.32252	0.558000|0.558000	0.71614|0.71614	CCG|CGC		PASS	0.602	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	NM_015274		12	61	12	61	---	---	---	---
RASL11B	65997	broad.mit.edu	37	4	53728716	53728716	+	Silent	SNP	C	C	G			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr4:53728716C>G	ENST00000248706.3	+	1	260	c.42C>G	c.(40-42)ccC>ccG	p.P14P		NM_023940.2	NP_076429.1			RAS-like, family 11, member B									p.P14P(1)		autonomic_ganglia(1)|central_nervous_system(1)|lung(5)|ovary(1)|stomach(1)	9			LUSC - Lung squamous cell carcinoma(32;0.0302)			CCGAGTACCCCGCGCCGGGCA	0.721																																						uc003gzt.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(40-42)CCC>CCG		RAS-like family 11 member B							13.0	16.0	15.0					4																	53728716		2174	4267	6441	SO:0001819	synonymous_variant	65997				small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity	g.chr4:53728716C>G	BK001672	CCDS3490.1	4q12	2014-05-09			ENSG00000128045	ENSG00000128045			23804	protein-coding gene	gene with protein product		612404					Standard	NM_023940		Approved		uc003gzt.3	Q9BPW5	OTTHUMG00000102097	ENST00000248706.3:c.42C>G	4.37:g.53728716C>G							p.P14P	NM_023940	NP_076429	Q9BPW5	RSLBB_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.0302)		1	222	+			14						Silent	SNP	ENST00000248706.3	37	c.42C>G	CCDS3490.1																																																																																				PASS	0.721	RASL11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219931.2	NM_023940		9	36	9	36	---	---	---	---
GPRIN3	285513	broad.mit.edu	37	4	90170193	90170193	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr4:90170193G>T	ENST00000609438.1	-	2	1587	c.1069C>A	c.(1069-1071)Cag>Aag	p.Q357K	GPRIN3_ENST00000333209.4_Missense_Mutation_p.Q357K	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	357								p.Q357K(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		ACACGCAGCTGCTCTTGTTCA	0.592																																						uc003hsm.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1069-1071)CAG>AAG		G protein-regulated inducer of neurite outgrowth							64.0	59.0	60.0					4																	90170193		2203	4300	6503	SO:0001583	missense	285513							g.chr4:90170193G>T	AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.1069C>A	4.37:g.90170193G>T	ENSP00000476603:p.Gln357Lys						p.Q357K	NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)	2	1588	-		Hepatocellular(203;0.114)	357					Q8IVE4	Missense_Mutation	SNP	ENST00000609438.1	37	c.1069C>A	CCDS34030.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.765636	0.31228	.	.	ENSG00000185477	ENST00000333209	T	0.12879	2.64	5.65	4.78	0.61160	.	0.000000	0.32244	N	0.006377	T	0.11110	0.0271	L	0.32530	0.975	0.32261	N	0.570105	B	0.32753	0.383	B	0.32724	0.151	T	0.09292	-1.0681	10	0.48119	T	0.1	-9.629	9.5945	0.39565	0.0:0.3093:0.5481:0.1426	.	357	Q6ZVF9	GRIN3_HUMAN	K	357	ENSP00000328672:Q357K	ENSP00000328672:Q357K	Q	-	1	0	GPRIN3	90389216	1.000000	0.71417	0.995000	0.50966	0.076000	0.17211	1.642000	0.37207	1.565000	0.49641	0.655000	0.94253	CAG		PASS	0.592	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2	NM_198281		53	57	53	57	---	---	---	---
QRFPR	84109	broad.mit.edu	37	4	122301659	122301659	+	Silent	SNP	G	G	C			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr4:122301659G>C	ENST00000394427.2	-	1	555	c.144C>G	c.(142-144)ctC>ctG	p.L48L	QRFPR_ENST00000334383.5_Silent_p.L48L	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	48					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)	p.L48L(1)		endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						CGGTGAGCACGAGGGCCAGCT	0.652																																						uc010inj.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(142-144)CTC>CTG		G protein-coupled receptor 103							46.0	42.0	43.0					4																	122301659		2203	4300	6503	SO:0001819	synonymous_variant	84109					plasma membrane	neuropeptide Y receptor activity	g.chr4:122301659G>C	AF411117	CCDS3719.1	4q27	2012-08-10	2008-12-18	2008-12-18	ENSG00000186867	ENSG00000186867		"""GPCR / Class A : RF amide peptide receptors"""	15565	protein-coding gene	gene with protein product		606925	"""G protein-coupled receptor 103"""	GPR103		11574155	Standard	NM_198179		Approved		uc010inj.1	Q96P65	OTTHUMG00000133036	ENST00000394427.2:c.144C>G	4.37:g.122301659G>C						QRFPR_uc010ink.1_RNA|QRFPR_uc003ids.2_Silent_p.L48L|QRFPR_uc010inl.1_Silent_p.L48L	p.L48L	NM_198179	NP_937822	Q96P65	QRFPR_HUMAN			1	523	-			48			Helical; Name=1; (Potential).			Silent	SNP	ENST00000394427.2	37	c.144C>G	CCDS3719.1																																																																																				PASS	0.652	QRFPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256641.2	NM_198179		4	21	4	21	---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126412763	126412763	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr4:126412763A>G	ENST00000394329.3	+	17	14799	c.14786A>G	c.(14785-14787)aAc>aGc	p.N4929S	FAT4_ENST00000335110.5_Missense_Mutation_p.N3170S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4929					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N4929S(1)|p.N4872S(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGGACTTTCAACTGGGACAAC	0.532																																						uc003ifj.3																			2	Substitution - Missense(2)		lung(2)	ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(14785-14787)AAC>AGC		FAT tumor suppressor homolog 4 precursor							65.0	62.0	63.0					4																	126412763		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126412763A>G	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.14786A>G	4.37:g.126412763A>G	ENSP00000377862:p.Asn4929Ser					FAT4_uc011cgp.1_Missense_Mutation_p.N3170S|FAT4_uc003ifi.1_Missense_Mutation_p.N2406S	p.N4929S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			17	14786	+			4929			Cytoplasmic (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.14786A>G	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	A	11.02	1.516799	0.27123	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.73363	-0.53;-0.74	4.99	4.99	0.66335	.	0.000000	0.37219	U	0.002190	T	0.71476	0.3344	L	0.43152	1.355	0.53005	D	0.99996	D;D;D	0.61080	0.974;0.989;0.974	P;P;P	0.49332	0.582;0.607;0.582	T	0.68198	-0.5472	10	0.19147	T	0.46	.	13.8989	0.63790	1.0:0.0:0.0:0.0	.	3170;4929;4928	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	S	4929;3170	ENSP00000377862:N4929S;ENSP00000335169:N3170S	ENSP00000335169:N3170S	N	+	2	0	FAT4	126632213	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.349000	0.79376	1.880000	0.54463	0.402000	0.26972	AAC		PASS	0.532	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		21	46	21	46	---	---	---	---
SH3RF1	57630	broad.mit.edu	37	4	170038713	170038713	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr4:170038713G>T	ENST00000284637.9	-	9	2079	c.1738C>A	c.(1738-1740)Caa>Aaa	p.Q580K	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	580					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|protein ubiquitination (GO:0016567)|regulation of JNK cascade (GO:0046328)	cell projection (GO:0042995)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.Q580K(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		ACTGTCATTTGCCCCGTCATG	0.542																																						uc003isa.1																			1	Substitution - Missense(1)		lung(1)	breast(2)|lung(1)	3						c.(1738-1740)CAA>AAA		SH3 domain containing ring finger 1							102.0	89.0	93.0					4																	170038713		2203	4300	6503	SO:0001583	missense	57630					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding	g.chr4:170038713G>T	BC033203	CCDS34099.1	4q32.3	2013-01-09	2006-02-13	2006-02-13	ENSG00000154447	ENSG00000154447		"""RING-type (C3HC4) zinc fingers"""	17650	protein-coding gene	gene with protein product	"""plenty of SH3 domains"""		"""SH3 multiple domains 2"""	SH3MD2		9482736	Standard	NM_020870		Approved	POSH, RNF142, KIAA1494	uc003isa.1	Q7Z6J0	OTTHUMG00000161010	ENST00000284637.9:c.1738C>A	4.37:g.170038713G>T	ENSP00000284637:p.Gln580Lys					SH3RF1_uc010irc.1_Missense_Mutation_p.Q280K	p.Q580K	NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)	9	2073	-		Prostate(90;0.00267)|Renal(120;0.0183)	580					Q05BT2|Q8IW46|Q9HAM2|Q9P234	Missense_Mutation	SNP	ENST00000284637.9	37	c.1738C>A	CCDS34099.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.440354	0.83993	.	.	ENSG00000154447	ENST00000284637	T	0.14391	2.51	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.37732	0.1014	M	0.73217	2.22	0.80722	D	1	D	0.63880	0.993	D	0.67548	0.952	T	0.02093	-1.1215	10	0.38643	T	0.18	-17.2877	19.4846	0.95024	0.0:0.0:1.0:0.0	.	580	Q7Z6J0	SH3R1_HUMAN	K	580	ENSP00000284637:Q580K	ENSP00000284637:Q580K	Q	-	1	0	SH3RF1	170275288	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	9.230000	0.95299	2.604000	0.88044	0.561000	0.74099	CAA		PASS	0.542	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363382.3	NM_020870		66	112	66	112	---	---	---	---
MORF4	10934	broad.mit.edu	37	4	174537102	174537102	+	IGR	SNP	A	A	T			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr4:174537102A>T								RP11-475B2.1 (21395 upstream) : RP11-161D15.2 (280442 downstream)																							CAGCTTTCCGATGGTACTCAG	0.398																																						uc011cke.1																			0					0						c.(691-693)CAT>CAA		mortality factor 4							72.0	62.0	65.0					4																	174537102		2203	4300	6503	SO:0001628	intergenic_variant	10934							g.chr4:174537102A>T																													4.37:g.174537102A>T							p.H231Q	NM_006792	NP_006783				all cancers(43;1.88e-18)|Epithelial(43;1.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)	1	693	-		Prostate(90;0.00201)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0765)|all_hematologic(60;0.107)							Missense_Mutation	SNP		37	c.693T>A																																																																																				0	PASS	0.398									58	56	58	56	---	---	---	---
SLC6A18	348932	broad.mit.edu	37	5	1242883	1242883	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr5:1242883T>C	ENST00000324642.3	+	8	1159	c.1036T>C	c.(1036-1038)Tac>Cac	p.Y346H	SLC6A18_ENST00000296821.4_Intron	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	346					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)	p.Y346H(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CAGGGACGACTACCCAGCCGT	0.602																																						uc003jby.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1036-1038)TAC>CAC		solute carrier family 6, member 18							162.0	133.0	143.0					5																	1242883		2203	4300	6503	SO:0001583	missense	348932				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1242883T>C	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"""Solute carriers"""	26441	protein-coding gene	gene with protein product		610300	"""solute carrier family 6 (neurotransmitter transporter), member 18"", ""solute carrier family 6, member 18"""			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.1036T>C	5.37:g.1242883T>C	ENSP00000323549:p.Tyr346His						p.Y346H	NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		8	1159	+	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		346			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000324642.3	37	c.1036T>C	CCDS3860.1	.	.	.	.	.	.	.	.	.	.	T	13.01	2.107920	0.37242	.	.	ENSG00000164363	ENST00000324642	T	0.75367	-0.93	4.71	3.56	0.40772	.	0.283763	0.29286	N	0.012598	D	0.85682	0.5753	M	0.88105	2.93	0.37163	D	0.902661	D	0.89917	1.0	D	0.79108	0.992	D	0.86630	0.1885	10	0.66056	D	0.02	.	7.5537	0.27812	0.0:0.0995:0.0:0.9005	.	346	Q96N87	S6A18_HUMAN	H	346	ENSP00000323549:Y346H	ENSP00000323549:Y346H	Y	+	1	0	SLC6A18	1295883	1.000000	0.71417	0.001000	0.08648	0.075000	0.17131	6.164000	0.71885	0.678000	0.31325	0.459000	0.35465	TAC		PASS	0.602	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	NM_182632		35	186	35	186	---	---	---	---
NDUFS6	4726	broad.mit.edu	37	5	1816017	1816017	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr5:1816017A>G	ENST00000274137.5	+	4	380	c.362A>G	c.(361-363)cAg>cGg	p.Q121R		NM_004553.4	NP_004544.1	O75380	NDUS6_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)	121					cardiovascular system development (GO:0072358)|cellular metabolic process (GO:0044237)|fatty acid metabolic process (GO:0006631)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrion morphogenesis (GO:0070584)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|muscle contraction (GO:0006936)|reproductive system development (GO:0061458)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	electron carrier activity (GO:0009055)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.Q121R(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	7						CAGTTCAGACAGCACCACCAC	0.517																																						uc003jcy.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(361-363)CAG>CGG		NADH dehydrogenase (ubiquinone) Fe-S protein 6,	NADH(DB00157)						65.0	69.0	68.0					5																	1816017		2203	4300	6503	SO:0001583	missense	4726				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity	g.chr5:1816017A>G	BC038664	CCDS3866.1	5p15.33	2011-07-04	2002-08-29		ENSG00000145494	ENSG00000145494	1.6.99.3, 1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7713	protein-coding gene	gene with protein product	"""complex I 13kDa subunit A"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial"""	603848	"""NADH dehydrogenase (ubiquinone) Fe-S protein 6 (13kD) (NADH-coenzyme Q reductase)"""			9763677	Standard	NM_004553		Approved	CI-13kA	uc003jcy.3	O75380	OTTHUMG00000090372	ENST00000274137.5:c.362A>G	5.37:g.1816017A>G	ENSP00000274137:p.Gln121Arg						p.Q121R	NM_004553	NP_004544	O75380	NDUS6_HUMAN			4	385	+			121						Missense_Mutation	SNP	ENST00000274137.5	37	c.362A>G	CCDS3866.1	.	.	.	.	.	.	.	.	.	.	A	14.30	2.493341	0.44352	.	.	ENSG00000145494	ENST00000274137	T	0.77620	-1.11	4.44	4.44	0.53790	Zinc finger, CHCC-type (1);	0.113821	0.64402	D	0.000010	T	0.72724	0.3496	L	0.52573	1.65	0.80722	D	1	P	0.38300	0.626	B	0.38803	0.282	T	0.73839	-0.3856	10	0.42905	T	0.14	-11.8741	13.0286	0.58829	1.0:0.0:0.0:0.0	.	121	O75380	NDUS6_HUMAN	R	121	ENSP00000274137:Q121R	ENSP00000274137:Q121R	Q	+	2	0	NDUFS6	1869017	1.000000	0.71417	0.241000	0.24154	0.134000	0.20937	6.895000	0.75660	1.772000	0.52199	0.529000	0.55759	CAG		PASS	0.517	NDUFS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206744.2	NM_004553		23	234	23	234	---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13845038	13845038	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr5:13845038C>G	ENST00000265104.4	-	32	5283	c.5179G>C	c.(5179-5181)Gag>Cag	p.E1727Q		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1727	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E1727Q(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCCAGAATCTCTAGAAGGGCA	0.448									Kartagener syndrome																													uc003jfd.2																			1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(5179-5181)GAG>CAG		dynein, axonemal, heavy chain 5							87.0	91.0	90.0					5																	13845038		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13845038C>G	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.5179G>C	5.37:g.13845038C>G	ENSP00000265104:p.Glu1727Gln						p.E1727Q	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			32	5221	-	Lung NSC(4;0.00476)		1727			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.5179G>C	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.790622	0.70452	.	.	ENSG00000039139	ENST00000265104	T	0.65364	-0.15	5.09	5.09	0.68999	Dynein heavy chain, domain-2 (1);	0.106331	0.64402	D	0.000007	D	0.84506	0.5487	M	0.93638	3.44	0.80722	D	1	P	0.42735	0.788	P	0.61397	0.888	D	0.88147	0.2848	10	0.87932	D	0	.	18.588	0.91197	0.0:1.0:0.0:0.0	.	1727	Q8TE73	DYH5_HUMAN	Q	1727	ENSP00000265104:E1727Q	ENSP00000265104:E1727Q	E	-	1	0	DNAH5	13898038	1.000000	0.71417	1.000000	0.80357	0.267000	0.26476	7.658000	0.83755	2.384000	0.81235	0.650000	0.86243	GAG		PASS	0.448	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		7	333	7	333	---	---	---	---
MYO10	4651	broad.mit.edu	37	5	16754955	16754955	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr5:16754955G>C	ENST00000513610.1	-	19	2365	c.1911C>G	c.(1909-1911)atC>atG	p.I637M		NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	637	Myosin motor.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)	p.I637M(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TGTTTGGCTTGATACAGCGAA	0.428																																						uc003jft.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1909-1911)ATC>ATG		myosin X							63.0	62.0	63.0					5																	16754955		1970	4171	6141	SO:0001583	missense	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16754955G>C	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.1911C>G	5.37:g.16754955G>C	ENSP00000421280:p.Ile637Met					MYO10_uc010itx.2_Missense_Mutation_p.I260M	p.I637M	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN			19	2379	-			637			Myosin head-like.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	c.1911C>G	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.375609	0.61735	.	.	ENSG00000145555	ENST00000513610;ENST00000513882	D;D	0.92048	-2.96;-2.96	5.77	4.9	0.64082	Myosin head, motor domain (2);	.	.	.	.	D	0.97250	0.9101	H	0.96547	3.84	0.80722	D	1	P;D	0.71674	0.497;0.998	P;D	0.72625	0.448;0.978	D	0.98316	1.0526	9	0.87932	D	0	.	14.7933	0.69860	0.0689:0.0:0.9311:0.0	.	278;637	Q69YP8;Q9HD67	.;MYO10_HUMAN	M	637;648	ENSP00000421280:I637M;ENSP00000421309:I648M	ENSP00000421280:I637M	I	-	3	3	MYO10	16807955	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.342000	0.65970	1.446000	0.47643	0.561000	0.74099	ATC		PASS	0.428	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		10	47	10	47	---	---	---	---
CDH12	1010	broad.mit.edu	37	5	21752226	21752226	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr5:21752226C>G	ENST00000382254.1	-	15	3091	c.2005G>C	c.(2005-2007)Gat>Cat	p.D669H	CDH12_ENST00000522262.1_Missense_Mutation_p.D629H|CDH12_ENST00000504376.2_Missense_Mutation_p.D669H|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	669					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D669H(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GCCTGGGTATCTTCCTCCCCA	0.468										HNSCC(59;0.17)																												uc010iuc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2005-2007)GAT>CAT		cadherin 12, type 2 preproprotein							119.0	107.0	111.0					5																	21752226		2203	4300	6503	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21752226C>G	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.2005G>C	5.37:g.21752226C>G	ENSP00000371689:p.Asp669His	HNSCC(59;0.17)				CDH12_uc011cno.1_Missense_Mutation_p.D629H|CDH12_uc003jgk.2_Missense_Mutation_p.D669H|uc003jgj.2_Intron	p.D669H	NM_004061	NP_004052	P55289	CAD12_HUMAN			12	2463	-			669			Cytoplasmic (Potential).		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.2005G>C	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.990034	0.74589	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	D;D;D	0.87103	-2.21;-2.21;-2.21	5.21	5.21	0.72293	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.96346	0.8808	H	0.97806	4.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98001	1.0360	10	0.87932	D	0	.	18.7484	0.91804	0.0:1.0:0.0:0.0	.	629;669	B7Z2U6;P55289	.;CAD12_HUMAN	H	669;669;629	ENSP00000423577:D669H;ENSP00000371689:D669H;ENSP00000428786:D629H	ENSP00000371689:D669H	D	-	1	0	CDH12	21787983	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.487000	0.81328	2.442000	0.82660	0.467000	0.42956	GAT		PASS	0.468	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		19	306	19	306	---	---	---	---
CDH10	1008	broad.mit.edu	37	5	24488152	24488152	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr5:24488152C>A	ENST00000264463.4	-	12	2494	c.1987G>T	c.(1987-1989)Gga>Tga	p.G663*	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	663					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.G663*(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TCCTCCTCTCCACCACCCTCA	0.453										HNSCC(23;0.051)																												uc003jgr.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(6)|pancreas(4)|breast(2)	12						c.(1987-1989)GGA>TGA		cadherin 10, type 2 preproprotein							65.0	67.0	66.0					5																	24488152		2203	4300	6503	SO:0001587	stop_gained	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24488152C>A	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1987G>T	5.37:g.24488152C>A	ENSP00000264463:p.Gly663*	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.G663*	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	12	2319	-			663			Cytoplasmic (Potential).		Q9ULB3	Nonsense_Mutation	SNP	ENST00000264463.4	37	c.1987G>T	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	C	42	9.502866	0.99189	.	.	ENSG00000040731	ENST00000264463	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.2978	0.90153	0.0:1.0:0.0:0.0	.	.	.	.	X	663	.	ENSP00000264463:G663X	G	-	1	0	CDH10	24523909	1.000000	0.71417	0.343000	0.25615	0.610000	0.37248	7.657000	0.83745	2.580000	0.87095	0.655000	0.94253	GGA		PASS	0.453	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		51	242	51	242	---	---	---	---
CDH10	1008	broad.mit.edu	37	5	24535363	24535363	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr5:24535363G>C	ENST00000264463.4	-	5	1179	c.672C>G	c.(670-672)aaC>aaG	p.N224K		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	224	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.N224K(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CTCTGTTCATGTTCGGTAAAG	0.408										HNSCC(23;0.051)																												uc003jgr.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|pancreas(4)|breast(2)	12						c.(670-672)AAC>AAG		cadherin 10, type 2 preproprotein							182.0	149.0	160.0					5																	24535363		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24535363G>C	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.672C>G	5.37:g.24535363G>C	ENSP00000264463:p.Asn224Lys	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.N224K	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	5	1004	-			224			Cadherin 2.|Extracellular (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.672C>G	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.222109	0.58560	.	.	ENSG00000040731	ENST00000264463	T	0.01705	4.68	5.69	1.94	0.25998	Cadherin (4);Cadherin-like (1);	0.094640	0.64402	D	0.000001	T	0.02571	0.0078	N	0.05574	-0.02	0.40367	D	0.979304	D	0.64830	0.994	P	0.62382	0.901	T	0.61362	-0.7078	10	0.87932	D	0	.	9.4676	0.38822	0.3772:0.0:0.6228:0.0	.	224	Q9Y6N8	CAD10_HUMAN	K	224	ENSP00000264463:N224K	ENSP00000264463:N224K	N	-	3	2	CDH10	24571120	1.000000	0.71417	0.999000	0.59377	0.948000	0.59901	1.045000	0.30341	0.070000	0.16634	-0.137000	0.14449	AAC		PASS	0.408	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		66	178	66	178	---	---	---	---
ADAMTS12	81792	broad.mit.edu	37	5	33527326	33527326	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr5:33527326C>A	ENST00000504830.1	-	24	5087	c.4752G>T	c.(4750-4752)agG>agT	p.R1584S	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R1499S	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1584					cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R1584S(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GCAACCGTTGCCTTCTTTGCC	0.527										HNSCC(64;0.19)																												uc003jia.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(4750-4752)AGG>AGT		ADAM metallopeptidase with thrombospondin type 1							279.0	252.0	261.0					5																	33527326		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33527326C>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.4752G>T	5.37:g.33527326C>A	ENSP00000422554:p.Arg1584Ser	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.R1499S	p.R1584S	NM_030955	NP_112217	P58397	ATS12_HUMAN			24	4915	-			1584					A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.4752G>T	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.968708	0.34754	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.58506	0.33;0.33	5.69	-2.69	0.06022	.	0.631807	0.14701	N	0.303577	T	0.26955	0.0660	N	0.08118	0	0.09310	N	0.999996	B;B	0.10296	0.003;0.002	B;B	0.09377	0.004;0.001	T	0.09729	-1.0661	10	0.56958	D	0.05	.	1.1497	0.01783	0.1378:0.2076:0.2678:0.3868	.	1499;1584	P58397-3;P58397	.;ATS12_HUMAN	S	1584;1499	ENSP00000422554:R1584S;ENSP00000344847:R1499S	ENSP00000344847:R1499S	R	-	3	2	ADAMTS12	33563083	0.065000	0.20965	0.004000	0.12327	0.037000	0.13140	-0.521000	0.06245	-0.176000	0.10707	0.655000	0.94253	AGG		PASS	0.527	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		62	523	62	523	---	---	---	---
PTGER4	5734	broad.mit.edu	37	5	40681532	40681532	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr5:40681532C>A	ENST00000302472.3	+	2	1461	c.437C>A	c.(436-438)tCc>tAc	p.S146Y	PTGER4_ENST00000514343.1_3'UTR	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	146					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|bone development (GO:0060348)|cellular response to mechanical stimulus (GO:0071260)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|JNK cascade (GO:0007254)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of eosinophil extravasation (GO:2000420)|negative regulation of inflammatory response (GO:0050728)|negative regulation of integrin activation (GO:0033624)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|regulation of ossification (GO:0030278)|regulation of stress fiber assembly (GO:0051492)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|T-helper cell differentiation (GO:0042093)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)	p.S146Y(1)		breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23					Dinoprostone(DB00917)|Misoprostol(DB00929)	GTCTATGCGTCCAACGTGCTC	0.582											OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003jlz.2																			1	Substitution - Missense(1)		lung(1)	lung(2)	2						c.(436-438)TCC>TAC		prostaglandin E receptor 4, subtype EP4							99.0	97.0	98.0					5																	40681532		2203	4300	6503	SO:0001583	missense	5734				G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity	g.chr5:40681532C>A	L28175	CCDS3930.1	5p13.1	2012-08-08			ENSG00000171522	ENSG00000171522		"""GPCR / Class A : Prostanoid receptors"""	9596	protein-coding gene	gene with protein product		601586				7759114, 8661119	Standard	NM_000958		Approved	EP4	uc003jlz.3	P35408	OTTHUMG00000094769	ENST00000302472.3:c.437C>A	5.37:g.40681532C>A	ENSP00000302846:p.Ser146Tyr		OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	895		p.S146Y	NM_000958	NP_000949	P35408	PE2R4_HUMAN			2	1029	+			146			Helical; Name=4; (Potential).		Q3MJ87	Missense_Mutation	SNP	ENST00000302472.3	37	c.437C>A	CCDS3930.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.071278	0.55646	.	.	ENSG00000171522	ENST00000302472	T	0.71934	-0.61	5.42	5.42	0.78866	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.67933	0.2946	L	0.59436	1.845	0.58432	D	0.999998	B	0.28470	0.213	B	0.34346	0.18	T	0.64123	-0.6481	10	0.02654	T	1	-27.2845	19.2158	0.93778	0.0:1.0:0.0:0.0	.	146	P35408	PE2R4_HUMAN	Y	146	ENSP00000302846:S146Y	ENSP00000302846:S146Y	S	+	2	0	PTGER4	40717289	1.000000	0.71417	0.997000	0.53966	0.825000	0.46686	4.089000	0.57685	2.552000	0.86080	0.561000	0.74099	TCC		PASS	0.582	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211578.2	NM_000958		14	285	14	285	---	---	---	---
FBXO4	26272	broad.mit.edu	37	5	41927307	41927307	+	Missense_Mutation	SNP	A	A	G	rs369814713		TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr5:41927307A>G	ENST00000281623.3	+	2	438	c.382A>G	c.(382-384)Ata>Gta	p.I128V	FBXO4_ENST00000509134.1_Missense_Mutation_p.I128V|FBXO4_ENST00000296812.2_Missense_Mutation_p.I128V	NM_012176.2	NP_036308.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	128					positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|telomere maintenance (GO:0000723)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)	p.I128V(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				AAAAAAGCCTATATCTGAGGT	0.348																																						uc003jmq.2																			1	Substitution - Missense(1)		lung(1)	liver(1)	1						c.(382-384)ATA>GTA		F-box only protein 4 isoform 1		A	VAL/ILE,VAL/ILE	1,4405	2.1+/-5.4	0,1,2202	124.0	127.0	126.0		382,382	-7.0	0.3	5		126	0,8600		0,0,4300	no	missense,missense	FBXO4	NM_033484.2,NM_012176.2	29,29	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	benign,benign	128/308,128/388	41927307	1,13005	2203	4300	6503	SO:0001583	missense	26272				positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity	g.chr5:41927307A>G	AF129534	CCDS3938.1, CCDS3939.1, CCDS75238.1	5p12	2008-02-05	2004-06-15		ENSG00000151876	ENSG00000151876		"""F-boxes /  ""other"""""	13583	protein-coding gene	gene with protein product		609090	"""F-box only protein 4"""			10531035, 10531037	Standard	NM_033484		Approved	FBX4	uc003jmq.3	Q9UKT5	OTTHUMG00000094799	ENST00000281623.3:c.382A>G	5.37:g.41927307A>G	ENSP00000281623:p.Ile128Val					FBXO4_uc003jmp.2_Missense_Mutation_p.I128V|FBXO4_uc003jmr.2_Missense_Mutation_p.I128V	p.I128V	NM_012176	NP_036308	Q9UKT5	FBX4_HUMAN			2	438	+		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)	128					Q68CU8|Q86VT8|Q9UK98	Missense_Mutation	SNP	ENST00000281623.3	37	c.382A>G	CCDS3938.1	.	.	.	.	.	.	.	.	.	.	A	2.081	-0.410611	0.04799	2.27E-4	0.0	ENSG00000151876	ENST00000296812;ENST00000281623;ENST00000509134	T;T;T	0.41065	1.01;1.01;1.01	5.41	-6.97	0.01616	F-box domain, Skp2-like (1);	0.599517	0.18968	N	0.126211	T	0.11623	0.0283	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.30822	-0.9965	10	0.07325	T	0.83	-2.3775	6.8688	0.24108	0.2815:0.0786:0.525:0.1149	.	128;128;128	D6RAJ6;Q9UKT5;Q9UKT5-2	.;FBX4_HUMAN;.	V	128	ENSP00000296812:I128V;ENSP00000281623:I128V;ENSP00000421749:I128V	ENSP00000281623:I128V	I	+	1	0	FBXO4	41963064	0.017000	0.18338	0.314000	0.25224	0.608000	0.37181	-0.093000	0.11111	-1.411000	0.02032	-1.937000	0.00501	ATA		PASS	0.348	FBXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211614.1			116	310	116	310	---	---	---	---
BDP1	55814	broad.mit.edu	37	5	70844517	70844517	+	Silent	SNP	A	A	G			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr5:70844517A>G	ENST00000358731.4	+	33	7016	c.6753A>G	c.(6751-6753)ccA>ccG	p.P2251P	BDP1_ENST00000380675.2_Silent_p.P387P	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2251					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.P2251P(1)		NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AGTATACACCAACAAGTATTC	0.313																																						uc003kbp.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(6751-6753)CCA>CCG		transcription factor-like nuclear regulator							155.0	155.0	155.0					5																	70844517		1817	4077	5894	SO:0001819	synonymous_variant	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70844517A>G	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.6753A>G	5.37:g.70844517A>G						BDP1_uc003kbq.1_RNA|BDP1_uc003kbr.1_RNA	p.P2251P	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	33	7016	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	2251					Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Silent	SNP	ENST00000358731.4	37	c.6753A>G	CCDS43328.1																																																																																				PASS	0.313	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		24	208	24	208	---	---	---	---
ARSB	411	broad.mit.edu	37	5	78181606	78181606	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr5:78181606G>A	ENST00000264914.4	-	5	1479	c.943C>T	c.(943-945)Cga>Tga	p.R315*	ARSB_ENST00000396151.3_Nonsense_Mutation_p.R315*|ARSB_ENST00000521800.1_5'UTR|ARSB_ENST00000565165.1_Nonsense_Mutation_p.R315*	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	315			R -> Q (in MPS6; intermediate form). {ECO:0000269|PubMed:10036316, ECO:0000269|PubMed:14974081}.		autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|lysosomal transport (GO:0007041)|lysosome organization (GO:0007040)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|rough endoplasmic reticulum (GO:0005791)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)	p.R315*(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		TTTCTTCCTCGAAGGGGCCAG	0.517																																					Melanoma(169;563 1968 25780 26156 52266)	uc003kfq.2																			1	Substitution - Nonsense(1)		lung(1)	upper_aerodigestive_tract(1)	1	GRCh37	CM003996	ARSB	M		c.(943-945)CGA>TGA		arylsulfatase B isoform 1 precursor							95.0	101.0	99.0					5																	78181606		2203	4300	6503	SO:0001587	stop_gained	411				lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity	g.chr5:78181606G>A	M32373	CCDS4043.1, CCDS43334.1	5q14.1	2013-02-14			ENSG00000113273	ENSG00000113273	3.1.6.1	"""Arylsulfatase family"""	714	protein-coding gene	gene with protein product		611542				2303452	Standard	NM_000046		Approved		uc003kfq.3	P15848	OTTHUMG00000108129	ENST00000264914.4:c.943C>T	5.37:g.78181606G>A	ENSP00000264914:p.Arg315*					ARSB_uc003kfr.3_Nonsense_Mutation_p.R315*	p.R315*	NM_000046	NP_000037	P15848	ARSB_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)	5	2229	-		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)	315		R -> Q (in MPS6; intermediate form).			B2RC20|Q8N322|Q9UDI9	Nonsense_Mutation	SNP	ENST00000264914.4	37	c.943C>T	CCDS4043.1	.	.	.	.	.	.	.	.	.	.	G	43	10.455915	0.99408	.	.	ENSG00000113273	ENST00000264914;ENST00000396151	.	.	.	5.46	4.51	0.55191	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.7251	0.57166	0.0:0.0:0.7731:0.2269	.	.	.	.	X	315	.	ENSP00000264914:R315X	R	-	1	2	ARSB	78217362	0.999000	0.42202	0.994000	0.49952	0.968000	0.65278	2.799000	0.47892	2.555000	0.86185	0.561000	0.74099	CGA		PASS	0.517	ARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226932.2	NM_000046		75	128	75	128	---	---	---	---
NSD1	64324	broad.mit.edu	37	5	176673711	176673711	+	Nonsense_Mutation	SNP	C	C	T	rs570278338		TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr5:176673711C>T	ENST00000439151.2	+	10	4456	c.4411C>T	c.(4411-4413)Cga>Tga	p.R1471*	NSD1_ENST00000361032.4_Nonsense_Mutation_p.R1368*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.R1202*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.R1202*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1471					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.R1471*(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GCCAAGGAAGCGAAAACGACA	0.413			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												uc003mfr.3				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		2	Substitution - Nonsense(2)		lung(2)	ovary(2)|kidney(1)	3	GRCh37	CM030071|CM032972	NSD1	M		c.(4411-4413)CGA>TGA		nuclear receptor binding SET domain protein 1							87.0	85.0	86.0					5																	176673711		2203	4300	6503	SO:0001587	stop_gained	64324	Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176673711C>T	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.4411C>T	5.37:g.176673711C>T	ENSP00000395929:p.Arg1471*	HNSCC(47;0.14)				NSD1_uc003mft.3_Nonsense_Mutation_p.R1202*|NSD1_uc003mfs.1_Nonsense_Mutation_p.R1368*|NSD1_uc011dfx.1_Nonsense_Mutation_p.R1119*	p.R1471*	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	10	4549	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1471					Q96PD8|Q96RN7	Nonsense_Mutation	SNP	ENST00000439151.2	37	c.4411C>T	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	C	43	9.941799	0.99300	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	.	.	.	5.65	5.65	0.86999	.	0.000000	0.51477	D	0.000090	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.9987	0.86376	0.0:1.0:0.0:0.0	.	.	.	.	X	1202;1471;1202;1368	.	ENSP00000343209:R1202X	R	+	1	2	NSD1	176606317	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	2.731000	0.47343	2.821000	0.97095	0.650000	0.86243	CGA		PASS	0.413	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		5	67	5	67	---	---	---	---
ZNF354C	30832	broad.mit.edu	37	5	178489082	178489082	+	Silent	SNP	C	C	T	rs149113509		TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr5:178489082C>T	ENST00000315475.6	+	2	319	c.13C>T	c.(13-15)Ctg>Ttg	p.L5L		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	5					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.L5L(1)		endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		GGCTGTGGATCTGCTGTCTGC	0.522																																						uc003mju.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(13-15)CTG>TTG		zinc finger protein 354C		C		0,4406		0,0,2203	345.0	293.0	310.0		13	-2.0	0.0	5	dbSNP_134	310	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ZNF354C	NM_014594.1		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		5/555	178489082	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	30832				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178489082C>T		CCDS4443.1	5q35	2013-01-08			ENSG00000177932	ENSG00000177932		"""Zinc fingers, C2H2-type"", ""-"""	16736	protein-coding gene	gene with protein product						10786630	Standard	NM_014594		Approved	KID3	uc003mju.3	Q86Y25	OTTHUMG00000130888	ENST00000315475.6:c.13C>T	5.37:g.178489082C>T							p.L5L	NM_014594	NP_055409	Q86Y25	Z354C_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)	2	128	+	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	5					Q6P4P9|Q8NFX1	Silent	SNP	ENST00000315475.6	37	c.13C>T	CCDS4443.1																																																																																				PASS	0.522	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253473.2			25	150	25	150	---	---	---	---
RUFY1	80230	broad.mit.edu	37	5	179007956	179007956	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr5:179007956G>C	ENST00000319449.4	+	7	911	c.899G>C	c.(898-900)aGa>aCa	p.R300T	RUFY1_ENST00000437570.2_Missense_Mutation_p.R192T|RUFY1_ENST00000377001.2_Missense_Mutation_p.R300T|RUFY1_ENST00000393438.2_Missense_Mutation_p.R192T	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	300					endocytosis (GO:0006897)|regulation of endocytosis (GO:0030100)	cytoplasm (GO:0005737)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	lipid binding (GO:0008289)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)	p.R192T(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGCATGAAAGAATTACTGAT	0.333										HNSCC(44;0.11)																												uc003mka.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(1)	5						c.(898-900)AGA>ACA		RUN and FYVE domain-containing 1 isoform a							79.0	79.0	79.0					5																	179007956		2203	4300	6503	SO:0001583	missense	80230				endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding	g.chr5:179007956G>C	AF361055	CCDS4445.2, CCDS34312.1	5q35.3	2008-02-05			ENSG00000176783	ENSG00000176783		"""Zinc fingers, FYVE domain containing"""	19760	protein-coding gene	gene with protein product		610327				11877430	Standard	NM_001040451		Approved	FLJ22251, ZFYVE12, RABIP4	uc003mka.2	Q96T51	OTTHUMG00000130913	ENST00000319449.4:c.899G>C	5.37:g.179007956G>C	ENSP00000325594:p.Arg300Thr	HNSCC(44;0.11)				RUFY1_uc003mkb.1_Missense_Mutation_p.R192T|RUFY1_uc003mkc.1_Missense_Mutation_p.R192T	p.R300T	NM_025158	NP_079434	Q96T51	RUFY1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		7	899	+	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	300					Q59FF3|Q71S93|Q9H6I3	Missense_Mutation	SNP	ENST00000319449.4	37	c.899G>C	CCDS4445.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.09|13.09	2.133966|2.133966	0.37630|0.37630	.|.	.|.	ENSG00000176783|ENSG00000176783	ENST00000502434|ENST00000319449;ENST00000377001;ENST00000437570;ENST00000393438	.|T;T;T;T	.|0.76448	.|-1.02;1.88;-1.02;-1.02	5.2|5.2	4.32|4.32	0.51571|0.51571	.|.	.|1.767630	.|0.02520	.|N	.|0.092439	T|T	0.58807|0.58807	0.2148|0.2148	N|N	0.02539|0.02539	-0.55|-0.55	0.26541|0.26541	N|N	0.974077|0.974077	.|B	.|0.29378	.|0.243	.|B	.|0.25987	.|0.065	T|T	0.53222|0.53222	-0.8469|-0.8469	5|10	.|0.49607	.|T	.|0.09	-16.2099|-16.2099	9.3647|9.3647	0.38217|0.38217	0.1527:0.0:0.8473:0.0|0.1527:0.0:0.8473:0.0	.|.	.|300	.|Q96T51	.|RUFY1_HUMAN	N|T	11|300;300;192;192	.|ENSP00000325594:R300T;ENSP00000366200:R300T;ENSP00000390025:R192T;ENSP00000377087:R192T	.|ENSP00000325594:R300T	K|R	+|+	3|2	2|0	RUFY1|RUFY1	178940562|178940562	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	3.427000|3.427000	0.52785|0.52785	2.602000|2.602000	0.87976|0.87976	0.650000|0.650000	0.86243|0.86243	AAG|AGA		PASS	0.333	RUFY1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253505.2	NM_001040451		25	44	25	44	---	---	---	---
TUBB2A	7280	broad.mit.edu	37	6	3154115	3154115	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr6:3154115C>G	ENST00000333628.3	-	4	1382	c.1320G>C	c.(1318-1320)gaG>gaC	p.E440D	TUBB2A_ENST00000489942.1_5'Flank|RP1-40E16.11_ENST00000447644.1_RNA	NM_001069.2	NP_001060.1	Q13885	TBB2A_HUMAN	tubulin, beta 2A class IIa	440					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.E440D(1)		endometrium(2)|large_intestine(4)|lung(2)|skin(1)	9	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				CGTCCTCGCCCTCCTCCTCCT	0.527																																						uc003mvc.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1318-1320)GAG>GAC		tubulin, beta 2							147.0	122.0	131.0					6																	3154115		2203	4300	6503	SO:0001583	missense	7280				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr6:3154115C>G	AY159127	CCDS4484.1	6p25.2	2012-10-02	2011-10-10	2005-11-03	ENSG00000137267	ENSG00000137267		"""Tubulins"""	12412	protein-coding gene	gene with protein product	"""class IIa beta-tubulin"""	615101	"""tubulin, beta polypeptide"", ""tubulin, beta 2"", ""tubulin, beta 2A"""	TUBB, TUBB2		14574404	Standard	NM_001069		Approved	dJ40E16.7	uc003mvc.3	Q13885	OTTHUMG00000014135	ENST00000333628.3:c.1320G>C	6.37:g.3154115C>G	ENSP00000369703:p.Glu440Asp					TUBB2A_uc003mvb.2_Missense_Mutation_p.E433D|TUBB2A_uc003mvd.2_Missense_Mutation_p.E403D	p.E440D	NM_001069	NP_001060	Q13885	TBB2A_HUMAN			4	1406	-	Ovarian(93;0.0386)	all_hematologic(90;0.0895)	440					Q6FGZ8|Q8IWR2	Missense_Mutation	SNP	ENST00000333628.3	37	c.1320G>C	CCDS4484.1	.	.	.	.	.	.	.	.	.	.	C	9.692	1.152198	0.21371	.	.	ENSG00000137267	ENST00000333628;ENST00000392362	T	0.70869	-0.52	5.1	4.22	0.49857	.	0.109571	0.37809	U	0.001928	T	0.37625	0.1010	N	0.16307	0.4	0.34452	D	0.700829	B;B	0.30068	0.267;0.267	B;B	0.36092	0.217;0.217	T	0.40979	-0.9534	10	0.87932	D	0	.	4.6173	0.12433	0.0:0.576:0.1678:0.2562	.	440;440	B2R6L0;Q13885	.;TBB2A_HUMAN	D	440;350	ENSP00000369703:E440D	ENSP00000369703:E440D	E	-	3	2	TUBB2A	3099114	0.025000	0.19082	1.000000	0.80357	0.989000	0.77384	-0.603000	0.05674	1.275000	0.44379	0.650000	0.86243	GAG		PASS	0.527	TUBB2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039662.1	NM_001069		4	102	4	102	---	---	---	---
BTN1A1	696	broad.mit.edu	37	6	26509079	26509079	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr6:26509079C>T	ENST00000244513.6	+	7	1324	c.1258C>T	c.(1258-1260)Cgc>Tgc	p.R420C		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	420	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)	p.R420C(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						AGGGCCCCCACGCCGGGTTGG	0.502																																						uc003nif.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1258-1260)CGC>TGC		butyrophilin, subfamily 1, member A1 precursor							54.0	55.0	55.0					6																	26509079		2203	4300	6503	SO:0001583	missense	696					extracellular region|integral to plasma membrane	receptor activity	g.chr6:26509079C>T	U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1135	protein-coding gene	gene with protein product		601610		BTN		8114113, 9382921	Standard	NM_001732		Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.1258C>T	6.37:g.26509079C>T	ENSP00000244513:p.Arg420Cys						p.R420C	NM_001732	NP_001723	Q13410	BT1A1_HUMAN			7	1278	+			420			B30.2/SPRY.|Cytoplasmic (Potential).		Q4VAN3|Q4VAN4|Q9H458	Missense_Mutation	SNP	ENST00000244513.6	37	c.1258C>T	CCDS4614.1	.	.	.	.	.	.	.	.	.	.	C	1.825	-0.471275	0.04445	.	.	ENSG00000124557	ENST00000244513;ENST00000377586	T	0.71103	-0.54	5.98	3.22	0.36961	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.546890	0.18286	N	0.145882	T	0.38401	0.1039	L	0.48877	1.53	0.09310	N	0.999999	P	0.34662	0.462	B	0.36378	0.223	T	0.20140	-1.0284	10	0.30078	T	0.28	.	2.5589	0.04767	0.1541:0.5385:0.1488:0.1586	.	420	Q13410	BT1A1_HUMAN	C	420	ENSP00000244513:R420C	ENSP00000244513:R420C	R	+	1	0	BTN1A1	26617058	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	0.266000	0.18534	0.840000	0.34995	0.655000	0.94253	CGC		PASS	0.502	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043776.1	NM_001732		13	80	13	80	---	---	---	---
HLA-A	3105	broad.mit.edu	37	6	29911963	29911963	+	Nonsense_Mutation	SNP	G	G	A	rs372503438		TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr6:29911963G>A	ENST00000396634.1	+	6	1025	c.684G>A	c.(682-684)tgG>tgA	p.W228*	HLA-A_ENST00000376809.5_Nonsense_Mutation_p.W228*|HLA-A_ENST00000376806.5_Nonsense_Mutation_p.W228*|HLA-A_ENST00000376802.2_Nonsense_Mutation_p.W228*			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	228	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.W228*(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGAGGTGCTGGGCCCTGGGCT	0.617									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												uc003nol.2																			1	Substitution - Nonsense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(682-684)TGG>TGA		major histocompatibility complex, class I, A							67.0	87.0	80.0					6																	29911963		1509	2706	4215	SO:0001587	stop_gained	3105	Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29911963G>A	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.684G>A	6.37:g.29911963G>A	ENSP00000379873:p.Trp228*	Multiple Myeloma(9;0.094)				HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_5'Flank|HLA-A_uc010jrq.2_Nonsense_Mutation_p.W107*|HLA-A_uc003nok.2_Nonsense_Mutation_p.W107*|HLA-A_uc003non.2_Nonsense_Mutation_p.W228*|HLA-A_uc003noo.2_Nonsense_Mutation_p.W228*|HLA-A_uc010jrr.2_Nonsense_Mutation_p.W228*|HLA-A_uc003nom.2_Nonsense_Mutation_p.W107*|HLA-A_uc010klp.2_Nonsense_Mutation_p.W200*|HLA-A_uc011dmc.1_Nonsense_Mutation_p.W107*|HLA-A_uc011dmd.1_Nonsense_Mutation_p.W107*	p.W228*	NM_002116	NP_002107	P30443	1A01_HUMAN			4	684	+			228			Extracellular (Potential).|Alpha-3.|Ig-like C1-type.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Nonsense_Mutation	SNP	ENST00000396634.1	37	c.684G>A	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	38	7.009555	0.97998	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000536480;ENST00000376809;ENST00000376802	.	.	.	3.69	3.69	0.42338	.	0.196933	0.23847	U	0.043992	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.1517	0.48462	0.0:0.0:1.0:0.0	.	.	.	.	X	228;228;16;228;228	.	ENSP00000365998:W228X	W	+	3	0	HLA-A	30019942	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	0.498000	0.22530	2.070000	0.61991	0.485000	0.47835	TGG		PASS	0.617	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		8	216	8	216	---	---	---	---
SLC26A8	116369	broad.mit.edu	37	6	35949981	35949981	+	Splice_Site	SNP	C	C	G			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr6:35949981C>G	ENST00000490799.1	-	8	1296		c.e8-1		SLC26A8_ENST00000355574.2_Splice_Site|SLC26A8_ENST00000394602.2_Splice_Site	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8									p.?(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						AGCCAATAATCTGTAGGGGGT	0.433																																						uc003olm.2																			1	Unknown(1)		lung(1)	ovary(2)	2						c.e8-1		solute carrier family 26, member 8 isoform a							83.0	81.0	82.0					6																	35949981		2203	4300	6503	SO:0001630	splice_region_variant	116369				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	g.chr6:35949981C>G	AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"""Solute carriers"""	14468	protein-coding gene	gene with protein product		608480	"""solute carrier family 26, member 8"""			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.943-1G>C	6.37:g.35949981C>G						SLC26A8_uc003oln.2_Splice_Site_p.I315_splice|SLC26A8_uc003oll.2_Splice_Site_p.I210_splice	p.I315_splice	NM_052961	NP_443193	Q96RN1	S26A8_HUMAN			8	1054	-									Splice_Site	SNP	ENST00000490799.1	37	c.943_splice	CCDS4813.1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.585441	0.28268	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.644	0.77033	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC26A8	36057959	1.000000	0.71417	1.000000	0.80357	0.075000	0.17131	3.936000	0.56568	2.768000	0.95171	0.650000	0.86243	.		PASS	0.433	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2		Intron	52	58	52	58	---	---	---	---
ABCC10	89845	broad.mit.edu	37	6	43410821	43410821	+	Silent	SNP	C	C	G			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr6:43410821C>G	ENST00000372530.4	+	10	2555	c.2340C>G	c.(2338-2340)ctC>ctG	p.L780L	ABCC10_ENST00000244533.3_Silent_p.L752L	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	780	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.L752L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	CACGGCTGCTCTGCACCCACC	0.652																																						uc003ouy.1																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|central_nervous_system(1)	7						c.(2338-2340)CTC>CTG		ATP-binding cassette, sub-family C, member 10							60.0	51.0	54.0					6																	43410821		2203	4300	6503	SO:0001819	synonymous_variant	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43410821C>G	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.2340C>G	6.37:g.43410821C>G						ABCC10_uc003ouz.1_Silent_p.L752L|ABCC10_uc010jyo.1_5'UTR	p.L780L	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		10	2555	+	all_lung(25;0.00536)		780			ABC transporter 1.		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Silent	SNP	ENST00000372530.4	37	c.2340C>G	CCDS56430.1																																																																																				PASS	0.652	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		8	59	8	59	---	---	---	---
GCM1	8521	broad.mit.edu	37	6	52993048	52993048	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr6:52993048G>T	ENST00000259803.7	-	6	1478	c.1267C>A	c.(1267-1269)Cac>Aac	p.H423N	RP11-506E9.3_ENST00000566420.1_RNA	NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	423					anatomical structure morphogenesis (GO:0009653)|astrocyte fate commitment (GO:0060018)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell differentiation involved in embryonic placenta development (GO:0060706)|positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.H423N(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					TTGTTGCAGTGATCCAAACCC	0.458																																						uc003pbp.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1267-1269)CAC>AAC		glial cells missing homolog a							221.0	222.0	222.0					6																	52993048		2203	4300	6503	SO:0001583	missense	8521					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:52993048G>T	D88613	CCDS4950.1	6p21-p12	2008-08-29	2001-11-28	2002-09-27	ENSG00000137270	ENSG00000137270			4197	protein-coding gene	gene with protein product		603715	"""glial cells missing (Drosophila) homolog a"""	GCMA		8962155	Standard	NM_003643		Approved	hGCMa	uc003pbp.3	Q9NP62	OTTHUMG00000014871	ENST00000259803.7:c.1267C>A	6.37:g.52993048G>T	ENSP00000259803:p.His423Asn						p.H423N	NM_003643	NP_003634	Q9NP62	GCM1_HUMAN			6	1476	-	Lung NSC(77;0.0755)		423					Q4VAQ7|Q5T0X0|Q99468|Q9P1X3	Missense_Mutation	SNP	ENST00000259803.7	37	c.1267C>A	CCDS4950.1	.	.	.	.	.	.	.	.	.	.	G	7.861	0.726017	0.15439	.	.	ENSG00000137270	ENST00000259803	T	0.74106	-0.81	5.82	4.02	0.46733	.	0.172920	0.41294	D	0.000918	T	0.40570	0.1122	L	0.34521	1.04	0.25402	N	0.988434	P	0.38335	0.627	B	0.34722	0.188	T	0.33214	-0.9877	10	0.66056	D	0.02	-15.3325	5.1125	0.14817	0.2075:0.1687:0.6239:0.0	.	423	Q9NP62	GCM1_HUMAN	N	423	ENSP00000259803:H423N	ENSP00000259803:H423N	H	-	1	0	GCM1	53101007	1.000000	0.71417	0.993000	0.49108	0.055000	0.15305	2.269000	0.43346	0.795000	0.33922	-0.136000	0.14681	CAC		PASS	0.458	GCM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040953.1			121	672	121	672	---	---	---	---
GCM1	8521	broad.mit.edu	37	6	52993120	52993120	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr6:52993120G>A	ENST00000259803.7	-	6	1406	c.1195C>T	c.(1195-1197)Cag>Tag	p.Q399*	RP11-506E9.3_ENST00000566420.1_RNA	NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	399					anatomical structure morphogenesis (GO:0009653)|astrocyte fate commitment (GO:0060018)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell differentiation involved in embryonic placenta development (GO:0060706)|positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.Q399*(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					GAATATTGCTGATGAGGATGA	0.438																																						uc003pbp.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(1195-1197)CAG>TAG		glial cells missing homolog a							295.0	295.0	295.0					6																	52993120		2203	4300	6503	SO:0001587	stop_gained	8521					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:52993120G>A	D88613	CCDS4950.1	6p21-p12	2008-08-29	2001-11-28	2002-09-27	ENSG00000137270	ENSG00000137270			4197	protein-coding gene	gene with protein product		603715	"""glial cells missing (Drosophila) homolog a"""	GCMA		8962155	Standard	NM_003643		Approved	hGCMa	uc003pbp.3	Q9NP62	OTTHUMG00000014871	ENST00000259803.7:c.1195C>T	6.37:g.52993120G>A	ENSP00000259803:p.Gln399*						p.Q399*	NM_003643	NP_003634	Q9NP62	GCM1_HUMAN			6	1404	-	Lung NSC(77;0.0755)		399					Q4VAQ7|Q5T0X0|Q99468|Q9P1X3	Nonsense_Mutation	SNP	ENST00000259803.7	37	c.1195C>T	CCDS4950.1	.	.	.	.	.	.	.	.	.	.	G	34	5.336210	0.95758	.	.	ENSG00000137270	ENST00000259803	.	.	.	5.82	5.82	0.92795	.	0.234561	0.36854	N	0.002368	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-4.301	9.7742	0.40609	0.0744:0.1414:0.7842:0.0	.	.	.	.	X	399	.	ENSP00000259803:Q399X	Q	-	1	0	GCM1	53101079	0.997000	0.39634	0.972000	0.41901	0.500000	0.33767	3.892000	0.56235	2.767000	0.95098	0.655000	0.94253	CAG		PASS	0.438	GCM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040953.1			103	723	103	723	---	---	---	---
GCM1	8521	broad.mit.edu	37	6	52993134	52993134	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr6:52993134G>T	ENST00000259803.7	-	6	1392	c.1181C>A	c.(1180-1182)gCc>gAc	p.A394D	RP11-506E9.3_ENST00000566420.1_RNA	NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	394					anatomical structure morphogenesis (GO:0009653)|astrocyte fate commitment (GO:0060018)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell differentiation involved in embryonic placenta development (GO:0060706)|positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.A394D(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					AGGATGAGAGGCGTAGGTGAA	0.428																																						uc003pbp.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1180-1182)GCC>GAC		glial cells missing homolog a							284.0	283.0	283.0					6																	52993134		2203	4300	6503	SO:0001583	missense	8521					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:52993134G>T	D88613	CCDS4950.1	6p21-p12	2008-08-29	2001-11-28	2002-09-27	ENSG00000137270	ENSG00000137270			4197	protein-coding gene	gene with protein product		603715	"""glial cells missing (Drosophila) homolog a"""	GCMA		8962155	Standard	NM_003643		Approved	hGCMa	uc003pbp.3	Q9NP62	OTTHUMG00000014871	ENST00000259803.7:c.1181C>A	6.37:g.52993134G>T	ENSP00000259803:p.Ala394Asp						p.A394D	NM_003643	NP_003634	Q9NP62	GCM1_HUMAN			6	1390	-	Lung NSC(77;0.0755)		394					Q4VAQ7|Q5T0X0|Q99468|Q9P1X3	Missense_Mutation	SNP	ENST00000259803.7	37	c.1181C>A	CCDS4950.1	.	.	.	.	.	.	.	.	.	.	G	6.187	0.402760	0.11696	.	.	ENSG00000137270	ENST00000259803	T	0.74209	-0.82	5.82	2.86	0.33363	.	0.644761	0.15322	N	0.268477	T	0.30916	0.0780	N	0.08118	0	0.09310	N	1	B	0.19935	0.04	B	0.14578	0.011	T	0.21586	-1.0241	10	0.25751	T	0.34	-17.4595	10.8008	0.46487	0.0:0.3396:0.5301:0.1303	.	394	Q9NP62	GCM1_HUMAN	D	394	ENSP00000259803:A394D	ENSP00000259803:A394D	A	-	2	0	GCM1	53101093	0.001000	0.12720	0.000000	0.03702	0.010000	0.07245	1.074000	0.30703	0.254000	0.21573	-0.165000	0.13383	GCC		PASS	0.428	GCM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040953.1			100	701	100	701	---	---	---	---
GCM1	8521	broad.mit.edu	37	6	52993228	52993228	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr6:52993228G>C	ENST00000259803.7	-	6	1298	c.1087C>G	c.(1087-1089)Ctt>Gtt	p.L363V	RP11-506E9.3_ENST00000566420.1_RNA	NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	363					anatomical structure morphogenesis (GO:0009653)|astrocyte fate commitment (GO:0060018)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell differentiation involved in embryonic placenta development (GO:0060706)|positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.L363V(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					TCTTCATAAAGATTACCCGCT	0.478																																						uc003pbp.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1087-1089)CTT>GTT		glial cells missing homolog a							113.0	117.0	116.0					6																	52993228		2203	4300	6503	SO:0001583	missense	8521					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:52993228G>C	D88613	CCDS4950.1	6p21-p12	2008-08-29	2001-11-28	2002-09-27	ENSG00000137270	ENSG00000137270			4197	protein-coding gene	gene with protein product		603715	"""glial cells missing (Drosophila) homolog a"""	GCMA		8962155	Standard	NM_003643		Approved	hGCMa	uc003pbp.3	Q9NP62	OTTHUMG00000014871	ENST00000259803.7:c.1087C>G	6.37:g.52993228G>C	ENSP00000259803:p.Leu363Val						p.L363V	NM_003643	NP_003634	Q9NP62	GCM1_HUMAN			6	1296	-	Lung NSC(77;0.0755)		363					Q4VAQ7|Q5T0X0|Q99468|Q9P1X3	Missense_Mutation	SNP	ENST00000259803.7	37	c.1087C>G	CCDS4950.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.041594	0.00402	.	.	ENSG00000137270	ENST00000259803	T	0.74947	-0.89	5.73	1.86	0.25419	.	1.232980	0.05461	N	0.551121	T	0.36166	0.0957	L	0.29908	0.895	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.13335	-1.0513	10	0.14252	T	0.57	-7.3298	6.0309	0.19679	0.2304:0.3936:0.376:0.0	.	363	Q9NP62	GCM1_HUMAN	V	363	ENSP00000259803:L363V	ENSP00000259803:L363V	L	-	1	0	GCM1	53101187	0.001000	0.12720	0.048000	0.18961	0.518000	0.34316	-0.089000	0.11180	0.058000	0.16222	-0.218000	0.12543	CTT		PASS	0.478	GCM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040953.1			46	264	46	264	---	---	---	---
GCM1	8521	broad.mit.edu	37	6	52993240	52993240	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr6:52993240G>A	ENST00000259803.7	-	6	1286	c.1075C>T	c.(1075-1077)Cca>Tca	p.P359S	RP11-506E9.3_ENST00000566420.1_RNA	NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	359					anatomical structure morphogenesis (GO:0009653)|astrocyte fate commitment (GO:0060018)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell differentiation involved in embryonic placenta development (GO:0060706)|positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.P359S(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					TTACCCGCTGGATTTGGCCAT	0.478																																						uc003pbp.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1075-1077)CCA>TCA		glial cells missing homolog a							94.0	100.0	98.0					6																	52993240		2203	4300	6503	SO:0001583	missense	8521					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:52993240G>A	D88613	CCDS4950.1	6p21-p12	2008-08-29	2001-11-28	2002-09-27	ENSG00000137270	ENSG00000137270			4197	protein-coding gene	gene with protein product		603715	"""glial cells missing (Drosophila) homolog a"""	GCMA		8962155	Standard	NM_003643		Approved	hGCMa	uc003pbp.3	Q9NP62	OTTHUMG00000014871	ENST00000259803.7:c.1075C>T	6.37:g.52993240G>A	ENSP00000259803:p.Pro359Ser						p.P359S	NM_003643	NP_003634	Q9NP62	GCM1_HUMAN			6	1284	-	Lung NSC(77;0.0755)		359					Q4VAQ7|Q5T0X0|Q99468|Q9P1X3	Missense_Mutation	SNP	ENST00000259803.7	37	c.1075C>T	CCDS4950.1	.	.	.	.	.	.	.	.	.	.	G	11.37	1.617923	0.28801	.	.	ENSG00000137270	ENST00000259803	T	0.73258	-0.73	5.73	2.91	0.33838	.	0.289314	0.30383	N	0.009747	T	0.33059	0.0850	L	0.32530	0.975	0.09310	N	1	B	0.17038	0.02	B	0.12837	0.008	T	0.17258	-1.0375	10	0.25751	T	0.34	-6.581	6.4956	0.22140	0.1657:0.1478:0.6865:0.0	.	359	Q9NP62	GCM1_HUMAN	S	359	ENSP00000259803:P359S	ENSP00000259803:P359S	P	-	1	0	GCM1	53101199	0.000000	0.05858	0.659000	0.29680	0.803000	0.45373	-0.024000	0.12435	0.751000	0.32900	0.591000	0.81541	CCA		PASS	0.478	GCM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040953.1			40	238	40	238	---	---	---	---
COL9A1	1297	broad.mit.edu	37	6	70993461	70993461	+	Silent	SNP	A	A	G			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr6:70993461A>G	ENST00000357250.6	-	6	917	c.759T>C	c.(757-759)caT>caC	p.H253H	COL9A1_ENST00000370499.4_5'Flank|COL9A1_ENST00000320755.7_5'Flank|COL9A1_ENST00000370496.3_Silent_p.H253H	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	253	Nonhelical region (NC4).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)	p.H253H(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CTGGCAGCTCATGGCAAGTTT	0.522																																						uc003pfg.3																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(757-759)CAT>CAC		alpha 1 type IX collagen isoform 1 precursor							124.0	99.0	107.0					6																	70993461		2203	4300	6503	SO:0001819	synonymous_variant	1297				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	g.chr6:70993461A>G		CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.759T>C	6.37:g.70993461A>G						COL9A1_uc003pff.3_5'Flank	p.H253H	NM_001851	NP_001842	P20849	CO9A1_HUMAN			6	918	-			253			Nonhelical region (NC4).	Zinc.	Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Silent	SNP	ENST00000357250.6	37	c.759T>C	CCDS4971.1																																																																																				PASS	0.522	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			12	26	12	26	---	---	---	---
MYO6	4646	broad.mit.edu	37	6	76582983	76582983	+	Silent	SNP	A	A	G			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr6:76582983A>G	ENST00000369977.3	+	20	2182	c.2043A>G	c.(2041-2043)gaA>gaG	p.E681E	MYO6_ENST00000369985.4_Silent_p.E681E|MYO6_ENST00000369981.3_Silent_p.E681E|MYO6_ENST00000462633.1_3'UTR|MYO6_ENST00000369975.1_Silent_p.E681E	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	681	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)	p.E681E(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		ACCACTTTGAAGGTGCTCAAA	0.358																																						uc003pih.1																			1	Substitution - coding silent(1)		lung(1)	kidney(1)|pancreas(1)	2						c.(2041-2043)GAA>GAG		myosin VI							160.0	136.0	144.0					6																	76582983		2203	4300	6503	SO:0001819	synonymous_variant	4646				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	g.chr6:76582983A>G	U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.2043A>G	6.37:g.76582983A>G						MYO6_uc003pig.1_Silent_p.E681E|MYO6_uc003pii.1_Silent_p.E681E	p.E681E	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.223)	20	2322	+		all_hematologic(105;0.189)	681			Myosin head-like.		A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Silent	SNP	ENST00000369977.3	37	c.2043A>G	CCDS34487.1																																																																																				PASS	0.358	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999		8	131	8	131	---	---	---	---
CLVS2	134829	broad.mit.edu	37	6	123377156	123377156	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr6:123377156C>G	ENST00000275162.5	+	5	2216	c.881C>G	c.(880-882)cCa>cGa	p.P294R	CLVS2_ENST00000368438.1_Missense_Mutation_p.P148R	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	294					lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)	p.P294R(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						GAACTCTCCCCAAAGTCCATG	0.507																																						uc003pzi.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(880-882)CCA>CGA		retinaldehyde binding protein 1-like 2							66.0	55.0	59.0					6																	123377156		2203	4300	6503	SO:0001583	missense	134829				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr6:123377156C>G	AK095527	CCDS34525.1	6q22.31	2009-10-14	2009-10-14	2009-10-14	ENSG00000146352	ENSG00000146352			23046	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 212"", ""chromosome 6 open reading frame 213"", ""retinaldehyde binding protein 1-like 2"""	C6orf212, C6orf213, RLBP1L2		19651769	Standard	NM_001010852		Approved	bA160A10.4	uc003pzi.1	Q5SYC1	OTTHUMG00000015495	ENST00000275162.5:c.881C>G	6.37:g.123377156C>G	ENSP00000275162:p.Pro294Arg						p.P294R	NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN			5	1750	+			294					B3KTG5|B4DHL0|C8UZT4|Q5SYC0	Missense_Mutation	SNP	ENST00000275162.5	37	c.881C>G	CCDS34525.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.544748	0.65198	.	.	ENSG00000146352	ENST00000275162;ENST00000368438	T;T	0.79454	-1.27;-0.59	6.06	6.06	0.98353	.	0.220091	0.47093	D	0.000254	T	0.60945	0.2308	N	0.24115	0.695	0.80722	D	1	P	0.35077	0.483	B	0.33392	0.163	T	0.67114	-0.5752	10	0.72032	D	0.01	-16.3148	20.6208	0.99490	0.0:1.0:0.0:0.0	.	294	Q5SYC1	CLVS2_HUMAN	R	294;148	ENSP00000275162:P294R;ENSP00000357423:P148R	ENSP00000275162:P294R	P	+	2	0	CLVS2	123418855	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.336000	0.79245	2.882000	0.98803	0.655000	0.94253	CCA		PASS	0.507	CLVS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042042.2	NM_001010852		23	36	23	36	---	---	---	---
LTV1	84946	broad.mit.edu	37	6	144165676	144165676	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr6:144165676C>G	ENST00000367576.5	+	2	191	c.57C>G	c.(55-57)caC>caG	p.H19Q	RP3-468K18.5_ENST00000545614.1_3'UTR	NM_032860.3	NP_116249.2	Q96GA3	LTV1_HUMAN	LTV1 ribosome biogenesis factor	19						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.H19Q(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)		TGTCTTTTCACTTGGTCCACC	0.428																																						uc003qjs.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(55-57)CAC>CAG		LTV1 homolog							109.0	111.0	110.0					6																	144165676		2203	4300	6503	SO:0001583	missense	84946							g.chr6:144165676C>G	BC009855	CCDS5201.1	6q24.2	2014-02-03	2014-02-03	2006-02-06	ENSG00000135521	ENSG00000135521			21173	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 93"", ""LTV1 homolog (S. cerevisiae)"""	C6orf93			Standard	NM_032860		Approved	FLJ14909, dJ468K18.4	uc003qjs.3	Q96GA3	OTTHUMG00000015733	ENST00000367576.5:c.57C>G	6.37:g.144165676C>G	ENSP00000356548:p.His19Gln						p.H19Q	NM_032860	NP_116249	Q96GA3	LTV1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)	2	164	+			19					Q96JX8	Missense_Mutation	SNP	ENST00000367576.5	37	c.57C>G	CCDS5201.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.486207	0.63962	.	.	ENSG00000135521	ENST00000367576	.	.	.	5.34	2.64	0.31445	.	0.000000	0.85682	D	0.000000	T	0.31979	0.0814	L	0.38175	1.15	0.58432	D	0.999998	P	0.51057	0.941	P	0.55577	0.779	T	0.19031	-1.0318	9	0.09338	T	0.73	.	8.4626	0.32936	0.0:0.6375:0.0:0.3625	.	19	Q96GA3	LTV1_HUMAN	Q	19	.	ENSP00000356548:H19Q	H	+	3	2	LTV1	144207369	0.981000	0.34729	0.998000	0.56505	0.999000	0.98932	0.487000	0.22356	0.400000	0.25396	0.655000	0.94253	CAC		PASS	0.428	LTV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042532.1	NM_032860		25	277	25	277	---	---	---	---
SHPRH	257218	broad.mit.edu	37	6	146216035	146216035	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr6:146216035G>C	ENST00000367505.2	-	26	4858	c.4594C>G	c.(4594-4596)Ctc>Gtc	p.L1532V	SHPRH_ENST00000367503.3_Missense_Mutation_p.L1536V|SHPRH_ENST00000275233.7_Missense_Mutation_p.L1532V|SHPRH_ENST00000438092.2_Missense_Mutation_p.L1536V			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1532	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L1536V(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		GAGAAAACGAGTGCTTTGGCC	0.383																																						uc003qlf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(4594-4596)CTC>GTC		SNF2 histone linker PHD RING helicase isoform a							219.0	202.0	207.0					6																	146216035		1847	4095	5942	SO:0001583	missense	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146216035G>C	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.4594C>G	6.37:g.146216035G>C	ENSP00000356475:p.Leu1532Val					SHPRH_uc003qld.2_Missense_Mutation_p.L1536V|SHPRH_uc003qle.2_Missense_Mutation_p.L1536V	p.L1532V	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	26	4993	-		Ovarian(120;0.0365)	1532			Helicase C-terminal.		Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	c.4594C>G	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	G	19.80	3.894535	0.72639	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233	T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41	5.92	5.92	0.95590	Helicase, C-terminal (1);	0.089299	0.44097	N	0.000488	T	0.79246	0.4413	L	0.38175	1.15	0.58432	D	0.999999	D;D	0.76494	0.998;0.999	D;D	0.87578	0.994;0.998	T	0.78234	-0.2283	10	0.34782	T	0.22	-16.2626	10.3402	0.43873	0.1494:0.0:0.8506:0.0	.	1532;1536	Q149N8;Q149N8-4	SHPRH_HUMAN;.	V	1532;1536;1536;1532	ENSP00000356475:L1532V;ENSP00000356473:L1536V;ENSP00000412797:L1536V;ENSP00000275233:L1532V	ENSP00000275233:L1532V	L	-	1	0	SHPRH	146257728	1.000000	0.71417	0.383000	0.26132	0.969000	0.65631	4.407000	0.59754	2.794000	0.96219	0.650000	0.86243	CTC		PASS	0.383	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		39	472	39	472	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152576119	152576120	+	Missense_Mutation	DNP	CT	CT	AA	rs376421422		TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr6:152576119_152576120CT>AA	ENST00000367255.5	-	104	19966_19967	c.19365_19366AG>TT	c.(19363-19368)gaAGat>gaTTat	p.6455_6456ED>DY	SYNE1_ENST00000448038.1_Missense_Mutation_p.6384_6385ED>DY|SYNE1_ENST00000341594.5_Missense_Mutation_p.6067_6068ED>DY|SYNE1_ENST00000356820.4_Missense_Mutation_p.979_980ED>DY|SYNE1_ENST00000265368.4_Missense_Mutation_p.6455_6456ED>DY|SYNE1_ENST00000423061.1_Missense_Mutation_p.6384_6385ED>DY	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6455					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.E6455D(2)|p.E6455_D6456>DY(2)|p.D6456Y(2)|p.E6384_D6385>DY(1)|p.E6384D(1)|p.D6385Y(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCCAAAGTATCTTCAATAACAT	0.356										HNSCC(10;0.0054)																												uc010kiw.2																			9	Substitution - Missense(6)|Complex - compound substitution(3)		lung(9)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(19366-19368)GAT>TAT|c.(19363-19365)GAA>GAT		spectrin repeat containing, nuclear envelope 1																																				SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152576119C>A|g.chr6:152576120T>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.19365_19366delinsAA	6.37:g.152576119_152576120delinsAA	ENSP00000356224:p.E6455_D6456delinsDY	HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Missense_Mutation_p.D980Y|SYNE1_uc003qos.3_Missense_Mutation_p.D980Y|SYNE1_uc003qot.3_Missense_Mutation_p.D6385Y|SYNE1_uc003qou.3_Missense_Mutation_p.D6456Y|SYNE1_uc010kiv.2_Missense_Mutation_p.E979D|SYNE1_uc003qos.3_Missense_Mutation_p.E979D|SYNE1_uc003qot.3_Missense_Mutation_p.E6384D|SYNE1_uc003qou.3_Missense_Mutation_p.E6455D	p.D6456Y|p.E6455D	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	104	19968|19967	-		Ovarian(120;0.0955)	6456|6455			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.19366G>T|c.19365A>T	CCDS5236.2																																																																																				PASS	0.356	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		49|47	67|68	47	67	---	---	---	---
DGKB	1607	broad.mit.edu	37	7	14378241	14378241	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr7:14378241C>A	ENST00000403951.2	-	23	2443	c.2024G>T	c.(2023-2025)gGa>gTa	p.G675V	DGKB_ENST00000407950.1_Missense_Mutation_p.G667V|DGKB_ENST00000444700.2_Missense_Mutation_p.G656V|DGKB_ENST00000406247.3_Missense_Mutation_p.G675V|DGKB_ENST00000402815.1_Missense_Mutation_p.G674V|DGKB_ENST00000258767.5_Missense_Mutation_p.G675V|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Missense_Mutation_p.G675V			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	675					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.G675V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						CTTAGACTCTCCCCAAAGATT	0.408																																						uc003ssz.2																			1	Substitution - Missense(1)		lung(1)	lung(5)|ovary(4)|breast(2)|skin(1)	12						c.(2023-2025)GGA>GTA		diacylglycerol kinase, beta isoform 1	Phosphatidylserine(DB00144)						150.0	136.0	140.0					7																	14378241		1847	4098	5945	SO:0001583	missense	1607				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	g.chr7:14378241C>A	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.2024G>T	7.37:g.14378241C>A	ENSP00000385780:p.Gly675Val					DGKB_uc011jxt.1_Missense_Mutation_p.G656V|DGKB_uc003sta.2_Missense_Mutation_p.G675V|DGKB_uc011jxu.1_Missense_Mutation_p.G674V	p.G675V	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN			22	2211	-			675					A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	ENST00000403951.2	37	c.2024G>T	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.824188	0.90955	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86	5.5	5.5	0.81552	Diacylglycerol kinase, accessory domain (2);	0.000000	0.85682	D	0.000000	T	0.79557	0.4466	H	0.95574	3.69	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	0.85706	0.1316	10	0.87932	D	0	.	19.3986	0.94619	0.0:1.0:0.0:0.0	.	674;656;675;675	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	V	675;675;675;674;667;656;675	ENSP00000385780:G675V;ENSP00000382260:G675V;ENSP00000258767:G675V;ENSP00000384909:G674V;ENSP00000385031:G667V;ENSP00000388451:G656V;ENSP00000386066:G675V	ENSP00000258767:G675V	G	-	2	0	DGKB	14344766	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.570000	0.86706	0.650000	0.86243	GGA		PASS	0.408	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		59	146	59	146	---	---	---	---
TNS3	64759	broad.mit.edu	37	7	47409020	47409020	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr7:47409020C>A	ENST00000398879.1	-	17	1589	c.1223G>T	c.(1222-1224)cGc>cTc	p.R408L	TNS3_ENST00000311160.9_Missense_Mutation_p.R408L|TNS3_ENST00000355730.3_Intron			Q68CZ2	TENS3_HUMAN	tensin 3	408					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)		p.R408L(1)		NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						TGGGGCCAGGCGCTCTTCCGT	0.627																																						uc003tnv.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(1222-1224)CGC>CTC		tensin 3							52.0	58.0	56.0					7																	47409020		2129	4249	6378	SO:0001583	missense	64759					focal adhesion	protein binding	g.chr7:47409020C>A	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.1223G>T	7.37:g.47409020C>A	ENSP00000381854:p.Arg408Leu					TNS3_uc003tnw.2_Missense_Mutation_p.R408L	p.R408L	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN			17	1590	-			408					B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	c.1223G>T	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	C	7.513	0.655009	0.14580	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000457718;ENST00000450444	T;T;T;T	0.19250	2.16;2.16;2.16;2.16	4.91	1.99	0.26369	.	0.387093	0.26646	N	0.023228	T	0.14313	0.0346	L	0.41236	1.265	0.19300	N	0.999975	B	0.25007	0.116	B	0.26517	0.07	T	0.22243	-1.0222	10	0.30078	T	0.28	-13.4164	4.9258	0.13892	0.0:0.5972:0.1572:0.2456	.	408	Q68CZ2	TENS3_HUMAN	L	408;518;408;511;497	ENSP00000312143:R408L;ENSP00000381854:R408L;ENSP00000414358:R511L;ENSP00000396914:R497L	ENSP00000312143:R408L	R	-	2	0	TNS3	47375545	0.001000	0.12720	0.021000	0.16686	0.607000	0.37147	-0.282000	0.08445	0.086000	0.17137	0.462000	0.41574	CGC		PASS	0.627	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		33	71	33	71	---	---	---	---
CCDC132	55610	broad.mit.edu	37	7	92985380	92985380	+	Silent	SNP	C	C	T			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr7:92985380C>T	ENST00000305866.5	+	27	2891	c.2763C>T	c.(2761-2763)atC>atT	p.I921I	CCDC132_ENST00000535481.1_Silent_p.I641I|CCDC132_ENST00000544910.1_Silent_p.I891I|CCDC132_ENST00000474412.1_3'UTR|CCDC132_ENST00000541136.1_3'UTR	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	921						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.I921I(1)		endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			AACGGTGGATCAAAGAGCACA	0.318																																						uc003umo.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(2761-2763)ATC>ATT		coiled-coil domain containing 132 isoform a							44.0	43.0	43.0					7																	92985380		1843	4075	5918	SO:0001819	synonymous_variant	55610							g.chr7:92985380C>T	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.2763C>T	7.37:g.92985380C>T						CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Silent_p.I891I|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Silent_p.I641I	p.I921I	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		27	2891	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		921					B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Silent	SNP	ENST00000305866.5	37	c.2763C>T	CCDS43617.1	.	.	.	.	.	.	.	.	.	.	C	8.817	0.936626	0.18206	.	.	ENSG00000004766	ENST00000443443	.	.	.	5.62	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.1952	9.8988	0.41335	0.1437:0.7792:0.0:0.0771	.	.	.	.	X	146	.	.	Q	+	1	0	CCDC132	92823316	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.951000	0.56684	1.461000	0.47929	0.650000	0.86243	CAA		PASS	0.318	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		19	65	19	65	---	---	---	---
PPP1R3A	5506	broad.mit.edu	37	7	113518175	113518175	+	Missense_Mutation	SNP	C	C	T	rs374950521		TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr7:113518175C>T	ENST00000284601.3	-	4	3040	c.2972G>A	c.(2971-2973)aGa>aAa	p.R991K		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	991					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.R991K(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GCCTATGCATCTTTCTTTTCT	0.388																																						uc010ljy.1																			1	Substitution - Missense(1)		lung(1)	lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						c.(2971-2973)AGA>AAA		protein phosphatase 1, regulatory (inhibitor)		C	LYS/ARG	0,4406		0,0,2203	105.0	103.0	104.0		2972	0.3	0.0	7		104	3,8593	3.0+/-9.4	0,3,4295	no	missense	PPP1R3A	NM_002711.3	26	0,3,6498	TT,TC,CC		0.0349,0.0,0.0231	benign	991/1123	113518175	3,12999	2203	4298	6501	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113518175C>T	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.2972G>A	7.37:g.113518175C>T	ENSP00000284601:p.Arg991Lys						p.R991K	NM_002711	NP_002702	Q16821	PPR3A_HUMAN			4	3003	-			991					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.2972G>A	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	C	0.986	-0.695551	0.03279	0.0	3.49E-4	ENSG00000154415	ENST00000284601	T	0.17213	2.29	5.48	0.344	0.16006	.	0.488601	0.21175	N	0.078906	T	0.08537	0.0212	N	0.21583	0.68	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.23368	-1.0190	10	0.39692	T	0.17	-0.1611	2.43	0.04469	0.12:0.4504:0.233:0.1967	.	991	Q16821	PPR3A_HUMAN	K	991	ENSP00000284601:R991K	ENSP00000284601:R991K	R	-	2	0	PPP1R3A	113305411	0.021000	0.18746	0.003000	0.11579	0.051000	0.14879	0.123000	0.15708	-0.239000	0.09710	-0.143000	0.13931	AGA		PASS	0.388	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		74	179	74	179	---	---	---	---
CADPS2	93664	broad.mit.edu	37	7	122261657	122261657	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr7:122261657C>A	ENST00000449022.2	-	5	1001	c.982G>T	c.(982-984)Ggt>Tgt	p.G328C	CADPS2_ENST00000412584.2_Missense_Mutation_p.G328C|CADPS2_ENST00000313070.7_Missense_Mutation_p.G328C|CADPS2_ENST00000334010.7_Missense_Mutation_p.G328C	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	328					cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)	p.G328C(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TCCGGACCACCTTTCGAAACT	0.363																																						uc010lkp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(982-984)GGT>TGT		Ca2+-dependent activator protein for secretion 2							92.0	90.0	90.0					7																	122261657		1807	4072	5879	SO:0001583	missense	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:122261657C>A		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.982G>T	7.37:g.122261657C>A	ENSP00000398481:p.Gly328Cys					CADPS2_uc003vkg.3_Missense_Mutation_p.G28C|CADPS2_uc010lkq.2_Missense_Mutation_p.G328C	p.G328C	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN			5	1145	-			328					A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	ENST00000449022.2	37	c.982G>T	CCDS55158.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.412190	0.83340	.	.	ENSG00000081803	ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.6	5.6	0.85130	.	0.050048	0.85682	D	0.000000	T	0.70971	0.3285	M	0.75264	2.295	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	T	0.73148	-0.4074	10	0.72032	D	0.01	-15.6942	19.6159	0.95633	0.0:1.0:0.0:0.0	.	328;328;328	Q86UW7-2;Q86UW7;Q86UW7-3	.;CAPS2_HUMAN;.	C	328;328;328;295;328;328	ENSP00000325581:G328C;ENSP00000333940:G328C;ENSP00000400401:G328C;ENSP00000398481:G328C	ENSP00000325581:G328C	G	-	1	0	CADPS2	122048893	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	7.362000	0.79507	2.644000	0.89710	0.467000	0.42956	GGT		PASS	0.363	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		25	174	25	174	---	---	---	---
TRPV5	56302	broad.mit.edu	37	7	142606734	142606734	+	Missense_Mutation	SNP	C	C	T	rs143560130		TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr7:142606734C>T	ENST00000265310.1	-	14	2165	c.1817G>A	c.(1816-1818)cGg>cAg	p.R606Q		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	606					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.R606Q(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					AGGCAGCTTCCGCTCCAGCAT	0.612																																						uc003wby.1																			2	Substitution - Missense(2)		lung(1)|skin(1)	ovary(3)|central_nervous_system(2)|skin(1)	6						c.(1816-1818)CGG>CAG		transient receptor potential cation channel,		C	GLN/ARG	0,4406		0,0,2203	64.0	56.0	59.0		1817	4.8	1.0	7	dbSNP_134	59	2,8598	2.2+/-6.3	0,2,4298	no	missense	TRPV5	NM_019841.4	43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	606/730	142606734	2,13004	2203	4300	6503	SO:0001583	missense	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142606734C>T	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.1817G>A	7.37:g.142606734C>T	ENSP00000265310:p.Arg606Gln						p.R606Q	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN			14	2081	-	Melanoma(164;0.059)		606			Cytoplasmic (Potential).		A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Missense_Mutation	SNP	ENST00000265310.1	37	c.1817G>A	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	C	31	5.060415	0.93846	0.0	2.33E-4	ENSG00000127412	ENST00000265310;ENST00000439304	D;D	0.82081	-1.56;-1.57	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	D	0.87172	0.6111	M	0.81942	2.565	0.80722	D	1	D	0.65815	0.995	P	0.53593	0.73	D	0.87527	0.2450	10	0.52906	T	0.07	-13.6603	10.9046	0.47073	0.0:0.9145:0.0:0.0855	.	606	Q9NQA5	TRPV5_HUMAN	Q	606;551	ENSP00000265310:R606Q;ENSP00000406361:R551Q	ENSP00000265310:R606Q	R	-	2	0	TRPV5	142316856	0.911000	0.30947	0.988000	0.46212	0.927000	0.56198	5.682000	0.68182	2.672000	0.90937	0.655000	0.94253	CGG		PASS	0.612	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		15	52	15	52	---	---	---	---
OR2A12	346525	broad.mit.edu	37	7	143792604	143792604	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr7:143792604T>A	ENST00000408949.2	+	1	464	c.404T>A	c.(403-405)aTg>aAg	p.M135K		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M135K(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					ACCCTCATTATGAACTGGAGA	0.438																																						uc011kty.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(403-405)ATG>AAG		olfactory receptor, family 2, subfamily A,							216.0	201.0	206.0					7																	143792604		2046	4213	6259	SO:0001583	missense	346525				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143792604T>A		CCDS43670.1	7q35	2013-09-20	2002-11-13	2002-11-13	ENSG00000221858	ENSG00000221858		"""GPCR / Class A : Olfactory receptors"""	15082	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 12 pseudogene"""	OR2A12P			Standard	NM_001004135		Approved		uc011kty.2	Q8NGT7	OTTHUMG00000157996	ENST00000408949.2:c.404T>A	7.37:g.143792604T>A	ENSP00000386174:p.Met135Lys						p.M135K	NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN			1	404	+	Melanoma(164;0.0783)		135			Cytoplasmic (Potential).		Q6IF43	Missense_Mutation	SNP	ENST00000408949.2	37	c.404T>A	CCDS43670.1	.	.	.	.	.	.	.	.	.	.	T	15.29	2.790027	0.50102	.	.	ENSG00000221858	ENST00000408949	T	0.00601	6.29	4.23	4.23	0.50019	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.04952	0.0133	H	0.99211	4.47	0.38450	D	0.946947	P	0.52061	0.95	P	0.58210	0.835	T	0.00477	-1.1716	9	0.87932	D	0	-21.6531	11.2945	0.49269	0.0:0.0:0.0:1.0	.	135	Q8NGT7	O2A12_HUMAN	K	135	ENSP00000386174:M135K	ENSP00000386174:M135K	M	+	2	0	OR2A12	143423537	1.000000	0.71417	1.000000	0.80357	0.032000	0.12392	4.851000	0.62896	1.770000	0.52166	0.413000	0.27773	ATG		PASS	0.438	OR2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349969.1			9	316	9	316	---	---	---	---
ZNF425	155054	broad.mit.edu	37	7	148801578	148801578	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr7:148801578C>A	ENST00000378061.2	-	4	1517	c.1385G>T	c.(1384-1386)cGc>cTc	p.R462L		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	462					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R462L(1)		breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GCTGTGCAGGCGCTGGTGGGC	0.672																																						uc003wfj.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)	3						c.(1384-1386)CGC>CTC		zinc finger protein 425							35.0	35.0	35.0					7																	148801578		2203	4300	6503	SO:0001583	missense	155054				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr7:148801578C>A	AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.1385G>T	7.37:g.148801578C>A	ENSP00000367300:p.Arg462Leu						p.R462L	NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		4	1458	-	Melanoma(164;0.15)		462			C2H2-type 9.		B3KPM1|Q08AG3	Missense_Mutation	SNP	ENST00000378061.2	37	c.1385G>T	CCDS34773.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.814428	0.50527	.	.	ENSG00000204947	ENST00000378061	T	0.25085	1.82	3.39	1.39	0.22231	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15739	0.0379	N	0.24115	0.695	0.25129	N	0.990587	B	0.30281	0.275	B	0.21151	0.033	T	0.14587	-1.0467	9	0.72032	D	0.01	.	9.4976	0.38997	0.3775:0.6225:0.0:0.0	.	462	Q6IV72	ZN425_HUMAN	L	462	ENSP00000367300:R462L	ENSP00000367300:R462L	R	-	2	0	ZNF425	148432511	0.000000	0.05858	0.196000	0.23383	0.736000	0.42039	-0.667000	0.05274	0.193000	0.20303	0.655000	0.94253	CGC		PASS	0.672	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	XM_088140		5	78	5	78	---	---	---	---
SLC4A2	6522	broad.mit.edu	37	7	150761614	150761614	+	Splice_Site	SNP	C	C	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr7:150761614C>A	ENST00000485713.1	+	4	1259	c.219C>A	c.(217-219)taC>taA	p.Y73*	SLC4A2_ENST00000461735.1_Splice_Site_p.Y59*|SLC4A2_ENST00000310317.5_Intron|SLC4A2_ENST00000392826.2_Splice_Site_p.Y64*|SLC4A2_ENST00000413384.2_Splice_Site_p.Y73*	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	73	Pro-rich.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)	p.Y73*(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCCTGCAGACCACCGCCAGT	0.682																																						uc003wit.3																			1	Substitution - Nonsense(1)		lung(1)		0						c.(217-219)TAC>TAA		solute carrier family 4, anion exchanger, member							68.0	77.0	74.0					7																	150761614		2201	4299	6500	SO:0001630	splice_region_variant	6522				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	g.chr7:150761614C>A		CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"""Solute carriers"""	11028	protein-coding gene	gene with protein product	"""anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2"""	109280	"""erythrocyte membrane protein band 3-like 1"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"""	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.218-1C>A	7.37:g.150761614C>A						SLC4A2_uc011kve.1_Nonsense_Mutation_p.Y64*|SLC4A2_uc003wiu.3_Nonsense_Mutation_p.Y59*	p.Y73*	NM_003040	NP_003031	P04920	B3A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	4	475	+			73			Cytoplasmic (Potential).|Pro-rich.		B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Nonsense_Mutation	SNP	ENST00000485713.1	37	c.219C>A	CCDS5917.1	.	.	.	.	.	.	.	.	.	.	C	45	11.340515	0.99549	.	.	ENSG00000164889	ENST00000483786;ENST00000485713;ENST00000413384;ENST00000490898;ENST00000482950;ENST00000463414;ENST00000392826;ENST00000461735	.	.	.	5.14	2.35	0.29111	.	0.145137	0.47852	D	0.000205	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.6478	0.22945	0.0:0.636:0.0:0.364	.	.	.	.	X	73;73;73;73;73;73;64;59	.	ENSP00000376571:Y64X	Y	+	3	2	SLC4A2	150392547	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	1.666000	0.37460	0.573000	0.29400	0.454000	0.30748	TAC		PASS	0.682	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040	Nonsense_Mutation	13	44	13	44	---	---	---	---
SLC18A1	6570	broad.mit.edu	37	8	20031880	20031880	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr8:20031880G>C	ENST00000276373.5	-	5	889	c.623C>G	c.(622-624)tCt>tGt	p.S208C	SLC18A1_ENST00000440926.1_Missense_Mutation_p.S208C|SLC18A1_ENST00000524272.1_5'UTR|SLC18A1_ENST00000265808.7_Missense_Mutation_p.S208C|SLC18A1_ENST00000381608.4_Missense_Mutation_p.S208C|SLC18A1_ENST00000519026.1_Missense_Mutation_p.S208C|SLC18A1_ENST00000437980.1_Missense_Mutation_p.S208C	NM_003053.3	NP_003044.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	208					monoamine transport (GO:0015844)|neurotransmitter transport (GO:0006836)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	drug transmembrane transporter activity (GO:0015238)|monoamine transmembrane transporter activity (GO:0008504)	p.S208C(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)	Ephedra(DB01363)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Reserpine(DB00206)	ACCTGCAACAGATGAAAATGA	0.438																																						uc011kyq.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(622-624)TCT>TGT		solute carrier family 18 (vesicular monoamine),							157.0	134.0	142.0					8																	20031880		2203	4300	6503	SO:0001583	missense	6570				neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity	g.chr8:20031880G>C		CCDS6013.1, CCDS47814.1, CCDS47815.1	8p21.3	2013-07-18	2013-07-18		ENSG00000036565	ENSG00000036565		"""Solute carriers"""	10934	protein-coding gene	gene with protein product		193002		VMAT1, VAT1			Standard	NM_003053		Approved	CGAT	uc003wzm.3	P54219	OTTHUMG00000097017	ENST00000276373.5:c.623C>G	8.37:g.20031880G>C	ENSP00000276373:p.Ser208Cys					SLC18A1_uc003wzl.2_5'Flank|SLC18A1_uc003wzm.2_Missense_Mutation_p.S208C|SLC18A1_uc011kyr.1_Missense_Mutation_p.S208C|SLC18A1_uc003wzn.2_Missense_Mutation_p.S208C|SLC18A1_uc010ltf.2_RNA|SLC18A1_uc003wzo.2_Missense_Mutation_p.S208C	p.S208C	NM_001135691	NP_001129163	P54219	VMAT1_HUMAN		Colorectal(74;0.0747)	6	1094	-			208			Helical; (Potential).		E9PDJ5|Q9BRE4	Missense_Mutation	SNP	ENST00000276373.5	37	c.623C>G	CCDS6013.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.710466	0.89018	.	.	ENSG00000036565	ENST00000265808;ENST00000276373;ENST00000440926;ENST00000437980;ENST00000519026;ENST00000381608	T;T;T;T;T;T	0.58506	0.33;0.33;0.33;0.33;0.33;0.33	5.67	5.67	0.87782	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.156108	0.64402	D	0.000013	T	0.78381	0.4274	M	0.82056	2.57	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.77557	0.989;0.99;0.99	T	0.79981	-0.1574	10	0.72032	D	0.01	-25.4913	18.6902	0.91580	0.0:0.0:1.0:0.0	.	208;208;208	E9PB33;E9PDJ5;P54219	.;.;VMAT1_HUMAN	C	208	ENSP00000265808:S208C;ENSP00000276373:S208C;ENSP00000387549:S208C;ENSP00000413361:S208C;ENSP00000429664:S208C;ENSP00000371021:S208C	ENSP00000265808:S208C	S	-	2	0	SLC18A1	20076160	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.560000	0.82277	2.828000	0.97474	0.655000	0.94253	TCT		PASS	0.438	SLC18A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214106.1			19	59	19	59	---	---	---	---
FAM160B2	64760	broad.mit.edu	37	8	21960417	21960417	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr8:21960417C>A	ENST00000289921.7	+	17	2253	c.2207C>A	c.(2206-2208)tCc>tAc	p.S736Y		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2	736								p.P461T(1)|p.S736Y(1)		endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						CAGAACGTCTCCCCAGCCCCG	0.657																																						uc011kyx.1																			2	Substitution - Missense(2)		lung(2)		0						c.(2206-2208)TCC>TAC		retinoic acid induced 16							71.0	77.0	75.0					8																	21960417		2085	4207	6292	SO:0001583	missense	64760							g.chr8:21960417C>A	AK025454	CCDS6021.2	8p21.3	2012-11-30	2008-06-05	2008-06-05	ENSG00000158863	ENSG00000158863			16492	protein-coding gene	gene with protein product			"""retinoic acid induced 16"""	RAI16		22971576, 15626329	Standard	XR_247128		Approved	FLJ21801	uc011kyx.2	Q86V87	OTTHUMG00000097088	ENST00000289921.7:c.2207C>A	8.37:g.21960417C>A	ENSP00000289921:p.Ser736Tyr					FAM160B2_uc011kyy.1_RNA	p.S736Y	NM_022749	NP_073586	Q86V87	F16B2_HUMAN			17	2258	+			736					B2RDQ5|B3KNX1|Q2M211|Q71JB5|Q7L3J6|Q969T0|Q9H6W4	Missense_Mutation	SNP	ENST00000289921.7	37	c.2207C>A	CCDS6021.2	.	.	.	.	.	.	.	.	.	.	C	12.30	1.896473	0.33442	.	.	ENSG00000158863	ENST00000289921;ENST00000356512	T	0.15718	2.4	5.76	5.76	0.90799	.	0.516357	0.17831	N	0.160528	T	0.16769	0.0403	N	0.22421	0.69	0.09310	N	1	P	0.49447	0.924	P	0.44732	0.459	T	0.09596	-1.0667	10	0.72032	D	0.01	-11.5293	15.4617	0.75363	0.0:1.0:0.0:0.0	.	736	Q86V87	F16B2_HUMAN	Y	736;154	ENSP00000289921:S736Y	ENSP00000289921:S736Y	S	+	2	0	FAM160B2	22016362	0.001000	0.12720	0.046000	0.18839	0.032000	0.12392	1.232000	0.32636	2.724000	0.93272	0.561000	0.74099	TCC		PASS	0.657	FAM160B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375334.2			13	31	13	31	---	---	---	---
ADAM32	203102	broad.mit.edu	37	8	39068795	39068795	+	Silent	SNP	C	C	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr8:39068795C>A	ENST00000379907.4	+	12	1312	c.1185C>A	c.(1183-1185)ggC>ggA	p.G395G	ADAM32_ENST00000519315.1_Intron|ADAM32_ENST00000437682.2_Intron	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	395	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.					integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G394G(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			CAGTCTGTGGCAATGGCAGAT	0.338																																						uc003xmt.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)|kidney(1)	3						c.(1183-1185)GGC>GGA		a disintegrin and metalloprotease domain 32							48.0	46.0	47.0					8																	39068795		1821	4086	5907	SO:0001819	synonymous_variant	203102				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:39068795C>A	BC026085	CCDS47846.1	8p11.22	2005-08-18	2005-08-18		ENSG00000197140	ENSG00000197140		"""ADAM metallopeptidase domain containing"""	15479	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 32"""			12568724	Standard	NM_145004		Approved		uc003xmt.4	Q8TC27	OTTHUMG00000164071	ENST00000379907.4:c.1185C>A	8.37:g.39068795C>A						ADAM32_uc011lch.1_Intron|ADAM32_uc003xmu.3_Intron	p.G395G	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)		12	1430	+		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	395			Disintegrin.|Extracellular (Potential).		Q8TC42	Silent	SNP	ENST00000379907.4	37	c.1185C>A	CCDS47846.1																																																																																				PASS	0.338	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377089.1	NM_145004		10	26	10	26	---	---	---	---
IDO2	169355	broad.mit.edu	37	8	39840260	39840260	+	Silent	SNP	G	G	T			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr8:39840260G>T	ENST00000389060.4	+	4	405	c.405G>T	c.(403-405)ctG>ctT	p.L135L	IDO2_ENST00000502986.2_Silent_p.L148L|RP11-44K6.3_ENST00000517623.1_RNA|IDO2_ENST00000343295.4_3'UTR			Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	135					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)	p.L135L(1)|p.L148L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						ACTTGGTGCTGACGAACTGGA	0.468																																						uc010lwy.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(442-444)CTG>CTT		indoleamine-pyrrole 2,3 dioxygenase-like 1							61.0	61.0	61.0					8																	39840260		1894	4112	6006	SO:0001819	synonymous_variant	169355				tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity	g.chr8:39840260G>T	AK128691		8p11.21	2012-04-19	2009-01-07	2009-01-07	ENSG00000188676	ENSG00000188676			27269	protein-coding gene	gene with protein product		612129	"""indoleamine-pyrrole 2,3 dioxygenase-like 1"""	INDOL1			Standard	NM_194294		Approved		uc010lwy.1	Q6ZQW0	OTTHUMG00000141271	ENST00000389060.4:c.405G>T	8.37:g.39840260G>T						IDO2_uc003xno.1_RNA|IDO2_uc010lwz.1_Intron	p.L148L	NM_194294	NP_919270	Q6ZQW0	I23O2_HUMAN			5	686	+			135					A4UD41	Silent	SNP	ENST00000389060.4	37	c.444G>T																																																																																					PASS	0.468	IDO2-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372742.1	NM_194294		9	25	9	25	---	---	---	---
GDAP1	54332	broad.mit.edu	37	8	75275219	75275219	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr8:75275219C>G	ENST00000220822.7	+	5	705	c.625C>G	c.(625-627)Ctt>Gtt	p.L209V	GDAP1_ENST00000521096.1_3'UTR|GDAP1_ENST00000434412.2_Missense_Mutation_p.L141V	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	ganglioside induced differentiation associated protein 1	209	GST C-terminal.				cell death (GO:0008219)|mitochondrial fission (GO:0000266)|protein targeting to mitochondrion (GO:0006626)|response to retinoic acid (GO:0032526)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|nucleus (GO:0005634)		p.L209V(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			GAAGAAAATTCTTGATGAGTT	0.318																																						uc003yah.2																			1	Substitution - Missense(1)		lung(1)		0						c.(625-627)CTT>GTT		ganglioside-induced differentiation-associated							109.0	120.0	116.0					8																	75275219		2202	4300	6502	SO:0001583	missense	54332					cytoplasm		g.chr8:75275219C>G		CCDS34911.1, CCDS47877.1	8q13.3	2014-09-17	2012-02-09						15968	protein-coding gene	gene with protein product		606598	"""Charcot-Marie-Tooth neuropathy 4A"""	CMT4A		8268915, 11743579	Standard	NM_018972		Approved	CMT4	uc003yah.3	Q8TB36		ENST00000220822.7:c.625C>G	8.37:g.75275219C>G	ENSP00000220822:p.Leu209Val					GDAP1_uc011lfj.1_Missense_Mutation_p.L94V|GDAP1_uc003yai.2_Missense_Mutation_p.L141V	p.L209V	NM_018972	NP_061845	Q8TB36	GDAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)		5	704	+	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	209			GST C-terminal.		A8K957|E7FJF3|E7FJF4	Missense_Mutation	SNP	ENST00000220822.7	37	c.625C>G	CCDS34911.1	.	.	.	.	.	.	.	.	.	.	C	19.37	3.814900	0.70912	.	.	ENSG00000104381	ENST00000220822;ENST00000434412	D;D	0.93189	-3.18;-3.18	4.45	4.45	0.53987	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.000000	0.64402	D	0.000002	D	0.93350	0.7880	L	0.31294	0.92	0.47341	D	0.999391	D	0.71674	0.998	D	0.79108	0.992	D	0.92057	0.5653	10	0.37606	T	0.19	-12.085	12.1556	0.54074	0.0:0.9175:0.0:0.0825	.	209	Q8TB36	GDAP1_HUMAN	V	209;141	ENSP00000220822:L209V;ENSP00000417006:L141V	ENSP00000220822:L209V	L	+	1	0	GDAP1	75437774	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.515000	0.67049	2.477000	0.83638	0.655000	0.94253	CTT		PASS	0.318	GDAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379061.1	NM_018972		27	217	27	217	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110417312	110417312	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr8:110417312C>T	ENST00000378402.5	+	16	1726	c.1622C>T	c.(1621-1623)tCa>tTa	p.S541L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	541					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.S543L(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)			GAAGCTAATTCATGTTCACTT	0.313										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.(1621-1623)TCA>TTA		fibrocystin L precursor							28.0	28.0	28.0					8																	110417312		1807	4067	5874	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110417312C>T	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.1622C>T	8.37:g.110417312C>T	ENSP00000367655:p.Ser541Leu	HNSCC(38;0.096)					p.S541L	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		16	1726	+			541			Extracellular (Potential).		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.1622C>T	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.416212	0.42918	.	.	ENSG00000205038	ENST00000378402	D	0.85955	-2.05	5.65	3.75	0.43078	.	0.491969	0.19790	N	0.106009	T	0.75627	0.3875	L	0.31294	0.92	0.18873	N	0.999989	B	0.15473	0.013	B	0.06405	0.002	T	0.65315	-0.6198	10	0.45353	T	0.12	.	9.4061	0.38462	0.0:0.8183:0.0:0.1817	.	541	Q86WI1	PKHL1_HUMAN	L	541	ENSP00000367655:S541L	ENSP00000367655:S541L	S	+	2	0	PKHD1L1	110486488	0.132000	0.22450	0.800000	0.32199	0.955000	0.61496	2.097000	0.41748	1.285000	0.44548	0.650000	0.86243	TCA		PASS	0.313	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		4	12	4	12	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113418818	113418818	+	Missense_Mutation	SNP	G	G	A	rs553075730		TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr8:113418818G>A	ENST00000297405.5	-	35	5988	c.5744C>T	c.(5743-5745)gCa>gTa	p.A1915V	CSMD3_ENST00000455883.2_Missense_Mutation_p.A1811V|CSMD3_ENST00000343508.3_Missense_Mutation_p.A1875V|CSMD3_ENST00000352409.3_Missense_Mutation_p.A1845V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1915	Sushi 10. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A1875V(1)|p.A1915V(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACACCTAATTGCTATGGATCC	0.383										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - Missense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(5743-5745)GCA>GTA		CUB and Sushi multiple domains 3 isoform 1							108.0	108.0	108.0					8																	113418818		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113418818G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.5744C>T	8.37:g.113418818G>A	ENSP00000297405:p.Ala1915Val	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.A1117V|CSMD3_uc003ynt.2_Missense_Mutation_p.A1875V|CSMD3_uc011lhx.1_Missense_Mutation_p.A1811V	p.A1915V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			35	5903	-			1915			Sushi 10.|Extracellular (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.5744C>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.808615	0.90707	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.62364	0.03;0.03;0.03;0.03;0.03	4.91	4.91	0.64330	Complement control module (2);Sushi/SCR/CCP (3);	0.076236	0.51477	D	0.000096	T	0.60996	0.2312	N	0.20766	0.605	0.39045	D	0.960211	B;B;P	0.36587	0.438;0.066;0.559	B;B;P	0.51101	0.341;0.099;0.659	T	0.59700	-0.7405	10	0.28530	T	0.3	.	15.7908	0.78364	0.0:0.1359:0.8641:0.0	.	1811;1915;1875	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	V	1875;1915;1185;1811;1845	ENSP00000345799:A1875V;ENSP00000297405:A1915V;ENSP00000341558:A1185V;ENSP00000412263:A1811V;ENSP00000343124:A1845V	ENSP00000297405:A1915V	A	-	2	0	CSMD3	113487994	1.000000	0.71417	0.984000	0.44739	0.992000	0.81027	7.732000	0.84908	2.723000	0.93209	0.655000	0.94253	GCA		PASS	0.383	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		13	172	13	172	---	---	---	---
COL22A1	169044	broad.mit.edu	37	8	139706804	139706804	+	Splice_Site	SNP	C	C	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr8:139706804C>A	ENST00000303045.6	-	34	3093	c.2647G>T	c.(2647-2649)Gga>Tga	p.G883*	COL22A1_ENST00000435777.1_Splice_Site_p.G883*|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	883	Collagen-like 7.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.G883*(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCCTGCAGTCCCTGTAAGCAC	0.572										HNSCC(7;0.00092)																												uc003yvd.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(11)|pancreas(1)|skin(1)	13						c.(2647-2649)GGA>TGA		collagen, type XXII, alpha 1							82.0	72.0	75.0					8																	139706804		2203	4300	6503	SO:0001630	splice_region_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139706804C>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.2647-1G>T	8.37:g.139706804C>A		HNSCC(7;0.00092)				COL22A1_uc011ljo.1_Nonsense_Mutation_p.G183*	p.G883*	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		34	3094	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		883			Pro-rich.|Gly-rich.|Collagen-like 7.		B7ZMH0|C9K0G4|Q8IVT9	Nonsense_Mutation	SNP	ENST00000303045.6	37	c.2647G>T	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	42	9.251594	0.99115	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	.	.	.	3.92	3.92	0.45320	.	0.000000	0.47455	U	0.000229	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.7291	0.51726	0.0:1.0:0.0:0.0	.	.	.	.	X	883;883;596	.	ENSP00000303153:G883X	G	-	1	0	COL22A1	139775986	1.000000	0.71417	0.998000	0.56505	0.040000	0.13550	3.008000	0.49544	2.488000	0.83962	0.655000	0.94253	GGA		PASS	0.572	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257	Nonsense_Mutation	25	74	25	74	---	---	---	---
PLEC	5339	broad.mit.edu	37	8	144993708	144993708	+	Silent	SNP	C	C	G			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr8:144993708C>G	ENST00000322810.4	-	32	10861	c.10692G>C	c.(10690-10692)ctG>ctC	p.L3564L	PLEC_ENST00000345136.3_Silent_p.L3427L|PLEC_ENST00000354589.3_Silent_p.L3427L|PLEC_ENST00000357649.2_Silent_p.L3431L|PLEC_ENST00000354958.2_Silent_p.L3405L|PLEC_ENST00000527096.1_Silent_p.L3450L|PLEC_ENST00000356346.3_Silent_p.L3413L|PLEC_ENST00000398774.2_Silent_p.L3395L|PLEC_ENST00000436759.2_Silent_p.L3454L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3564	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.L3454L(1)|p.L3427L(1)|p.L3564L(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCTCGGCAGACAGCAGCTGCT	0.672																																						uc003zaf.1																			3	Substitution - coding silent(3)		lung(3)	large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(10690-10692)CTG>CTC		plectin isoform 1							28.0	34.0	32.0					8																	144993708		1969	4147	6116	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144993708C>G	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.10692G>C	8.37:g.144993708C>G						PLEC_uc003zab.1_Silent_p.L3427L|PLEC_uc003zac.1_Silent_p.L3431L|PLEC_uc003zad.2_Silent_p.L3427L|PLEC_uc003zae.1_Silent_p.L3395L|PLEC_uc003zag.1_Silent_p.L3405L|PLEC_uc003zah.2_Silent_p.L3413L|PLEC_uc003zaj.2_Silent_p.L3454L	p.L3564L	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	10862	-			3564			Plectin 14.|Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.10692G>C	CCDS43772.1																																																																																				PASS	0.672	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		7	25	7	25	---	---	---	---
MPDZ	8777	broad.mit.edu	37	9	13138074	13138074	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr9:13138074C>A	ENST00000319217.7	-	29	4329	c.4082G>T	c.(4081-4083)gGc>gTc	p.G1361V	MPDZ_ENST00000541718.1_Missense_Mutation_p.G1361V|MPDZ_ENST00000536827.1_Missense_Mutation_p.G1328V|MPDZ_ENST00000538841.1_Missense_Mutation_p.G220V|MPDZ_ENST00000447879.1_Missense_Mutation_p.G1328V|MPDZ_ENST00000381015.4_Missense_Mutation_p.G1361V|MPDZ_ENST00000540202.1_5'UTR|MPDZ_ENST00000541093.1_5'Flank|MPDZ_ENST00000381022.2_Missense_Mutation_p.G1361V|MPDZ_ENST00000546205.1_Missense_Mutation_p.G1375V	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1361	PDZ 8. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)	p.G1361V(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		AAGACTTAGGCCCAAACCACT	0.438																																						uc010mia.1																			2	Substitution - Missense(2)		lung(2)	ovary(5)|central_nervous_system(1)	6						c.(4081-4083)GGC>GTC		multiple PDZ domain protein							91.0	85.0	87.0					9																	13138074		1893	4137	6030	SO:0001583	missense	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13138074C>A	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.4082G>T	9.37:g.13138074C>A	ENSP00000320006:p.Gly1361Val					MPDZ_uc003zky.3_5'Flank|MPDZ_uc010mib.2_Missense_Mutation_p.G66V|MPDZ_uc010mhx.2_Missense_Mutation_p.G183V|MPDZ_uc011lmm.1_Missense_Mutation_p.G220V|MPDZ_uc003zkz.3_Missense_Mutation_p.G54V|MPDZ_uc010mhy.2_Missense_Mutation_p.G1361V|MPDZ_uc010mhz.2_Missense_Mutation_p.G1328V|MPDZ_uc011lmn.1_Missense_Mutation_p.G1328V|MPDZ_uc003zlb.3_Missense_Mutation_p.G1361V	p.G1361V	NM_003829	NP_003820	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	28	4139	-			1361			PDZ 8.		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37	c.4082G>T		.	.	.	.	.	.	.	.	.	.	C	32	5.163796	0.94727	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000545857;ENST00000538841;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205;ENST00000433359	D;D;D;D;D;D;D;D;D;D	0.90324	-2.65;-2.65;-2.65;-2.65;-2.65;-2.65;-2.65;-2.65;-2.65;-2.65	5.72	5.72	0.89469	.	0.000000	0.47852	D	0.000207	D	0.97695	0.9244	H	0.98901	4.365	0.80722	D	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;1.0;1.0;1.0	D	0.98863	1.0763	10	0.87932	D	0	.	19.8765	0.96875	0.0:1.0:0.0:0.0	.	1328;220;66;1328;1241;1361	B7ZMI4;B7ZB24;B4DGX5;O75970-3;E7EPZ1;O75970-2	.;.;.;.;.;.	V	1361;1361;1361;297;220;1328;1328;1361;1241;1375;183	ENSP00000320006:G1361V;ENSP00000439807:G1361V;ENSP00000370410:G1361V;ENSP00000444230:G297V;ENSP00000444717:G220V;ENSP00000444151:G1328V;ENSP00000415208:G1328V;ENSP00000370403:G1361V;ENSP00000446358:G1375V;ENSP00000389705:G183V	ENSP00000320006:G1361V	G	-	2	0	MPDZ	13128074	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.786000	0.85741	2.695000	0.91970	0.650000	0.86243	GGC		PASS	0.438	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		20	33	20	33	---	---	---	---
CDKN2A	1029	broad.mit.edu	37	9	21974748	21974748	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr9:21974748C>A	ENST00000304494.5	-	1	349	c.79G>T	c.(79-81)Gag>Tag	p.E27*	CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.E27*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.E27*|CDKN2A_ENST00000530628.2_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.E27*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	27					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(23)|p.0(1)|p.E27*(1)|p.R22fs*14(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCCCGCACCTCCTCTACCCGA	0.741		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1341	Whole gene deletion(1316)|Unknown(23)|Substitution - Nonsense(1)|Deletion - Frameshift(1)	p.0?(1112)|p.?(23)|p.E27*(1)|p.R22fs*14(1)	haematopoietic_and_lymphoid_tissue(278)|skin(168)|central_nervous_system(163)|lung(146)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(52)|oesophagus(50)|upper_aerodigestive_tract(48)|ovary(34)|kidney(31)|breast(30)|pancreas(29)|thyroid(14)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678	GRCh37	CM063892	CDKN2A	M		c.(79-81)GAG>TAG		cyclin-dependent kinase inhibitor 2A isoform 1							22.0	28.0	26.0					9																	21974748		1931	3924	5855	SO:0001587	stop_gained	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21974748C>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.79G>T	9.37:g.21974748C>A	ENSP00000307101:p.Glu27*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_Nonsense_Mutation_p.E27*|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Intron	p.E27*	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	1	291	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	27			ANK 1.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.79G>T	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	C	34	5.388410	0.95988	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	.	.	.	4.89	3.03	0.35002	.	.	.	.	.	.	.	.	.	.	.	0.46061	D	0.998844	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	9.6006	0.39601	0.0:0.7769:0.1434:0.0797	.	.	.	.	X	27	.	ENSP00000307101:E27X	E	-	1	0	CDKN2A	21964748	0.000000	0.05858	0.474000	0.27266	0.695000	0.40330	0.288000	0.18939	0.755000	0.32990	0.655000	0.94253	GAG		PASS	0.741	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		5	6	5	6	---	---	---	---
VPS13A	23230	broad.mit.edu	37	9	79954514	79954514	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr9:79954514A>G	ENST00000360280.3	+	48	6721	c.6461A>G	c.(6460-6462)cAt>cGt	p.H2154R	VPS13A_ENST00000376636.3_Missense_Mutation_p.H2115R|VPS13A_ENST00000376634.4_Missense_Mutation_p.H2154R|VPS13A_ENST00000357409.5_Missense_Mutation_p.H2154R	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2154					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)		p.H2154R(3)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GCCAGGCTACATTTAAAATTA	0.333																																						uc004akr.2																			3	Substitution - Missense(3)		lung(3)	pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						c.(6460-6462)CAT>CGT		vacuolar protein sorting 13A isoform A							46.0	40.0	42.0					9																	79954514		2203	4299	6502	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79954514A>G	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.6461A>G	9.37:g.79954514A>G	ENSP00000353422:p.His2154Arg					VPS13A_uc004akp.3_Missense_Mutation_p.H2154R|VPS13A_uc004akq.3_Missense_Mutation_p.H2154R|VPS13A_uc004aks.2_Missense_Mutation_p.H2115R	p.H2154R	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN			48	6721	+			2154					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.6461A>G	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	A	1.373	-0.585668	0.03827	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.46063	1.05;0.88;0.96;1.05	5.96	3.62	0.41486	.	0.124054	0.53938	N	0.000057	T	0.44850	0.1313	M	0.63428	1.95	0.30517	N	0.768866	B;P;P;P	0.46457	0.275;0.65;0.878;0.878	B;B;P;P	0.46685	0.219;0.256;0.524;0.524	T	0.45220	-0.9276	10	0.18710	T	0.47	.	13.4869	0.61371	0.9069:0.0:0.0931:0.0	.	2115;2154;2154;2154	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	R	2154;2115;2154;2154	ENSP00000365821:H2154R;ENSP00000365823:H2115R;ENSP00000353422:H2154R;ENSP00000349985:H2154R	ENSP00000349985:H2154R	H	+	2	0	VPS13A	79144334	1.000000	0.71417	0.082000	0.20525	0.087000	0.18053	4.926000	0.63433	0.157000	0.19338	-1.964000	0.00472	CAT		PASS	0.333	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		14	36	14	36	---	---	---	---
ZCCHC6	79670	broad.mit.edu	37	9	88943339	88943339	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr9:88943339G>C	ENST00000375963.3	-	11	1696	c.1524C>G	c.(1522-1524)atC>atG	p.I508M	ZCCHC6_ENST00000375960.2_Missense_Mutation_p.I385M|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.I508M|ZCCHC6_ENST00000277141.6_De_novo_Start_OutOfFrame	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	508					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)	p.I508M(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						TATGTTCCCAGATCACAACAT	0.398																																						uc004aoq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1522-1524)ATC>ATG		zinc finger, CCHC domain containing 6							229.0	203.0	212.0					9																	88943339		2203	4300	6503	SO:0001583	missense	79670				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding	g.chr9:88943339G>C	AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.1524C>G	9.37:g.88943339G>C	ENSP00000365130:p.Ile508Met					ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Missense_Mutation_p.I385M|ZCCHC6_uc004aou.2_Missense_Mutation_p.I508M	p.I508M	NM_024617	NP_078893	Q5VYS8	TUT7_HUMAN			11	1739	-			508					Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	ENST00000375963.3	37	c.1524C>G	CCDS35057.1	.	.	.	.	.	.	.	.	.	.	G	7.762	0.705536	0.15172	.	.	ENSG00000083223	ENST00000375960;ENST00000375961;ENST00000375963	T;T;T	0.44881	0.91;1.18;1.18	5.21	-0.208	0.13185	.	0.539110	0.20992	N	0.082011	T	0.17450	0.0419	N	0.19112	0.55	0.25496	N	0.987592	P;B	0.37636	0.603;0.257	B;B	0.30495	0.116;0.054	T	0.09122	-1.0689	10	0.33141	T	0.24	-12.3847	1.8173	0.03103	0.2665:0.2711:0.344:0.1184	.	385;508	Q5VYS8-4;Q5VYS8	.;TUT7_HUMAN	M	385;508;508	ENSP00000365127:I385M;ENSP00000365128:I508M;ENSP00000365130:I508M	ENSP00000365127:I385M	I	-	3	3	ZCCHC6	88133159	0.883000	0.30277	0.987000	0.45799	0.109000	0.19521	0.191000	0.17076	0.065000	0.16485	0.462000	0.41574	ATC		PASS	0.398	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617		104	281	104	281	---	---	---	---
PTCH1	5727	broad.mit.edu	37	9	98244316	98244316	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr9:98244316C>T	ENST00000331920.6	-	5	960	c.661G>A	c.(661-663)Gaa>Aaa	p.E221K	PTCH1_ENST00000375274.2_Missense_Mutation_p.E220K|PTCH1_ENST00000429896.2_Missense_Mutation_p.E70K|PTCH1_ENST00000548379.1_5'UTR|PTCH1_ENST00000421141.1_Missense_Mutation_p.E70K|PTCH1_ENST00000468211.2_Missense_Mutation_p.E155K|PTCH1_ENST00000418258.1_Missense_Mutation_p.E70K|PTCH1_ENST00000430669.2_Missense_Mutation_p.E155K|PTCH1_ENST00000437951.1_Missense_Mutation_p.E155K	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	221					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.E221K(2)|p.E220K(2)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				TAAAGATATTCTATTATCTGT	0.408																																						uc004avk.3																			4	Substitution - Missense(4)		lung(4)	skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379	GRCh37	CM054086	PTCH1	M		c.(661-663)GAA>AAA		patched isoform L							83.0	78.0	80.0					9																	98244316		2203	4300	6503	SO:0001583	missense	5727	Basal_Cell_Nevus_syndrome			embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	g.chr9:98244316C>T	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.661G>A	9.37:g.98244316C>T	ENSP00000332353:p.Glu221Lys					PTCH1_uc010mro.2_Missense_Mutation_p.E70K|PTCH1_uc010mrp.2_Missense_Mutation_p.E70K|PTCH1_uc010mrq.2_Missense_Mutation_p.E70K|PTCH1_uc004avl.3_Missense_Mutation_p.E70K|PTCH1_uc010mrr.2_Missense_Mutation_p.E155K|PTCH1_uc004avm.3_Missense_Mutation_p.E220K|PTCH1_uc010mrs.1_5'Flank|PTCH1_uc010mrt.1_RNA|PTCH1_uc010mru.1_Intron|PTCH1_uc004avo.2_Missense_Mutation_p.E155K|PTCH1_uc010mrv.1_RNA	p.E221K	NM_000264	NP_000255	Q13635	PTC1_HUMAN			5	849	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	221			Extracellular (Potential).		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	c.661G>A	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	C	31	5.063813	0.93898	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274;ENST00000553011;ENST00000551845;ENST00000547672;ENST00000546820;ENST00000468211;ENST00000551630	D;D;D;D;D;D;D;D;D;D;D;D;D	0.91464	-2.84;-2.82;-2.85;-2.85;-2.82;-2.85;-2.85;-2.18;-2.18;-2.18;-2.18;-2.53;-1.78	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.94298	0.8168	L	0.61036	1.89	0.80722	D	1	P;D;P	0.61697	0.685;0.99;0.866	P;P;P	0.62560	0.511;0.904;0.521	D	0.93402	0.6761	10	0.51188	T	0.08	-21.7866	20.4388	0.99107	0.0:1.0:0.0:0.0	.	155;220;221	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	K	221;155;70;70;155;70;220;70;70;70;70;155;70	ENSP00000332353:E221K;ENSP00000389744:E155K;ENSP00000399981:E70K;ENSP00000396135:E70K;ENSP00000410287:E155K;ENSP00000414823:E70K;ENSP00000364423:E220K;ENSP00000447797:E70K;ENSP00000447008:E70K;ENSP00000447878:E70K;ENSP00000448843:E70K;ENSP00000449745:E155K;ENSP00000450131:E70K	ENSP00000332353:E221K	E	-	1	0	PTCH1	97284137	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.487000	0.81328	2.836000	0.97738	0.655000	0.94253	GAA		PASS	0.408	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		4	88	4	88	---	---	---	---
ABL1	25	broad.mit.edu	37	9	133753888	133753888	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr9:133753888G>C	ENST00000318560.5	+	8	1738	c.1357G>C	c.(1357-1359)Gag>Cag	p.E453Q		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	453	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)	p.E453Q(1)		breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	TGAGCTGCTAGAGAAGGACTA	0.507			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																	uc004bzw.2				Dom	yes		9	9q34.1	25	T|Mis	v-abl Abelson murine leukemia viral oncogene homolog 1			L	BCR|ETV6|NUP214		CML|ALL|T-ALL		1	Substitution - Missense(1)	p.E453K(2)|p.E453D(1)|p.E453L(1)	lung(1)	haematopoietic_and_lymphoid_tissue(807)|lung(5)|stomach(2)|central_nervous_system(1)|breast(1)|skin(1)	817						c.(1357-1359)GAG>CAG		c-abl oncogene 1, receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)						171.0	168.0	169.0					9																	133753888		2203	4300	6503	SO:0001583	missense	25				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr9:133753888G>C	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.1357G>C	9.37:g.133753888G>C	ENSP00000323315:p.Glu453Gln					ABL1_uc004bzv.2_Missense_Mutation_p.E472Q	p.E453Q	NM_005157	NP_005148	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	8	1360	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	453			Protein kinase.		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	ENST00000318560.5	37	c.1357G>C	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.495391	0.85069	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	D;D	0.83335	-1.71;-1.71	5.01	4.11	0.48088	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.108051	0.64402	D	0.000008	D	0.83275	0.5219	L	0.35414	1.06	0.80722	D	1	P;P	0.49783	0.928;0.928	P;P	0.56434	0.693;0.798	D	0.84826	0.0799	10	0.87932	D	0	.	12.6609	0.56813	0.0804:0.0:0.9196:0.0	.	453;490	P00519;Q59FK4	ABL1_HUMAN;.	Q	268;472;453	ENSP00000361423:E472Q;ENSP00000323315:E453Q	ENSP00000323315:E453Q	E	+	1	0	ABL1	132743709	1.000000	0.71417	0.990000	0.47175	0.893000	0.52053	7.885000	0.87282	1.236000	0.43740	0.655000	0.94253	GAG		PASS	0.507	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		28	410	28	410	---	---	---	---
C10orf71	118461	broad.mit.edu	37	10	50531322	50531322	+	Silent	SNP	C	C	T	rs368739800		TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr10:50531322C>T	ENST00000374144.3	+	3	1020	c.732C>T	c.(730-732)acC>acT	p.T244T	C10orf71_ENST00000323868.4_Silent_p.T244T			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	244								p.T244T(2)		endometrium(1)	1						ACACGGCCACCTTATGTGAGT	0.552																																						uc010qgp.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(730-732)ACC>ACT		hypothetical protein LOC118461 isoform 2		C	,	0,4014		0,0,2007	32.0	37.0	35.0		732,732	-0.1	0.0	10		35	1,8335		0,1,4167	no	coding-synonymous,coding-synonymous	C10orf71	NM_001135196.1,NM_199459.3	,	0,1,6174	TT,TC,CC		0.012,0.0,0.0081	,	244/1436,244/720	50531322	1,12349	2007	4168	6175	SO:0001819	synonymous_variant	118461							g.chr10:50531322C>T	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.732C>T	10.37:g.50531322C>T							p.T244T	NM_199459	NP_955629	Q711Q0	CJ071_HUMAN			3	1071	+			244					A0AVL8	Silent	SNP	ENST00000374144.3	37	c.732C>T	CCDS44387.1																																																																																				PASS	0.552	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		11	7	11	7	---	---	---	---
NCOA4	8031	broad.mit.edu	37	10	51582221	51582221	+	Silent	SNP	A	A	T			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr10:51582221A>T	ENST00000443446.1	+	6	748	c.519A>T	c.(517-519)gcA>gcT	p.A173A	NCOA4_ENST00000438493.1_Silent_p.A189A|NCOA4_ENST00000374087.4_Silent_p.A173A|NCOA4_ENST00000374082.1_Silent_p.A173A|NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000344348.6_Silent_p.A173A|NCOA4_ENST00000452682.1_Silent_p.A189A|NCOA4_ENST00000430396.2_Silent_p.A73A|NCOA4_ENST00000414907.2_Silent_p.A7A	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	173					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)	p.A189A(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						CTAGTTCAGCAAATATTGGGC	0.363			T	RET	papillary thyroid																																	uc001jis.3				Dom	yes		10	10q11.2	8031	T	nuclear receptor coactivator 4 - PTC3 (ELE1)			E	RET		papillary thyroid 		1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|kidney(1)	2						c.(517-519)GCA>GCT		nuclear receptor coactivator 4 isoform 3							103.0	98.0	100.0					10																	51582221		2203	4300	6503	SO:0001819	synonymous_variant	8031				androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity	g.chr10:51582221A>T	L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"""RET-activating gene ELE1"""	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.519A>T	10.37:g.51582221A>T						PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron|NCOA4_uc009xon.2_Silent_p.A189A|NCOA4_uc010qhd.1_Silent_p.A189A|NCOA4_uc010qhe.1_Silent_p.A73A|NCOA4_uc010qhf.1_Silent_p.A7A|NCOA4_uc001jit.2_Silent_p.A173A|NCOA4_uc009xoo.2_Silent_p.A173A	p.A173A	NM_001145263	NP_001138735	Q13772	NCOA4_HUMAN			6	722	+			173					A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Silent	SNP	ENST00000443446.1	37	c.519A>T	CCDS7237.1	.	.	.	.	.	.	.	.	.	.	A	9.415	1.081597	0.20309	.	.	ENSG00000138293	ENST00000431200	.	.	.	5.87	1.95	0.26073	.	.	.	.	.	.	.	.	.	.	.	0.30741	N	0.746207	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.9853	11.5542	0.50737	0.5693:0.4307:0.0:0.0	.	.	.	.	X	89	.	.	K	+	1	0	NCOA4	51252227	0.722000	0.28017	0.775000	0.31657	0.826000	0.46750	0.395000	0.20850	0.525000	0.28522	-0.316000	0.08728	AAA		PASS	0.363	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048052.1	NM_005437		38	92	38	92	---	---	---	---
PRKG1	5592	broad.mit.edu	37	10	54032153	54032153	+	Splice_Site	SNP	C	C	A	rs142314590		TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr10:54032153C>A	ENST00000401604.2	+	12	1464	c.1270C>A	c.(1270-1272)Ctg>Atg	p.L424M	PRKG1_ENST00000373985.1_Splice_Site_p.L412M|PRKG1_ENST00000373980.4_Splice_Site_p.L439M|PRKG1_ENST00000373975.2_Splice_Site_p.L142M|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1-AS1_ENST00000452247.2_RNA			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	424	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)	p.L439M(1)|p.L424M(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		AATTTACAGACTGTACAGAAC	0.373																																						uc001jjm.2																			2	Substitution - Missense(2)		lung(2)	lung(2)|stomach(1)|ovary(1)|central_nervous_system(1)|skin(1)	6						c.(1270-1272)CTG>ATG		protein kinase, cGMP-dependent, type I isoform							114.0	111.0	112.0					10																	54032153		2203	4300	6503	SO:0001630	splice_region_variant	5592				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr10:54032153C>A		CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.1269-1C>A	10.37:g.54032153C>A						PRKG1_uc001jjo.2_Missense_Mutation_p.L439M|PRKG1_uc009xow.1_Missense_Mutation_p.L142M|uc001jjq.1_Intron	p.L424M	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)	12	1464	+		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)	424			Protein kinase.		A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Missense_Mutation	SNP	ENST00000401604.2	37	c.1270C>A	CCDS44399.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.427685	0.62733	.	.	ENSG00000185532	ENST00000401604;ENST00000373985;ENST00000373980;ENST00000332193;ENST00000373975	T;T;T	0.12672	2.66;2.66;2.66	6.08	3.13	0.36017	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.22475	0.0542	L	0.41710	1.295	0.80722	D	1	D;D;D	0.65815	0.994;0.982;0.995	P;P;P	0.62382	0.901;0.775;0.856	T	0.00441	-1.1737	10	0.56958	D	0.05	-10.5226	9.3276	0.38001	0.0:0.7132:0.0:0.2868	.	142;439;424	B3KSF3;Q13976-2;Q13976	.;.;KGP1_HUMAN	M	424;412;439;142;36	ENSP00000384200:L424M;ENSP00000363097:L412M;ENSP00000363092:L439M	ENSP00000327642:L142M	L	+	1	2	PRKG1	53702159	1.000000	0.71417	0.929000	0.37066	0.952000	0.60782	1.090000	0.30902	0.400000	0.25396	-0.229000	0.12294	CTG		PASS	0.373	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			Missense_Mutation	17	108	17	108	---	---	---	---
R3HCC1L	27291	broad.mit.edu	37	10	99994210	99994210	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr10:99994210G>T	ENST00000298999.3	+	7	2272	c.1969G>T	c.(1969-1971)Gga>Tga	p.G657*	R3HCC1L_ENST00000370586.2_Nonsense_Mutation_p.G63*|R3HCC1L_ENST00000314594.5_Nonsense_Mutation_p.G73*|R3HCC1L_ENST00000370584.3_Nonsense_Mutation_p.G657*	NM_014472.4	NP_055287	Q7Z5L2	R3HCL_HUMAN	R3H domain and coiled-coil containing 1-like	671							nucleotide binding (GO:0000166)	p.G657*(1)									CAGAAAGAAAGGATTTGATAT	0.313																																						uc001kow.3																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(1)|skin(1)	2						c.(1969-1971)GGA>TGA		growth inhibition and differentiation related							117.0	119.0	118.0					10																	99994210		2203	4300	6503	SO:0001587	stop_gained	27291						nucleotide binding	g.chr10:99994210G>T	AF525304	CCDS31267.1, CCDS58093.1, CCDS73178.1	10q24.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166024	ENSG00000166024			23512	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 28"""	C10orf28			Standard	NM_014472		Approved	GIDRP86, PSORT	uc001kox.4	Q7Z5L2	OTTHUMG00000018873	ENST00000298999.3:c.1969G>T	10.37:g.99994210G>T	ENSP00000298999:p.Gly657*					C10orf28_uc001kox.3_Nonsense_Mutation_p.G671*|C10orf28_uc001koy.3_Nonsense_Mutation_p.G657*|C10orf28_uc009xvx.2_Nonsense_Mutation_p.G657*|C10orf28_uc009xvy.2_Nonsense_Mutation_p.G63*|C10orf28_uc001koz.3_RNA	p.G657*	NM_014472	NP_055287	Q4KMY3	Q4KMY3_HUMAN		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)	6	2264	+		Colorectal(252;0.234)	657					O60598|Q5W0B4|Q5W0B5|Q86VT9|Q8N9H0	Nonsense_Mutation	SNP	ENST00000298999.3	37	c.1969G>T	CCDS31267.1	.	.	.	.	.	.	.	.	.	.	G	52	19.636047	0.99922	.	.	ENSG00000166024	ENST00000370584;ENST00000298999;ENST00000370586;ENST00000314594;ENST00000544834	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-20.4465	19.1039	0.93285	0.0:0.0:1.0:0.0	.	.	.	.	X	657;657;63;73;64	.	.	G	+	1	0	C10orf28	99984200	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.792000	0.85828	2.799000	0.96334	0.650000	0.86243	GGA		PASS	0.313	R3HCC1L-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049764.1	NM_014472		5	180	5	180	---	---	---	---
EIF3A	8661	broad.mit.edu	37	10	120802129	120802129	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr10:120802129G>C	ENST00000369144.3	-	19	3030	c.2903C>G	c.(2902-2904)cCt>cGt	p.P968R	EIF3A_ENST00000541549.1_Missense_Mutation_p.P934R	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)	p.P968R(1)		endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		ACCACGTCTAGGGCCTCTGTC	0.592																																						uc001ldu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2902-2904)CCT>CGT		eukaryotic translation initiation factor 3,							115.0	112.0	113.0					10																	120802129		2203	4300	6503	SO:0001583	missense	8661				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	g.chr10:120802129G>C	U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.2903C>G	10.37:g.120802129G>C	ENSP00000358140:p.Pro968Arg					EIF3A_uc010qsu.1_Missense_Mutation_p.P934R|EIF3A_uc009xzg.1_Missense_Mutation_p.P7R	p.P968R	NM_003750	NP_003741	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	19	3049	-		Lung NSC(174;0.094)|all_lung(145;0.123)	968			Asp-rich.|25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|5.		B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	ENST00000369144.3	37	c.2903C>G	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.171151	0.57584	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.22743	1.94;1.94	6.17	4.18	0.49190	.	0.000000	0.39210	N	0.001435	T	0.19366	0.0465	L	0.50333	1.59	0.58432	D	0.999998	B;B	0.23806	0.091;0.0	B;B	0.19946	0.027;0.0	T	0.03875	-1.0996	10	0.22109	T	0.4	-4.2591	12.5388	0.56156	0.1095:0.0:0.8905:0.0	.	934;968	F5H335;Q14152	.;EIF3A_HUMAN	R	968;934	ENSP00000358140:P968R;ENSP00000438178:P934R	ENSP00000358140:P968R	P	-	2	0	EIF3A	120792119	0.998000	0.40836	0.890000	0.34922	0.998000	0.95712	2.653000	0.46691	1.529000	0.49120	0.655000	0.94253	CCT		PASS	0.592	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750		8	228	8	228	---	---	---	---
ZNF215	7762	broad.mit.edu	37	11	6953621	6953621	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr11:6953621G>C	ENST00000278319.5	+	3	706	c.118G>C	c.(118-120)Gag>Cag	p.E40Q	ZNF215_ENST00000527171.1_3'UTR|ZNF215_ENST00000414517.2_Missense_Mutation_p.E40Q|ZNF215_ENST00000529903.1_Missense_Mutation_p.E40Q	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	40					regulation of transcription from RNA polymerase II promoter (GO:0006357)|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.E40Q(1)		NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		CCCCGTCGTGGAGACACATGA	0.498																																						uc001mey.2																			1	Substitution - Missense(1)		lung(1)		0						c.(118-120)GAG>CAG		zinc finger protein 215							96.0	101.0	99.0					11																	6953621		2201	4296	6497	SO:0001583	missense	7762				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:6953621G>C	AF056618	CCDS7775.1	11p15.4	2013-01-09			ENSG00000149054	ENSG00000149054		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13007	protein-coding gene	gene with protein product		605016					Standard	XM_005253130		Approved	ZKSCAN11, ZSCAN43	uc001mey.3	Q9UL58	OTTHUMG00000165507	ENST00000278319.5:c.118G>C	11.37:g.6953621G>C	ENSP00000278319:p.Glu40Gln					ZNF215_uc010raw.1_Missense_Mutation_p.E40Q|ZNF215_uc010rax.1_5'UTR|ZNF215_uc001mez.1_Missense_Mutation_p.E40Q	p.E40Q	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN		Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)	3	706	+			40					Q96C84	Missense_Mutation	SNP	ENST00000278319.5	37	c.118G>C	CCDS7775.1	.	.	.	.	.	.	.	.	.	.	G	8.448	0.852439	0.17106	.	.	ENSG00000149054	ENST00000278319;ENST00000414517;ENST00000529903	T;T;T	0.05855	3.38;3.38;5.93	4.15	-1.1	0.09872	Retrovirus capsid, C-terminal (1);	0.634922	0.13060	N	0.416931	T	0.03695	0.0105	L	0.29908	0.895	0.09310	N	1	B;B;B	0.21905	0.022;0.062;0.022	B;B;B	0.14023	0.01;0.01;0.01	T	0.45600	-0.9250	10	0.18276	T	0.48	-0.848	4.0521	0.09800	0.4118:0.1761:0.4121:0.0	.	40;40;40	B4DYW9;Q96C84;Q9UL58	.;.;ZN215_HUMAN	Q	40	ENSP00000278319:E40Q;ENSP00000393202:E40Q;ENSP00000432306:E40Q	ENSP00000278319:E40Q	E	+	1	0	ZNF215	6910197	0.003000	0.15002	0.000000	0.03702	0.009000	0.06853	0.915000	0.28638	-0.196000	0.10366	-0.768000	0.03414	GAG		PASS	0.498	ZNF215-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384550.1			4	143	4	143	---	---	---	---
PPFIBP2	8495	broad.mit.edu	37	11	7670765	7670765	+	Silent	SNP	C	C	T			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr11:7670765C>T	ENST00000299492.4	+	21	2389	c.2001C>T	c.(1999-2001)aaC>aaT	p.N667N	PPFIBP2_ENST00000533792.1_Silent_p.N509N|PPFIBP2_ENST00000528883.1_Silent_p.N555N|PPFIBP2_ENST00000530181.1_Silent_p.N524N|PPFIBP2_ENST00000530582.1_3'UTR	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	667	SAM 2. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)	p.N667N(1)		breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		TCTTTCAGAACGATTTACTCT	0.443																																						uc001mfj.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(2)	4						c.(1999-2001)AAC>AAT		PTPRF interacting protein, binding protein 2							152.0	153.0	153.0					11																	7670765		2201	4296	6497	SO:0001819	synonymous_variant	8495				cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding	g.chr11:7670765C>T	AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"""Sterile alpha motif (SAM) domain containing"""	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.2001C>T	11.37:g.7670765C>T						PPFIBP2_uc010rbb.1_Silent_p.N590N|PPFIBP2_uc001mfk.1_Intron|PPFIBP2_uc010rbc.1_Silent_p.N601N|PPFIBP2_uc010rbe.1_Silent_p.N555N|PPFIBP2_uc001mfl.3_Silent_p.N524N|PPFIBP2_uc009yfj.1_Silent_p.N311N	p.N667N	NM_003621	NP_003612	Q8ND30	LIPB2_HUMAN		Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)	21	2389	+			667			SAM 2.		B7Z433|E9PK77|O75337|Q8WW26	Silent	SNP	ENST00000299492.4	37	c.2001C>T	CCDS31419.1																																																																																				PASS	0.443	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2	NM_003621		109	294	109	294	---	---	---	---
NELL1	4745	broad.mit.edu	37	11	20940796	20940796	+	Splice_Site	SNP	A	A	T			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr11:20940796A>T	ENST00000357134.5	+	7	828		c.e7-1		NELL1_ENST00000325319.5_Splice_Site|NELL1_ENST00000532434.1_Splice_Site|NELL1_ENST00000298925.5_Splice_Site	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)						cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)	p.?(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						ttCTTTATTGAGCTTGCCCAA	0.313																																						uc001mqe.2																			1	Unknown(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.e7-2		nel-like 1 isoform 1 precursor							77.0	74.0	75.0					11																	20940796		2203	4299	6502	SO:0001630	splice_region_variant	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:20940796A>T	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.677-1A>T	11.37:g.20940796A>T						NELL1_uc001mqf.2_Splice_Site_p.T226_splice|NELL1_uc009yid.2_Splice_Site_p.T254_splice|NELL1_uc010rdo.1_Splice_Site_p.T169_splice|NELL1_uc010rdp.1_Intron	p.T226_splice	NM_006157	NP_006148	Q92832	NELL1_HUMAN			7	830	+								B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Splice_Site	SNP	ENST00000357134.5	37	c.677_splice	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.240729	0.79912	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8989	0.79356	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NELL1	20897372	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.638000	0.91019	2.225000	0.72522	0.528000	0.53228	.		PASS	0.313	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157	Intron	25	83	25	83	---	---	---	---
ANO5	203859	broad.mit.edu	37	11	22242675	22242675	+	Silent	SNP	C	C	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr11:22242675C>A	ENST00000324559.8	+	5	530	c.213C>A	c.(211-213)atC>atA	p.I71I		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	71					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)	p.I71I(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AAGATTCTATCTTCTTCCGAG	0.348																																						uc001mqi.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(3)|ovary(1)	4						c.(211-213)ATC>ATA		anoctamin 5 isoform a							95.0	92.0	93.0					11																	22242675		2203	4300	6503	SO:0001819	synonymous_variant	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22242675C>A	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.213C>A	11.37:g.22242675C>A						ANO5_uc001mqj.2_Silent_p.I70I	p.I71I	NM_213599	NP_998764	Q75V66	ANO5_HUMAN			5	530	+			71			Cytoplasmic (Potential).			Silent	SNP	ENST00000324559.8	37	c.213C>A	CCDS31444.1																																																																																				PASS	0.348	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		23	80	23	80	---	---	---	---
ANO5	203859	broad.mit.edu	37	11	22291937	22291937	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr11:22291937G>T	ENST00000324559.8	+	18	2295	c.1978G>T	c.(1978-1980)Gac>Tac	p.D660Y		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	660					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)	p.D660N(1)|p.D660Y(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCAGGATCATGACCTTGAAAG	0.423																																						uc001mqi.2																			2	Substitution - Missense(2)		urinary_tract(1)|lung(1)	central_nervous_system(3)|ovary(1)	4						c.(1978-1980)GAC>TAC		anoctamin 5 isoform a							166.0	168.0	167.0					11																	22291937		2203	4300	6503	SO:0001583	missense	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22291937G>T	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.1978G>T	11.37:g.22291937G>T	ENSP00000315371:p.Asp660Tyr					ANO5_uc001mqj.2_Missense_Mutation_p.D659Y	p.D660Y	NM_213599	NP_998764	Q75V66	ANO5_HUMAN			18	2295	+			660			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000324559.8	37	c.1978G>T	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.880944	0.91740	.	.	ENSG00000171714	ENST00000324559	T	0.64260	-0.09	5.71	5.71	0.89125	.	0.086447	0.85682	D	0.000000	T	0.78407	0.4278	M	0.64676	1.99	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.78099	-0.2336	10	0.56958	D	0.05	.	19.8505	0.96738	0.0:0.0:1.0:0.0	.	660	Q75V66	ANO5_HUMAN	Y	660	ENSP00000315371:D660Y	ENSP00000315371:D660Y	D	+	1	0	ANO5	22248513	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.526000	0.73799	2.688000	0.91661	0.655000	0.94253	GAC		PASS	0.423	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		74	185	74	185	---	---	---	---
MAPK8IP1	9479	broad.mit.edu	37	11	45923588	45923588	+	Silent	SNP	C	C	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr11:45923588C>A	ENST00000241014.2	+	4	750	c.580C>A	c.(580-582)Cga>Aga	p.R194R	MAPK8IP1_ENST00000395629.2_Silent_p.R184R	NM_005456.3	NP_005447.1	Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	194	JNK-binding domain (JBD).				JUN phosphorylation (GO:0007258)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|positive regulation of signal transduction (GO:0009967)|regulation of JNK cascade (GO:0046328)|regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic growth cone (GO:0044294)|dentate gyrus mossy fiber (GO:0044302)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase inhibitor activity (GO:0004860)	p.R194R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		TCGGGTGTCTCGATCATCCTC	0.527																																						uc001nbr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)|skin(1)	4						c.(580-582)CGA>AGA		mitogen-activated protein kinase 8 interacting							200.0	194.0	196.0					11																	45923588		2203	4299	6502	SO:0001819	synonymous_variant	9479				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity	g.chr11:45923588C>A		CCDS7916.1	11p11.2	2009-07-24			ENSG00000121653	ENSG00000121653			6882	protein-coding gene	gene with protein product		604641		PRKM8IP		9235893, 9442013	Standard	NM_005456		Approved	IB1, JIP-1, JIP1	uc001nbr.3	Q9UQF2	OTTHUMG00000134324	ENST00000241014.2:c.580C>A	11.37:g.45923588C>A							p.R194R	NM_005456	NP_005447	Q9UQF2	JIP1_HUMAN		GBM - Glioblastoma multiforme(35;0.231)	4	750	+			194			JNK-binding domain (JBD).		D3DQP4|O43407	Silent	SNP	ENST00000241014.2	37	c.580C>A	CCDS7916.1																																																																																				PASS	0.527	MAPK8IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259405.1	NM_005456		9	362	9	362	---	---	---	---
OR4C46	119749	broad.mit.edu	37	11	51515930	51515930	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr11:51515930G>A	ENST00000328188.1	+	1	649	c.649G>A	c.(649-651)Gtg>Atg	p.V217M		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	217						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V217M(1)		endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						GGTCTCCTATGTGGTCATCTT	0.502																																						uc010ric.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(649-651)GTG>ATG		olfactory receptor, family 4, subfamily C,							118.0	101.0	107.0					11																	51515930		2201	4296	6497	SO:0001583	missense	119749				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51515930G>A		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"""GPCR / Class A : Olfactory receptors"""	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.649G>A	11.37:g.51515930G>A	ENSP00000329056:p.Val217Met						p.V217M	NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN			1	649	+			217			Helical; Name=5; (Potential).			Missense_Mutation	SNP	ENST00000328188.1	37	c.649G>A	CCDS31498.1	.	.	.	.	.	.	.	.	.	.	.	1.547	-0.540276	0.04053	.	.	ENSG00000185926	ENST00000328188	T	0.00265	8.39	2.47	0.36	0.16097	GPCR, rhodopsin-like superfamily (1);	0.358447	0.20009	N	0.101164	T	0.00144	0.0004	L	0.28608	0.87	0.09310	N	1	B	0.33477	0.413	B	0.39152	0.292	T	0.29212	-1.0019	10	0.51188	T	0.08	.	2.4601	0.04539	0.2878:0.0:0.4777:0.2345	.	217	A6NHA9	O4C46_HUMAN	M	217	ENSP00000329056:V217M	ENSP00000329056:V217M	V	+	1	0	OR4C46	51372506	0.000000	0.05858	0.128000	0.21923	0.060000	0.15804	-0.384000	0.07389	-0.019000	0.14055	0.121000	0.15741	GTG		PASS	0.502	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	NM_001004703		26	136	26	136	---	---	---	---
APLNR	187	broad.mit.edu	37	11	57003581	57003581	+	Missense_Mutation	SNP	C	C	A	rs7943508	byFrequency	TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr11:57003581C>A	ENST00000606794.1	-	1	1094	c.898G>T	c.(898-900)Gtc>Ttc	p.V300F		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	300			V -> I (in dbSNP:rs7943508).		G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation (GO:0007369)|heart development (GO:0007507)|regulation of body fluid levels (GO:0050878)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)	p.V300F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CAGCTGTTGACGTAGCTGATG	0.597																																						uc001njo.2																			1	Substitution - Missense(1)		lung(1)	lung(5)|ovary(1)	6						c.(898-900)GTC>TTC		apelin receptor							115.0	62.0	80.0					11																	57003581		2201	4296	6497	SO:0001583	missense	187					integral to plasma membrane	G-protein coupled receptor activity	g.chr11:57003581C>A	U03642	CCDS7950.1	11q12.1	2012-08-08	2008-05-12	2008-05-12	ENSG00000134817	ENSG00000134817			339	protein-coding gene	gene with protein product	"""APJ (apelin) receptor"""	600052	"""angiotensin II receptor-like 1"""	AGTRL1		8294032, 14622440	Standard	NM_005161		Approved	FLJ90771, APJ, APJR	uc001njo.3	P35414	OTTHUMG00000167021	ENST00000606794.1:c.898G>T	11.37:g.57003581C>A	ENSP00000475344:p.Val300Phe					APLNR_uc001njn.3_RNA	p.V300F	NM_005161	NP_005152	P35414	APJ_HUMAN			1	1347	-			300			Helical; Name=7; (Potential).			Missense_Mutation	SNP	ENST00000606794.1	37	c.898G>T	CCDS7950.1	.	.	.	.	.	.	.	.	.	.	C	3.346	-0.133497	0.06711	.	.	ENSG00000134817	ENST00000257254;ENST00000326830;ENST00000444275	T	0.38077	1.16	5.46	2.62	0.31277	GPCR, rhodopsin-like superfamily (1);	0.326514	0.28067	N	0.016724	T	0.25644	0.0624	L	0.28740	0.885	0.32539	N	0.533962	P	0.43607	0.812	B	0.42593	0.392	T	0.26643	-1.0097	10	0.26408	T	0.33	-43.2768	8.7044	0.34345	0.0:0.6322:0.0:0.3678	.	300	P35414	APJ_HUMAN	F	300;181;219	ENSP00000257254:V300F	ENSP00000257254:V300F	V	-	1	0	APLNR	56760157	0.163000	0.22920	1.000000	0.80357	0.982000	0.71751	-0.359000	0.07632	0.292000	0.22492	-0.751000	0.03497	GTC		PASS	0.597	APLNR-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470575.1	NM_005161		5	50	5	50	---	---	---	---
ZDHHC5	25921	broad.mit.edu	37	11	57467477	57467477	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr11:57467477G>A	ENST00000287169.3	+	12	3484	c.2122G>A	c.(2122-2124)Ggt>Agt	p.G708S	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.G655S	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	708					protein palmitoylation (GO:0018345)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.G708S(1)		endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						AGGGGTTGGTGGTACCACCTA	0.647																																						uc001nkx.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2122-2124)GGT>AGT		zinc finger, DHHC domain containing 5							71.0	64.0	66.0					11																	57467477		2201	4296	6497	SO:0001583	missense	25921					integral to membrane	acyltransferase activity|zinc ion binding	g.chr11:57467477G>A	AB051535	CCDS7965.1	11q13.1	2008-05-02			ENSG00000156599	ENSG00000156599		"""Zinc fingers, DHHC-type"""	18472	protein-coding gene	gene with protein product		614586				11214970	Standard	NM_015457		Approved	KIAA1748, ZNF375	uc001nkx.1	Q9C0B5	OTTHUMG00000167198	ENST00000287169.3:c.2122G>A	11.37:g.57467477G>A	ENSP00000287169:p.Gly708Ser					ZDHHC5_uc001nky.1_Missense_Mutation_p.G655S|ZDHHC5_uc001nkz.1_Missense_Mutation_p.G522S	p.G708S	NM_015457	NP_056272	Q9C0B5	ZDHC5_HUMAN			12	3378	+			708					Q2TGF0|Q6ZMF0|Q8TAK8|Q9H923|Q9UFI7	Missense_Mutation	SNP	ENST00000287169.3	37	c.2122G>A	CCDS7965.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.829940	0.91036	.	.	ENSG00000156599	ENST00000527985;ENST00000287169	D;T	0.83992	-1.79;-0.9	5.41	5.41	0.78517	.	0.425336	0.25172	N	0.032581	D	0.90635	0.7063	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.90907	0.4773	10	0.87932	D	0	-14.586	18.9814	0.92756	0.0:0.0:1.0:0.0	.	708	Q9C0B5	ZDHC5_HUMAN	S	655;708	ENSP00000432202:G655S;ENSP00000287169:G708S	ENSP00000287169:G708S	G	+	1	0	ZDHHC5	57224053	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.070000	0.93974	2.826000	0.97356	0.655000	0.94253	GGT		PASS	0.647	ZDHHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393694.1	NM_015457		24	71	24	71	---	---	---	---
SLC22A8	9376	broad.mit.edu	37	11	62761028	62761028	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr11:62761028G>T	ENST00000336232.2	-	10	1532	c.1397C>A	c.(1396-1398)aCg>aAg	p.T466K	SLC22A8_ENST00000535878.1_Missense_Mutation_p.T343K|SLC22A8_ENST00000311438.8_Missense_Mutation_p.T466K|SLC22A8_ENST00000430500.2_Missense_Mutation_p.T466K|SLC22A8_ENST00000545207.1_Missense_Mutation_p.T375K|SLC22A8_ENST00000542795.1_5'Flank	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	466					glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651)	p.T466K(1)|p.T466M(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	TACCTCACCCGTGATTTTCAC	0.592																																						uc001nwo.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	skin(2)|ovary(1)	3						c.(1396-1398)ACG>AAG		solute carrier family 22 member 8							91.0	89.0	90.0					11																	62761028		2201	4298	6499	SO:0001583	missense	9376				response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity	g.chr11:62761028G>T	AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452		"""Solute carriers"""	10972	protein-coding gene	gene with protein product		607581				10049739	Standard	NM_004254		Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.1397C>A	11.37:g.62761028G>T	ENSP00000337335:p.Thr466Lys					SLC22A8_uc001nwn.1_3'UTR|SLC22A8_uc001nwp.2_Missense_Mutation_p.T466K|SLC22A8_uc009yom.2_Missense_Mutation_p.T343K|SLC22A8_uc010rmm.1_Missense_Mutation_p.T375K|SLC22A8_uc009yon.2_Missense_Mutation_p.T466K	p.T466K	NM_004254	NP_004245	Q8TCC7	S22A8_HUMAN			10	1533	-			466			Cytoplasmic (Potential).		B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Missense_Mutation	SNP	ENST00000336232.2	37	c.1397C>A	CCDS8042.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.579157	0.65878	.	.	ENSG00000149452	ENST00000336232;ENST00000540631;ENST00000545207;ENST00000535878;ENST00000311438;ENST00000430500	T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31	5.9	3.97	0.46021	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.404643	0.26535	N	0.023840	T	0.73171	0.3553	M	0.86953	2.85	0.26684	N	0.971483	D;D	0.58620	0.979;0.983	P;D	0.64776	0.831;0.929	T	0.66444	-0.5922	10	0.72032	D	0.01	.	6.1089	0.20090	0.3074:0.0:0.6926:0.0	.	466;466	Q8TCC7-2;Q8TCC7	.;S22A8_HUMAN	K	466;452;375;343;466;466	ENSP00000337335:T466K;ENSP00000441658:T375K;ENSP00000443368:T343K;ENSP00000311463:T466K;ENSP00000398548:T466K	ENSP00000311463:T466K	T	-	2	0	SLC22A8	62517604	0.937000	0.31787	0.861000	0.33841	0.866000	0.49608	2.109000	0.41863	1.411000	0.46957	0.591000	0.81541	ACG		PASS	0.592	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396191.1	NM_004254		12	169	12	169	---	---	---	---
GPR152	390212	broad.mit.edu	37	11	67219032	67219032	+	Silent	SNP	G	G	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr11:67219032G>A	ENST00000312457.2	-	1	1168	c.1164C>T	c.(1162-1164)gcC>gcT	p.A388A	CABP4_ENST00000438189.2_5'Flank	NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	388						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A388A(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GCTGTGGCTGGGCTGTGGGAT	0.632																																					Pancreas(102;800 1581 2723 7382 33622)	uc001olm.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1162-1164)GCC>GCT		G protein-coupled receptor 152							66.0	60.0	62.0					11																	67219032		2200	4295	6495	SO:0001819	synonymous_variant	390212					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:67219032G>A	AY255600	CCDS8165.1	11q13.2	2013-09-20			ENSG00000175514	ENSG00000175514		"""GPCR / Class A : Orphans"""	23622	protein-coding gene	gene with protein product						12679517	Standard	NM_206997		Approved	PGR5	uc001olm.3	Q8TDT2	OTTHUMG00000168032	ENST00000312457.2:c.1164C>T	11.37:g.67219032G>A						uc009yrw.1_5'Flank|CABP4_uc001oln.2_5'Flank	p.A388A	NM_206997	NP_996880	Q8TDT2	GP152_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.18e-06)		1	1169	-			388			Cytoplasmic (Potential).		Q0VD88|Q86SM0	Silent	SNP	ENST00000312457.2	37	c.1164C>T	CCDS8165.1																																																																																				PASS	0.632	GPR152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397623.1			6	35	6	35	---	---	---	---
C11orf30	56946	broad.mit.edu	37	11	76256898	76256898	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr11:76256898C>T	ENST00000529032.1	+	19	3331	c.3331C>T	c.(3331-3333)Cgc>Tgc	p.R1111C	C11orf30_ENST00000343878.3_Intron|C11orf30_ENST00000525919.1_Missense_Mutation_p.R1112C|C11orf30_ENST00000525038.1_Missense_Mutation_p.R1112C|C11orf30_ENST00000524767.1_Missense_Mutation_p.R1126C|C11orf30_ENST00000524490.1_Missense_Mutation_p.R1013C|C11orf30_ENST00000334736.3_Missense_Mutation_p.R1111C|C11orf30_ENST00000533248.1_Missense_Mutation_p.R1020C			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	1111					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.R1111C(3)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						TTTTGAGGGGCGCCAGCCTCC	0.453																																						uc001oxl.2																			3	Substitution - Missense(3)		large_intestine(2)|lung(1)	ovary(5)|skin(1)	6						c.(3331-3333)CGC>TGC		EMSY protein							70.0	72.0	71.0					11																	76256898		2200	4292	6492	SO:0001583	missense	56946				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr11:76256898C>T	AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.3331C>T	11.37:g.76256898C>T	ENSP00000432327:p.Arg1111Cys					C11orf30_uc001oxm.2_Missense_Mutation_p.R1013C|C11orf30_uc010rsb.1_Missense_Mutation_p.R1126C|C11orf30_uc010rsc.1_Missense_Mutation_p.R1112C|C11orf30_uc001oxn.2_Missense_Mutation_p.R1112C|C11orf30_uc010rsd.1_Missense_Mutation_p.R1020C|C11orf30_uc010rse.1_Missense_Mutation_p.R358C|C11orf30_uc001oxp.2_Intron	p.R1111C	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN			20	3474	+			1111					B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	ENST00000529032.1	37	c.3331C>T	CCDS8244.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.790075	0.50102	.	.	ENSG00000158636	ENST00000524490;ENST00000334736;ENST00000393457;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032	.	.	.	5.5	4.57	0.56435	.	0.379291	0.30329	N	0.009866	T	0.52677	0.1749	N	0.08118	0	0.80722	D	1	D;P;P;P;P;P	0.76494	0.999;0.923;0.923;0.804;0.564;0.804	D;B;B;B;B;B	0.69654	0.965;0.17;0.17;0.165;0.109;0.165	T	0.63211	-0.6688	9	0.56958	D	0.05	-0.0182	15.6293	0.76888	0.1384:0.8616:0.0:0.0	.	1020;1112;1126;1112;1013;1111	B7ZKT8;B7ZKU2;B7ZKU0;Q17RM7;E9PMC9;Q7Z589	.;.;.;.;.;EMSY_HUMAN	C	1013;1111;793;1126;1020;1112;1112;1111	.	ENSP00000334130:R1111C	R	+	1	0	C11orf30	75934546	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.634000	0.46528	1.505000	0.48720	0.650000	0.86243	CGC		PASS	0.453	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193		19	174	19	174	---	---	---	---
CHORDC1	26973	broad.mit.edu	37	11	89939369	89939369	+	Splice_Site	SNP	C	C	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr11:89939369C>A	ENST00000320585.6	-	7	973		c.e7+1		CHORDC1_ENST00000457199.2_Splice_Site|CHORDC1_ENST00000529726.1_5'UTR|CHORDC1_ENST00000529987.1_Splice_Site	NM_012124.2	NP_036256.2	Q9UHD1	CHRD1_HUMAN	cysteine and histidine-rich domain (CHORD) containing 1						chaperone-mediated protein folding (GO:0061077)|negative regulation of Rho-dependent protein serine/threonine kinase activity (GO:2000299)|regulation of cellular response to heat (GO:1900034)|regulation of centrosome duplication (GO:0010824)|response to stress (GO:0006950)		Hsp90 protein binding (GO:0051879)|zinc ion binding (GO:0008270)	p.?(1)		endometrium(2)|large_intestine(2)|liver(1)|lung(6)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)				GCATAAGTTACCCCTCATGGA	0.323																																						uc001pdg.2																			1	Unknown(1)		lung(1)		0						c.e7+1		cysteine and histidine-rich domain-containing							75.0	73.0	74.0					11																	89939369		2201	4295	6496	SO:0001630	splice_region_variant	26973				chaperone-mediated protein folding|regulation of response to stress|response to stress		Hsp90 protein binding|identical protein binding	g.chr11:89939369C>A	AF192466	CCDS8289.1, CCDS44705.1	11q14.3	2011-01-25	2011-01-25		ENSG00000110172	ENSG00000110172			14525	protein-coding gene	gene with protein product		604353	"""cysteine and histidine-rich domain (CHORD)-containing, zinc-binding protein 1"", ""cysteine and histidine-rich domain (CHORD)-containing 1"""			10571178	Standard	NM_012124		Approved	CHP1	uc001pdg.2	Q9UHD1	OTTHUMG00000167305	ENST00000320585.6:c.563+1G>T	11.37:g.89939369C>A						CHORDC1_uc009yvz.2_Splice_Site_p.G169_splice	p.G188_splice	NM_012124	NP_036256	Q9UHD1	CHRD1_HUMAN			7	973	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)						B2R6P8|Q6IN49|Q8WVL9|Q9H3D6	Splice_Site	SNP	ENST00000320585.6	37	c.563_splice	CCDS8289.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.638785	0.67130	.	.	ENSG00000110172	ENST00000320585;ENST00000457199	.	.	.	4.11	4.11	0.48088	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3659	0.83321	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CHORDC1	89579017	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	3.923000	0.56469	2.595000	0.87683	0.580000	0.79431	.		PASS	0.323	CHORDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394111.1	NM_012124	Intron	57	154	57	154	---	---	---	---
PGR	5241	broad.mit.edu	37	11	100999559	100999559	+	Silent	SNP	C	C	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr11:100999559C>A	ENST00000325455.5	-	1	1696	c.243G>T	c.(241-243)tcG>tcT	p.S81S	PGR_ENST00000534013.1_Intron|PGR_ENST00000263463.5_Silent_p.S81S	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	81	Modulating, Pro-Rich.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|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)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.S81S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	CCTCCACGTCCGACAGCGACT	0.607																																					Pancreas(124;2271 2354 21954 22882)	uc001pgh.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4						c.(241-243)TCG>TCT		progesterone receptor	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)						67.0	60.0	62.0					11																	100999559		2203	4300	6503	SO:0001819	synonymous_variant	5241				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr11:100999559C>A	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.243G>T	11.37:g.100999559C>A						PGR_uc001pgi.2_Silent_p.S81S|PGR_uc009yww.1_RNA|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA|uc010rum.1_5'Flank	p.S81S	NM_000926	NP_000917	P06401	PRGR_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	1	986	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	81			Modulating, Pro-Rich.		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Silent	SNP	ENST00000325455.5	37	c.243G>T	CCDS8310.1																																																																																				PASS	0.607	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			3	69	3	69	---	---	---	---
SIK2	23235	broad.mit.edu	37	11	111558844	111558844	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr11:111558844G>C	ENST00000304987.3	+	4	609	c.436G>C	c.(436-438)Gaa>Caa	p.E146Q		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	146	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.E146Q(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						CCTCAAAGCTGAAAATCTCCT	0.453																																						uc001plt.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|skin(1)	3						c.(436-438)GAA>CAA		SNF1-like kinase 2							106.0	98.0	100.0					11																	111558844		2201	4297	6498	SO:0001583	missense	23235				intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:111558844G>C	AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"""SNF1-like kinase 2"""	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.436G>C	11.37:g.111558844G>C	ENSP00000305976:p.Glu146Gln						p.E146Q	NM_015191	NP_056006	Q9H0K1	SIK2_HUMAN			4	554	+			146			Protein kinase.		A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Missense_Mutation	SNP	ENST00000304987.3	37	c.436G>C	CCDS8347.1	.	.	.	.	.	.	.	.	.	.	G	34	5.309681	0.95629	.	.	ENSG00000170145	ENST00000304987	T	0.28255	1.62	5.77	5.77	0.91146	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.54271	0.1848	L	0.52823	1.66	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.52902	-0.8513	10	0.87932	D	0	.	19.6085	0.95589	0.0:0.0:1.0:0.0	.	146	Q9H0K1	SIK2_HUMAN	Q	146	ENSP00000305976:E146Q	ENSP00000305976:E146Q	E	+	1	0	SIK2	111064054	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.380000	0.97202	2.729000	0.93468	0.655000	0.94253	GAA		PASS	0.453	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319352.3	NM_015191		52	80	52	80	---	---	---	---
HTR3A	3359	broad.mit.edu	37	11	113856854	113856854	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr11:113856854T>C	ENST00000504030.2	+	6	1107	c.662T>C	c.(661-663)tTc>tCc	p.F221S	HTR3A_ENST00000375498.2_Missense_Mutation_p.F227S|HTR3A_ENST00000299961.5_Missense_Mutation_p.F206S|HTR3A_ENST00000506841.2_Missense_Mutation_p.F221S|HTR3A_ENST00000535865.1_Intron|HTR3A_ENST00000355556.2_Missense_Mutation_p.F227S			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	221					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)	p.F221S(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	TTTCGGGAGTTCAGCATGGAA	0.478																																						uc010rxb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(679-681)TTC>TCC		5-hydroxytryptamine (serotonin) receptor 3A	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						168.0	172.0	171.0					11																	113856854		2201	4296	6497	SO:0001583	missense	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113856854T>C	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.662T>C	11.37:g.113856854T>C	ENSP00000424189:p.Phe221Ser					HTR3A_uc010rxa.1_Missense_Mutation_p.F227S|HTR3A_uc009yyx.2_Intron|HTR3A_uc010rxc.1_Missense_Mutation_p.F206S	p.F227S	NM_213621	NP_998786	P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	6	913	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	221			Extracellular (Potential).		B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP	ENST00000504030.2	37	c.680T>C		.	.	.	.	.	.	.	.	.	.	T	15.68	2.905736	0.52333	.	.	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000299961	T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09	5.19	5.19	0.71726	.	0.051117	0.85682	D	0.000000	T	0.78991	0.4371	L	0.37561	1.115	0.80722	D	1	D;B;D	0.55605	0.972;0.178;0.972	P;B;P	0.56216	0.794;0.108;0.794	T	0.77321	-0.2631	10	0.31617	T	0.26	-36.6578	15.3465	0.74343	0.0:0.0:0.0:1.0	.	206;227;227	B4DSY6;G5E986;Q7KZM7	.;.;.	S	221;227;227;221;206	ENSP00000424189:F221S;ENSP00000347754:F227S;ENSP00000364648:F227S;ENSP00000424776:F221S;ENSP00000299961:F206S	ENSP00000299961:F206S	F	+	2	0	HTR3A	113362064	1.000000	0.71417	0.996000	0.52242	0.059000	0.15707	7.997000	0.88414	2.079000	0.62486	0.533000	0.62120	TTC		PASS	0.478	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		11	410	11	410	---	---	---	---
APOC3	345	broad.mit.edu	37	11	116701317	116701317	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr11:116701317C>G	ENST00000227667.3	+	2	81	c.19C>G	c.(19-21)Ctt>Gtt	p.L7V	APOC3_ENST00000470144.1_3'UTR|APOC3_ENST00000375345.1_Missense_Mutation_p.L25V	NM_000040.1	NP_000031.1	P02656	APOC3_HUMAN	apolipoprotein C-III	7					cellular response to glucose stimulus (GO:0071333)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle remodeling (GO:0034375)|inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of cholesterol import (GO:0060621)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of high-density lipoprotein particle clearance (GO:0010987)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of lipoprotein lipase activity (GO:0051005)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of triglyceride catabolic process (GO:0010897)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|negative regulation of very-low-density lipoprotein particle remodeling (GO:0010903)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	cholesterol binding (GO:0015485)|enzyme regulator activity (GO:0030234)|high-density lipoprotein particle receptor binding (GO:0070653)|lipase inhibitor activity (GO:0055102)|phospholipid binding (GO:0005543)	p.L7V(1)		endometrium(1)|lung(6)	7	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		CCGGGTACTCCTTGTTGTTGC	0.657																																					GBM(81;259 1650 7161 35190)	uc001ppt.1																			1	Substitution - Missense(1)		lung(1)		0						c.(19-21)CTT>GTT		apolipoprotein C-III precursor							83.0	72.0	76.0					11																	116701317		2201	4296	6497	SO:0001583	missense	345				Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol import|negative regulation of fatty acid biosynthetic process|negative regulation of high-density lipoprotein particle clearance|negative regulation of lipoprotein lipase activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor-mediated endocytosis|negative regulation of triglyceride catabolic process|negative regulation of very-low-density lipoprotein particle clearance|negative regulation of very-low-density lipoprotein particle remodeling|phospholipid efflux|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle assembly	chylomicron|intermediate-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	high-density lipoprotein particle receptor binding|lipase inhibitor activity|phospholipid binding	g.chr11:116701317C>G	X01388	CCDS8377.1	11q23.3	2013-01-24			ENSG00000110245	ENSG00000110245		"""Apolipoproteins"""	610	protein-coding gene	gene with protein product		107720					Standard	NM_000040		Approved		uc001ppt.1	P02656	OTTHUMG00000046115	ENST00000227667.3:c.19C>G	11.37:g.116701317C>G	ENSP00000227667:p.Leu7Val						p.L7V	NM_000040	NP_000031	P02656	APOC3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)	2	65	+	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)	7					Q08E83|Q6Q786	Missense_Mutation	SNP	ENST00000227667.3	37	c.19C>G	CCDS8377.1	.	.	.	.	.	.	.	.	.	.	C	7.486	0.649768	0.14516	.	.	ENSG00000110245	ENST00000433777;ENST00000227667;ENST00000375345	D;D;D	0.92545	-2.05;-3.0;-3.06	4.99	0.958	0.19619	.	0.000000	0.35349	N	0.003279	D	0.89602	0.6762	.	.	.	0.09310	N	1	D	0.55172	0.97	P	0.49332	0.607	T	0.82360	-0.0496	9	0.87932	D	0	-12.9182	3.8828	0.09085	0.1638:0.486:0.0:0.3502	.	7	P02656	APOC3_HUMAN	V	7;7;25	ENSP00000410614:L7V;ENSP00000227667:L7V;ENSP00000364494:L25V	ENSP00000227667:L7V	L	+	1	0	APOC3	116206527	0.000000	0.05858	0.046000	0.18839	0.129000	0.20672	-0.195000	0.09546	0.502000	0.28037	0.561000	0.74099	CTT		PASS	0.657	APOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106284.2	NM_000040		11	64	11	64	---	---	---	---
KMT2A	4297	broad.mit.edu	37	11	118376731	118376731	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr11:118376731C>G	ENST00000389506.5	+	27	10115	c.10115C>G	c.(10114-10116)aCc>aGc	p.T3372S	KMT2A_ENST00000534358.1_Missense_Mutation_p.T3375S|KMT2A_ENST00000354520.4_Missense_Mutation_p.T3334S			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3372					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.T3375S(1)|p.T3372S(1)									TTGCTTGGTACCCCAGATATT	0.483																																						uc001pta.2										T|O					MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB		AML|ALL		2	Substitution - Missense(2)		lung(2)	lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25						c.(10114-10116)ACC>AGC		myeloid/lymphoid or mixed-lineage leukemia							161.0	165.0	163.0					11																	118376731		2200	4295	6495	SO:0001583	missense	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118376731C>G	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.10115C>G	11.37:g.118376731C>G	ENSP00000374157:p.Thr3372Ser					MLL_uc001ptb.2_Missense_Mutation_p.T3375S	p.T3372S	NM_005933	NP_005924	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	27	10138	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	3372					E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.10115C>G	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.387006	0.25031	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.82526	-1.62;-1.62;-1.59	5.92	2.95	0.34219	.	0.290655	0.38326	N	0.001729	T	0.59945	0.2231	N	0.01874	-0.695	0.26293	N	0.978099	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.52283	-0.8596	10	0.38643	T	0.18	.	10.4001	0.44225	0.16:0.5881:0.2519:0.0	.	3375;3372	E9PQG7;Q03164	.;MLL1_HUMAN	S	3375;3372;3334;2282	ENSP00000436786:T3375S;ENSP00000374157:T3372S;ENSP00000346516:T3334S	ENSP00000346516:T3334S	T	+	2	0	MLL	117881941	0.363000	0.24989	0.694000	0.30210	0.938000	0.57974	2.318000	0.43779	0.355000	0.24131	0.467000	0.42956	ACC		PASS	0.483	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		42	470	42	470	---	---	---	---
TECTA	7007	broad.mit.edu	37	11	121028662	121028662	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr11:121028662G>A	ENST00000392793.1	+	14	4689	c.4418G>A	c.(4417-4419)cGc>cAc	p.R1473H	TECTA_ENST00000264037.2_Missense_Mutation_p.R1473H			O75443	TECTA_HUMAN	tectorin alpha	1473					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.R1473H(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TGTGCGCTGCGCAACGGGGTG	0.667																																						uc010rzo.1																			1	Substitution - Missense(1)		lung(1)	breast(6)|ovary(2)|skin(2)	10						c.(4417-4419)CGC>CAC		tectorin alpha precursor							41.0	39.0	40.0					11																	121028662		2203	4298	6501	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121028662G>A	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.4418G>A	11.37:g.121028662G>A	ENSP00000376543:p.Arg1473His						p.R1473H	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	13	4418	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	1473						Missense_Mutation	SNP	ENST00000392793.1	37	c.4418G>A	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.899543	0.91962	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.04809	3.55;3.55	5.55	4.58	0.56647	VWC out (1);	0.000000	0.85682	D	0.000000	T	0.14184	0.0343	L	0.46157	1.445	0.47441	D	0.999426	D	0.71674	0.998	D	0.63033	0.91	T	0.00409	-1.1757	10	0.56958	D	0.05	.	15.8546	0.78968	0.0:0.1358:0.8642:0.0	.	1473	O75443	TECTA_HUMAN	H	1473	ENSP00000376543:R1473H;ENSP00000264037:R1473H	ENSP00000264037:R1473H	R	+	2	0	TECTA	120533872	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	6.446000	0.73460	2.600000	0.87896	0.462000	0.41574	CGC		PASS	0.667	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		15	78	15	78	---	---	---	---
CLEC9A	283420	broad.mit.edu	37	12	10215734	10215734	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr12:10215734T>A	ENST00000355819.1	+	7	1013	c.400T>A	c.(400-402)Tgg>Agg	p.W134R		NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	134	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cytokine secretion (GO:0050715)|receptor-mediated endocytosis (GO:0006898)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.W134R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						TTGGAGCATTTGGCACACCAG	0.368																																						uc001qxa.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(400-402)TGG>AGG		C-type lectin domain family 9, member A							131.0	130.0	130.0					12																	10215734		2203	4300	6503	SO:0001583	missense	283420				positive regulation of cytokine secretion|receptor-mediated endocytosis	cell surface|integral to membrane	receptor activity|sugar binding	g.chr12:10215734T>A		CCDS8611.1	12p13.31	2010-04-27				ENSG00000197992		"""C-type lectin domain containing"""	26705	protein-coding gene	gene with protein product		612252					Standard	NM_207345		Approved	UNQ9341, HEEE9341	uc001qxa.3	Q6UXN8		ENST00000355819.1:c.400T>A	12.37:g.10215734T>A	ENSP00000348074:p.Trp134Arg						p.W134R	NM_207345	NP_997228	Q6UXN8	CLC9A_HUMAN			7	1013	+			134			Extracellular (Potential).|C-type lectin.		B0ZBM2	Missense_Mutation	SNP	ENST00000355819.1	37	c.400T>A	CCDS8611.1	.	.	.	.	.	.	.	.	.	.	T	16.63	3.177690	0.57692	.	.	ENSG00000197992	ENST00000355819	T	0.28069	1.63	4.52	4.52	0.55395	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.41097	D	0.000959	T	0.66577	0.2803	H	0.96633	3.855	0.42043	D	0.991082	D	0.89917	1.0	D	0.91635	0.999	T	0.76974	-0.2760	10	0.87932	D	0	.	10.804	0.46507	0.0:0.0:0.0:1.0	.	134	Q6UXN8	CLC9A_HUMAN	R	134	ENSP00000348074:W134R	ENSP00000348074:W134R	W	+	1	0	CLEC9A	10107001	0.994000	0.37717	0.428000	0.26697	0.009000	0.06853	3.632000	0.54287	1.974000	0.57490	0.482000	0.46254	TGG		PASS	0.368	CLEC9A-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000399564.1	NM_207345		23	233	23	233	---	---	---	---
PRB4	5545	broad.mit.edu	37	12	11461259	11461259	+	Missense_Mutation	SNP	G	G	T	rs574597591		TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr12:11461259G>T	ENST00000535904.1	-	3	691	c.658C>A	c.(658-660)Cct>Act	p.P220T	PRB4_ENST00000445719.2_Missense_Mutation_p.P151T|PRB4_ENST00000279575.1_Missense_Mutation_p.P220T			P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	0	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region (GO:0005576)		p.P220T(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						TTTCCAGCAGGAGGTGCCTGA	0.632										HNSCC(22;0.051)																												uc001qzf.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(658-660)CCT>ACT		proline-rich protein BstNI subfamily 4							97.0	109.0	105.0					12																	11461259		2203	4300	6503	SO:0001583	missense	5545					extracellular region		g.chr12:11461259G>T		CCDS8641.1, CCDS58208.1	12p13.2	2012-10-02			ENSG00000230657	ENSG00000230657			9340	protein-coding gene	gene with protein product		180990					Standard	NM_002723		Approved		uc001qzt.4	P10163	OTTHUMG00000169116	ENST00000535904.1:c.658C>A	12.37:g.11461259G>T	ENSP00000442834:p.Pro220Thr	HNSCC(22;0.051)				PRB4_uc001qzt.2_Missense_Mutation_p.P220T	p.P220T	NM_002723	NP_002714	P10163	PRB4_HUMAN			3	692	-			283					A1L439|O00600|P02813|P10161|P10162|P81489	Missense_Mutation	SNP	ENST00000535904.1	37	c.658C>A	CCDS8641.1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.891206	0.00527	.	.	ENSG00000230657	ENST00000279575;ENST00000535904;ENST00000445719	T;T;T	0.05382	3.45;3.45;3.45	1.11	0.0646	0.14354	.	.	.	.	.	T	0.12646	0.0307	M	0.72118	2.19	0.09310	N	1	D	0.65815	0.995	P	0.54889	0.763	T	0.17776	-1.0358	9	0.31617	T	0.26	.	4.8312	0.13441	0.0:0.3984:0.6016:0.0	.	220	E9PAL0	.	T	220;220;151	ENSP00000279575:P220T;ENSP00000442834:P220T;ENSP00000412740:P151T	ENSP00000279575:P220T	P	-	1	0	PRB4	11352526	0.013000	0.17824	0.001000	0.08648	0.011000	0.07611	-0.377000	0.07456	0.002000	0.14630	0.400000	0.26472	CCT		PASS	0.632	PRB4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402308.1	NM_002723		82	201	82	201	---	---	---	---
PRB4	5545	broad.mit.edu	37	12	11461447	11461447	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr12:11461447G>A	ENST00000535904.1	-	3	503	c.470C>T	c.(469-471)cCt>cTt	p.P157L	PRB4_ENST00000445719.2_Intron|PRB4_ENST00000279575.1_Missense_Mutation_p.P157L			P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	178	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.			Missing (in Ref. 7; CAA30542). {ECO:0000305}.		extracellular region (GO:0005576)		p.P157L(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						TCCTGGATGAGGTGGGGGACC	0.602										HNSCC(22;0.051)																												uc001qzf.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(469-471)CCT>CTT		proline-rich protein BstNI subfamily 4							195.0	214.0	208.0					12																	11461447		2203	4300	6503	SO:0001583	missense	5545					extracellular region		g.chr12:11461447G>A		CCDS8641.1, CCDS58208.1	12p13.2	2012-10-02			ENSG00000230657	ENSG00000230657			9340	protein-coding gene	gene with protein product		180990					Standard	NM_002723		Approved		uc001qzt.4	P10163	OTTHUMG00000169116	ENST00000535904.1:c.470C>T	12.37:g.11461447G>A	ENSP00000442834:p.Pro157Leu	HNSCC(22;0.051)				PRB4_uc001qzt.2_Missense_Mutation_p.P157L	p.P157L	NM_002723	NP_002714	P10163	PRB4_HUMAN			3	504	-			220			9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.|9.		A1L439|O00600|P02813|P10161|P10162|P81489	Missense_Mutation	SNP	ENST00000535904.1	37	c.470C>T	CCDS8641.1	.	.	.	.	.	.	.	.	.	.	.	6.695	0.496867	0.12762	.	.	ENSG00000230657	ENST00000279575;ENST00000535904	T;T	0.18502	2.21;2.21	1.24	-0.898	0.10550	.	.	.	.	.	T	0.13884	0.0336	M	0.76170	2.325	0.09310	N	1	P	0.36412	0.552	B	0.24701	0.055	T	0.21552	-1.0242	9	0.87932	D	0	.	1.8344	0.03137	0.2325:0.0:0.4438:0.3236	.	157	E9PAL0	.	L	157	ENSP00000279575:P157L;ENSP00000442834:P157L	ENSP00000279575:P157L	P	-	2	0	PRB4	11352714	0.041000	0.20044	0.000000	0.03702	0.001000	0.01503	0.774000	0.26675	-0.336000	0.08438	-0.441000	0.05720	CCT		PASS	0.602	PRB4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402308.1	NM_002723		167	501	167	501	---	---	---	---
SLCO1C1	53919	broad.mit.edu	37	12	20893186	20893186	+	Silent	SNP	A	A	G			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr12:20893186A>G	ENST00000266509.2	+	12	1985	c.1617A>G	c.(1615-1617)ggA>ggG	p.G539G	SLCO1C1_ENST00000381552.1_Silent_p.G539G|SLCO1C1_ENST00000545604.1_Silent_p.G539G|SLCO1C1_ENST00000540354.1_Silent_p.G490G|SLCO1C1_ENST00000545102.1_Silent_p.G421G	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	539					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.G539G(2)		NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	GCATAGTGGGAAGATGTCAGA	0.393																																						uc001rej.3																			2	Substitution - coding silent(2)		lung(2)	ovary(5)|pancreas(1)|skin(1)	7						c.(1615-1617)GGA>GGG		solute carrier organic anion transporter family,							187.0	179.0	182.0					12																	20893186		2203	4300	6503	SO:0001819	synonymous_variant	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20893186A>G	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.1617A>G	12.37:g.20893186A>G						SLCO1C1_uc010sii.1_Silent_p.G539G|SLCO1C1_uc010sij.1_Silent_p.G490G|SLCO1C1_uc009zip.2_Silent_p.G373G|SLCO1C1_uc001rei.2_Silent_p.G539G|SLCO1C1_uc010sik.1_Silent_p.G421G	p.G539G	NM_017435	NP_059131	Q9NYB5	SO1C1_HUMAN			13	1972	+	Esophageal squamous(101;0.149)		539			Extracellular (Potential).		B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Silent	SNP	ENST00000266509.2	37	c.1617A>G	CCDS8683.1																																																																																				PASS	0.393	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		72	186	72	186	---	---	---	---
TM7SF3	51768	broad.mit.edu	37	12	27143425	27143425	+	Missense_Mutation	SNP	C	C	T	rs186054450	byFrequency	TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr12:27143425C>T	ENST00000343028.4	-	6	1051	c.826G>A	c.(826-828)Gct>Act	p.A276T	TM7SF3_ENST00000542667.1_Intron	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	276						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A276T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					AAGCTGCAAGCGTATGTGTGA	0.458													C|||	2	0.000399361	0.0	0.0029	5008	,	,		20196	0.0		0.0	False		,,,				2504	0.0					uc010sjl.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)	2						c.(826-828)GCT>ACT		transmembrane 7 superfamily member 3 precursor		C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	129.0	114.0	119.0		826	4.1	0.3	12		119	0,8600		0,0,4300	yes	missense	TM7SF3	NM_016551.2	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	276/571	27143425	1,13005	2203	4300	6503	SO:0001583	missense	51768					integral to membrane|plasma membrane		g.chr12:27143425C>T	AB032470	CCDS8710.1	12q11-q12	2012-08-10			ENSG00000064115	ENSG00000064115			23049	protein-coding gene	gene with protein product		605181				10828615	Standard	NM_016551		Approved		uc010sjl.2	Q9NS93	OTTHUMG00000169243	ENST00000343028.4:c.826G>A	12.37:g.27143425C>T	ENSP00000342322:p.Ala276Thr						p.A276T	NM_016551	NP_057635	Q9NS93	TM7S3_HUMAN			6	1064	-	Colorectal(261;0.0847)		276					B3KMZ3|Q9NUS4	Missense_Mutation	SNP	ENST00000343028.4	37	c.826G>A	CCDS8710.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	C	21.5	4.152920	0.78001	2.27E-4	0.0	ENSG00000064115	ENST00000343028;ENST00000545344;ENST00000543655;ENST00000535819	T;T;T	0.54279	0.98;0.58;0.58	5.0	4.11	0.48088	.	0.000000	0.85682	D	0.000000	T	0.64450	0.2599	M	0.77103	2.36	0.58432	D	0.999998	D	0.89917	1.0	D	0.71656	0.974	T	0.73338	-0.4014	10	0.72032	D	0.01	-11.7543	13.7414	0.62849	0.0:0.9249:0.0:0.0751	.	276	Q9NS93	TM7S3_HUMAN	T	276;19;67;67	ENSP00000342322:A276T;ENSP00000441924:A67T;ENSP00000445156:A67T	ENSP00000342322:A276T	A	-	1	0	TM7SF3	27034692	0.996000	0.38824	0.288000	0.24862	0.692000	0.40212	3.438000	0.52871	1.242000	0.43836	0.585000	0.79938	GCT		PASS	0.458	TM7SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403033.1	NM_016551		50	116	50	116	---	---	---	---
KANSL2	54934	broad.mit.edu	37	12	49075195	49075195	+	Missense_Mutation	SNP	T	T	C	rs554290180		TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr12:49075195T>C	ENST00000420613.2	-	2	268	c.221A>G	c.(220-222)aAt>aGt	p.N74S	KANSL2_ENST00000357861.3_5'UTR|KANSL2_ENST00000550347.1_Missense_Mutation_p.N257S|KANSL2_ENST00000553086.1_Missense_Mutation_p.N74S	NM_017822.3	NP_060292.3	Q9H9L4	KANL2_HUMAN	KAT8 regulatory NSL complex subunit 2	74					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)		p.N74S(2)									TGGGGCAGCATTGGGACATCT	0.418													T|||	1	0.000199681	0.0	0.0	5008	,	,		18448	0.0		0.0	False		,,,				2504	0.001					uc001rrx.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(220-222)AAT>AGT		hypothetical protein LOC54934							148.0	138.0	142.0					12																	49075195		1870	4107	5977	SO:0001583	missense	54934							g.chr12:49075195T>C	AK094528	CCDS44869.1	12q13.11	2011-10-31	2011-10-31	2011-10-31	ENSG00000139620	ENSG00000139620			26024	protein-coding gene	gene with protein product		615488	"""chromosome 12 open reading frame 41"""	C12orf41		12477932	Standard	NM_017822		Approved	FLJ20436, NSL2	uc001rrz.2	Q9H9L4	OTTHUMG00000170392	ENST00000420613.2:c.221A>G	12.37:g.49075195T>C	ENSP00000415436:p.Asn74Ser					C12orf41_uc001rrw.2_5'Flank|C12orf41_uc001rrz.2_Missense_Mutation_p.N257S|C12orf41_uc001rry.2_RNA	p.N74S	NM_017822	NP_060292	Q9H9L4	CL041_HUMAN			2	296	-			74					Q8N3B5|Q96CV0|Q9NX51	Missense_Mutation	SNP	ENST00000420613.2	37	c.221A>G	CCDS44869.1	.	.	.	.	.	.	.	.	.	.	T	12.04	1.820109	0.32145	.	.	ENSG00000139620	ENST00000550347;ENST00000420613;ENST00000553086;ENST00000550870	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.59	-3.34	0.04943	.	.	.	.	.	T	0.37376	0.1001	M	0.76727	2.345	0.80722	D	1	B;B	0.30281	0.275;0.0	B;B	0.33454	0.164;0.004	T	0.19712	-1.0297	9	0.31617	T	0.26	-35.0979	7.0871	0.25264	0.0:0.3308:0.1209:0.5483	.	257;74	F8VX10;Q9H9L4	.;CL041_HUMAN	S	257;74;74;74	ENSP00000449747:N257S;ENSP00000415436:N74S;ENSP00000448833:N74S;ENSP00000448473:N74S	ENSP00000415436:N74S	N	-	2	0	C12orf41	47361462	1.000000	0.71417	0.976000	0.42696	0.949000	0.60115	0.629000	0.24538	-0.474000	0.06862	-1.451000	0.01035	AAT		PASS	0.418	KANSL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408841.1	NM_017822		27	74	27	74	---	---	---	---
KRT8	3856	broad.mit.edu	37	12	53298547	53298547	+	Silent	SNP	C	C	T			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr12:53298547C>T	ENST00000552551.1	-	2	651	c.219G>A	c.(217-219)ctG>ctA	p.L73L	KRT8_ENST00000552150.1_Silent_p.L101L|KRT8_ENST00000546897.1_Silent_p.L73L|KRT8_ENST00000293308.6_Silent_p.L73L			P05787	K2C8_HUMAN	keratin 8	73	Head.				cell differentiation involved in embryonic placenta development (GO:0060706)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatocyte apoptotic process (GO:0097284)|response to hydrostatic pressure (GO:0051599)|response to other organism (GO:0051707)|sarcomere organization (GO:0045214)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)	p.L73L(1)		endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Tenecteplase(DB00031)	CAAGGGGGCTCAGCAGGCTCT	0.627																																						uc001sbd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(217-219)CTG>CTA		keratin 8	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						42.0	45.0	44.0					12																	53298547		2202	4298	6500	SO:0001819	synonymous_variant	3856				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity	g.chr12:53298547C>T	BC000654	CCDS8841.1, CCDS58234.1	12q13.13	2013-01-16			ENSG00000170421	ENSG00000170421		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6446	protein-coding gene	gene with protein product		148060				2434381, 1705144, 16831889	Standard	NM_002273		Approved	CARD2, K8, CK8, CYK8, K2C8, KO	uc009zmk.1	P05787	OTTHUMG00000169881	ENST00000552551.1:c.219G>A	12.37:g.53298547C>T						KRT8_uc009zmj.2_Silent_p.L73L|KRT8_uc009zmk.1_Silent_p.L101L|KRT8_uc009zml.1_Silent_p.L73L|KRT8_uc009zmm.1_Silent_p.L73L	p.L73L	NM_002273	NP_002264	P05787	K2C8_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.108)	1	322	-			73			Head.		A8K4H3|B0AZN5|F8VXB4|Q14099|Q14716|Q14717|Q53GJ0|Q6DHW5|Q6GMY0|Q6P4C7|Q96J60	Silent	SNP	ENST00000552551.1	37	c.219G>A	CCDS8841.1																																																																																				PASS	0.627	KRT8-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406385.1	NM_002273		10	91	10	91	---	---	---	---
EIF4B	1975	broad.mit.edu	37	12	53431196	53431196	+	Missense_Mutation	SNP	C	C	T	rs367932879		TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr12:53431196C>T	ENST00000262056.9	+	11	1636	c.1310C>T	c.(1309-1311)gCa>gTa	p.A437V	RP11-983P16.4_ENST00000546566.1_RNA|RP11-983P16.4_ENST00000552905.1_RNA|RP11-983P16.4_ENST00000550601.1_RNA|EIF4B_ENST00000420463.3_Missense_Mutation_p.A442V|EIF4B_ENST00000416762.3_Missense_Mutation_p.A398V	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	437					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation initiation factor activity (GO:0003743)	p.A437V(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						TTCACAGATGCACGAAGGAGA	0.448																																						uc001sbh.3																			1	Substitution - Missense(1)		lung(1)	breast(1)|kidney(1)	2						c.(1309-1311)GCA>GTA		eukaryotic translation initiation factor 4B		C	VAL/ALA	0,3756		0,0,1878	19.0	20.0	20.0		1310	4.3	1.0	12		20	1,8225		0,1,4112	no	missense	EIF4B	NM_001417.4	64	0,1,5990	TT,TC,CC		0.0122,0.0,0.0083	possibly-damaging	437/612	53431196	1,11981	1878	4113	5991	SO:0001583	missense	1975				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity	g.chr12:53431196C>T	X55733	CCDS41788.1, CCDS73474.1	12q13.13	2013-02-12			ENSG00000063046	ENSG00000063046		"""RNA binding motif (RRM) containing"""	3285	protein-coding gene	gene with protein product		603928					Standard	XM_005268709		Approved		uc001sbh.4	P23588	OTTHUMG00000169570	ENST00000262056.9:c.1310C>T	12.37:g.53431196C>T	ENSP00000262056:p.Ala437Val					EIF4B_uc010snu.1_Missense_Mutation_p.A442V|EIF4B_uc010snv.1_Missense_Mutation_p.A398V|EIF4B_uc001sbi.2_Missense_Mutation_p.A189V	p.A437V	NM_001417	NP_001408	P23588	IF4B_HUMAN			11	1516	+			437					Q4G0E3|Q53HQ2|Q6GPH5|Q6IB46|Q8WYK5	Missense_Mutation	SNP	ENST00000262056.9	37	c.1310C>T	CCDS41788.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.599773	0.66332	0.0	1.22E-4	ENSG00000063046	ENST00000262056;ENST00000420463;ENST00000430205;ENST00000416762	T;T;T	0.47177	0.85;0.85;0.85	5.2	4.31	0.51392	.	0.536026	0.20093	N	0.099401	T	0.37100	0.0991	N	0.22421	0.69	0.30343	N	0.785511	P;D;B;P	0.53151	0.949;0.958;0.236;0.915	P;B;B;B	0.45753	0.492;0.444;0.05;0.366	T	0.26916	-1.0089	10	0.31617	T	0.26	.	12.185	0.54234	0.0:0.915:0.0:0.085	.	398;442;413;437	B4DS13;E7EX17;E7EPC9;P23588	.;.;.;IF4B_HUMAN	V	437;442;413;398	ENSP00000262056:A437V;ENSP00000388806:A442V;ENSP00000412530:A398V	ENSP00000262056:A437V	A	+	2	0	EIF4B	51717463	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	4.034000	0.57289	1.521000	0.48983	-0.225000	0.12378	GCA		PASS	0.448	EIF4B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404852.2	NM_001417		7	33	7	33	---	---	---	---
HOXC10	3226	broad.mit.edu	37	12	54379069	54379069	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr12:54379069C>T	ENST00000303460.4	+	1	100	c.26C>T	c.(25-27)cCg>cTg	p.P9L	HOXC-AS3_ENST00000513165.1_RNA|HOXC-AS3_ENST00000509870.1_RNA|HOXC-AS3_ENST00000514702.1_RNA|HOXC-AS3_ENST00000567780.1_RNA|RP11-834C11.12_ENST00000513209.1_5'Flank	NM_017409.3	NP_059105.2	Q9NYD6	HXC10_HUMAN	homeobox C10	9					anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|neuromuscular process (GO:0050905)|positive regulation of cell proliferation (GO:0008284)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.P9L(1)		endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						AATGTAACTCCGAACTCGTAC	0.552																																						uc001sen.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(25-27)CCG>CTG		homeobox C10							85.0	101.0	96.0					12																	54379069		2203	4300	6503	SO:0001583	missense	3226				positive regulation of cell proliferation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54379069C>T		CCDS8868.1	12q13.13	2011-06-20	2005-12-22		ENSG00000180818	ENSG00000180818		"""Homeoboxes / ANTP class : HOXL subclass"""	5122	protein-coding gene	gene with protein product		605560	"""homeo box C10"""	HOX3I		1358459	Standard	NM_017409		Approved		uc001sen.3	Q9NYD6	OTTHUMG00000160031	ENST00000303460.4:c.26C>T	12.37:g.54379069C>T	ENSP00000307321:p.Pro9Leu						p.P9L	NM_017409	NP_059105	Q9NYD6	HXC10_HUMAN			1	124	+			9					O15219|O15220|Q9BVD5	Missense_Mutation	SNP	ENST00000303460.4	37	c.26C>T	CCDS8868.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.619813	0.46736	.	.	ENSG00000180818	ENST00000303460	D	0.92249	-3.0	4.18	4.18	0.49190	.	0.195695	0.44097	D	0.000484	D	0.88232	0.6381	L	0.48642	1.525	0.54753	D	0.999989	B	0.31503	0.326	B	0.19946	0.027	D	0.88668	0.3193	10	0.66056	D	0.02	.	15.8595	0.79012	0.0:1.0:0.0:0.0	.	9	Q9NYD6	HXC10_HUMAN	L	9	ENSP00000307321:P9L	ENSP00000307321:P9L	P	+	2	0	HOXC10	52665336	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.013000	0.76373	2.364000	0.80123	0.549000	0.68633	CCG		PASS	0.552	HOXC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358952.2			41	209	41	209	---	---	---	---
SMARCC2	6601	broad.mit.edu	37	12	56563645	56563645	+	Silent	SNP	G	G	C			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr12:56563645G>C	ENST00000267064.4	-	23	2456	c.2370C>G	c.(2368-2370)acC>acG	p.T790T	SMARCC2_ENST00000394023.3_Silent_p.T821T|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Silent_p.T821T|SMARCC2_ENST00000550164.1_Silent_p.T821T	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	790	Glu-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.T790T(2)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GAGCCTCGCTGGTTTTCTCTT	0.498																																						uc001skb.2																			2	Substitution - coding silent(2)		lung(2)	lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6						c.(2368-2370)ACC>ACG		SWI/SNF-related matrix-associated							125.0	121.0	123.0					12																	56563645		2203	4300	6503	SO:0001819	synonymous_variant	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56563645G>C	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.2370C>G	12.37:g.56563645G>C						SMARCC2_uc001skd.2_Silent_p.T821T|SMARCC2_uc001ska.2_Silent_p.T821T|SMARCC2_uc001skc.2_Silent_p.T820T|SMARCC2_uc010sqf.1_Silent_p.T710T	p.T790T	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		23	2476	-			790			Glu-rich.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Silent	SNP	ENST00000267064.4	37	c.2370C>G	CCDS8907.1																																																																																				PASS	0.498	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			47	130	47	130	---	---	---	---
MYF5	4617	broad.mit.edu	37	12	81111152	81111152	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr12:81111152G>A	ENST00000228644.3	+	1	462	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	104	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)	p.E104K(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CCAGGCTTTCGAAACCCTCAA	0.597																																						uc001szg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(310-312)GAA>AAA		myogenic factor 5							66.0	61.0	63.0					12																	81111152		2203	4300	6503	SO:0001583	missense	4617				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr12:81111152G>A		CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"""Basic helix-loop-helix proteins"""	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.310G>A	12.37:g.81111152G>A	ENSP00000228644:p.Glu104Lys						p.E104K	NM_005593	NP_005584	P13349	MYF5_HUMAN			1	445	+			104			Helix-loop-helix motif.		Q6ISR9	Missense_Mutation	SNP	ENST00000228644.3	37	c.310G>A	CCDS9020.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.845125	0.91197	.	.	ENSG00000111049	ENST00000228644	D	0.98120	-4.73	6.06	6.06	0.98353	Helix-loop-helix DNA-binding (5);	0.094659	0.64402	D	0.000001	D	0.97167	0.9074	M	0.73430	2.235	0.80722	D	1	P	0.41131	0.739	B	0.38378	0.272	D	0.97383	0.9984	10	0.87932	D	0	-13.1241	20.6208	0.99490	0.0:0.0:1.0:0.0	.	104	P13349	MYF5_HUMAN	K	104	ENSP00000228644:E104K	ENSP00000228644:E104K	E	+	1	0	MYF5	79635283	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.476000	0.97823	2.882000	0.98803	0.655000	0.94253	GAA		PASS	0.597	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1	NM_005593		8	107	8	107	---	---	---	---
PPFIA2	8499	broad.mit.edu	37	12	81688753	81688753	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr12:81688753G>A	ENST00000549396.1	-	24	2946	c.2786C>T	c.(2785-2787)gCc>gTc	p.A929V	PPFIA2_ENST00000552948.1_Missense_Mutation_p.A929V|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000541570.2_Missense_Mutation_p.A496V|PPFIA2_ENST00000443686.3_Missense_Mutation_p.A830V|PPFIA2_ENST00000407050.4_Missense_Mutation_p.A855V|PPFIA2_ENST00000549325.1_Missense_Mutation_p.A914V|PPFIA2_ENST00000550359.2_Missense_Mutation_p.A776V|PPFIA2_ENST00000333447.7_Missense_Mutation_p.A914V|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000550584.2_Missense_Mutation_p.A929V|PPFIA2_ENST00000548586.1_Missense_Mutation_p.A929V|PPFIA2_ENST00000541017.1_Missense_Mutation_p.A146V	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	929	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)		p.A929V(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						AGACATGATGGCACCACTCTT	0.438																																						uc001szo.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|pancreas(1)	6						c.(2785-2787)GCC>GTC		PTPRF interacting protein alpha 2							92.0	92.0	92.0					12																	81688753		2109	4270	6379	SO:0001583	missense	8499							g.chr12:81688753G>A	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.2786C>T	12.37:g.81688753G>A	ENSP00000450337:p.Ala929Val					PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA	p.A929V	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN			24	2947	-			855					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	c.2786C>T	CCDS55857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.404726|5.404726	0.96051|0.96051	.|.	.|.	ENSG00000139220|ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000541017;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948|ENST00000550018	T;T;T;T;T;T;T;T;T|.	0.50277|.	0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75|.	5.62|5.62	4.73|4.73	0.59995|0.59995	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);|.	0.056862|.	0.64402|.	N|.	0.000001|.	T|T	0.67804|0.67804	0.2932|0.2932	L|L	0.55481|0.55481	1.735|1.735	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.72075|.	0.976|.	T|T	0.66248|0.66248	-0.5971|-0.5971	10|5	0.66056|.	D|.	0.02|.	-8.8849|-8.8849	14.5168|14.5168	0.67824|0.67824	0.0704:0.0:0.9296:0.0|0.0704:0.0:0.9296:0.0	.|.	929|.	O75334|.	LIPA2_HUMAN|.	V|S	929;914;496;146;855;940;914;929;830;929|63	ENSP00000450337:A929V;ENSP00000450298:A914V;ENSP00000438337:A496V;ENSP00000445532:A146V;ENSP00000385093:A855V;ENSP00000327416:A914V;ENSP00000449338:A929V;ENSP00000388373:A830V;ENSP00000447868:A929V|.	ENSP00000327416:A914V|.	A|P	-|-	2|1	0|0	PPFIA2|PPFIA2	80212884|80212884	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.869000|9.869000	0.99810|0.99810	1.389000|1.389000	0.46526|0.46526	0.655000|0.655000	0.94253|0.94253	GCC|CCA		PASS	0.438	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			15	26	15	26	---	---	---	---
ANKS1B	56899	broad.mit.edu	37	12	99145241	99145241	+	Silent	SNP	T	T	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr12:99145241T>A	ENST00000547776.2	-	25	3563	c.3564A>T	c.(3562-3564)ctA>ctT	p.L1188L	ANKS1B_ENST00000549493.2_Silent_p.L438L|ANKS1B_ENST00000549025.2_Silent_p.L286L|ANKS1B_ENST00000550693.2_Silent_p.L378L|ANKS1B_ENST00000546568.1_Silent_p.L354L|ANKS1B_ENST00000333732.7_Silent_p.L218L|ANKS1B_ENST00000547010.1_Silent_p.L704L|ANKS1B_ENST00000329257.7_Silent_p.L1188L|ANKS1B_ENST00000341752.7_Silent_p.L194L|ANKS1B_ENST00000547446.1_Silent_p.L323L|ANKS1B_ENST00000546960.1_Silent_p.L414L|ANKS1B_ENST00000549558.2_Silent_p.L354L|ANKS1B_ENST00000332712.7_Silent_p.L378L	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	1188	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.					cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)	p.L438L(1)|p.L1188L(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CTTGTAGTGCTAGCTGGTAAG	0.483																																						uc001tge.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(3562-3564)CTA>CTT		cajalin 2 isoform a							176.0	176.0	176.0					12																	99145241		1901	4109	6010	SO:0001819	synonymous_variant	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:99145241T>A	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.3564A>T	12.37:g.99145241T>A						ANKS1B_uc001tgf.1_Silent_p.L704L|ANKS1B_uc001tgk.2_Silent_p.L485L|ANKS1B_uc010svd.1_Silent_p.L194L|ANKS1B_uc001tgd.1_Silent_p.L354L|ANKS1B_uc009ztq.2_Silent_p.L90L|ANKS1B_uc010sve.1_Silent_p.L218L|ANKS1B_uc001tgh.3_Silent_p.L194L|ANKS1B_uc001tgi.2_Silent_p.L438L|ANKS1B_uc009ztr.2_Silent_p.L378L|ANKS1B_uc001tgj.2_Silent_p.L354L|ANKS1B_uc009ztp.2_Silent_p.L219L|ANKS1B_uc010svf.1_Silent_p.L218L|ANKS1B_uc001tgg.3_Silent_p.L286L|ANKS1B_uc010svg.1_Silent_p.L323L|ANKS1B_uc009zts.1_Silent_p.L414L	p.L1188L	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	25	3981	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	1188			PID.		A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Silent	SNP	ENST00000547776.2	37	c.3564A>T	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	T	10.97	1.501872	0.26949	.	.	ENSG00000185046	ENST00000550778	.	.	.	5.08	-4.56	0.03431	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.7006	2.4686	0.04559	0.2933:0.0768:0.3754:0.2545	.	.	.	.	L	460	.	.	X	-	2	0	ANKS1B	97669372	0.011000	0.17503	0.852000	0.33557	0.997000	0.91878	-0.969000	0.03813	-0.548000	0.06199	0.459000	0.35465	TAG		PASS	0.483	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		61	179	61	179	---	---	---	---
STAB2	55576	broad.mit.edu	37	12	104077060	104077060	+	Silent	SNP	C	C	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr12:104077060C>A	ENST00000388887.2	+	26	3087	c.2883C>A	c.(2881-2883)acC>acA	p.T961T		NM_017564.9	NP_060034.9			stabilin 2									p.T961T(2)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TGGAACAAACCGGGAAATGTC	0.333																																						uc001tjw.2																			2	Substitution - coding silent(2)		lung(2)	ovary(9)|skin(5)	14						c.(2881-2883)ACC>ACA		stabilin 2 precursor							171.0	156.0	161.0					12																	104077060		2203	4300	6503	SO:0001819	synonymous_variant	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104077060C>A	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.2883C>A	12.37:g.104077060C>A							p.T961T	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			26	3069	+			961			Extracellular (Potential).|EGF-like 10.			Silent	SNP	ENST00000388887.2	37	c.2883C>A	CCDS31888.1																																																																																				PASS	0.333	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			31	108	31	108	---	---	---	---
WSCD2	9671	broad.mit.edu	37	12	108642091	108642091	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr12:108642091G>C	ENST00000332082.4	+	10	2487	c.1669G>C	c.(1669-1671)Ggt>Cgt	p.G557R	WSCD2_ENST00000261400.3_Missense_Mutation_p.G577R|WSCD2_ENST00000549903.1_Missense_Mutation_p.G577R|WSCD2_ENST00000547525.1_Missense_Mutation_p.G557R			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	557						integral component of membrane (GO:0016021)		p.G557R(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GAACCTAACGGGTGTCCCCGA	0.587																																						uc001tms.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|large_intestine(1)|breast(1)	3						c.(1669-1671)GGT>CGT		WSC domain containing 2							50.0	53.0	52.0					12																	108642091		2023	4195	6218	SO:0001583	missense	9671					integral to membrane		g.chr12:108642091G>C		CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.1669G>C	12.37:g.108642091G>C	ENSP00000331933:p.Gly557Arg					WSCD2_uc001tmt.2_Missense_Mutation_p.G557R|WSCD2_uc001tmu.2_Missense_Mutation_p.G325R	p.G557R	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN			9	2413	+			557					B2RN48|B4DES1|Q8IY35|Q9Y4B7	Missense_Mutation	SNP	ENST00000332082.4	37	c.1669G>C	CCDS41828.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.048578	0.75846	.	.	ENSG00000075035	ENST00000547525;ENST00000261400;ENST00000332082;ENST00000549903	T;T;T;T	0.32753	1.45;1.44;1.45;1.44	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.53045	0.1772	M	0.64567	1.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.54186	-0.8331	10	0.48119	T	0.1	-35.8755	16.4527	0.83997	0.0:0.0:1.0:0.0	.	577;557	Q2TBF2-2;Q2TBF2	.;WSCD2_HUMAN	R	557;577;557;577	ENSP00000448047:G557R;ENSP00000261400:G577R;ENSP00000331933:G557R;ENSP00000447272:G577R	ENSP00000261400:G577R	G	+	1	0	WSCD2	107166221	1.000000	0.71417	0.988000	0.46212	0.752000	0.42762	6.395000	0.73228	2.126000	0.65437	0.655000	0.94253	GGT		PASS	0.587	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	NM_014653		20	51	20	51	---	---	---	---
TMEM132B	114795	broad.mit.edu	37	12	126128791	126128791	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr12:126128791T>C	ENST00000299308.3	+	6	1600	c.1592T>C	c.(1591-1593)aTc>aCc	p.I531T	TMEM132B_ENST00000535886.1_Missense_Mutation_p.I43T	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	531						integral component of membrane (GO:0016021)		p.I531T(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CTGAGCCAGATCAAGGGCTGG	0.567																																						uc001uhe.1																			1	Substitution - Missense(1)		lung(1)	skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19						c.(1591-1593)ATC>ACC		transmembrane protein 132B							53.0	56.0	56.0					12																	126128791		1952	4151	6103	SO:0001583	missense	114795					integral to membrane		g.chr12:126128791T>C	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.1592T>C	12.37:g.126128791T>C	ENSP00000299308:p.Ile531Thr					TMEM132B_uc001uhf.1_Missense_Mutation_p.I43T	p.I531T	NM_052907	NP_443139	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	6	1600	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		531			Extracellular (Potential).		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.1592T>C	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	T	17.13	3.311558	0.60414	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.17370	2.28;2.28	5.52	5.52	0.82312	.	0.071177	0.56097	D	0.000028	T	0.35451	0.0932	M	0.76574	2.34	0.80722	D	1	D	0.56746	0.977	P	0.53593	0.73	T	0.20438	-1.0275	10	0.87932	D	0	.	15.6347	0.76944	0.0:0.0:0.0:1.0	.	531	Q14DG7	T132B_HUMAN	T	531;43	ENSP00000299308:I531T;ENSP00000440436:I43T	ENSP00000299308:I531T	I	+	2	0	TMEM132B	124694744	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	7.708000	0.84633	2.084000	0.62774	0.533000	0.62120	ATC		PASS	0.567	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		20	60	20	60	---	---	---	---
PIWIL1	9271	broad.mit.edu	37	12	130840130	130840130	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr12:130840130G>A	ENST00000245255.3	+	12	1594	c.1322G>A	c.(1321-1323)tGg>tAg	p.W441*		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	441					gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)	p.W441*(1)		breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		CTTCGAGACTGGGGTTTGAGC	0.388																																						uc001uik.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(1321-1323)TGG>TAG		piwi-like 1							205.0	215.0	211.0					12																	130840130		2203	4300	6503	SO:0001587	stop_gained	9271				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	g.chr12:130840130G>A	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.1322G>A	12.37:g.130840130G>A	ENSP00000245255:p.Trp441*					PIWIL1_uc001uij.1_Nonsense_Mutation_p.W441*	p.W441*	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	12	1412	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		441					A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Nonsense_Mutation	SNP	ENST00000245255.3	37	c.1322G>A	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	G	41	8.798713	0.98958	.	.	ENSG00000125207	ENST00000245255	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.0001	18.4016	0.90518	0.0:0.0:1.0:0.0	.	.	.	.	X	441	.	ENSP00000245255:W441X	W	+	2	0	PIWIL1	129406083	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.618000	0.90932	2.577000	0.86979	0.650000	0.86243	TGG		PASS	0.388	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			34	385	34	385	---	---	---	---
GOLGA3	2802	broad.mit.edu	37	12	133393317	133393317	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr12:133393317G>A	ENST00000450791.2	-	2	398	c.215C>T	c.(214-216)aCg>aTg	p.T72M	GOLGA3_ENST00000204726.3_Missense_Mutation_p.T72M|GOLGA3_ENST00000537452.1_Missense_Mutation_p.T72M|GOLGA3_ENST00000545875.1_Missense_Mutation_p.T72M|GOLGA3_ENST00000456883.2_Missense_Mutation_p.T72M			Q08378	GOGA3_HUMAN	golgin A3	72	Pro-rich.				intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.T72M(2)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GAAGGGTGGCGTTGGCCCGTT	0.622																																						uc001ukz.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(214-216)ACG>ATG		Golgi autoantigen, golgin subfamily a, 3							93.0	92.0	92.0					12																	133393317		2203	4300	6503	SO:0001583	missense	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133393317G>A	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.215C>T	12.37:g.133393317G>A	ENSP00000410378:p.Thr72Met					GOLGA3_uc001ula.1_Missense_Mutation_p.T72M|GOLGA3_uc001ulb.2_Missense_Mutation_p.T72M	p.T72M	NM_005895	NP_005886	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	3	774	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	72			Pro-rich.		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	c.215C>T	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	G	8.239	0.806349	0.16467	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.31510	1.92;1.92;1.92;1.49;1.49	5.54	-0.358	0.12575	.	1.397070	0.04327	N	0.351656	T	0.14960	0.0361	N	0.04508	-0.205	0.09310	N	1	B;B;B	0.26258	0.145;0.087;0.087	B;B;B	0.11329	0.006;0.006;0.006	T	0.21930	-1.0231	10	0.36615	T	0.2	.	8.1324	0.31035	0.435:0.0:0.4632:0.1018	.	72;72;72	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	M	72	ENSP00000204726:T72M;ENSP00000410378:T72M;ENSP00000409303:T72M;ENSP00000442143:T72M;ENSP00000442603:T72M	ENSP00000204726:T72M	T	-	2	0	GOLGA3	131903390	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	-0.197000	0.09518	-0.521000	0.06426	-1.598000	0.00824	ACG		PASS	0.622	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		36	73	36	73	---	---	---	---
NALCN	259232	broad.mit.edu	37	13	101753188	101753188	+	Nonsense_Mutation	SNP	G	G	A	rs572483914		TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr13:101753188G>A	ENST00000251127.6	-	27	3190	c.3109C>T	c.(3109-3111)Cag>Tag	p.Q1037*		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1037					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.Q1037*(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)					GCAAAAAGCTGAACTCCAAAG	0.338													G|||	1	0.000199681	0.0	0.0	5008	,	,		20094	0.0		0.0	False		,,,				2504	0.001					uc001vox.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(3109-3111)CAG>TAG		voltage gated channel like 1							69.0	64.0	66.0					13																	101753188		2203	4300	6503	SO:0001587	stop_gained	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101753188G>A	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.3109C>T	13.37:g.101753188G>A	ENSP00000251127:p.Gln1037*						p.Q1037*	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			27	3298	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		1037			Extracellular (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Nonsense_Mutation	SNP	ENST00000251127.6	37	c.3109C>T	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	43	9.916510	0.99295	.	.	ENSG00000102452	ENST00000251127	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.7959	0.96481	0.0:0.0:1.0:0.0	.	.	.	.	X	1037	.	ENSP00000251127:Q1037X	Q	-	1	0	NALCN	100551189	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.342000	0.97044	2.689000	0.91719	0.655000	0.94253	CAG		PASS	0.338	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		4	63	4	63	---	---	---	---
CHD8	57680	broad.mit.edu	37	14	21868389	21868389	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr14:21868389C>T	ENST00000557364.1	-	24	4911	c.4648G>A	c.(4648-4650)Gat>Aat	p.D1550N	CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000430710.3_Missense_Mutation_p.D1271N|SNORD8_ENST00000363915.1_RNA|CHD8_ENST00000399982.2_Missense_Mutation_p.D1550N			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1550					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)	p.D1550N(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CGGATCCAATCTGCCTTATGG	0.403																																						uc001was.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10						c.(3811-3813)GAT>AAT		chromodomain helicase DNA binding protein 8							137.0	129.0	131.0					14																	21868389		1853	4097	5950	SO:0001583	missense	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21868389C>T	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.4648G>A	14.37:g.21868389C>T	ENSP00000451601:p.Asp1550Asn					CHD8_uc001war.1_Missense_Mutation_p.D1167N|SNORD8_uc001wau.1_5'Flank	p.D1271N	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	24	3905	-	all_cancers(95;0.00121)		1550					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	c.3811G>A	CCDS53885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.25|18.25	3.582706|3.582706	0.65992|0.65992	.|.	.|.	ENSG00000100888|ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364|ENST00000555935	D;D;D|.	0.84516|.	-1.86;-1.86;-1.86|.	5.21|5.21	5.21|5.21	0.72293|0.72293	.|.	0.052363|.	0.85682|.	D|.	0.000000|.	T|T	0.68274|0.68274	0.2983|0.2983	L|L	0.47716|0.47716	1.5|1.5	0.58432|0.58432	D|D	0.999999|0.999999	P|.	0.49783|.	0.928|.	P|.	0.52909|.	0.713|.	T|T	0.64309|0.64309	-0.6438|-0.6438	10|5	0.45353|.	T|.	0.12|.	-13.531|-13.531	17.6948|17.6948	0.88278|0.88278	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1271|.	Q9HCK8-2|.	.|.	N|K	1271;1550;1270;1550|783	ENSP00000406288:D1271N;ENSP00000382863:D1550N;ENSP00000451601:D1550N|.	ENSP00000262707:D1270N|.	D|R	-|-	1|2	0|0	CHD8|CHD8	20938229|20938229	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	7.651000|7.651000	0.83577|0.83577	2.702000|2.702000	0.92279|0.92279	0.655000|0.655000	0.94253|0.94253	GAT|AGA		PASS	0.403	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		59	121	59	121	---	---	---	---
CTAGE5	4253	broad.mit.edu	37	14	39772705	39772705	+	Nonsense_Mutation	SNP	A	A	T			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr14:39772705A>T	ENST00000280083.3	+	11	1254	c.940A>T	c.(940-942)Aag>Tag	p.K314*	CTAGE5_ENST00000348007.3_Nonsense_Mutation_p.K314*|CTAGE5_ENST00000556148.1_Nonsense_Mutation_p.K239*|CTAGE5_ENST00000396158.2_Nonsense_Mutation_p.K319*|CTAGE5_ENST00000341749.3_Nonsense_Mutation_p.K302*|RP11-407N17.3_ENST00000553728.1_Nonsense_Mutation_p.K849*|CTAGE5_ENST00000553352.1_Nonsense_Mutation_p.K285*|CTAGE5_ENST00000396165.4_Nonsense_Mutation_p.K285*|CTAGE5_ENST00000557038.1_Nonsense_Mutation_p.K234*|RP11-407N17.3_ENST00000603904.1_Nonsense_Mutation_p.K285*|CTAGE5_ENST00000341502.5_Nonsense_Mutation_p.K314*			O15320	CTGE5_HUMAN	CTAGE family, member 5	314					positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)	p.K314*(1)	CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		AGGAGCTTTGAAGAAACTGAT	0.328																																						uc001wvg.3																			1	Substitution - Nonsense(1)		lung(1)		0						c.(940-942)AAG>TAG		CTAGE family, member 5 isoform 1							125.0	119.0	121.0					14																	39772705		2203	4300	6503	SO:0001587	stop_gained	4253						enzyme activator activity|protein binding	g.chr14:39772705A>T	U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"""meningioma expressed antigen 6 (coiled-coil proline-rich)"""	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.940A>T	14.37:g.39772705A>T	ENSP00000280083:p.Lys314*					CTAGE5_uc010tqe.1_Nonsense_Mutation_p.K276*|CTAGE5_uc001wuz.3_Nonsense_Mutation_p.K302*|CTAGE5_uc001wuy.3_Nonsense_Mutation_p.K234*|CTAGE5_uc001wvb.3_Nonsense_Mutation_p.K285*|CTAGE5_uc001wvc.3_Nonsense_Mutation_p.K259*|CTAGE5_uc001wva.3_Nonsense_Mutation_p.K285*|CTAGE5_uc001wve.1_Nonsense_Mutation_p.K290*|CTAGE5_uc001wvh.3_Nonsense_Mutation_p.K314*|CTAGE5_uc001wvf.3_Nonsense_Mutation_p.K239*|CTAGE5_uc001wvi.3_Nonsense_Mutation_p.K319*|CTAGE5_uc010amz.2_5'UTR|CTAGE5_uc001wvj.3_Nonsense_Mutation_p.K285*	p.K314*	NM_005930	NP_005921	O15320	CTGE5_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)	11	1276	+	Hepatocellular(127;0.213)		314					B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Nonsense_Mutation	SNP	ENST00000280083.3	37	c.940A>T	CCDS9674.1	.	.	.	.	.	.	.	.	.	.	A	42	9.786905	0.99264	.	.	ENSG00000258941;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527	ENST00000553728;ENST00000341749;ENST00000557038;ENST00000382245;ENST00000396165;ENST00000341502;ENST00000396158;ENST00000280083;ENST00000556148;ENST00000348007;ENST00000553352	.	.	.	5.15	3.97	0.46021	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.9878	0.41852	0.8297:0.1703:0.0:0.0	.	.	.	.	X	849;302;234;276;285;314;319;314;239;314;285	.	.	K	+	1	0	CTAGE5;RP11-407N17.3	38842456	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.678000	0.46900	0.849000	0.35215	0.482000	0.46254	AAG		PASS	0.328	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930		53	87	53	87	---	---	---	---
EXD2	55218	broad.mit.edu	37	14	69704332	69704332	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr14:69704332A>T	ENST00000409018.3	+	8	1461	c.1333A>T	c.(1333-1335)Atc>Ttc	p.I445F	EXD2_ENST00000409014.1_Missense_Mutation_p.I320F|EXD2_ENST00000409949.1_Missense_Mutation_p.I320F|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000449989.1_Missense_Mutation_p.I320F|EXD2_ENST00000409242.1_Missense_Mutation_p.I320F|RP11-363J20.2_ENST00000556316.1_lincRNA|EXD2_ENST00000312994.5_Missense_Mutation_p.I445F|EXD2_ENST00000409675.1_Missense_Mutation_p.I320F	NM_001193361.1	NP_001180290.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	445							3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)	p.I445F(1)|p.I320F(1)		breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						GCACTTCCCCATCGAGATGAA	0.532																																						uc001xkt.2																			2	Substitution - Missense(2)		lung(2)		0						c.(958-960)ATC>TTC		exonuclease 3'-5' domain containing 2							79.0	71.0	74.0					14																	69704332		2203	4300	6503	SO:0001583	missense	55218				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr14:69704332A>T	AK001600	CCDS9793.1, CCDS53902.1	14q24.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000081177	ENSG00000081177			20217	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 114"", ""exonuclease 3'-5' domain-like 2"""	C14orf114, EXDL2			Standard	NM_018199		Approved	FLJ10738	uc001xkv.3	Q9NVH0	OTTHUMG00000154496	ENST00000409018.3:c.1333A>T	14.37:g.69704332A>T	ENSP00000387331:p.Ile445Phe					EXD2_uc001xku.2_Missense_Mutation_p.I190F|EXD2_uc001xkv.2_Missense_Mutation_p.I445F|EXD2_uc001xkw.2_Missense_Mutation_p.I320F|EXD2_uc010aqt.2_Missense_Mutation_p.I445F|EXD2_uc010tte.1_Missense_Mutation_p.I445F|EXD2_uc001xky.2_Missense_Mutation_p.I320F	p.I320F	NM_018199	NP_060669	Q9NVH0	EXD2_HUMAN			10	1617	+			320					B4DIH6|G5E947|Q6AWB6|Q8N3D3	Missense_Mutation	SNP	ENST00000409018.3	37	c.958A>T	CCDS53902.1	.	.	.	.	.	.	.	.	.	.	A	13.77	2.335362	0.41398	.	.	ENSG00000081177	ENST00000409018;ENST00000409014;ENST00000409675;ENST00000409949;ENST00000409242;ENST00000312994;ENST00000449989	T;T;T;T;T;T;T	0.63417	0.36;-0.04;-0.04;-0.04;-0.04;0.36;-0.04	5.24	4.11	0.48088	.	0.437004	0.28016	N	0.016928	T	0.57388	0.2050	L	0.47716	1.5	0.45427	D	0.998408	P;B;B	0.49559	0.925;0.437;0.437	P;B;B	0.48571	0.582;0.174;0.174	T	0.58070	-0.7701	10	0.56958	D	0.05	-7.8207	5.2319	0.15426	0.6963:0.1519:0.1518:0.0	.	445;320;320	G5E947;B3KP95;Q9NVH0	.;.;EXD2_HUMAN	F	445;320;320;320;320;445;320	ENSP00000387331:I445F;ENSP00000386915:I320F;ENSP00000386762:I320F;ENSP00000386632:I320F;ENSP00000386839:I320F;ENSP00000313140:I445F;ENSP00000392177:I320F	ENSP00000313140:I445F	I	+	1	0	EXD2	68774085	0.997000	0.39634	0.998000	0.56505	0.911000	0.54048	1.690000	0.37711	1.018000	0.39521	-0.379000	0.06801	ATC		PASS	0.532	EXD2-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000335504.1			24	36	24	36	---	---	---	---
IGHM	3507	broad.mit.edu	37	14	106320570	106320570	+	RNA	SNP	C	C	T			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr14:106320570C>T	ENST00000390559.2	-	0	1239							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)										TGGGCCACCACGCAGGTGTAG	0.642																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							73.0	81.0	78.0					14																	106320570		2086	4181	6267			8755							g.chr14:106320570C>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.106320570C>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								3601		-								P20769	RNA	SNP	ENST00000390559.2	37	c.56404G>A																																																																																					PASS	0.642	IGHM-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326272.1	NG_001019		34	39	34	39	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	34064318	34064318	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr15:34064318T>C	ENST00000389232.4	+	63	9084	c.9014T>C	c.(9013-9015)tTt>tCt	p.F3005S	RYR3_ENST00000415757.3_Missense_Mutation_p.F3005S	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3005					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.F3005S(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACGTCCATCTTTGAGCACGTC	0.478																																						uc001zhi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(9013-9015)TTT>TCT		ryanodine receptor 3							84.0	79.0	81.0					15																	34064318		1986	4168	6154	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34064318T>C		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.9014T>C	15.37:g.34064318T>C	ENSP00000373884:p.Phe3005Ser					RYR3_uc010bar.2_Missense_Mutation_p.F3005S	p.F3005S	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	63	9084	+		all_lung(180;7.18e-09)	3005			Helical; Name=M'; (Potential).		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.9014T>C	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	T	16.61	3.172201	0.57584	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.98889	-5.21;-5.21	5.65	4.47	0.54385	.	0.188988	0.46442	D	0.000281	D	0.98998	0.9658	M	0.86178	2.8	0.48762	D	0.9997	B;D	0.71674	0.066;0.998	B;D	0.69479	0.041;0.964	D	0.99116	1.0848	10	0.87932	D	0	.	13.0373	0.58879	0.1281:0.0:0.0:0.8719	.	3005;3005	Q15413-2;Q15413	.;RYR3_HUMAN	S	3005	ENSP00000373884:F3005S;ENSP00000399610:F3005S	ENSP00000354735:F3005S	F	+	2	0	RYR3	31851610	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.038000	0.70964	2.371000	0.80710	0.533000	0.62120	TTT		PASS	0.478	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			8	44	8	44	---	---	---	---
TYRO3	7301	broad.mit.edu	37	15	41853468	41853468	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr15:41853468T>C	ENST00000263798.3	+	2	492	c.268T>C	c.(268-270)Tac>Cac	p.Y90H	TYRO3_ENST00000559066.1_Missense_Mutation_p.Y45H	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	90	Ig-like C2-type 1.				apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.Y82H(1)|p.Y90H(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GGACCAGTTGTACATCCCAGT	0.622																																						uc001zof.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(2)|central_nervous_system(1)	6						c.(268-270)TAC>CAC		TYRO3 protein tyrosine kinase precursor							74.0	69.0	71.0					15																	41853468		2203	4300	6503	SO:0001583	missense	7301					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr15:41853468T>C	D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.268T>C	15.37:g.41853468T>C	ENSP00000263798:p.Tyr90His					TYRO3_uc001zoe.2_Missense_Mutation_p.Y90H	p.Y90H	NM_006293	NP_006284	Q06418	TYRO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)	2	492	+		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)	90			Extracellular (Potential).|Ig-like C2-type 1.		O14953|Q86VR3	Missense_Mutation	SNP	ENST00000263798.3	37	c.268T>C	CCDS10080.1	.	.	.	.	.	.	.	.	.	.	T	19.25	3.790476	0.70337	.	.	ENSG00000092445	ENST00000540218;ENST00000263798	T	0.66280	-0.2	4.41	4.41	0.53225	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.972432	0.08364	N	0.957239	T	0.62684	0.2448	N	0.25201	0.72	0.51012	D	0.999907	P;D	0.54047	0.832;0.964	P;P	0.54238	0.644;0.746	T	0.52946	-0.8507	10	0.31617	T	0.26	-3.1504	13.8009	0.63199	0.0:0.0:0.0:1.0	.	90;151	Q06418;Q59FM9	TYRO3_HUMAN;.	H	22;90	ENSP00000263798:Y90H	ENSP00000263798:Y90H	Y	+	1	0	TYRO3	39640760	1.000000	0.71417	0.963000	0.40424	0.946000	0.59487	5.554000	0.67294	1.868000	0.54150	0.368000	0.22195	TAC		PASS	0.622	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252693.2			10	77	10	77	---	---	---	---
MAP1A	4130	broad.mit.edu	37	15	43822398	43822398	+	Silent	SNP	C	C	T			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr15:43822398C>T	ENST00000300231.5	+	6	8838	c.8388C>T	c.(8386-8388)ttC>ttT	p.F2796F	MAP1A_ENST00000399453.1_Silent_p.F2798F|MAP1A_ENST00000382031.1_Silent_p.F3034F			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2796					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)	p.F2796F(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	ATGAGTCCTTCCCTGCCTGCA	0.552																																						uc001zrt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(3)|pancreas(2)|skin(1)	9						c.(8386-8388)TTC>TTT		microtubule-associated protein 1A	Estramustine(DB01196)						115.0	122.0	120.0					15																	43822398		2113	4256	6369	SO:0001819	synonymous_variant	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43822398C>T	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.8388C>T	15.37:g.43822398C>T							p.F2796F	NM_002373	NP_002364	P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	6	8855	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	2796					O95643|Q12973|Q15882|Q9UJT4	Silent	SNP	ENST00000300231.5	37	c.8388C>T	CCDS42031.1																																																																																				PASS	0.552	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		12	149	12	149	---	---	---	---
GALK2	2585	broad.mit.edu	37	15	49493405	49493405	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr15:49493405C>A	ENST00000560031.1	+	2	407	c.100C>A	c.(100-102)Ccc>Acc	p.P34T	GALK2_ENST00000327171.3_Missense_Mutation_p.P23T|GALK2_ENST00000396509.2_Missense_Mutation_p.P10T|GALK2_ENST00000543495.1_5'UTR|GALK2_ENST00000544523.1_Missense_Mutation_p.P10T|GALK2_ENST00000559454.1_Missense_Mutation_p.P10T|RN7SL307P_ENST00000490342.2_RNA			Q01415	GALK2_HUMAN	galactokinase 2	34					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)	p.P34T(1)|p.P23T(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		all_lung(180;0.000325)		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)		TGGATCTATTCCCAAGTTTTA	0.303																																						uc001zxj.1																			2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(100-102)CCC>ACC		galactokinase 2 isoform 1							80.0	75.0	77.0					15																	49493405		2196	4294	6490	SO:0001583	missense	2585				galactose metabolic process	cytoplasm	ATP binding|galactokinase activity|N-acetylgalactosamine kinase activity	g.chr15:49493405C>A		CCDS32236.1, CCDS42034.1, CCDS73724.1	15q21.1-q21.2	2013-09-20			ENSG00000156958	ENSG00000156958	2.7.1.6		4119	protein-coding gene	gene with protein product		137028					Standard	XM_005254279		Approved	GK2	uc001zxj.1	Q01415	OTTHUMG00000172325	ENST00000560031.1:c.100C>A	15.37:g.49493405C>A	ENSP00000453129:p.Pro34Thr					GALK2_uc001zxi.1_Missense_Mutation_p.P23T|GALK2_uc010ufb.1_Missense_Mutation_p.P10T|GALK2_uc001zxk.2_RNA|GALK2_uc010ufc.1_Missense_Mutation_p.P10T	p.P34T	NM_002044	NP_002035	Q01415	GALK2_HUMAN		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)	2	198	+		all_lung(180;0.000325)	34					Q7Z4Q4	Missense_Mutation	SNP	ENST00000560031.1	37	c.100C>A	CCDS42034.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.073630	0.76415	.	.	ENSG00000156958	ENST00000327171;ENST00000396509;ENST00000544523	D;D	0.91740	-2.9;-2.9	5.07	5.07	0.68467	Ribosomal protein S5 domain 2-type fold (1);Galactokinase galactose-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.96417	0.8831	M	0.85630	2.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96995	0.9725	10	0.87932	D	0	2.2466	17.5724	0.87939	0.0:1.0:0.0:0.0	.	34;23	Q01415;Q7Z4Q4	GALK2_HUMAN;.	T	23;34;10	ENSP00000316632:P23T;ENSP00000440312:P10T	ENSP00000316632:P23T	P	+	1	0	GALK2	47280697	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.627000	0.61276	2.512000	0.84698	0.462000	0.41574	CCC		PASS	0.303	GALK2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417854.1			24	75	24	75	---	---	---	---
ONECUT1	3175	broad.mit.edu	37	15	53081523	53081523	+	Silent	SNP	G	G	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr15:53081523G>A	ENST00000305901.5	-	1	686	c.559C>T	c.(559-561)Ctg>Ttg	p.L187L	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	187					B cell differentiation (GO:0030183)|cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|endoderm development (GO:0007492)|epithelial cell development (GO:0002064)|glucose metabolic process (GO:0006006)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription, DNA-templated (GO:0006355)|spleen development (GO:0048536)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.L187L(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		ATGCTGCCCAGACCGGAGCTG	0.662																																						uc002aci.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(559-561)CTG>TTG		one cut homeobox 1							40.0	53.0	49.0					15																	53081523		2191	4290	6481	SO:0001819	synonymous_variant	3175				endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	g.chr15:53081523G>A	U77975	CCDS10150.1	15q21.3	2012-03-09	2007-07-16		ENSG00000169856	ENSG00000169856		"""Homeoboxes / CUT class"""	8138	protein-coding gene	gene with protein product		604164	"""one cut domain, family member 1"""	HNF6, HNF6A		8887657, 8790352	Standard	NM_004498		Approved	HNF-6	uc002aci.2	Q9UBC0	OTTHUMG00000131899	ENST00000305901.5:c.559C>T	15.37:g.53081523G>A							p.L187L	NM_004498	NP_004489	Q9UBC0	HNF6_HUMAN		all cancers(107;0.0708)	1	687	-			187					B2RTV4|Q99744|Q9UMR6	Silent	SNP	ENST00000305901.5	37	c.559C>T	CCDS10150.1																																																																																				PASS	0.662	ONECUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254849.2			25	71	25	71	---	---	---	---
WDR72	256764	broad.mit.edu	37	15	54007474	54007474	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr15:54007474A>T	ENST00000396328.1	-	5	669	c.430T>A	c.(430-432)Ttg>Atg	p.L144M	WDR72_ENST00000360509.5_Missense_Mutation_p.L144M|WDR72_ENST00000559418.1_Missense_Mutation_p.L144M|WDR72_ENST00000557913.1_Missense_Mutation_p.L144M	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	144								p.L144M(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		ACAACAGCCAAAGTTTTGGCA	0.398																																						uc002acj.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|skin(1)	2						c.(430-432)TTG>ATG		WD repeat domain 72							99.0	93.0	95.0					15																	54007474		2194	4293	6487	SO:0001583	missense	256764							g.chr15:54007474A>T	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.430T>A	15.37:g.54007474A>T	ENSP00000379619:p.Leu144Met					WDR72_uc010bfi.1_Missense_Mutation_p.L144M	p.L144M	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	5	472	-			144					Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	c.430T>A	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	A	17.00	3.277185	0.59758	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.60797	0.16;0.16	5.71	-0.37	0.12530	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.64402	D	0.000017	T	0.70962	0.3284	M	0.79258	2.445	0.30917	N	0.728451	D	0.89917	1.0	D	0.87578	0.998	T	0.70680	-0.4805	10	0.87932	D	0	.	9.4028	0.38442	0.6239:0.0:0.3761:0.0	.	144	Q3MJ13	WDR72_HUMAN	M	144	ENSP00000379619:L144M;ENSP00000353699:L144M	ENSP00000353699:L144M	L	-	1	2	WDR72	51794766	0.195000	0.23338	0.006000	0.13384	0.920000	0.55202	0.661000	0.25023	-0.087000	0.12528	0.533000	0.62120	TTG		PASS	0.398	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		18	104	18	104	---	---	---	---
NEDD4	4734	broad.mit.edu	37	15	56144621	56144621	+	Splice_Site	SNP	C	C	T			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr15:56144621C>T	ENST00000508342.1	-	9	2703		c.e9+1		NEDD4_ENST00000338963.2_Splice_Site|NEDD4_ENST00000435532.3_Splice_Site|NEDD4_ENST00000506154.1_Splice_Site	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase						adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)	p.?(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TTACAGGATACCTGTACAGTG	0.373																																						uc002adj.2																			2	Unknown(2)		lung(2)	skin(2)|ovary(1)|breast(1)	4						c.e9+1		neural precursor cell expressed, developmentally							179.0	146.0	157.0					15																	56144621		2193	4292	6485	SO:0001630	splice_region_variant	4734				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	g.chr15:56144621C>T	D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.2403+1G>A	15.37:g.56144621C>T						NEDD4_uc002adl.2_Splice_Site_p.Q382_splice|NEDD4_uc002adi.2_Splice_Site_p.Q729_splice|NEDD4_uc010ugj.1_Splice_Site_p.Q785_splice|NEDD4_uc010bfm.2_Splice_Site_p.Q784_splice|NEDD4_uc002adk.2_Splice_Site	p.Q801_splice	NM_198400	NP_006145	P46934	NEDD4_HUMAN		all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)	9	2703	-								A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Splice_Site	SNP	ENST00000508342.1	37	c.2403_splice		.	.	.	.	.	.	.	.	.	.	C	19.70	3.876507	0.72180	.	.	ENSG00000069869	ENST00000508342;ENST00000508871;ENST00000435532;ENST00000338963;ENST00000506154	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0414	0.89320	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NEDD4	53931913	1.000000	0.71417	0.944000	0.38274	0.693000	0.40251	7.318000	0.79029	2.494000	0.84150	0.555000	0.69702	.		PASS	0.373	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400	Intron	40	128	40	128	---	---	---	---
LDHAL6B	92483	broad.mit.edu	37	15	59499577	59499577	+	Silent	SNP	T	T	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr15:59499577T>A	ENST00000307144.4	+	1	536	c.438T>A	c.(436-438)ggT>ggA	p.G146G	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	146					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)	p.G146G(1)		endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10						TCACAGCAGGTGCACGCCAAG	0.433																																						uc002agb.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(436-438)GGT>GGA		lactate dehydrogenase A-like 6B	NADH(DB00157)						117.0	115.0	116.0					15																	59499577		2191	4290	6481	SO:0001819	synonymous_variant	92483				glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding	g.chr15:59499577T>A	AY009108	CCDS10171.1	15q21.3	2011-01-27	2004-07-27	2004-07-28	ENSG00000171989	ENSG00000171989			21481	protein-coding gene	gene with protein product			"""lactate dehydrogenase A-like 6"""	LDHAL6		15870898	Standard	NM_033195		Approved	LDHL, LDH6B	uc002agb.4	Q9BYZ2	OTTHUMG00000132714	ENST00000307144.4:c.438T>A	15.37:g.59499577T>A						MYO1E_uc002aga.2_Intron	p.G146G	NM_033195	NP_149972	Q9BYZ2	LDH6B_HUMAN			1	536	+			146					Q6DUY4|Q96LI2	Silent	SNP	ENST00000307144.4	37	c.438T>A	CCDS10171.1																																																																																				PASS	0.433	LDHAL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256015.1	NM_033195		93	223	93	223	---	---	---	---
TPM1	7168	broad.mit.edu	37	15	63353941	63353941	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr15:63353941A>G	ENST00000403994.3	+	6	673	c.593A>G	c.(592-594)aAa>aGa	p.K198R	TPM1_ENST00000560959.1_Intron|TPM1_ENST00000317516.7_Intron|TPM1_ENST00000267996.7_Missense_Mutation_p.K198R|TPM1_ENST00000404484.4_Intron|TPM1_ENST00000334895.5_Missense_Mutation_p.K162R|TPM1_ENST00000559556.1_Missense_Mutation_p.K198R|TPM1_ENST00000559397.1_Intron|TPM1_ENST00000288398.6_Intron|TPM1_ENST00000358278.3_Intron|TPM1_ENST00000560445.1_Intron|TPM1_ENST00000357980.4_Missense_Mutation_p.K240R|TPM1_ENST00000559281.1_Missense_Mutation_p.K162R	NM_001018005.1	NP_001018005.1	P09493	TPM1_HUMAN	tropomyosin 1 (alpha)	198					cardiac muscle contraction (GO:0060048)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|negative regulation of cell migration (GO:0030336)|positive regulation of ATPase activity (GO:0032781)|positive regulation of cell adhesion (GO:0045785)|positive regulation of heart rate by epinephrine (GO:0003065)|positive regulation of stress fiber assembly (GO:0051496)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|ruffle organization (GO:0031529)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|wound healing (GO:0042060)	bleb (GO:0032059)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|muscle thin filament tropomyosin (GO:0005862)|ruffle membrane (GO:0032587)|sarcomere (GO:0030017)|stress fiber (GO:0001725)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)	p.K198R(1)|p.K162R(1)		endometrium(1)|large_intestine(1)|lung(2)	4						GAAGAATTGAAAACTGTGACG	0.488																																						uc002alg.2																			2	Substitution - Missense(2)		lung(2)		0						c.(592-594)AAA>AGA		tropomyosin 1 alpha chain isoform 1							74.0	72.0	72.0					15																	63353941		2203	4300	6503	SO:0001583	missense	7168				cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle	g.chr15:63353941A>G	AB209041	CCDS10181.1, CCDS32262.1, CCDS32263.1, CCDS32264.1, CCDS45273.1, CCDS58368.1, CCDS58369.1	15q22.1	2014-09-17			ENSG00000140416	ENSG00000140416		"""Tropomyosins"""	12010	protein-coding gene	gene with protein product		191010	"""chromosome 15 open reading frame 13"", ""cardiomyopathy, hypertrophic 3"""	C15orf13, CMH3		10343096, 8205619	Standard	XM_005254637		Approved		uc002all.3	P09493	OTTHUMG00000132803	ENST00000403994.3:c.593A>G	15.37:g.63353941A>G	ENSP00000385107:p.Lys198Arg					TPM1_uc002alh.2_Intron|TPM1_uc010bgn.2_Intron|TPM1_uc002ali.2_Missense_Mutation_p.K198R|TPM1_uc002alj.2_Missense_Mutation_p.K198R|TPM1_uc002alk.2_Intron|TPM1_uc002all.2_Intron|TPM1_uc002alm.2_Missense_Mutation_p.K240R|TPM1_uc010uie.1_Missense_Mutation_p.K198R|TPM1_uc002alp.2_Missense_Mutation_p.K198R|TPM1_uc010uif.1_Intron|TPM1_uc002alr.2_Intron|TPM1_uc002als.2_Missense_Mutation_p.K162R|TPM1_uc010uig.1_Missense_Mutation_p.K162R|TPM1_uc002alt.2_Intron|TPM1_uc010bgp.2_Intron	p.K198R	NM_001018005	NP_001018005	P09493	TPM1_HUMAN			6	784	+			198			By similarity.		B7Z5T7|D9YZV2|D9YZV3|D9YZV8|P09494|P10469|Q6DV89|Q6DV90|Q7Z6L8|Q86W64|Q96IK2|Q9UCI1|Q9UCI2|Q9UCY9|Q9Y427	Missense_Mutation	SNP	ENST00000403994.3	37	c.593A>G	CCDS45273.1	.	.	.	.	.	.	.	.	.	.	A	12.10	1.835616	0.32421	.	.	ENSG00000140416	ENST00000267996;ENST00000403994;ENST00000357980;ENST00000404484;ENST00000334895	D;D;D;D	0.97553	-4.43;-4.43;-4.43;-4.43	6.17	6.17	0.99709	.	0.000000	0.56097	D	0.000039	D	0.93061	0.7791	N	0.10972	0.075	0.80722	D	1	B;B;B;B;B;B;B;B	0.22080	0.0;0.064;0.0;0.0;0.007;0.036;0.0;0.0	B;B;B;B;B;B;B;B	0.38225	0.005;0.268;0.007;0.013;0.041;0.201;0.001;0.013	D	0.88354	0.2983	10	0.02654	T	1	-7.308	16.0034	0.80327	1.0:0.0:0.0:0.0	.	162;198;162;198;240;198;198;198	B7Z722;P09493-6;D9YZV7;D9YZV4;Q6ZN40;Q9Y427;D9YZV3;P09493	.;.;.;.;.;.;.;TPM1_HUMAN	R	198;198;240;220;162	ENSP00000267996:K198R;ENSP00000385107:K198R;ENSP00000350667:K240R;ENSP00000334624:K162R	ENSP00000267996:K198R	K	+	2	0	TPM1	61140994	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	AAA		PASS	0.488	TPM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000417083.2	NM_001018004		8	99	8	99	---	---	---	---
TLE3	7090	broad.mit.edu	37	15	70342518	70342518	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr15:70342518C>G	ENST00000558939.1	-	20	3614	c.2237G>C	c.(2236-2238)aGt>aCt	p.S746T	TLE3_ENST00000559191.1_Missense_Mutation_p.S327T|TLE3_ENST00000560589.1_Missense_Mutation_p.S690T|TLE3_ENST00000539550.1_Missense_Mutation_p.S673T|TLE3_ENST00000451782.2_Missense_Mutation_p.S743T|TLE3_ENST00000557997.1_Missense_Mutation_p.S738T|TLE3_ENST00000440567.3_Missense_Mutation_p.S736T|TLE3_ENST00000558379.1_Missense_Mutation_p.S741T|TLE3_ENST00000557907.1_Missense_Mutation_p.S738T|TLE3_ENST00000317509.8_Missense_Mutation_p.S734T|TLE3_ENST00000559048.1_Missense_Mutation_p.S746T|TLE3_ENST00000560939.1_Missense_Mutation_p.S748T|TLE3_ENST00000558201.1_Missense_Mutation_p.S752T|TLE3_ENST00000559929.1_Missense_Mutation_p.S756T|TLE3_ENST00000442299.2_Missense_Mutation_p.S738T	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3	746					Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.S746T(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AATGTCACAACTCAAGACAGA	0.473																																						uc002asm.2																			1	Substitution - Missense(1)		lung(1)	lung(2)	2						c.(2236-2238)AGT>ACT		transducin-like enhancer protein 3 isoform a							142.0	142.0	142.0					15																	70342518		1990	4163	6153	SO:0001583	missense	7090				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|protein binding	g.chr15:70342518C>G	M99438	CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1	15q22	2014-03-07	2014-03-07			ENSG00000140332		"""WD repeat domain containing"""	11839	protein-coding gene	gene with protein product		600190	"""transducin-like enhancer of split 3, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005254623		Approved	ESG, ESG3, KIAA1547, HsT18976, GRG3	uc002asm.2	Q04726		ENST00000558939.1:c.2237G>C	15.37:g.70342518C>G	ENSP00000452871:p.Ser746Thr					TLE3_uc002ask.2_Missense_Mutation_p.S673T|TLE3_uc002asl.2_Missense_Mutation_p.S746T|TLE3_uc010ukd.1_Missense_Mutation_p.S736T|TLE3_uc010bik.1_Missense_Mutation_p.S327T|TLE3_uc010bil.1_Missense_Mutation_p.S743T|TLE3_uc002asn.2_Missense_Mutation_p.S734T|TLE3_uc002asp.2_Missense_Mutation_p.S738T|TLE3_uc002aso.2_Missense_Mutation_p.S741T	p.S746T	NM_005078	NP_005069	Q04726	TLE3_HUMAN			20	3356	-			746			WD 7.		B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5	Missense_Mutation	SNP	ENST00000558939.1	37	c.2237G>C	CCDS45293.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.593268	0.86953	.	.	ENSG00000140332	ENST00000442299;ENST00000451782;ENST00000317509;ENST00000440567;ENST00000539550	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	4.73	4.73	0.59995	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.75488	0.3856	L	0.53780	1.695	0.80722	D	1	P;D;P;D;P;D;D;D	0.71674	0.943;0.993;0.876;0.993;0.943;0.989;0.998;0.992	P;D;P;D;P;D;D;D	0.72982	0.906;0.979;0.801;0.965;0.906;0.944;0.971;0.965	T	0.78373	-0.2229	10	0.87932	D	0	-7.5254	17.4877	0.87693	0.0:1.0:0.0:0.0	.	736;743;738;741;734;746;746;673	F8W964;E9PD64;Q04726-3;Q6PI57;Q04726-2;Q04726;Q04726-4;F5H7D6	.;.;.;.;.;TLE3_HUMAN;.;.	T	738;743;746;736;673	ENSP00000390007:S738T;ENSP00000394717:S743T;ENSP00000415057:S736T;ENSP00000442594:S673T	ENSP00000319233:S746T	S	-	2	0	TLE3	68129572	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.535000	0.82014	2.474000	0.83562	0.462000	0.41574	AGT		PASS	0.473	TLE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416913.1	NM_005078		5	263	5	263	---	---	---	---
PKM	5315	broad.mit.edu	37	15	72509778	72509778	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr15:72509778C>T	ENST00000335181.5	-	3	321	c.218G>A	c.(217-219)cGt>cAt	p.R73H	PKM_ENST00000568459.1_Missense_Mutation_p.R73H|PKM_ENST00000389093.3_Missense_Mutation_p.R73H|PKM_ENST00000568883.1_Intron|PKM_ENST00000319622.6_Missense_Mutation_p.R73H|PKM_ENST00000449901.2_Intron|PKM_ENST00000565184.1_Missense_Mutation_p.R73H|PKM_ENST00000565154.1_Missense_Mutation_p.R73H	NM_002654.4	NP_002645.3	P14618	KPYM_HUMAN	pyruvate kinase, muscle	73					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|programmed cell death (GO:0012501)|small molecule metabolic process (GO:0044281)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)	p.R73H(2)		endometrium(1)|lung(7)	8					Pyruvic acid(DB00119)	GAAGTTCAGACGAGCCACATT	0.473																																						uc002atx.1																			2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(217-219)CGT>CAT		pyruvate kinase, muscle isoform M1	Pyruvic acid(DB00119)						104.0	97.0	100.0					15																	72509778		2199	4297	6496	SO:0001583	missense	5315				glycolysis|programmed cell death	cytosol|nucleus|plasma membrane	ATP binding|magnesium ion binding|potassium ion binding|protein binding|pyruvate kinase activity	g.chr15:72509778C>T	M23725	CCDS32284.1, CCDS32285.1, CCDS55972.1, CCDS73752.1	15q23	2012-10-02		2012-05-23	ENSG00000067225	ENSG00000067225	2.7.1.40		9021	protein-coding gene	gene with protein product		179050		PKM2		2040271	Standard	NM_002654		Approved	THBP1, OIP3, PK3	uc002atr.1	P14618	OTTHUMG00000172709	ENST00000335181.5:c.218G>A	15.37:g.72509778C>T	ENSP00000334983:p.Arg73His					PKM2_uc010bit.1_Missense_Mutation_p.R78H|PKM2_uc010uki.1_Missense_Mutation_p.R147H|PKM2_uc002atv.1_Missense_Mutation_p.R108H|PKM2_uc002atw.1_Missense_Mutation_p.R73H|PKM2_uc002aty.1_Missense_Mutation_p.R73H|PKM2_uc010ukj.1_Intron|PKM2_uc010ukk.1_Intron|PKM2_uc010biu.1_Missense_Mutation_p.R94H|PKM2_uc002atz.1_RNA	p.R73H	NM_182471	NP_872271	P14618	KPYM_HUMAN			3	459	-			73				Substrate (By similarity).	A6NFK3|B2R5N8|B3KRY0|B4DFX8|B4DUU6|P14786|Q53GK4|Q96E76|Q9BWB5|Q9UCV6|Q9UPF2	Missense_Mutation	SNP	ENST00000335181.5	37	c.218G>A	CCDS32284.1	.	.	.	.	.	.	.	.	.	.	C	32	5.136439	0.94517	.	.	ENSG00000067225	ENST00000319622;ENST00000335181;ENST00000389093	D;D;D	0.99789	-6.75;-6.75;-6.75	4.86	4.86	0.63082	Pyruvate/Phosphoenolpyruvate kinase (2);Pyruvate kinase, barrel (1);	0.000000	0.85682	D	0.000000	D	0.99736	0.9896	H	0.95470	3.675	0.80722	D	1	B;D;P;P	0.61080	0.446;0.989;0.795;0.541	B;P;B;B	0.50405	0.16;0.64;0.226;0.07	D	0.97623	1.0137	10	0.87932	D	0	-16.7362	18.3424	0.90309	0.0:1.0:0.0:0.0	.	73;73;73;73	B4DRT3;E7EUQ8;P14618;P14618-2	.;.;KPYM_HUMAN;.	H	73	ENSP00000320171:R73H;ENSP00000334983:R73H;ENSP00000373745:R73H	ENSP00000320171:R73H	R	-	2	0	PKM2	70296832	1.000000	0.71417	0.815000	0.32552	0.997000	0.91878	7.718000	0.84743	2.383000	0.81215	0.563000	0.77884	CGT		PASS	0.473	PKM-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420056.1			20	56	20	56	---	---	---	---
CHRNB4	1143	broad.mit.edu	37	15	78922133	78922133	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr15:78922133G>A	ENST00000261751.3	-	5	625	c.514C>T	c.(514-516)Cgc>Tgc	p.R172C	CHRNB4_ENST00000412074.2_Intron|CHRNB4_ENST00000560511.1_5'Flank|RP11-335K5.2_ENST00000559120.1_RNA	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	172					action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)	p.R172C(1)		endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	GTCCAGGAGCGGAACTTGAGG	0.572																																						uc002bed.1																			1	Substitution - Missense(1)		lung(1)		0						c.(514-516)CGC>TGC		cholinergic receptor, nicotinic, beta 4							93.0	81.0	85.0					15																	78922133		2196	4293	6489	SO:0001583	missense	1143				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78922133G>A	U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1964	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 4 (neuronal)"""	118509	"""cholinergic receptor, nicotinic, beta polypeptide 4"""			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.514C>T	15.37:g.78922133G>A	ENSP00000261751:p.Arg172Cys					CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_5'UTR	p.R172C	NM_000750	NP_000741	P30926	ACHB4_HUMAN			5	626	-			172			Extracellular (Potential).		A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Missense_Mutation	SNP	ENST00000261751.3	37	c.514C>T	CCDS10306.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.085289	0.76642	.	.	ENSG00000117971	ENST00000261751	T	0.79653	-1.29	4.87	4.87	0.63330	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.91099	0.7198	M	0.86740	2.835	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92875	0.6318	10	0.87932	D	0	.	17.9813	0.89141	0.0:0.0:1.0:0.0	.	172	P30926	ACHB4_HUMAN	C	172	ENSP00000261751:R172C	ENSP00000261751:R172C	R	-	1	0	CHRNB4	76709188	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.414000	0.66405	2.242000	0.73789	0.655000	0.94253	CGC		PASS	0.572	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290108.1			31	89	31	89	---	---	---	---
AGBL1	123624	broad.mit.edu	37	15	86838602	86838602	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr15:86838602G>T	ENST00000441037.2	+	16	2294	c.2199G>T	c.(2197-2199)atG>atT	p.M733I	AGBL1-AS1_ENST00000564487.1_RNA|AGBL1_ENST00000389298.3_Missense_Mutation_p.M464I|AGBL1_ENST00000421325.2_Missense_Mutation_p.M733I|AGBL1-AS1_ENST00000566878.1_RNA	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	733					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.M733I(1)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TCACGGCCATGCCTGAGTCCA	0.493																																						uc002blz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2197-2199)ATG>ATT		ATP/GTP binding protein-like 1							112.0	111.0	112.0					15																	86838602		1997	4173	6170	SO:0001583	missense	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:86838602G>T	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.2199G>T	15.37:g.86838602G>T	ENSP00000413001:p.Met733Ile					AGBL1_uc002bma.1_Missense_Mutation_p.M464I|AGBL1_uc002bmb.1_Missense_Mutation_p.M427I	p.M733I	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN			16	2279	+			733					A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	c.2199G>T	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.891444	0.52014	.	.	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.10573	2.86;2.86	5.6	3.54	0.40534	Peptidase M14, carboxypeptidase A (1);	0.436377	0.25744	N	0.028600	T	0.13628	0.0330	L	0.59436	1.845	0.27767	N	0.943626	B;B;P	0.39352	0.05;0.05;0.669	B;B;B	0.41374	0.061;0.061;0.355	T	0.05084	-1.0907	10	0.51188	T	0.08	-17.8705	10.0709	0.42332	0.0:0.144:0.697:0.159	.	432;464;733	Q96MI9-2;Q96MI9-3;Q96MI9	.;.;CBPC4_HUMAN	I	762;733;464	ENSP00000397173:M733I;ENSP00000373949:M464I	ENSP00000373949:M464I	M	+	3	0	AGBL1	84639606	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.195000	0.51013	1.433000	0.47394	0.650000	0.86243	ATG		PASS	0.493	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		51	128	51	128	---	---	---	---
NTRK3	4916	broad.mit.edu	37	15	88679149	88679149	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr15:88679149A>C	ENST00000360948.2	-	8	1049	c.888T>G	c.(886-888)agT>agG	p.S296R	NTRK3_ENST00000357724.2_Missense_Mutation_p.S296R|NTRK3_ENST00000557856.1_Missense_Mutation_p.S296R|NTRK3_ENST00000317501.3_Missense_Mutation_p.S296R|NTRK3_ENST00000355254.2_Missense_Mutation_p.S296R|NTRK3_ENST00000542733.2_Missense_Mutation_p.S198R|NTRK3_ENST00000540489.2_Missense_Mutation_p.S296R|NTRK3_ENST00000558676.1_Missense_Mutation_p.S296R|NTRK3_ENST00000394480.2_Missense_Mutation_p.S296R	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	296	Ig-like C2-type 1.				activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.S296R(3)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGAGGGCAACACTGGCATTGC	0.542			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																												uc002bme.1				Dom	yes		15	15q25	4916	T	"""neurotrophic tyrosine kinase, receptor, type 3"""			"""E, M"""	ETV6		congenital fibrosarcoma|Secretory breast 	ETV6/NTRK3(234)	3	Substitution - Missense(3)		lung(3)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281						c.(886-888)AGT>AGG		neurotrophic tyrosine kinase, receptor, type 3							199.0	123.0	149.0					15																	88679149		2201	4299	6500	SO:0001583	missense	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88679149A>C	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.888T>G	15.37:g.88679149A>C	ENSP00000354207:p.Ser296Arg	TSP Lung(13;0.10)				NTRK3_uc002bmh.2_Missense_Mutation_p.S296R|NTRK3_uc002bmf.1_Missense_Mutation_p.S296R|NTRK3_uc010upl.1_Missense_Mutation_p.S198R|NTRK3_uc010bnh.1_Missense_Mutation_p.S296R|NTRK3_uc002bmg.2_Missense_Mutation_p.S296R	p.S296R	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		8	1050	-			296			Ig-like C2-type 1.|Extracellular (Potential).		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	c.888T>G	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	A	17.37	3.373062	0.61624	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000540489;ENST00000317501	T;T;T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31	5.51	-11.0	0.00169	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.271361	0.43260	N	0.000592	T	0.68943	0.3056	M	0.63428	1.95	0.28051	N	0.933369	P;P;P;D;P;P	0.67145	0.912;0.876;0.844;0.996;0.878;0.843	P;P;P;D;P;P	0.64410	0.675;0.559;0.883;0.925;0.505;0.655	T	0.78555	-0.2159	10	0.87932	D	0	.	12.7219	0.57147	0.6982:0.0:0.2242:0.0776	.	198;296;296;296;296;296	B7Z7U4;E9PG56;B7Z4C5;Q96CY4;Q16288-3;Q16288	.;.;.;.;.;NTRK3_HUMAN	R	296;296;296;296;198;296;296	ENSP00000377990:S296R;ENSP00000354207:S296R;ENSP00000350356:S296R;ENSP00000347397:S296R;ENSP00000437773:S198R;ENSP00000444673:S296R;ENSP00000318328:S296R	ENSP00000318328:S296R	S	-	3	2	NTRK3	86480153	0.020000	0.18652	0.041000	0.18516	0.891000	0.51852	-0.866000	0.04245	-2.374000	0.00599	-0.376000	0.06991	AGT		PASS	0.542	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				30	66	30	66	---	---	---	---
TICRR	90381	broad.mit.edu	37	15	90145164	90145164	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr15:90145164G>A	ENST00000268138.7	+	12	2629	c.2524G>A	c.(2524-2526)Gat>Aat	p.D842N	TICRR_ENST00000560985.1_Missense_Mutation_p.D841N			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	842					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.D842N(1)									CCCTGAATCTGATGAACTGCA	0.408																																						uc002boe.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)|skin(1)	7						c.(2524-2526)GAT>AAT		leucine-rich repeat kinase 1							98.0	90.0	92.0					15																	90145164		1904	4128	6032	SO:0001583	missense	90381				cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding	g.chr15:90145164G>A	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.2524G>A	15.37:g.90145164G>A	ENSP00000268138:p.Asp842Asn						p.D842N	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		12	2524	+	Lung NSC(78;0.0237)|all_lung(78;0.0478)		842					B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	ENST00000268138.7	37	c.2524G>A	CCDS10352.2	.	.	.	.	.	.	.	.	.	.	G	18.64	3.668288	0.67814	.	.	ENSG00000140534	ENST00000268138	T	0.16897	2.31	5.76	4.85	0.62838	.	0.247105	0.46145	N	0.000311	T	0.19127	0.0459	L	0.45228	1.405	0.51233	D	0.999919	P	0.46277	0.875	B	0.43301	0.415	T	0.01316	-1.1387	10	0.46703	T	0.11	-12.2785	14.8613	0.70384	0.0687:0.0:0.9313:0.0	.	842	Q7Z2Z1	TICRR_HUMAN	N	842	ENSP00000268138:D842N	ENSP00000268138:D842N	D	+	1	0	C15orf42	87946168	1.000000	0.71417	0.663000	0.29738	0.213000	0.24496	5.393000	0.66279	1.579000	0.49836	0.655000	0.94253	GAT		PASS	0.408	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259		52	96	52	96	---	---	---	---
CAPN15	6650	broad.mit.edu	37	16	603040	603040	+	Splice_Site	SNP	A	A	T			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr16:603040A>T	ENST00000219611.2	+	13	3445	c.3082A>T	c.(3082-3084)Agg>Tgg	p.R1028W	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	1028					proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R1028W(1)									ACCCCTGCACAGGTGcgcccc	0.701																																						uc002chi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(3082-3084)AGG>TGG		small optic lobes							32.0	28.0	30.0					16																	603040		2190	4292	6482	SO:0001630	splice_region_variant	6650				proteolysis	intracellular	calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:603040A>T	U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"""small optic lobes (Drosophila) homolog"", ""small optic lobes homolog (Drosophila)"""	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.3083+1A>T	16.37:g.603040A>T						SOLH_uc002chj.2_Missense_Mutation_p.R88W	p.R1028W	NM_005632	NP_005623	O75808	CAN15_HUMAN			13	3445	+		Hepatocellular(780;0.00335)	1028					B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Missense_Mutation	SNP	ENST00000219611.2	37	c.3082A>T	CCDS10410.1	.	.	.	.	.	.	.	.	.	.	a	18.17	3.565394	0.65651	.	.	ENSG00000103326	ENST00000219611	D	0.94330	-3.4	5.22	2.72	0.32119	.	0.065943	0.85682	D	0.000000	D	0.95535	0.8549	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95029	0.8167	10	0.87932	D	0	.	10.8659	0.46856	0.7009:0.2991:0.0:0.0	.	1028	O75808	CAN15_HUMAN	W	1028	ENSP00000219611:R1028W	ENSP00000219611:R1028W	R	+	1	2	SOLH	543041	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	4.595000	0.61048	0.883000	0.36040	0.409000	0.27619	AGG		PASS	0.701	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239271.1	NM_005632	Missense_Mutation	4	15	4	15	---	---	---	---
HS3ST4	9951	broad.mit.edu	37	16	26147055	26147055	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr16:26147055T>C	ENST00000331351.5	+	2	1249	c.857T>C	c.(856-858)gTg>gCg	p.V286A	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	286					heparan sulfate proteoglycan metabolic process (GO:0030201)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)	p.V286A(2)		breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		CTGATTGTGGTGGTGAGAAAC	0.512																																						uc002dof.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)|breast(1)	2						c.(856-858)GTG>GCG		heparan sulfate D-glucosaminyl							142.0	130.0	134.0					16																	26147055		1568	3582	5150	SO:0001583	missense	9951				heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	g.chr16:26147055T>C	AF105378	CCDS53995.1	16p11.2	2008-03-12			ENSG00000182601	ENSG00000182601	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5200	protein-coding gene	gene with protein product		604059				9988767	Standard	NM_006040		Approved	3OST4	uc002dof.3	Q9Y661	OTTHUMG00000059978	ENST00000331351.5:c.857T>C	16.37:g.26147055T>C	ENSP00000330606:p.Val286Ala						p.V286A	NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN		GBM - Glioblastoma multiforme(48;0.0988)	2	1249	+			286			Lumenal (Potential).		Q5QI42|Q8NDC2	Missense_Mutation	SNP	ENST00000331351.5	37	c.857T>C	CCDS53995.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.542776	0.85917	.	.	ENSG00000182601	ENST00000331351	D	0.85484	-1.99	5.25	5.25	0.73442	Sulfotransferase domain (1);	0.000000	0.64402	U	0.000013	D	0.94496	0.8228	H	0.95470	3.675	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95925	0.8934	10	0.87932	D	0	.	14.313	0.66429	0.0:0.0:0.0:1.0	.	286	Q9Y661	HS3S4_HUMAN	A	286	ENSP00000330606:V286A	ENSP00000330606:V286A	V	+	2	0	HS3ST4	26054556	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.980000	0.88113	1.978000	0.57642	0.533000	0.62120	GTG		PASS	0.512	HS3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133286.2	NM_006040		34	120	34	120	---	---	---	---
ABCC12	94160	broad.mit.edu	37	16	48172191	48172191	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr16:48172191G>C	ENST00000311303.3	-	6	1272	c.927C>G	c.(925-927)atC>atG	p.I309M	ABCC12_ENST00000416054.1_Missense_Mutation_p.I309M|ABCC12_ENST00000448542.1_Missense_Mutation_p.I309M	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	309	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.I309M(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TGATCAGCCTGATGCAGGTCA	0.418																																						uc002efc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(925-927)ATC>ATG		ATP-binding cassette protein C12							132.0	120.0	124.0					16																	48172191		2201	4300	6501	SO:0001583	missense	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48172191G>C	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.927C>G	16.37:g.48172191G>C	ENSP00000311030:p.Ile309Met					ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA|ABCC12_uc002efe.1_Missense_Mutation_p.I309M|ABCC12_uc010vgj.1_RNA	p.I309M	NM_033226	NP_150229	Q96J65	MRP9_HUMAN			6	1273	-		all_cancers(37;0.0474)|all_lung(18;0.047)	309			ABC transmembrane type-1 1.		Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	c.927C>G	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.520552	0.64747	.	.	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939;ENST00000416054	D;D;D	0.92199	-2.99;-2.99;-2.99	5.88	4.93	0.64822	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.93527	0.7934	L	0.60455	1.87	0.53688	D	0.999979	D;D	0.71674	0.988;0.998	D;D	0.73380	0.944;0.98	D	0.92579	0.6073	10	0.54805	T	0.06	.	5.7289	0.18028	0.1584:0.0:0.6831:0.1584	.	309;309	Q96J65-2;Q96J65	.;MRP9_HUMAN	M	309;309;251;309	ENSP00000311030:I309M;ENSP00000401855:I309M;ENSP00000413046:I309M	ENSP00000311030:I309M	I	-	3	3	ABCC12	46729692	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	0.370000	0.20433	1.477000	0.48234	0.655000	0.94253	ATC		PASS	0.418	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		68	139	68	139	---	---	---	---
CTCF	10664	broad.mit.edu	37	16	67662443	67662443	+	Silent	SNP	A	A	G			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr16:67662443A>G	ENST00000264010.4	+	9	2133	c.1689A>G	c.(1687-1689)acA>acG	p.T563T	CTCF_ENST00000401394.1_Silent_p.T235T	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	563					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|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 negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.T563T(1)		breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		GTGGGAAAACATTTACACGTC	0.463																																					Colon(175;1200 1966 6945 23069 27405)	uc002etl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1687-1689)ACA>ACG		CCCTC-binding factor							206.0	189.0	195.0					16																	67662443		2198	4300	6498	SO:0001819	synonymous_variant	10664				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:67662443A>G	U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"""Zinc fingers, C2H2-type"""	13723	protein-coding gene	gene with protein product	"""11 zinc finger transcriptional repressor"""	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.1689A>G	16.37:g.67662443A>G						CTCF_uc010cek.2_Silent_p.T235T|CTCF_uc002etm.1_Silent_p.T52T	p.T563T	NM_006565	NP_006556	P49711	CTCF_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)	9	1979	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	563			C2H2-type 11; atypical.		B5MC38|Q53XI7|Q59EL8	Silent	SNP	ENST00000264010.4	37	c.1689A>G	CCDS10841.1																																																																																				PASS	0.463	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	NM_006565		79	186	79	186	---	---	---	---
DUS2	54920	broad.mit.edu	37	16	68112719	68112719	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr16:68112719G>C	ENST00000565263.1	+	17	1806	c.1312G>C	c.(1312-1314)Gag>Cag	p.E438Q	RP11-67A1.2_ENST00000548144.1_RNA|DUS2_ENST00000358896.6_Missense_Mutation_p.E438Q|DUS2_ENST00000432752.1_Missense_Mutation_p.E403Q	NM_017803.3	NP_060273.1	Q9NX74	DUS2L_HUMAN	dihydrouridine synthase 2	438					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.E438Q(1)									GGGCCTCCCTGAGGGTCGGCT	0.632																																						uc002evi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1312-1314)GAG>CAG		dihydrouridine synthase 2-like, SMM1 homolog							30.0	34.0	32.0					16																	68112719		2198	4298	6496	SO:0001583	missense	54920				tRNA processing	endoplasmic reticulum	double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity	g.chr16:68112719G>C		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.1312G>C	16.37:g.68112719G>C	ENSP00000455229:p.Glu438Gln					DUS2L_uc002evj.2_Missense_Mutation_p.E438Q|DUS2L_uc010vkk.1_Missense_Mutation_p.E403Q|DUS2L_uc010cez.2_Missense_Mutation_p.E351Q	p.E438Q	NM_017803	NP_060273	Q9NX74	DUS2L_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564)	17	1461	+		Ovarian(137;0.192)	438					A8K3G3|Q4H4D9	Missense_Mutation	SNP	ENST00000565263.1	37	c.1312G>C	CCDS10859.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.803646	0.90623	.	.	ENSG00000167264	ENST00000358896;ENST00000432752	T;T	0.63255	-0.03;-0.03	5.55	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.48857	0.1523	L	0.29908	0.895	0.58432	D	0.999997	B;B	0.33777	0.407;0.425	B;B	0.33392	0.156;0.163	T	0.51004	-0.8760	10	0.44086	T	0.13	-0.388	11.7966	0.52104	0.0817:0.0:0.9183:0.0	.	403;438	E7EUN9;Q9NX74	.;DUS2L_HUMAN	Q	438;403	ENSP00000351769:E438Q;ENSP00000409498:E403Q	ENSP00000351769:E438Q	E	+	1	0	DUS2L	66670220	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.936000	0.92931	2.611000	0.88343	0.655000	0.94253	GAG		PASS	0.632	DUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268869.2	NM_017803		16	47	16	47	---	---	---	---
CMTR2	55783	broad.mit.edu	37	16	71319141	71319141	+	Missense_Mutation	SNP	G	G	C	rs376567812		TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr16:71319141G>C	ENST00000338099.5	-	3	1019	c.683C>G	c.(682-684)aCt>aGt	p.T228S	CMTR2_ENST00000434935.2_Missense_Mutation_p.T228S			Q8IYT2	CMTR2_HUMAN	cap methyltransferase 2	228	Adrift-type SAM-dependent 2'-O-MTase. {ECO:0000255|PROSITE-ProRule:PRU00946}.				7-methylguanosine mRNA capping (GO:0006370)|cap2 mRNA methylation (GO:0097310)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)	p.T228S(1)									CAAGTGAACAGTAGCCATGCT	0.423																																						uc010cga.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(682-684)ACT>AGT		FtsJ methyltransferase domain containing 1		G	SER/THR,SER/THR	1,4395	2.1+/-5.4	0,1,2197	102.0	102.0	102.0		683,683	6.0	0.1	16		102	0,8600		0,0,4300	no	missense,missense	FTSJD1	NM_001099642.1,NM_018348.5	58,58	0,1,6497	CC,CG,GG		0.0,0.0227,0.0077	benign,benign	228/771,228/771	71319141	1,12995	2198	4300	6498	SO:0001583	missense	55783					integral to membrane	methyltransferase activity|nucleic acid binding	g.chr16:71319141G>C	BC035005	CCDS10898.1	16q22.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000180917	ENSG00000180917			25635	protein-coding gene	gene with protein product	"""adrift homolog (Drosophila)"""		"""FtsJ methyltransferase domain containing 1"""	FTSJD1		21310715	Standard	NM_018348		Approved	FLJ11171, AFT, MTr2	uc010cga.3	Q8IYT2	OTTHUMG00000137587	ENST00000338099.5:c.683C>G	16.37:g.71319141G>C	ENSP00000337512:p.Thr228Ser					FTSJD1_uc002ezy.3_Missense_Mutation_p.T228S|FTSJD1_uc002ezz.3_Missense_Mutation_p.T228S	p.T228S	NM_001099642	NP_001093112	Q8IYT2	FTSJ1_HUMAN			3	1089	-			228					B2RCD5|D3DWS1|Q8NE77|Q8NFR5|Q9H8Z4|Q9NUS3|Q9NXF5	Missense_Mutation	SNP	ENST00000338099.5	37	c.683C>G	CCDS10898.1	.	.	.	.	.	.	.	.	.	.	G	0.021	-1.425983	0.01126	2.27E-4	0.0	ENSG00000180917	ENST00000338099;ENST00000434935	T;T	0.38560	1.13;1.13	6.04	6.04	0.98038	Ribosomal RNA methyltransferase RrmJ/FtsJ (1);	0.887861	0.09769	N	0.758293	T	0.30916	0.0780	N	0.13168	0.305	0.09310	N	1	B	0.20459	0.045	B	0.18871	0.023	T	0.11591	-1.0581	10	0.08381	T	0.77	-14.1144	19.5674	0.95401	0.0:0.0:1.0:0.0	.	228	Q8IYT2	FTSJ1_HUMAN	S	228	ENSP00000337512:T228S;ENSP00000411148:T228S	ENSP00000337512:T228S	T	-	2	0	FTSJD1	69876642	0.469000	0.25846	0.069000	0.20011	0.450000	0.32258	3.860000	0.55995	2.873000	0.98535	0.561000	0.74099	ACT		PASS	0.423	CMTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268984.2	NM_018348		10	133	10	133	---	---	---	---
GSE1	23199	broad.mit.edu	37	16	85694958	85694958	+	Missense_Mutation	SNP	G	G	A	rs367594478		TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr16:85694958G>A	ENST00000253458.7	+	9	2023	c.1847G>A	c.(1846-1848)cGc>cAc	p.R616H	GSE1_ENST00000405402.2_Missense_Mutation_p.R512H|RN7SL381P_ENST00000577658.1_RNA|GSE1_ENST00000393243.1_Missense_Mutation_p.R543H	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	616	Pro-rich.							p.R616H(1)									GAGCCCAGCCGCCAGGCAGCC	0.667																																						uc002fix.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(3)|ovary(1)|skin(1)	5						c.(1846-1848)CGC>CAC		genetic suppressor element 1 isoform 1		G	HIS/ARG,HIS/ARG	1,4351		0,1,2175	25.0	32.0	30.0		1535,1847	4.2	1.0	16		30	0,8518		0,0,4259	no	missense,missense	KIAA0182	NM_001134473.1,NM_014615.2	29,29	0,1,6434	AA,AG,GG		0.0,0.023,0.0078	probably-damaging,probably-damaging	512/1114,616/1218	85694958	1,12869	2176	4259	6435	SO:0001583	missense	23199						protein binding	g.chr16:85694958G>A	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.1847G>A	16.37:g.85694958G>A	ENSP00000253458:p.Arg616His					KIAA0182_uc002fiw.2_Missense_Mutation_p.R512H|KIAA0182_uc002fiy.2_Missense_Mutation_p.R543H|KIAA0182_uc002fiz.2_5'Flank|KIAA0182_uc010cho.2_5'Flank	p.R616H	NM_014615	NP_055430	Q14687	GSE1_HUMAN			9	1921	+			616			Pro-rich.		D3DUM4|Q8IY61|Q96GA4|Q9BW09	Missense_Mutation	SNP	ENST00000253458.7	37	c.1847G>A	CCDS10952.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.6|22.6	4.307022|4.307022	0.81247|0.81247	2.3E-4|2.3E-4	0.0|0.0	ENSG00000131149|ENSG00000131149	ENST00000412692|ENST00000405402;ENST00000253458;ENST00000393243	.|T;T;T	.|0.48201	.|0.83;0.85;0.82	5.17|5.17	4.19|4.19	0.49359|0.49359	.|.	.|0.114351	.|0.64402	.|D	.|0.000012	T|T	0.57710|0.57710	0.2072|0.2072	L|L	0.34521|0.34521	1.04|1.04	0.47511|0.47511	D|D	0.99944|0.99944	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.998	T|T	0.60530|0.60530	-0.7245|-0.7245	5|10	.|0.59425	.|D	.|0.04	-20.9807|-20.9807	14.5077|14.5077	0.67764|0.67764	0.0:0.0:0.8518:0.1482|0.0:0.0:0.8518:0.1482	.|.	.|543;616	.|Q14687-3;Q14687	.|.;GSE1_HUMAN	T|H	423|512;616;543	.|ENSP00000384839:R512H;ENSP00000253458:R616H;ENSP00000376934:R543H	.|ENSP00000253458:R616H	A|R	+|+	1|2	0|0	KIAA0182|KIAA0182	84252459|84252459	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.785000|0.785000	0.44390|0.44390	7.119000|7.119000	0.77145|0.77145	1.126000|1.126000	0.42016|0.42016	0.561000|0.561000	0.74099|0.74099	GCC|CGC		PASS	0.667	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1	NM_014615		13	38	13	38	---	---	---	---
GEMIN4	50628	broad.mit.edu	37	17	649357	649357	+	Silent	SNP	C	C	T			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr17:649357C>T	ENST00000319004.5	-	2	2044	c.1926G>A	c.(1924-1926)gtG>gtA	p.V642V	GEMIN4_ENST00000576778.1_Silent_p.V631V	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	642					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)		p.V642V(2)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GAAGAGCAGCCACTGGAATCC	0.483																																						uc002frs.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|kidney(1)|skin(1)	4						c.(1924-1926)GTG>GTA		gemin 4							71.0	74.0	73.0					17																	649357		1886	4112	5998	SO:0001819	synonymous_variant	50628				rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding	g.chr17:649357C>T	AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"""HCC-associated protein 1"", ""component of gems 4"""	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.1926G>A	17.37:g.649357C>T							p.V642V	NM_015721	NP_056536	P57678	GEMI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	2	2045	-		Myeloproliferative disorder(207;0.204)	642					Q9NZS7|Q9UG32|Q9Y4Q2	Silent	SNP	ENST00000319004.5	37	c.1926G>A	CCDS45559.1																																																																																				PASS	0.483	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437181.1	NM_015721		4	117	4	117	---	---	---	---
C17orf85	55421	broad.mit.edu	37	17	3717728	3717728	+	Silent	SNP	A	A	G			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr17:3717728A>G	ENST00000389005.4	-	12	1542	c.1515T>C	c.(1513-1515)ttT>ttC	p.F505F	C17orf85_ENST00000158149.3_Silent_p.F225F	NM_001114118.2	NP_001107590.1	Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	505							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.F505F(1)|p.F225F(1)		endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		GGTTACTACTAAAAGCCTTTT	0.498																																						uc010ckl.1																			2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(1513-1515)TTT>TTC		ELG protein isoform a							107.0	95.0	99.0					17																	3717728		2203	4300	6503	SO:0001819	synonymous_variant	55421						nucleotide binding	g.chr17:3717728A>G		CCDS45578.1	17p13.2	2012-10-23			ENSG00000074356	ENSG00000074356			24612	protein-coding gene	gene with protein product	"""ELG protein"""					11412301	Standard	NM_001114118		Approved	HSA277841, ELG	uc010ckl.2	Q53F19	OTTHUMG00000177672	ENST00000389005.4:c.1515T>C	17.37:g.3717728A>G						C17orf85_uc002fwr.2_Silent_p.F215F|C17orf85_uc002fwq.2_Silent_p.F225F	p.F505F	NM_001114118	NP_001107590	Q53F19	CQ085_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)	12	1538	-			505					B3KWG7|Q7L406|Q96FK1|Q9NXZ4	Silent	SNP	ENST00000389005.4	37	c.1515T>C	CCDS45578.1																																																																																				PASS	0.498	C17orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438385.1	NM_018553		45	66	45	66	---	---	---	---
POLR2A	5430	broad.mit.edu	37	17	7411633	7411633	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr17:7411633A>G	ENST00000322644.6	+	20	3703	c.3304A>G	c.(3304-3306)Atg>Gtg	p.M1102V		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1102					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)	p.M1102V(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				TGCCACCCAGATGACCTTGAA	0.542																																						uc002ghf.3																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(3304-3306)ATG>GTG		DNA-directed RNA polymerase II A							94.0	65.0	75.0					17																	7411633		2203	4300	6503	SO:0001583	missense	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7411633A>G			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.3304A>G	17.37:g.7411633A>G	ENSP00000314949:p.Met1102Val						p.M1102V	NM_000937	NP_000928	P24928	RPB1_HUMAN			20	3538	+		Prostate(122;0.173)	1102					A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	c.3304A>G	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.501768	0.85176	.	.	ENSG00000181222	ENST00000535204;ENST00000545644;ENST00000322644	T	0.81163	-1.46	5.36	5.36	0.76844	RNA polymerase Rpb1, domain 5 (1);	0.000000	0.85682	D	0.000000	D	0.94118	0.8114	H	0.99117	4.435	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96353	0.9260	10	0.87932	D	0	-16.8859	14.3939	0.66999	1.0:0.0:0.0:0.0	.	1102	P24928	RPB1_HUMAN	V	1058;1;1102	ENSP00000314949:M1102V	ENSP00000314949:M1102V	M	+	1	0	SLC35G6	7352357	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.824000	0.92023	2.042000	0.60477	0.451000	0.29950	ATG		PASS	0.542	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		25	39	25	39	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578458	7578458	+	Missense_Mutation	SNP	G	G	C	rs587780068		TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr17:7578458G>C	ENST00000269305.4	-	5	661	c.472C>G	c.(472-474)Cgc>Ggc	p.R158G	TP53_ENST00000413465.2_Missense_Mutation_p.R158G|TP53_ENST00000445888.2_Missense_Mutation_p.R158G|TP53_ENST00000359597.4_Missense_Mutation_p.R158G|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R158G|TP53_ENST00000455263.2_Missense_Mutation_p.R158G	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.R158C(17)|p.R158G(16)|p.0?(8)|p.R158fs(6)|p.R158fs*12(6)|p.R158fs*11(6)|p.R65fs(2)|p.R65G(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.R26G(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.R158fs*24(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.R156fs*12(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.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)	GCCATGGCGCGGACGCGGGTG	0.622		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		98	Substitution - Missense(38)|Deletion - Frameshift(26)|Deletion - In frame(13)|Complex(10)|Whole gene deletion(8)|Complex - frameshift(2)|Insertion - Frameshift(1)	p.R158H(58)|p.R158L(53)|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.V157_R158delVR(1)|p.P151_V173del23(1)|p.R158fs*24(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.R156fs*12(1)|p.R158F(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.V157fs*21(1)|p.R158fs*8(1)	lung(25)|central_nervous_system(21)|stomach(7)|large_intestine(6)|haematopoietic_and_lymphoid_tissue(6)|skin(6)|upper_aerodigestive_tract(5)|breast(4)|oesophagus(4)|bone(4)|urinary_tract(3)|ovary(2)|pancreas(2)|liver(2)|soft_tissue(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	CM004341	TP53	M		c.(472-474)CGC>GGC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							51.0	52.0	51.0					17																	7578458		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.chr17:7578458G>C	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.472C>G	17.37:g.7578458G>C	ENSP00000269305:p.Arg158Gly	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.R158G|TP53_uc002gih.2_Missense_Mutation_p.R158G|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R26G|TP53_uc010cng.1_Missense_Mutation_p.R26G|TP53_uc002gii.1_Missense_Mutation_p.R26G|TP53_uc010cnh.1_Missense_Mutation_p.R158G|TP53_uc010cni.1_Missense_Mutation_p.R158G|TP53_uc002gij.2_Missense_Mutation_p.R158G|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R65G|TP53_uc002gio.2_Missense_Mutation_p.R26G|TP53_uc010vug.1_Missense_Mutation_p.R119G	p.R158G	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	666	-		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.472C>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.539522	0.45176	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99867	-7.31;-7.31;-7.31;-7.31;-7.31;-7.31;-7.31;-7.31;-7.31	5.59	3.57	0.40892	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	0.99851	0.9931	M	0.92026	3.265	0.58432	D	0.999995	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;0.992;0.994;0.998;0.996;0.994;1.0	D	0.97453	1.0029	10	0.87932	D	0	-10.4795	9.778	0.40632	0.0776:0.1408:0.7816:0.0	.	119;158;158;65;158;158;158	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	G	158;158;158;158;158;158;147;65;26;65;26;158	ENSP00000410739:R158G;ENSP00000352610:R158G;ENSP00000269305:R158G;ENSP00000398846:R158G;ENSP00000391127:R158G;ENSP00000391478:R158G;ENSP00000425104:R26G;ENSP00000423862:R65G;ENSP00000424104:R158G	ENSP00000269305:R158G	R	-	1	0	TP53	7519183	1.000000	0.71417	0.034000	0.17996	0.178000	0.23041	2.597000	0.46214	0.818000	0.34468	0.655000	0.94253	CGC		PASS	0.622	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		25	40	25	40	---	---	---	---
PER1	5187	broad.mit.edu	37	17	8046002	8046002	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr17:8046002G>C	ENST00000317276.4	-	20	3461	c.3224C>G	c.(3223-3225)tCc>tGc	p.S1075C	PER1_ENST00000578089.1_5'Flank|PER1_ENST00000581082.1_Missense_Mutation_p.S1052C	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	1075	Ser-rich.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)	p.S1075C(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCCTTCATGGGAGCCTGAACC	0.667			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																														uc002gkd.2				Dom	yes		17	17p13.1-17p12	5187	T	period homolog 1 (Drosophila)			L	ETV6		AML|CMML		1	Substitution - Missense(1)		lung(1)	lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1)	9						c.(3223-3225)TCC>TGC	Other_conserved_DNA_damage_response_genes	period 1							56.0	65.0	62.0					17																	8046002		2203	4300	6503	SO:0001583	missense	5187				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr17:8046002G>C	AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.3224C>G	17.37:g.8046002G>C	ENSP00000314420:p.Ser1075Cys					PER1_uc010cns.2_5'Flank|PER1_uc010vuq.1_RNA	p.S1075C	NM_002616	NP_002607	O15534	PER1_HUMAN			20	3462	-			1075			Ser-rich.		B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	ENST00000317276.4	37	c.3224C>G	CCDS11131.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.514790	0.85389	.	.	ENSG00000179094	ENST00000317276	T	0.36340	1.26	5.29	5.29	0.74685	Period circadian-like, C-terminal (1);	0.124301	0.56097	D	0.000033	T	0.54647	0.1871	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.51787	-0.8661	10	0.52906	T	0.07	-17.3297	14.3011	0.66352	0.0:0.0:1.0:0.0	.	1075	O15534	PER1_HUMAN	C	1075	ENSP00000314420:S1075C	ENSP00000314420:S1075C	S	-	2	0	PER1	7986727	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	6.339000	0.72969	2.761000	0.94854	0.655000	0.94253	TCC		PASS	0.667	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			31	45	31	45	---	---	---	---
PER1	5187	broad.mit.edu	37	17	8051538	8051538	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr17:8051538C>G	ENST00000317276.4	-	9	1325	c.1088G>C	c.(1087-1089)cGg>cCg	p.R363P	PER1_ENST00000354903.5_Missense_Mutation_p.R347P|PER1_ENST00000578089.1_5'Flank|PER1_ENST00000581082.1_Missense_Mutation_p.R343P	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	363	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)	p.R363P(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GGGTGTGTGCCGCGTAGTGAA	0.597			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																														uc002gkd.2				Dom	yes		17	17p13.1-17p12	5187	T	period homolog 1 (Drosophila)			L	ETV6		AML|CMML		1	Substitution - Missense(1)		lung(1)	lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1)	9						c.(1087-1089)CGG>CCG	Other_conserved_DNA_damage_response_genes	period 1							99.0	91.0	94.0					17																	8051538		2203	4300	6503	SO:0001583	missense	5187				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr17:8051538C>G	AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.1088G>C	17.37:g.8051538C>G	ENSP00000314420:p.Arg363Pro					PER1_uc010vuq.1_RNA|PER1_uc010vur.1_Missense_Mutation_p.R347P	p.R363P	NM_002616	NP_002607	O15534	PER1_HUMAN			9	1326	-			363			PAS 2.		B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	ENST00000317276.4	37	c.1088G>C	CCDS11131.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.760227	0.49468	.	.	ENSG00000179094	ENST00000317276;ENST00000354903	T;T	0.22134	1.97;1.97	5.34	4.31	0.51392	PAS (1);	0.100038	0.64402	D	0.000003	T	0.51618	0.1685	M	0.89601	3.045	0.18873	N	0.999982	P;D	0.76494	0.626;0.999	B;D	0.75484	0.16;0.986	T	0.49762	-0.8905	10	0.56958	D	0.05	-18.3711	13.1906	0.59709	0.0:0.8386:0.1614:0.0	.	347;363	B4DI49;O15534	.;PER1_HUMAN	P	363;347	ENSP00000314420:R363P;ENSP00000346979:R347P	ENSP00000314420:R363P	R	-	2	0	PER1	7992263	0.137000	0.22531	0.091000	0.20842	0.569000	0.35902	1.343000	0.33930	2.504000	0.84457	0.563000	0.77884	CGG		PASS	0.597	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			33	66	33	66	---	---	---	---
SMCR8	140775	broad.mit.edu	37	17	18219655	18219655	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr17:18219655G>C	ENST00000406438.3	+	1	1032	c.552G>C	c.(550-552)aaG>aaC	p.K184N	TOP3A_ENST00000542570.1_5'Flank|TOP3A_ENST00000582230.1_5'Flank|TOP3A_ENST00000321105.5_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	184						nucleus (GO:0005634)		p.K184N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						AGTGCTTGAAGACTGGCAACA	0.468																																						uc002gsy.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(550-552)AAG>AAC		Smith-Magenis syndrome chromosome region,							52.0	56.0	54.0					17																	18219655		2203	4300	6503	SO:0001583	missense	140775							g.chr17:18219655G>C	AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.552G>C	17.37:g.18219655G>C	ENSP00000385025:p.Lys184Asn						p.K184N	NM_144775	NP_658988	Q8TEV9	SMCR8_HUMAN			1	1062	+			184					A5PKZ5|Q3ZCN0|Q6PJL3	Missense_Mutation	SNP	ENST00000406438.3	37	c.552G>C	CCDS11195.2	.	.	.	.	.	.	.	.	.	.	G	11.93	1.786914	0.31593	.	.	ENSG00000176994	ENST00000406438	D	0.89875	-2.58	6.03	0.722	0.18225	.	0.000000	0.85682	D	0.000000	D	0.93015	0.7777	M	0.73962	2.25	0.50039	D	0.999842	D	0.89917	1.0	D	0.91635	0.999	D	0.91657	0.5339	10	0.87932	D	0	-30.742	12.7042	0.57051	0.3169:0.0:0.6831:0.0	.	184	Q8TEV9	SMCR8_HUMAN	N	184	ENSP00000385025:K184N	ENSP00000385025:K184N	K	+	3	2	SMCR8	18160380	1.000000	0.71417	0.501000	0.27601	0.519000	0.34347	1.181000	0.32017	-0.246000	0.09611	-0.797000	0.03246	AAG		PASS	0.468	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2	NM_144775		6	84	6	84	---	---	---	---
MYCBPAP	84073	broad.mit.edu	37	17	48602368	48602368	+	Missense_Mutation	SNP	G	G	A	rs149888826		TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr17:48602368G>A	ENST00000323776.5	+	13	2057	c.1895G>A	c.(1894-1896)cGg>cAg	p.R632Q	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.R595Q	NM_032133.4	NP_115509.4			MYCBP associated protein									p.R595Q(1)|p.R632Q(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			GACTTGTTCCGGCACAGAAAT	0.652																																						uc010wmr.1																			2	Substitution - Missense(2)		lung(2)	urinary_tract(2)|skin(2)|ovary(1)|pancreas(1)	6						c.(1894-1896)CGG>CAG		Myc-binding protein-associated protein		G	GLN/ARG	0,4406		0,0,2203	59.0	59.0	59.0		1895	-4.5	0.0	17	dbSNP_134	59	1,8599	1.2+/-3.3	0,1,4299	no	missense	MYCBPAP	NM_032133.4	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	632/985	48602368	1,13005	2203	4300	6503	SO:0001583	missense	84073				cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding	g.chr17:48602368G>A	BC028393	CCDS32680.2	17q21.33	2004-02-19			ENSG00000136449	ENSG00000136449			19677	protein-coding gene	gene with protein product		609835				12151104	Standard	NM_032133		Approved	AMAP-1, DKFZp434N1415	uc010wmr.2	Q8TBZ2	OTTHUMG00000157184	ENST00000323776.5:c.1895G>A	17.37:g.48602368G>A	ENSP00000323184:p.Arg632Gln					MYCBPAP_uc002iqz.2_RNA	p.R632Q	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.23e-09)		13	2057	+	Breast(11;1.23e-18)		595						Missense_Mutation	SNP	ENST00000323776.5	37	c.1895G>A	CCDS32680.2	.	.	.	.	.	.	.	.	.	.	G	5.677	0.309442	0.10733	0.0	1.16E-4	ENSG00000136449	ENST00000323776;ENST00000436259	T;T	0.41400	1.0;1.0	5.88	-4.5	0.03493	.	1.739050	0.02331	N	0.073946	T	0.21387	0.0515	N	0.22421	0.69	0.09310	N	1	P	0.34955	0.477	B	0.26094	0.066	T	0.08166	-1.0735	10	0.17832	T	0.49	-0.0947	4.6069	0.12382	0.4448:0.0963:0.3648:0.0941	.	595	Q8TBZ2	MYBPP_HUMAN	Q	632;595	ENSP00000323184:R632Q;ENSP00000397209:R595Q	ENSP00000323184:R632Q	R	+	2	0	MYCBPAP	45957367	0.000000	0.05858	0.001000	0.08648	0.030000	0.12068	-0.380000	0.07427	-0.635000	0.05531	-1.097000	0.02148	CGG		PASS	0.652	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347814.1	NM_032133		4	95	4	95	---	---	---	---
PRKCA	5578	broad.mit.edu	37	17	64637581	64637581	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr17:64637581G>A	ENST00000413366.3	+	4	423	c.397G>A	c.(397-399)Gac>Aac	p.D133N	RNA5SP445_ENST00000515889.1_RNA	NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	133					activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|chondrocyte differentiation (GO:0002062)|desmosome assembly (GO:0002159)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|histone H3-T6 phosphorylation (GO:0035408)|inactivation of MAPK activity (GO:0000188)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA metabolic process (GO:0016071)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|peptidyl-serine autophosphorylation (GO:0036289)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of dense core granule biogenesis (GO:2000707)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of muscle contraction (GO:0006937)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of the force of heart contraction (GO:0002026)|response to interleukin-1 (GO:0070555)|rhodopsin mediated signaling pathway (GO:0016056)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|enzyme binding (GO:0019899)|histone kinase activity (H3-T6 specific) (GO:0035403)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|zinc ion binding (GO:0008270)	p.D133N(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Ingenol Mebutate(DB05013)|Phosphatidylserine(DB00144)|Tamoxifen(DB00675)|Vitamin E(DB00163)	GATGAAATGTGACAGTAAGTA	0.463																																						uc002jfp.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|large_intestine(1)|stomach(1)|lung(1)|breast(1)|ovary(1)	9						c.(397-399)GAC>AAC		protein kinase C, alpha	Phosphatidylserine(DB00144)|Vitamin E(DB00163)						137.0	118.0	124.0					17																	64637581		2203	4300	6503	SO:0001583	missense	5578				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding	g.chr17:64637581G>A		CCDS11664.1	17q22-q24	2009-07-10				ENSG00000154229	2.7.11.1		9393	protein-coding gene	gene with protein product		176960		PKCA			Standard	NM_002737		Approved		uc002jfp.1	P17252		ENST00000413366.3:c.397G>A	17.37:g.64637581G>A	ENSP00000408695:p.Asp133Asn					PRKCA_uc002jfo.1_Missense_Mutation_p.D4N	p.D133N	NM_002737	NP_002728	P17252	KPCA_HUMAN	BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		4	441	+			133			Phorbol-ester/DAG-type 2.		B5BU22|Q15137|Q32M72|Q96RE4	Missense_Mutation	SNP	ENST00000413366.3	37	c.397G>A	CCDS11664.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.111848	0.77210	.	.	ENSG00000154229	ENST00000413366;ENST00000284384	D	0.93133	-3.17	5.92	5.92	0.95590	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.000000	0.85682	D	0.000000	D	0.92097	0.7495	L	0.51914	1.62	0.80722	D	1	B;B	0.30741	0.034;0.293	B;B	0.32583	0.04;0.148	D	0.89423	0.3711	10	0.42905	T	0.14	.	19.9311	0.97118	0.0:0.0:1.0:0.0	.	133;44	P17252;Q59FI5	KPCA_HUMAN;.	N	133;40	ENSP00000408695:D133N	ENSP00000284384:D40N	D	+	1	0	PRKCA	62068043	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.145000	0.71769	2.813000	0.96785	0.561000	0.74099	GAC		PASS	0.463	PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446976.1			6	120	6	120	---	---	---	---
CTAGE1	64693	broad.mit.edu	37	18	19997382	19997382	+	5'Flank	SNP	T	T	G			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr18:19997382T>G	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Missense_Mutation_p.E131D			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)		p.E131D(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					ATTCATTTTGTTCAGAATGTT	0.373																																						uc002ktv.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(391-393)GAA>GAC		cutaneous T-cell lymphoma-associated antigen 1							96.0	107.0	104.0					18																	19997382		2187	4291	6478	SO:0001631	upstream_gene_variant	64693					integral to membrane		g.chr18:19997382T>G	AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma-associated antigen 1"", ""cutaneous T-cell lymphoma-associated antigen 2"", ""cancer/testis antigen family 21, member 1"", ""cancer/testis antigen family 21, member 2"""	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19997382T>G	Exception_encountered						p.E131D	NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN			1	497	-	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)		131			Potential.		B0YIZ3	Missense_Mutation	SNP	ENST00000525417.1	37	c.393A>C		.	.	.	.	.	.	.	.	.	.	T	11.84	1.757882	0.31137	.	.	ENSG00000212710	ENST00000391403	T	0.38560	1.13	0.949	0.949	0.19566	.	.	.	.	.	T	0.47967	0.1474	M	0.72894	2.215	0.09310	N	1	D	0.58268	0.982	P	0.53185	0.72	T	0.34403	-0.9830	8	.	.	.	.	4.1182	0.10092	0.0:0.0:0.0:1.0	.	131	Q96RT6	CTGE2_HUMAN	D	131	ENSP00000375220:E131D	.	E	-	3	2	CTAGE1	18251380	0.052000	0.20516	0.034000	0.17996	0.487000	0.33371	0.477000	0.22196	0.652000	0.30806	0.374000	0.22700	GAA		PASS	0.373	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000386767.1	NM_022663, NM_172241		11	323	11	323	---	---	---	---
MEP1B	4225	broad.mit.edu	37	18	29800198	29800198	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr18:29800198A>G	ENST00000269202.6	+	15	2143	c.2096A>G	c.(2095-2097)cAt>cGt	p.H699R	MEP1B_ENST00000581447.1_Splice_Site_p.H698R	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	699					digestion (GO:0007586)|inflammatory response (GO:0006954)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.H699R(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TTTTAGCAGCATGCTTTTTGA	0.303																																						uc002kxj.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2095-2097)CAT>CGT		meprin A beta precursor							76.0	67.0	70.0					18																	29800198		1821	4082	5903	SO:0001583	missense	4225				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr18:29800198A>G	X81333	CCDS45846.1	18q12.2-q12.3	2003-12-17				ENSG00000141434	3.4.24.18		7020	protein-coding gene	gene with protein product		600389				7774936	Standard	NM_005925		Approved		uc002kxj.4	Q16820		ENST00000269202.6:c.2096A>G	18.37:g.29800198A>G	ENSP00000269202:p.His699Arg						p.H699R	NM_005925	NP_005916	Q16820	MEP1B_HUMAN			15	2143	+			699			Cytoplasmic (Potential).		B7ZM35|B9EGL6|Q670J1	Missense_Mutation	SNP	ENST00000269202.6	37	c.2096A>G	CCDS45846.1	.	.	.	.	.	.	.	.	.	.	A	4.400	0.073887	0.08485	.	.	ENSG00000141434	ENST00000269202	T	0.18657	2.2	5.74	4.58	0.56647	.	0.995724	0.08145	N	0.990966	T	0.20007	0.0481	L	0.40543	1.245	0.09310	N	1	B	0.20887	0.049	B	0.14578	0.011	T	0.23619	-1.0183	10	0.66056	D	0.02	-0.8511	8.3485	0.32288	0.9111:0.0:0.0888:0.0	.	699	Q16820	MEP1B_HUMAN	R	699	ENSP00000269202:H699R	ENSP00000269202:H699R	H	+	2	0	MEP1B	28054196	0.012000	0.17670	0.002000	0.10522	0.062000	0.15995	2.694000	0.47035	1.008000	0.39264	0.533000	0.62120	CAT		PASS	0.303	MEP1B-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447755.1	NM_005925		9	19	9	19	---	---	---	---
WDR7	23335	broad.mit.edu	37	18	54398814	54398814	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr18:54398814G>C	ENST00000254442.3	+	14	2186	c.1975G>C	c.(1975-1977)Gag>Cag	p.E659Q	WDR7_ENST00000357574.3_Missense_Mutation_p.E659Q|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	659					hematopoietic progenitor cell differentiation (GO:0002244)			p.E659Q(1)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		CTTGGCTTCTGAGGCATCTGA	0.398																																						uc002lgk.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1975-1977)GAG>CAG		rabconnectin-3 beta isoform 1							114.0	99.0	104.0					18																	54398814		2203	4300	6503	SO:0001583	missense	23335							g.chr18:54398814G>C	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.1975G>C	18.37:g.54398814G>C	ENSP00000254442:p.Glu659Gln					WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Missense_Mutation_p.E659Q	p.E659Q	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	14	2186	+			659					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	c.1975G>C	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.157833	0.38119	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	T;T	0.66638	-0.22;-0.21	5.26	5.26	0.73747	.	0.104661	0.64402	D	0.000004	T	0.46288	0.1385	N	0.03608	-0.345	0.58432	D	0.999998	B;B	0.31383	0.088;0.321	B;B	0.34180	0.102;0.177	T	0.46596	-0.9180	10	0.14656	T	0.56	.	18.4669	0.90758	0.0:0.0:1.0:0.0	.	659;659	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	Q	659	ENSP00000254442:E659Q;ENSP00000350187:E659Q	ENSP00000254442:E659Q	E	+	1	0	WDR7	52549812	1.000000	0.71417	0.991000	0.47740	0.978000	0.69477	9.542000	0.98086	2.463000	0.83235	0.563000	0.77884	GAG		PASS	0.398	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			14	181	14	181	---	---	---	---
TMX3	54495	broad.mit.edu	37	18	66367644	66367644	+	Silent	SNP	A	A	G			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr18:66367644A>G	ENST00000299608.2	-	6	706	c.390T>C	c.(388-390)tcT>tcC	p.S130S	TMX3_ENST00000562706.1_Silent_p.S130S|TMX3_ENST00000443099.2_Intron	NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	130					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)	p.S130S(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						TAACTTACCCAGATACTCTGT	0.254																																						uc002lkf.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(388-390)TCT>TCC		thioredoxin domain containing 10 precursor							86.0	92.0	90.0					18																	66367644		2203	4286	6489	SO:0001819	synonymous_variant	54495				cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr18:66367644A>G	BX647846	CCDS32840.1	18q22	2011-10-19	2009-02-23	2009-02-23		ENSG00000166479		"""Protein disulfide isomerases"""	24718	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 13"""		"""thioredoxin domain containing 10"""	TXNDC10		15623505	Standard	NM_019022		Approved	FLJ20793, KIAA1830, PDIA13	uc002lkf.3	Q96JJ7		ENST00000299608.2:c.390T>C	18.37:g.66367644A>G						TMX3_uc010xez.1_5'UTR|TMX3_uc010xfa.1_Intron|TMX3_uc002lkg.3_Silent_p.S130S	p.S130S	NM_019022	NP_061895	Q96JJ7	TMX3_HUMAN			6	525	-			130			Lumenal (Potential).		B3KV75|Q52LT7|Q8N5J0|Q9NWJ9	Silent	SNP	ENST00000299608.2	37	c.390T>C	CCDS32840.1																																																																																				PASS	0.254	TMX3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420155.1	NM_019022		20	211	20	211	---	---	---	---
NETO1	81832	broad.mit.edu	37	18	70417473	70417473	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr18:70417473C>A	ENST00000327305.6	-	9	2022	c.1365G>T	c.(1363-1365)ttG>ttT	p.L455F	RNA5SP460_ENST00000516789.1_RNA|NETO1_ENST00000583169.1_Missense_Mutation_p.L455F|NETO1_ENST00000299430.2_Missense_Mutation_p.L454F	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	455					memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)		p.L455F(1)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GCATCTCTGTCAAGATAGAAG	0.488																																						uc002lkw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(1363-1365)TTG>TTT		neuropilin- and tolloid-like protein 1 isoform 3							196.0	174.0	182.0					18																	70417473		2203	4300	6503	SO:0001583	missense	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70417473C>A	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.1365G>T	18.37:g.70417473C>A	ENSP00000313088:p.Leu455Phe					NETO1_uc002lkx.1_Missense_Mutation_p.L454F|NETO1_uc002lky.1_Missense_Mutation_p.L455F	p.L455F	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	9	1649	-		Esophageal squamous(42;0.129)	455			Cytoplasmic (Potential).		Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	37	c.1365G>T	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	C	11.92	1.781680	0.31502	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.23348	1.91;1.91	5.76	3.96	0.45880	.	0.000000	0.47852	D	0.000204	T	0.41627	0.1167	L	0.54323	1.7	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.991	T	0.17167	-1.0378	10	0.56958	D	0.05	-17.7638	7.7056	0.28648	0.0:0.7236:0.1357:0.1407	.	454;455	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	F	455;454	ENSP00000313088:L455F;ENSP00000299430:L454F	ENSP00000299430:L454F	L	-	3	2	NETO1	68568453	1.000000	0.71417	0.084000	0.20598	0.983000	0.72400	2.424000	0.44714	0.761000	0.33130	0.460000	0.39030	TTG		PASS	0.488	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		24	87	24	87	---	---	---	---
FBXO15	201456	broad.mit.edu	37	18	71797764	71797764	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr18:71797764C>A	ENST00000419743.2	-	4	541	c.462G>T	c.(460-462)tgG>tgT	p.W154C	FBXO15_ENST00000269500.5_Missense_Mutation_p.W78C	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	154						SCF ubiquitin ligase complex (GO:0019005)		p.W78C(1)|p.W154C(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		ATTCTTTCTTCCAATAACCAG	0.378																																						uc002lle.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)	3						c.(232-234)TGG>TGT		F-box protein 15 isoform 1							130.0	127.0	128.0					18																	71797764		2203	4300	6503	SO:0001583	missense	201456							g.chr18:71797764C>A	AK094215	CCDS45884.1	18q22.3	2006-03-09	2004-06-15		ENSG00000141665	ENSG00000141665		"""F-boxes /  ""other"""""	13617	protein-coding gene	gene with protein product		609093	"""F-box only protein 15"""			12665572	Standard	NM_152676		Approved	MGC39671, FBX15	uc002llf.2	Q8NCQ5	OTTHUMG00000132842	ENST00000419743.2:c.462G>T	18.37:g.71797764C>A	ENSP00000393154:p.Trp154Cys					FBXO15_uc002llf.2_Missense_Mutation_p.W154C	p.W78C	NM_152676	NP_689889	Q8NCQ5	FBX15_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.143)	4	570	-		Esophageal squamous(42;0.103)|Prostate(75;0.173)	78					B3KST3	Missense_Mutation	SNP	ENST00000419743.2	37	c.234G>T	CCDS45884.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.714182	0.30413	.	.	ENSG00000141665	ENST00000269500;ENST00000419743	T;T	0.27104	1.69;1.69	5.36	5.36	0.76844	F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	T	0.53465	0.1798	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.56932	-0.7897	10	0.87932	D	0	-20.4542	17.8554	0.88761	0.0:1.0:0.0:0.0	.	154;78	B3KST3;Q8NCQ5	.;FBX15_HUMAN	C	78;154	ENSP00000269500:W78C;ENSP00000393154:W154C	ENSP00000269500:W78C	W	-	3	0	FBXO15	69948744	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.264000	0.65513	2.530000	0.85305	0.650000	0.86243	TGG		PASS	0.378	FBXO15-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000444223.1	NM_152676		5	126	5	126	---	---	---	---
ZNF407	55628	broad.mit.edu	37	18	72345581	72345581	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr18:72345581T>G	ENST00000299687.5	+	1	2606	c.2606T>G	c.(2605-2607)aTt>aGt	p.I869S	ZNF407_ENST00000309902.6_Missense_Mutation_p.I869S|ZNF407_ENST00000582337.1_Missense_Mutation_p.I869S|ZNF407_ENST00000577538.1_Missense_Mutation_p.I869S	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	869					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.I869S(2)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		ACTGTTCACATTAGACGAAAA	0.413																																						uc002llw.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(2605-2607)ATT>AGT		zinc finger protein 407 isoform 1							84.0	82.0	83.0					18																	72345581		1926	4134	6060	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72345581T>G	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.2606T>G	18.37:g.72345581T>G	ENSP00000299687:p.Ile869Ser					ZNF407_uc010xfc.1_Missense_Mutation_p.I869S|ZNF407_uc010dqu.1_Missense_Mutation_p.I869S|ZNF407_uc002llu.2_Missense_Mutation_p.I868S	p.I869S	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	2663	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	869			C2H2-type 8.		B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.2606T>G	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.038279	0.75617	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.29142	1.58;1.58	5.63	5.63	0.86233	Zinc finger, C2H2-like (1);	1.304430	0.05274	N	0.518100	T	0.58524	0.2128	L	0.52905	1.665	0.37072	D	0.898576	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.992;0.982	T	0.05784	-1.0864	10	0.87932	D	0	.	15.8371	0.78808	0.0:0.0:0.0:1.0	.	869;869;869	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	S	869	ENSP00000299687:I869S;ENSP00000310359:I869S	ENSP00000299687:I869S	I	+	2	0	ZNF407	70474569	1.000000	0.71417	0.861000	0.33841	0.998000	0.95712	7.698000	0.84413	-0.400000	0.07656	0.455000	0.32223	ATT		PASS	0.413	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		39	121	39	121	---	---	---	---
ZBTB7A	51341	broad.mit.edu	37	19	4054023	4054023	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr19:4054023G>T	ENST00000322357.4	-	2	1486	c.1208C>A	c.(1207-1209)aCc>aAc	p.T403N	ZBTB7A_ENST00000601588.1_Missense_Mutation_p.T403N	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	403					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)	p.T403N(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCGTGTGGGTGCGGATGTG	0.657																																						uc002lzh.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(1207-1209)ACC>AAC		zinc finger and BTB domain containing 7A							60.0	56.0	57.0					19																	4054023		2203	4300	6503	SO:0001583	missense	51341				cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding	g.chr19:4054023G>T	AF000561	CCDS12119.1	19p13.3	2013-01-08		2005-04-07		ENSG00000178951		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18078	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 7A, HIV-1 inducer of short transcripts binding protein"", ""lymphoma related factor"""	605878	"""zinc finger and BTB domain containing 7"""	ZBTB7		9973611, 9927193	Standard	NM_015898		Approved	FBI-1, LRF, DKFZp547O146, pokemon, ZNF857A	uc002lzi.3	O95365		ENST00000322357.4:c.1208C>A	19.37:g.4054023G>T	ENSP00000323670:p.Thr403Asn					ZBTB7A_uc002lzi.2_Missense_Mutation_p.T403N	p.T403N	NM_015898	NP_056982	O95365	ZBT7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)	2	1283	-		Hepatocellular(1079;0.137)	403			C2H2-type 1.		D6W619|O00456|Q14D41|Q5XG86	Missense_Mutation	SNP	ENST00000322357.4	37	c.1208C>A	CCDS12119.1	.	.	.	.	.	.	.	.	.	.	G	13.91	2.377497	0.42105	.	.	ENSG00000178951	ENST00000322357	T	0.12774	2.65	5.03	3.99	0.46301	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.29389	0.0732	L	0.49640	1.575	0.41542	D	0.988521	D	0.76494	0.999	D	0.71656	0.974	T	0.02275	-1.1184	10	0.72032	D	0.01	.	12.4922	0.55907	0.0836:0.0:0.9164:0.0	.	403	O95365	ZBT7A_HUMAN	N	403	ENSP00000323670:T403N	ENSP00000323670:T403N	T	-	2	0	ZBTB7A	4005023	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	6.515000	0.73751	1.111000	0.41721	0.462000	0.41574	ACC		PASS	0.657	ZBTB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457621.2	NM_015898		7	35	7	35	---	---	---	---
HOOK2	29911	broad.mit.edu	37	19	12881986	12881986	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr19:12881986C>A	ENST00000397668.3	-	9	821	c.748G>T	c.(748-750)Gag>Tag	p.E250*	HOOK2_ENST00000264827.5_Nonsense_Mutation_p.E250*|HOOK2_ENST00000589965.1_Intron	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	250	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	centrosome (GO:0005813)|FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)	p.E250*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						AAGTTCTCCTCCTGCAACTGC	0.672																																						uc002muy.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(748-750)GAG>TAG		hook homolog 2 isoform 1							23.0	29.0	27.0					19																	12881986		2044	4214	6258	SO:0001587	stop_gained	29911				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding	g.chr19:12881986C>A	AF044924	CCDS42507.1, CCDS42508.1	19p13.2	2013-08-21	2013-08-21						19885	protein-coding gene	gene with protein product		607824	"""hook homolog 2 (Drosophila)"""			9927460	Standard	NM_013312		Approved	HK2	uc002muy.2	Q96ED9		ENST00000397668.3:c.748G>T	19.37:g.12881986C>A	ENSP00000380785:p.Glu250*					HOOK2_uc002muz.2_Nonsense_Mutation_p.E250*	p.E250*	NM_013312	NP_037444	Q96ED9	HOOK2_HUMAN			9	919	-			250			Sufficient for interaction with microtubules.|Potential.		O60562	Nonsense_Mutation	SNP	ENST00000397668.3	37	c.748G>T	CCDS42508.1	.	.	.	.	.	.	.	.	.	.	c	37	6.342869	0.97489	.	.	ENSG00000095066	ENST00000397668;ENST00000264827	.	.	.	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-23.952	16.84	0.85966	0.0:1.0:0.0:0.0	.	.	.	.	X	250	.	ENSP00000264827:E250X	E	-	1	0	HOOK2	12742986	1.000000	0.71417	1.000000	0.80357	0.539000	0.34962	4.410000	0.59774	2.277000	0.76020	0.450000	0.29827	GAG		PASS	0.672	HOOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451008.1	NM_013312		9	11	9	11	---	---	---	---
TMEM161A	54929	broad.mit.edu	37	19	19231853	19231853	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr19:19231853T>A	ENST00000162044.9	-	10	1101	c.1037A>T	c.(1036-1038)gAg>gTg	p.E346V	TMEM161A_ENST00000450333.2_Missense_Mutation_p.E243V|TMEM161A_ENST00000587583.2_Missense_Mutation_p.E321V	NM_017814.2	NP_060284.1	Q9NX61	T161A_HUMAN	transmembrane protein 161A	346					cellular response to oxidative stress (GO:0034599)|cellular response to UV (GO:0034644)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of DNA repair (GO:0045739)|response to retinoic acid (GO:0032526)	integral component of membrane (GO:0016021)		p.E346V(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			TCGCAGCTGCTCCACCCGGGC	0.692																																						uc002nlg.2																			1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(1036-1038)GAG>GTG		transmembrane protein 161A precursor							25.0	31.0	29.0					19																	19231853		2198	4294	6492	SO:0001583	missense	54929				cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid	integral to membrane		g.chr19:19231853T>A	BC005210	CCDS12393.1, CCDS58656.1	19p13.11	2008-02-05				ENSG00000064545			26020	protein-coding gene	gene with protein product						12975309	Standard	NM_017814		Approved	FLJ39645, FLJ20422	uc002nlg.4	Q9NX61		ENST00000162044.9:c.1037A>T	19.37:g.19231853T>A	ENSP00000162044:p.Glu346Val					TMEM161A_uc010eca.2_RNA|TMEM161A_uc002nlh.2_Missense_Mutation_p.E321V|TMEM161A_uc002nli.2_Missense_Mutation_p.E243V|TMEM161A_uc002nlj.2_Missense_Mutation_p.E221V	p.E346V	NM_017814	NP_060284	Q9NX61	T161A_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)		10	1067	-			346			Extracellular (Potential).		B3KUE0|G5E9M6|Q7L2Y1	Missense_Mutation	SNP	ENST00000162044.9	37	c.1037A>T	CCDS12393.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.216379	0.79352	.	.	ENSG00000064545	ENST00000450333;ENST00000162044	.	.	.	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.78110	0.4232	M	0.79258	2.445	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.998;0.999;0.998	T	0.80303	-0.1439	9	0.56958	D	0.05	-28.8061	12.64	0.56705	0.0:0.0:0.0:1.0	.	243;243;346	G5E9M6;B3KUE0;Q9NX61	.;.;T161A_HUMAN	V	243;346	.	ENSP00000162044:E346V	E	-	2	0	TMEM161A	19092853	1.000000	0.71417	1.000000	0.80357	0.639000	0.38242	5.448000	0.66612	1.895000	0.54865	0.482000	0.46254	GAG		PASS	0.692	TMEM161A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460089.2	NM_017814		14	23	14	23	---	---	---	---
ZNF569	148266	broad.mit.edu	37	19	37903707	37903707	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr19:37903707C>T	ENST00000316950.6	-	6	2410	c.1853G>A	c.(1852-1854)aGc>aAc	p.S618N	ZNF569_ENST00000392150.2_Missense_Mutation_p.S459N|ZNF569_ENST00000392149.2_Missense_Mutation_p.S618N	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	618					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.S618N(1)		breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAGGGATGAGCTTTGGGAGAA	0.408																																						uc002ogi.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|skin(1)	3						c.(1852-1854)AGC>AAC		zinc finger protein 569							121.0	118.0	119.0					19																	37903707		2203	4300	6503	SO:0001583	missense	148266				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37903707C>T	AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"""Zinc fingers, C2H2-type"", ""-"""	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.1853G>A	19.37:g.37903707C>T	ENSP00000325018:p.Ser618Asn					ZNF569_uc002ogh.2_Missense_Mutation_p.S459N|ZNF569_uc002ogj.2_Missense_Mutation_p.S642N	p.S618N	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	2411	-			618			C2H2-type 16.		A8K1S2|Q15925|Q17RR6|Q96MQ2	Missense_Mutation	SNP	ENST00000316950.6	37	c.1853G>A	CCDS12503.1	.	.	.	.	.	.	.	.	.	.	C	9.983	1.228578	0.22542	.	.	ENSG00000196437	ENST00000316950;ENST00000392149;ENST00000392150	T;T	0.10477	2.87;2.87	3.97	2.91	0.33838	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15132	0.0365	L	0.32530	0.975	0.09310	N	1	B;D	0.54601	0.396;0.967	B;P	0.60682	0.073;0.878	T	0.10965	-1.0607	9	0.11182	T	0.66	.	8.9975	0.36061	0.2213:0.7787:0.0:0.0	.	459;618	Q17RR6;Q5MCW4	.;ZN569_HUMAN	N	618;274;459	ENSP00000325018:S618N;ENSP00000375993:S459N	ENSP00000325018:S618N	S	-	2	0	ZNF569	42595547	0.000000	0.05858	0.058000	0.19502	0.969000	0.65631	0.044000	0.13992	0.981000	0.38548	0.563000	0.77884	AGC		PASS	0.408	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	NM_152484		91	227	91	227	---	---	---	---
ZNF540	163255	broad.mit.edu	37	19	38102891	38102891	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr19:38102891A>G	ENST00000592533.1	+	5	1042	c.710A>G	c.(709-711)cAt>cGt	p.H237R	ZNF540_ENST00000589117.1_Missense_Mutation_p.H205R|ZNF540_ENST00000343599.5_Missense_Mutation_p.H237R|ZNF540_ENST00000316433.4_Missense_Mutation_p.H237R	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	237					negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation repressor activity, nucleic acid binding (GO:0000900)	p.H237R(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAGAGATTTCATACTGGTGAG	0.368																																						uc002ogq.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(709-711)CAT>CGT		zinc finger protein 540							42.0	42.0	42.0					19																	38102891		2203	4298	6501	SO:0001583	missense	163255				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38102891A>G	AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817		"""Zinc fingers, C2H2-type"", ""-"""	25331	protein-coding gene	gene with protein product		613903					Standard	NM_152606		Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6		ENST00000592533.1:c.710A>G	19.37:g.38102891A>G	ENSP00000466274:p.His237Arg					ZNF540_uc002ogu.2_Missense_Mutation_p.H237R|ZNF540_uc010efq.2_Missense_Mutation_p.H205R	p.H237R	NM_152606	NP_689819	Q8NDQ6	ZN540_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1042	+			237			C2H2-type 2.		A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	Missense_Mutation	SNP	ENST00000592533.1	37	c.710A>G	CCDS12506.1	.	.	.	.	.	.	.	.	.	.	A	17.36	3.371012	0.61624	.	.	ENSG00000171817	ENST00000316433;ENST00000343599	D;D	0.88975	-2.45;-2.18	2.39	1.34	0.21922	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.92371	0.7579	M	0.85373	2.75	0.25432	N	0.988171	D;D	0.71674	0.997;0.998	P;P	0.60117	0.84;0.869	D	0.83427	0.0036	9	0.87932	D	0	.	5.4114	0.16351	0.8433:0.0:0.1567:0.0	.	205;237	Q8NDQ6-2;Q8NDQ6	.;ZN540_HUMAN	R	237;205	ENSP00000324598:H237R;ENSP00000343768:H205R	ENSP00000324598:H237R	H	+	2	0	ZNF540	42794731	0.700000	0.27796	0.002000	0.10522	0.704000	0.40688	3.780000	0.55386	0.172000	0.19760	0.260000	0.18958	CAT		PASS	0.368	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459481.1	NM_152606		6	122	6	122	---	---	---	---
CEACAM21	90273	broad.mit.edu	37	19	42083652	42083652	+	Silent	SNP	G	G	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr19:42083652G>A	ENST00000401445.2	+	2	191	c.165G>A	c.(163-165)gtG>gtA	p.V55V	CEACAM21_ENST00000407170.2_5'UTR|CEACAM21_ENST00000482870.2_3'UTR|CEACAM21_ENST00000187608.9_Silent_p.V55V			Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 21	55						integral component of membrane (GO:0016021)		p.V55V(2)		endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						ATCTCTCTGTGGTTTATCTGC	0.478																																						uc002ore.3																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(163-165)GTG>GTA		carcinoembryonic antigen-related cell adhesion							80.0	79.0	80.0					19																	42083652		2002	4195	6197	SO:0001819	synonymous_variant	90273					integral to membrane		g.chr19:42083652G>A	AK023602	CCDS46086.1, CCDS46087.1, CCDS74373.1	19q13.2	2013-01-29			ENSG00000007129	ENSG00000007129		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28834	protein-coding gene	gene with protein product						12477932	Standard	XM_005278397		Approved	R29124_1, FLJ13540	uc002ore.4	Q3KPI0	OTTHUMG00000151062	ENST00000401445.2:c.165G>A	19.37:g.42083652G>A						CEACAM21_uc002orc.1_RNA|CEACAM21_uc002ord.1_RNA|CEACAM21_uc002orf.2_RNA|CEACAM21_uc002org.3_Silent_p.V55V	p.V55V	NM_001098506	NP_001091976	Q3KPI0	CEA21_HUMAN			2	261	+			55			Extracellular (Potential).		B7WNQ6|O75296|Q6UY47|Q96ER7	Silent	SNP	ENST00000401445.2	37	c.165G>A	CCDS46086.1																																																																																				PASS	0.478	CEACAM21-005	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321140.1	NM_033543		30	70	30	70	---	---	---	---
ATP1A3	478	broad.mit.edu	37	19	42480657	42480657	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr19:42480657C>T	ENST00000302102.5	-	15	2155	c.2005G>A	c.(2005-2007)Gac>Aac	p.D669N	ATP1A3_ENST00000543770.1_Missense_Mutation_p.D680N|ATP1A3_ENST00000545399.1_Missense_Mutation_p.D682N|ATP1A3_ENST00000602133.1_Missense_Mutation_p.D639N	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	669					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.D669N(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						AGGATCTCGTCGATTTGCTCG	0.607																																						uc002osg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(2005-2007)GAC>AAC		Na+/K+ -ATPase alpha 3 subunit							197.0	146.0	163.0					19																	42480657		2203	4300	6503	SO:0001583	missense	478				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr19:42480657C>T		CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"""ATPases / P-type"""	801	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-3"", ""sodium pump subunit alpha-3"", ""sodium-potassium ATPase catalytic subunit alpha-3"""	182350	"""dystonia 12"""	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.2005G>A	19.37:g.42480657C>T	ENSP00000302397:p.Asp669Asn					ATP1A3_uc010xwf.1_Missense_Mutation_p.D680N|ATP1A3_uc010xwg.1_Missense_Mutation_p.D639N|ATP1A3_uc010xwh.1_Missense_Mutation_p.D682N|ATP1A3_uc002osh.2_Missense_Mutation_p.D669N	p.D669N	NM_152296	NP_689509	P13637	AT1A3_HUMAN			15	2159	-			669			Cytoplasmic (Potential).		B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	ENST00000302102.5	37	c.2005G>A	CCDS12594.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898628	0.72639	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000535899;ENST00000543770	D;D;D;D	0.95307	-3.57;-3.67;-3.57;-3.57	4.07	4.07	0.47477	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.96703	0.8924	M	0.78049	2.395	0.80722	D	1	D;D;D;D	0.67145	0.983;0.987;0.996;0.99	P;P;D;D	0.70487	0.59;0.881;0.969;0.928	D	0.97105	0.9800	10	0.87932	D	0	.	14.1771	0.65549	0.0:1.0:0.0:0.0	.	682;680;669;669	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	N	669;669;682;639;413;680	ENSP00000302397:D669N;ENSP00000411503:D669N;ENSP00000444688:D682N;ENSP00000437577:D680N	ENSP00000302397:D669N	D	-	1	0	ATP1A3	47172497	1.000000	0.71417	0.843000	0.33291	0.222000	0.24845	7.638000	0.83328	2.288000	0.76882	0.561000	0.74099	GAC		PASS	0.607	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296		37	93	37	93	---	---	---	---
CCDC61	729440	broad.mit.edu	37	19	46498682	46498682	+	5'Flank	SNP	G	G	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr19:46498682G>A	ENST00000595358.1	+	0	0				CCDC61_ENST00000536603.1_5'Flank|CCDC61_ENST00000263284.2_Splice_Site	NM_001267723.1	NP_001254652.1	Q9Y6R9	CCD61_HUMAN	coiled-coil domain containing 61							centrosome (GO:0005813)		p.?(1)		endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)		TGACCAATCAGAAGCGAGAAC	0.602																																						uc002pdw.2																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e2-1		coiled-coil domain containing 61							22.0	25.0	24.0					19																	46498682		1865	4110	5975	SO:0001631	upstream_gene_variant	729440							g.chr19:46498682G>A		CCDS46120.1, CCDS46120.2	19q13.32	2014-09-04			ENSG00000104983	ENSG00000104983			33629	protein-coding gene	gene with protein product							Standard	NM_001267723		Approved		uc031rlj.1	Q9Y6R9	OTTHUMG00000182488		19.37:g.46498682G>A	Exception_encountered						p.R27_splice	NM_001080402	NP_001073871				OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)	2	81	+		all_neural(266;0.113)|Ovarian(192;0.127)						C8CAP4|Q9HDB6	Splice_Site	SNP	ENST00000595358.1	37	c.81_splice	CCDS46120.2	.	.	.	.	.	.	.	.	.	.	G	1.901	-0.452994	0.04540	.	.	ENSG00000104983	ENST00000263284	.	.	.	4.74	-0.0517	0.13825	.	.	.	.	.	.	.	.	.	.	.	0.29060	N	0.883949	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.5361	0.02545	0.1887:0.1672:0.4717:0.1724	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC61	51190522	0.140000	0.22579	0.163000	0.22734	0.035000	0.12851	-0.226000	0.09139	0.020000	0.15106	0.558000	0.71614	.		PASS	0.602	CCDC61-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461689.1	NM_001080402		3	12	3	12	---	---	---	---
PRKD2	25865	broad.mit.edu	37	19	47193887	47193887	+	Missense_Mutation	SNP	G	G	T	rs552901938		TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr19:47193887G>T	ENST00000291281.4	-	13	2004	c.1779C>A	c.(1777-1779)agC>agA	p.S593R	PRKD2_ENST00000595515.1_Missense_Mutation_p.S593R|PRKD2_ENST00000600194.1_Missense_Mutation_p.S436R|RN7SL364P_ENST00000473668.2_RNA|PRKD2_ENST00000433867.1_Missense_Mutation_p.S593R|PRKD2_ENST00000601806.1_Missense_Mutation_p.S436R			Q9BZL6	KPCD2_HUMAN	protein kinase D2	593	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.S593R(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		TCCGGAGCTGGCTCTCCTGCT	0.567																																						uc002pfh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)	7						c.(1777-1779)AGC>AGA		protein kinase D2 isoform A							129.0	111.0	117.0					19																	47193887		2203	4300	6503	SO:0001583	missense	25865				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity	g.chr19:47193887G>T	AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"""Pleckstrin homology (PH) domain containing"""	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.1779C>A	19.37:g.47193887G>T	ENSP00000291281:p.Ser593Arg					PRKD2_uc002pfd.2_5'Flank|PRKD2_uc010eks.2_5'UTR|PRKD2_uc010ekt.2_5'UTR|PRKD2_uc002pfe.2_Missense_Mutation_p.S113R|PRKD2_uc002pff.2_Missense_Mutation_p.S113R|PRKD2_uc002pfg.2_Missense_Mutation_p.S436R|PRKD2_uc002pfi.2_Missense_Mutation_p.S593R|PRKD2_uc002pfj.2_Missense_Mutation_p.S593R|PRKD2_uc010xye.1_Missense_Mutation_p.S593R|PRKD2_uc002pfk.2_Missense_Mutation_p.S436R	p.S593R	NM_001079881	NP_001073350	Q9BZL6	KPCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)	14	2121	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	593			Protein kinase.		Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000291281.4	37	c.1779C>A	CCDS12689.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.769086	0.49680	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	T;T	0.64803	-0.12;-0.12	5.0	2.82	0.32997	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.055362	0.64402	D	0.000002	T	0.44008	0.1273	N	0.11000	0.08	0.39338	D	0.965531	B;B	0.24882	0.113;0.096	B;B	0.36464	0.066;0.225	T	0.25502	-1.0130	10	0.29301	T	0.29	-25.6744	8.4674	0.32964	0.2499:0.0:0.7501:0.0	.	593;593	E7ER94;Q9BZL6	.;KPCD2_HUMAN	R	593	ENSP00000291281:S593R;ENSP00000393978:S593R	ENSP00000291281:S593R	S	-	3	2	PRKD2	51885727	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.954000	0.40362	0.616000	0.30141	0.650000	0.86243	AGC		PASS	0.567	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	NM_016457		30	88	30	88	---	---	---	---
PPFIA3	8541	broad.mit.edu	37	19	49652839	49652839	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr19:49652839G>T	ENST00000334186.4	+	28	3739	c.3390G>T	c.(3388-3390)tgG>tgT	p.W1130C	PPFIA3_ENST00000602351.1_Missense_Mutation_p.W1121C	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	1130					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)		p.W1130C(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		CCCCATCCTGGCGGAAGATGT	0.627																																						uc002pmr.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(3388-3390)TGG>TGT		PTPRF interacting protein alpha 3							39.0	39.0	39.0					19																	49652839		2203	4300	6503	SO:0001583	missense	8541					cell surface|cytoplasm	protein binding	g.chr19:49652839G>T	AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.3390G>T	19.37:g.49652839G>T	ENSP00000335614:p.Trp1130Cys					PPFIA3_uc010yai.1_RNA|PPFIA3_uc002pms.2_Missense_Mutation_p.W989C|PPFIA3_uc002pmt.2_Missense_Mutation_p.W269C|PPFIA3_uc002pmu.1_Missense_Mutation_p.W179C	p.W1130C	NM_003660	NP_003651	O75145	LIPA3_HUMAN		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)	28	3722	+		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	1130					A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Missense_Mutation	SNP	ENST00000334186.4	37	c.3390G>T	CCDS12758.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.290555	0.80914	.	.	ENSG00000177380	ENST00000334186	T	0.23950	1.88	4.12	4.12	0.48240	.	0.000000	0.44902	U	0.000416	T	0.50257	0.1605	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.987;0.998	T	0.56232	-0.8013	10	0.87932	D	0	-13.6679	15.6618	0.77193	0.0:0.0:1.0:0.0	.	1121;1130	O75145-2;O75145	.;LIPA3_HUMAN	C	1130	ENSP00000335614:W1130C	ENSP00000335614:W1130C	W	+	3	0	PPFIA3	54344651	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.412000	0.97347	2.299000	0.77371	0.462000	0.41574	TGG		PASS	0.627	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	NM_003660		3	38	3	38	---	---	---	---
SIGLEC7	27036	broad.mit.edu	37	19	51647820	51647820	+	Silent	SNP	C	C	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr19:51647820C>A	ENST00000317643.6	+	2	660	c.591C>A	c.(589-591)acC>acA	p.T197T	SIGLEC7_ENST00000600577.1_Intron|SIGLEC7_ENST00000305628.7_Intron	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	197	Ig-like C2-type 1.				cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.T197T(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		CCTCCACCACCCGCTCCTCAG	0.662																																						uc002pvv.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(589-591)ACC>ACA		sialic acid binding Ig-like lectin 7 isoform 1							70.0	70.0	70.0					19																	51647820		2203	4300	6503	SO:0001819	synonymous_variant	27036				cell adhesion	integral to plasma membrane	receptor activity|sugar binding	g.chr19:51647820C>A	AF170485	CCDS12826.1, CCDS42601.1, CCDS62771.1	19q13.41	2014-03-20			ENSG00000168995	ENSG00000168995		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10876	protein-coding gene	gene with protein product		604410	"""sialic acid binding Ig-like lectin 19, pseudogene"", ""sialic acid binding Ig-like lectin, pseudogene 2"""	SIGLEC19P, SIGLECP2		10567377	Standard	NM_001277201		Approved	SIGLEC-7, p75/AIRM1, QA79, CD328	uc002pvv.1	Q9Y286	OTTHUMG00000182895	ENST00000317643.6:c.591C>A	19.37:g.51647820C>A						SIGLEC7_uc002pvw.1_Intron|SIGLEC7_uc010eoq.1_Intron|SIGLEC7_uc010eor.1_Intron	p.T197T	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)	2	660	+		all_neural(266;0.0199)	197			Ig-like C2-type 1.|Extracellular (Potential).		Q9NZQ1|Q9UJ86|Q9UJ87|Q9Y502	Silent	SNP	ENST00000317643.6	37	c.591C>A	CCDS12826.1																																																																																				PASS	0.662	SIGLEC7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464226.2	NM_016543		22	132	22	132	---	---	---	---
HAS1	3036	broad.mit.edu	37	19	52222524	52222524	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr19:52222524C>G	ENST00000222115.1	-	2	671	c.637G>C	c.(637-639)Ggc>Cgc	p.G213R	HAS1_ENST00000594621.1_Missense_Mutation_p.G67R|HAS1_ENST00000601714.1_Missense_Mutation_p.G220R|HAS1_ENST00000540069.2_Missense_Mutation_p.G212R	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	213					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|negative regulation of fibroblast migration (GO:0010764)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)	p.G213R(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CGCTTGCCGCCCCAGCGCTGC	0.682																																					NSCLC(132;636 2450 45807 47979)	uc002pxo.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(637-639)GGC>CGC		hyaluronan synthase 1							41.0	35.0	37.0					19																	52222524		2202	4297	6499	SO:0001583	missense	3036				cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding	g.chr19:52222524C>G	U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4818	protein-coding gene	gene with protein product		601463		HAS		9169154	Standard	XM_005258834		Approved		uc002pxo.1	Q92839		ENST00000222115.1:c.637G>C	19.37:g.52222524C>G	ENSP00000222115:p.Gly213Arg					HAS1_uc010epc.1_5'Flank|HAS1_uc010epd.1_Missense_Mutation_p.G178R|HAS1_uc002pxn.1_Missense_Mutation_p.G220R|HAS1_uc002pxp.1_Missense_Mutation_p.G212R	p.G213R	NM_001523	NP_001514	Q92839	HAS1_HUMAN		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	2	672	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	213			Cytoplasmic (Potential).		Q14470|Q9NS49	Missense_Mutation	SNP	ENST00000222115.1	37	c.637G>C	CCDS12838.1	.	.	.	.	.	.	.	.	.	.	.	21.7	4.181852	0.78677	.	.	ENSG00000105509	ENST00000540069;ENST00000222115;ENST00000376737;ENST00000376738	T;T	0.59364	0.27;0.27	3.79	3.79	0.43588	.	0.000000	0.85682	D	0.000000	T	0.70971	0.3285	M	0.62723	1.935	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.70935	0.95;0.971;0.971	T	0.74515	-0.3640	10	0.62326	D	0.03	-16.6206	13.4921	0.61402	0.0:1.0:0.0:0.0	.	212;213;212	G3V1S7;Q92839;Q8IYH3	.;HAS1_HUMAN;.	R	212;213;67;67	ENSP00000445021:G212R;ENSP00000222115:G213R	ENSP00000222115:G213R	G	-	1	0	HAS1	56914336	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.424000	0.80242	1.812000	0.52913	0.423000	0.28283	GGC		PASS	0.682	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466953.1	NM_001523		7	48	7	48	---	---	---	---
PEG3	5178	broad.mit.edu	37	19	57328242	57328242	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr19:57328242T>A	ENST00000326441.9	-	10	1931	c.1568A>T	c.(1567-1569)cAt>cTt	p.H523L	PEG3_ENST00000598410.1_Missense_Mutation_p.H399L|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.H397L|PEG3_ENST00000423103.2_Missense_Mutation_p.H523L|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	523					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.H523L(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AATCTTCCGATGTTCAGCCAA	0.453																																						uc002qnu.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(1567-1569)CAT>CTT		paternally expressed 3 isoform 1							179.0	180.0	180.0					19																	57328242		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57328242T>A	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1568A>T	19.37:g.57328242T>A	ENSP00000326581:p.His523Leu					ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.H494L|PEG3_uc002qnv.2_Missense_Mutation_p.H523L|PEG3_uc002qnw.2_Missense_Mutation_p.H399L|PEG3_uc002qnx.2_Missense_Mutation_p.H397L|PEG3_uc010etr.2_Missense_Mutation_p.H523L	p.H523L	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	1919	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	523			C2H2-type 2.		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.1568A>T	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	T	12.77	2.038590	0.35989	.	.	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	D;D	0.99974	-10.2;-10.2	4.14	2.07	0.26955	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45361	D	0.000380	D	0.99975	0.9992	H	0.96398	3.815	.	.	.	P;D;D	0.89917	0.934;0.999;1.0	D;D;D	0.91635	0.929;0.997;0.999	D	0.93384	0.6746	9	0.87932	D	0	-14.4804	6.915	0.24355	0.0:0.1991:0.0:0.8009	.	399;523;458	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	L	523;523;493	ENSP00000326581:H523L;ENSP00000403051:H523L	ENSP00000292074:H493L	H	-	2	0	ZIM2	62020054	0.991000	0.36638	0.001000	0.08648	0.156000	0.22039	2.567000	0.45956	0.408000	0.25621	0.528000	0.53228	CAT		PASS	0.453	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			25	294	25	294	---	---	---	---
ZNF586	54807	broad.mit.edu	37	19	58290764	58290764	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr19:58290764C>T	ENST00000396154.2	+	3	982	c.809C>T	c.(808-810)tCa>tTa	p.S270L	ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000396150.4_3'UTR|ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000391702.3_Missense_Mutation_p.S227L|ZNF586_ENST00000598183.1_Intron	NM_017652.3	NP_060122.2	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	270					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.S270L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGTGGAAAATCATTTCGCCGA	0.428																																						uc002qqd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(808-810)TCA>TTA		zinc finger protein 586							67.0	72.0	70.0					19																	58290764		2194	4299	6493	SO:0001583	missense	54807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58290764C>T	AK095993	CCDS42640.1, CCDS56107.1, CCDS56108.1	19q13.43	2013-01-08				ENSG00000083828		"""Zinc fingers, C2H2-type"", ""-"""	25949	protein-coding gene	gene with protein product						12477932	Standard	NM_017652		Approved	FLJ20070	uc002qqd.3	Q9NXT0		ENST00000396154.2:c.809C>T	19.37:g.58290764C>T	ENSP00000379458:p.Ser270Leu					ZNF587_uc002qqb.2_Intron|ZNF586_uc002qqe.2_3'UTR|ZNF586_uc010euh.2_Missense_Mutation_p.S227L|ZNF586_uc002qqf.1_Intron	p.S270L	NM_017652	NP_060122	Q9NXT0	ZN586_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	995	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	270			C2H2-type 7.		A0JLV8|A8MY63|B3KTS9|E7ERT1|G3XAH3	Missense_Mutation	SNP	ENST00000396154.2	37	c.809C>T	CCDS42640.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.541567	0.45280	.	.	ENSG00000083828	ENST00000449441;ENST00000391702;ENST00000396154	T;T	0.35973	1.28;1.28	1.65	1.65	0.23941	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32041	0.0816	L	0.48260	1.515	0.09310	N	0.999996	P	0.41710	0.76	B	0.41860	0.368	T	0.18398	-1.0338	9	0.87932	D	0	.	7.2226	0.25997	0.0:0.5042:0.4958:0.0	.	270	Q9NXT0	ZN586_HUMAN	L	270;227;270	ENSP00000375583:S227L;ENSP00000379458:S270L	ENSP00000375583:S227L	S	+	2	0	ZNF586	62982576	0.000000	0.05858	0.174000	0.22961	0.750000	0.42670	-0.505000	0.06367	0.879000	0.35944	0.655000	0.94253	TCA		PASS	0.428	ZNF586-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466825.2	NM_017652		24	81	24	81	---	---	---	---
SIGLEC1	6614	broad.mit.edu	37	20	3674246	3674246	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr20:3674246T>C	ENST00000344754.4	-	13	3355	c.3356A>G	c.(3355-3357)tAc>tGc	p.Y1119C	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.Y1119C	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1119	Ig-like C2-type 11.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.Y1119C(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GTACCATGTGTAGGTGAGCTG	0.662																																						uc002wja.2																			1	Substitution - Missense(1)		lung(1)	pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						c.(3355-3357)TAC>TGC		sialoadhesin precursor							68.0	48.0	54.0					20																	3674246		2203	4300	6503	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3674246T>C	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.3356A>G	20.37:g.3674246T>C	ENSP00000341141:p.Tyr1119Cys					SIGLEC1_uc002wjb.1_5'Flank|SIGLEC1_uc002wiz.3_Missense_Mutation_p.Y1119C	p.Y1119C	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN			13	3356	-			1119			Ig-like C2-type 11.|Extracellular (Potential).		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.3356A>G	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	T	18.26	3.584868	0.65992	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.14022	2.54;2.54	5.52	4.4	0.53042	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.000000	0.37809	N	0.001938	T	0.41627	0.1167	M	0.91459	3.21	0.34372	D	0.692122	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.59177	-0.7503	10	0.44086	T	0.13	.	8.7046	0.34347	0.1692:0.0:0.0:0.8308	.	1119;1119	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	C	1119	ENSP00000341141:Y1119C;ENSP00000202578:Y1119C	ENSP00000202578:Y1119C	Y	-	2	0	SIGLEC1	3622246	0.996000	0.38824	0.984000	0.44739	0.979000	0.70002	2.074000	0.41529	0.912000	0.36772	0.533000	0.62120	TAC		PASS	0.662	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		10	27	10	27	---	---	---	---
PROKR2	128674	broad.mit.edu	37	20	5283025	5283025	+	Silent	SNP	C	C	T	rs367826294		TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr20:5283025C>T	ENST00000217270.3	-	2	815	c.816G>A	c.(814-816)aaG>aaA	p.K272K	PROKR2_ENST00000546004.1_Silent_p.K272K	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	272					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)	p.K272K(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CCAGGACCGTCTTCCTGCGGC	0.597										HNSCC(71;0.22)																												uc010zqw.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(814-816)AAG>AAA		prokineticin receptor 2		C		1,4405		0,1,2202	69.0	59.0	62.0		816	3.1	1.0	20		62	0,8600		0,0,4300	no	coding-synonymous	PROKR2	NM_144773.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		272/385	5283025	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	128674					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr20:5283025C>T	AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"""GPCR / Class A : Prokineticin receptors"""	15836	protein-coding gene	gene with protein product		607123	"""G protein-coupled receptor 73-like 1"", ""Kallmann syndrome 3 (autosomal dominant)"""	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.816G>A	20.37:g.5283025C>T		HNSCC(71;0.22)				PROKR2_uc010zqx.1_Silent_p.K272K|PROKR2_uc010zqy.1_Silent_p.K272K	p.K272K	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN			2	816	-			272			Cytoplasmic (Potential).		A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Silent	SNP	ENST00000217270.3	37	c.816G>A	CCDS13089.1																																																																																				PASS	0.597	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773		15	38	15	38	---	---	---	---
KIZ-AS1	101929591	broad.mit.edu	37	20	21143633	21143633	+	RNA	SNP	G	G	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr20:21143633G>A	ENST00000591761.1	-	0	5051				RP5-872K7.7_ENST00000425746.2_RNA|PLK1S1_ENST00000457464.1_RNA																							CAGAACCACAGCCAAATCCAG	0.433																																						uc002wsb.2																			0					0						c.(1183-1185)CAG>CAA		polo-like kinase 1 substrate 1 isoform 1																																						55857				spindle organization	centrosome	protein kinase binding	g.chr20:21143633G>A																													20.37:g.21143633G>A						PLK1S1_uc010zsh.1_Silent_p.Q292Q|PLK1S1_uc010zsi.1_Silent_p.Q262Q|PLK1S1_uc010zsj.1_RNA|uc002wsc.2_Intron|PLK1S1_uc002wsd.2_RNA	p.Q395Q	NM_018474	NP_060944	Q2M2Z5	KIZ_HUMAN			6	1318	+			395						Silent	SNP	ENST00000591761.1	37	c.1185G>A																																																																																					PASS	0.433	RP4-777D9.2-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078258.2			19	57	19	57	---	---	---	---
NKX2-2	4821	broad.mit.edu	37	20	21494122	21494122	+	Silent	SNP	C	C	T			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr20:21494122C>T	ENST00000377142.4	-	1	542	c.186G>A	c.(184-186)aaG>aaA	p.K62K	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	62					astrocyte differentiation (GO:0048708)|brain development (GO:0007420)|digestive tract development (GO:0048565)|endocrine pancreas development (GO:0031018)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|oligodendrocyte development (GO:0014003)|optic nerve development (GO:0021554)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell fate commitment (GO:0003327)|ventral spinal cord interneuron fate determination (GO:0060580)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|core promoter proximal region DNA binding (GO:0001159)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.K62K(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						AGAAGGGGTTCTTCAGGGGCA	0.677																																						uc002wsi.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)|skin(1)	2						c.(184-186)AAG>AAA		NK2 transcription factor related, locus 2							40.0	36.0	37.0					20																	21494122		2203	4300	6503	SO:0001819	synonymous_variant	4821				brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity	g.chr20:21494122C>T	AF019415	CCDS13145.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125820	ENSG00000125820		"""Homeoboxes / ANTP class : NKL subclass"""	7835	protein-coding gene	gene with protein product		604612	"""NK-2 (Drosophila) homolog B"", ""NK2 transcription factor related, locus 2 (Drosophila)"""	NKX2B		9703340, 1346742	Standard	NM_002509		Approved	NKX2.2	uc002wsi.3	O95096	OTTHUMG00000170524	ENST00000377142.4:c.186G>A	20.37:g.21494122C>T							p.K62K	NM_002509	NP_002500	O95096	NKX22_HUMAN			1	543	-			62						Silent	SNP	ENST00000377142.4	37	c.186G>A	CCDS13145.1																																																																																				PASS	0.677	NKX2-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078278.9			11	28	11	28	---	---	---	---
REM1	28954	broad.mit.edu	37	20	30070090	30070090	+	Splice_Site	SNP	G	G	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr20:30070090G>A	ENST00000201979.2	+	4	717	c.424G>A	c.(424-426)Gat>Aat	p.D142N		NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	142					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)	p.D142N(1)		kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TCTCCTGCAGGATAAAAGCTG	0.582																																						uc002wwa.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|pancreas(2)	4						c.(424-426)GAT>AAT		RAS-like GTP-binding protein REM							59.0	57.0	58.0					20																	30070090		2203	4300	6503	SO:0001630	splice_region_variant	28954				small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity	g.chr20:30070090G>A	AF152863	CCDS13181.1	20q11.21	2014-05-09	2004-04-14	2004-04-16	ENSG00000088320	ENSG00000088320			15922	protein-coding gene	gene with protein product	"""GTPase GES"""	610388	"""RAS (RAD and GEM)-like GTP-binding"""	REM		10831614, 14623965	Standard	NM_014012		Approved	GES	uc002wwa.3	O75628	OTTHUMG00000032168	ENST00000201979.2:c.424-1G>A	20.37:g.30070090G>A							p.D142N	NM_014012	NP_054731	O75628	REM1_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		4	708	+	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		142					E1P5L1|Q5TZR7|Q5TZR8|Q9NP57	Missense_Mutation	SNP	ENST00000201979.2	37	c.424G>A	CCDS13181.1	.	.	.	.	.	.	.	.	.	.	G	11.12	1.544405	0.27563	.	.	ENSG00000088320	ENST00000201979	T	0.77229	-1.08	4.75	4.75	0.60458	Small GTP-binding protein domain (1);	2.286360	0.02383	N	0.079005	T	0.81484	0.4832	M	0.75085	2.285	0.52501	D	0.99995	B	0.26708	0.157	B	0.25987	0.065	T	0.59440	-0.7454	9	.	.	.	.	15.0864	0.72158	0.0:0.0:1.0:0.0	.	142	O75628	REM1_HUMAN	N	142	ENSP00000201979:D142N	.	D	+	1	0	REM1	29533751	1.000000	0.71417	0.985000	0.45067	0.392000	0.30506	3.038000	0.49783	2.438000	0.82558	0.655000	0.94253	GAT		PASS	0.582	REM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078508.2	NM_014012	Missense_Mutation	32	72	32	72	---	---	---	---
BPIFB3	359710	broad.mit.edu	37	20	31656643	31656643	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr20:31656643T>C	ENST00000375494.3	+	10	1013	c.1013T>C	c.(1012-1014)cTa>cCa	p.L338P		NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	338					innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.L338P(1)									CAGCAACTCCTACTGTTCCTG	0.562																																						uc002wym.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(1012-1014)CTA>CCA		antimicrobial peptide RYA3 precursor							97.0	72.0	80.0					20																	31656643		2203	4300	6503	SO:0001583	missense	359710				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding	g.chr20:31656643T>C	AF549189	CCDS13212.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186190	ENSG00000186190		"""BPI fold containing"""	16178	protein-coding gene	gene with protein product		615717	"""chromosome 20 open reading frame 185"""	C20orf185		11971875, 21787333	Standard	NM_182658		Approved	dJ726C3.4, LPLUNC3, RYA3	uc002wym.1	P59826	OTTHUMG00000032234	ENST00000375494.3:c.1013T>C	20.37:g.31656643T>C	ENSP00000364643:p.Leu338Pro						p.L338P	NM_182658	NP_872599	P59826	LPLC3_HUMAN			10	1013	+			338					Q5TDX7	Missense_Mutation	SNP	ENST00000375494.3	37	c.1013T>C	CCDS13212.1	.	.	.	.	.	.	.	.	.	.	T	12.08	1.830650	0.32329	.	.	ENSG00000186190	ENST00000375494	T	0.08546	3.08	4.25	4.25	0.50352	.	0.600256	0.13881	N	0.356324	T	0.24122	0.0584	M	0.67953	2.075	0.50467	D	0.999874	D	0.76494	0.999	D	0.91635	0.999	T	0.00533	-1.1685	10	0.33141	T	0.24	-3.5043	9.9298	0.41514	0.0:0.0:0.0:1.0	.	338	P59826	BPIB3_HUMAN	P	338	ENSP00000364643:L338P	ENSP00000364643:L338P	L	+	2	0	BPIFB3	31120304	0.998000	0.40836	0.982000	0.44146	0.044000	0.14063	3.346000	0.52190	1.918000	0.55548	0.482000	0.46254	CTA		PASS	0.562	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078654.2	NM_182658		4	96	4	96	---	---	---	---
SAMHD1	25939	broad.mit.edu	37	20	35526237	35526237	+	Silent	SNP	G	G	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr20:35526237G>A	ENST00000262878.4	-	15	1933	c.1734C>T	c.(1732-1734)ttC>ttT	p.F578F		NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	578					dATP catabolic process (GO:0046061)|defense response to virus (GO:0051607)|dGTP catabolic process (GO:0006203)|immune response (GO:0006955)|innate immune response (GO:0045087)|protein homotetramerization (GO:0051289)|regulation of innate immune response (GO:0045088)	intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dGTP binding (GO:0032567)|dGTPase activity (GO:0008832)|nucleic acid binding (GO:0003676)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.F578F(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				GCGGCTTGGTGAAATTTCTGT	0.388																																						uc002xgh.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1732-1734)TTC>TTT		SAM domain- and HD domain-containing protein 1							85.0	84.0	85.0					20																	35526237		2203	4300	6503	SO:0001819	synonymous_variant	25939				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity	g.chr20:35526237G>A	AF228421	CCDS13288.1	20q11.23	2014-09-17			ENSG00000101347	ENSG00000101347		"""Sterile alpha motif (SAM) domain containing"""	15925	protein-coding gene	gene with protein product	"""HD domain containing 1"", ""monocyte protein 5"", ""Aicardi-Goutieres syndrome 5"""	606754				11064105, 11230166	Standard	NM_015474		Approved	SBBI88, Mg11, HDDC1, MOP-5, AGS5	uc002xgh.2	Q9Y3Z3	OTTHUMG00000032402	ENST00000262878.4:c.1734C>T	20.37:g.35526237G>A						SAMHD1_uc010gft.1_RNA	p.F578F	NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN			15	1864	-		Myeloproliferative disorder(115;0.00878)	578					B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	Silent	SNP	ENST00000262878.4	37	c.1734C>T	CCDS13288.1																																																																																				PASS	0.388	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079062.2	NM_015474		5	111	5	111	---	---	---	---
RALGAPB	57148	broad.mit.edu	37	20	37169683	37169683	+	Splice_Site	SNP	G	G	C			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr20:37169683G>C	ENST00000262879.6	+	18	2846		c.e18-1		RALGAPB_ENST00000397042.3_Splice_Site|RALGAPB_ENST00000397038.1_Splice_Site|RALGAPB_ENST00000397040.1_Splice_Site			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)						activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.?(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CCTGCTTTTAGGACTGCCTTA	0.428																																						uc002xiw.2																			1	Unknown(1)		lung(1)	pancreas(1)|skin(1)	2						c.e18-1		Ral GTPase activating protein, beta subunit							156.0	146.0	150.0					20																	37169683		2203	4300	6503	SO:0001630	splice_region_variant	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37169683G>C	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.2563-1G>C	20.37:g.37169683G>C						RALGAPB_uc002xix.2_Splice_Site_p.D851_splice|RALGAPB_uc002xiy.1_Splice_Site_p.D855_splice|RALGAPB_uc002xiz.2_Splice_Site_p.D633_splice|RALGAPB_uc002xja.1_Splice_Site_p.D582_splice	p.D855_splice	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN			18	2820	+								A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Splice_Site	SNP	ENST00000262879.6	37	c.2563_splice	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.549398	0.86127	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000397038;ENST00000397040;ENST00000438490	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5739	0.95434	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RALGAPB	36603097	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.813000	0.99286	2.691000	0.91804	0.563000	0.77884	.		PASS	0.428	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336	Intron	44	133	44	133	---	---	---	---
CHD6	84181	broad.mit.edu	37	20	40045305	40045305	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr20:40045305G>A	ENST00000373233.3	-	33	6586	c.6409C>T	c.(6409-6411)Cga>Tga	p.R2137*	CHD6_ENST00000480022.1_5'Flank	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2137					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)	p.R2137*(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				AGGCTGGTTCGAGAACCAGCA	0.587																																						uc002xka.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14						c.(6409-6411)CGA>TGA		chromodomain helicase DNA binding protein 6							66.0	60.0	62.0					20																	40045305		2203	4300	6503	SO:0001587	stop_gained	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40045305G>A	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.6409C>T	20.37:g.40045305G>A	ENSP00000362330:p.Arg2137*					CHD6_uc002xjz.1_5'Flank	p.R2137*	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN			33	6587	-		Myeloproliferative disorder(115;0.00425)	2137					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Nonsense_Mutation	SNP	ENST00000373233.3	37	c.6409C>T	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	46	12.880823	0.99703	.	.	ENSG00000124177	ENST00000373233	.	.	.	5.46	4.49	0.54785	.	0.000000	0.48767	D	0.000165	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.7328	10.8428	0.46726	0.0:0.123:0.6913:0.1856	.	.	.	.	X	2137	.	ENSP00000362330:R2137X	R	-	1	2	CHD6	39478719	0.995000	0.38212	0.996000	0.52242	0.568000	0.35870	1.667000	0.37471	1.392000	0.46585	0.655000	0.94253	CGA		PASS	0.587	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			36	81	36	81	---	---	---	---
FAM209A	200232	broad.mit.edu	37	20	55100911	55100911	+	Nonsense_Mutation	SNP	A	A	T			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr20:55100911A>T	ENST00000371328.3	+	2	624	c.301A>T	c.(301-303)Aaa>Taa	p.K101*	GCNT7_ENST00000243913.4_5'UTR|FAM209A_ENST00000481560.1_3'UTR	NM_001012971.3	NP_001012989.2	Q5JX71	F209A_HUMAN	family with sequence similarity 209, member A	101						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.K101*(1)									TCCATTAAAGAAAAAAAGAAA	0.428																																						uc002xxx.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(301-303)AAA>TAA		hypothetical protein LOC200232 precursor							105.0	109.0	108.0					20																	55100911		2203	4300	6503	SO:0001587	stop_gained	200232					integral to membrane		g.chr20:55100911A>T	AL109806	CCDS33493.1	20q13.31	2011-11-24	2011-11-24	2011-11-24	ENSG00000124103	ENSG00000124103			16100	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 106"""	C20orf106			Standard	NM_001012971		Approved	dJ1153D9.3		Q5JX71	OTTHUMG00000032799	ENST00000371328.3:c.301A>T	20.37:g.55100911A>T	ENSP00000360379:p.Lys101*					GCNT7_uc010zzg.1_5'UTR|C20orf107_uc010zzh.1_Intron	p.K101*	NM_001012971	NP_001012989	Q5JX71	CT106_HUMAN	Colorectal(105;0.202)		2	381	+			101			Cytoplasmic (Potential).		Q05C43	Nonsense_Mutation	SNP	ENST00000371328.3	37	c.301A>T	CCDS33493.1	.	.	.	.	.	.	.	.	.	.	A	29.2	4.986662	0.93106	.	.	ENSG00000124103	ENST00000371328	.	.	.	4.03	2.93	0.34026	.	0.140740	0.31784	N	0.007080	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.798	5.7947	0.18379	0.8721:0.0:0.1279:0.0	.	.	.	.	X	101	.	ENSP00000360379:K101X	K	+	1	0	C20orf106	54534318	1.000000	0.71417	0.001000	0.08648	0.003000	0.03518	3.882000	0.56160	0.451000	0.26802	0.338000	0.21704	AAA		PASS	0.428	FAM209A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079815.2			74	226	74	226	---	---	---	---
TTC3	7267	broad.mit.edu	37	21	38573770	38573770	+	Silent	SNP	C	C	T	rs200867607		TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr21:38573770C>T	ENST00000399017.2	+	46	8720	c.5973C>T	c.(5971-5973)agC>agT	p.S1991S	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Silent_p.S1991S|TTC3_ENST00000354749.2_Silent_p.S1991S	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1991					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S1991S(1)		breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				AAGGGCAGAGCGCTTGCCCGG	0.537													C|||	1	0.000199681	0.0	0.0	5008	,	,		19539	0.0		0.001	False		,,,				2504	0.0				Ovarian(38;194 1649 35661)	uc002yvz.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(2)|lung(2)|breast(2)	9						c.(5971-5973)AGC>AGT		tetratricopeptide repeat domain 3		C	,	0,4406		0,0,2203	75.0	77.0	77.0		5973,5973	0.2	0.1	21		77	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	TTC3	NM_001001894.1,NM_003316.3	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	1991/2026,1991/2026	38573770	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38573770C>T	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.5973C>T	21.37:g.38573770C>T						TTC3_uc002ywa.2_Silent_p.S1991S|TTC3_uc002ywb.2_Silent_p.S1991S|TTC3_uc010gnf.2_Silent_p.S1756S|TTC3_uc002ywc.2_Silent_p.S1681S	p.S1991S	NM_001001894	NP_001001894	P53804	TTC3_HUMAN			46	6078	+		Myeloproliferative disorder(46;0.0412)	1991			RING-type.		A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Silent	SNP	ENST00000399017.2	37	c.5973C>T	CCDS13651.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	8.697	0.908779	0.17833	0.0	2.33E-4	ENSG00000182670	ENST00000428693	.	.	.	4.5	0.254	0.15557	.	.	.	.	.	T	0.24198	0.0586	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.25398	-1.0133	4	.	.	.	-0.2774	4.7683	0.13142	0.0:0.4698:0.3383:0.1919	.	.	.	.	C	283	.	.	R	+	1	0	TTC3	37495640	0.001000	0.12720	0.057000	0.19452	0.940000	0.58332	-0.591000	0.05753	0.235000	0.21160	0.655000	0.94253	CGC		PASS	0.537	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			4	128	4	128	---	---	---	---
GGT5	2687	broad.mit.edu	37	22	24615949	24615949	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr22:24615949C>A	ENST00000327365.4	-	12	2166	c.1750G>T	c.(1750-1752)Gca>Tca	p.A584S	GGT5_ENST00000418439.2_Missense_Mutation_p.A508S|GGT5_ENST00000263112.7_Missense_Mutation_p.A552S|GGT5_ENST00000398292.3_Missense_Mutation_p.A585S	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	584					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)	p.A584S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						TAGTAGCCTGCGGCCTCCCCA	0.637																																						uc002zzo.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1750-1752)GCA>TCA		gamma-glutamyltransferase 5 isoform b							56.0	50.0	52.0					22																	24615949		2203	4300	6503	SO:0001583	missense	2687				glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr22:24615949C>A	M64099	CCDS13825.1, CCDS42989.1, CCDS42990.1	22q11.23	2008-03-25	2008-03-10	2008-03-10	ENSG00000099998	ENSG00000099998		"""Gamma-glutamyltransferases"""	4260	protein-coding gene	gene with protein product		137168	"""gamma-glutamyltransferase-like activity 1"""	GGTLA1		1676842, 8095916, 18357469	Standard	NM_004121		Approved	GGT-REL	uc002zzp.4	P36269	OTTHUMG00000150796	ENST00000327365.4:c.1750G>T	22.37:g.24615949C>A	ENSP00000330080:p.Ala584Ser					GGT5_uc002zzp.3_Missense_Mutation_p.A585S|GGT5_uc002zzr.3_Missense_Mutation_p.A552S|GGT5_uc002zzq.3_3'UTR|GGT5_uc011ajm.1_Missense_Mutation_p.A508S	p.A584S	NM_004121	NP_004112	P36269	GGT5_HUMAN			12	2167	-			584			Extracellular (Potential).		Q53XM9|Q6GMP0|Q96FC1|Q9UFM5	Missense_Mutation	SNP	ENST00000327365.4	37	c.1750G>T	CCDS13825.1	.	.	.	.	.	.	.	.	.	.	C	10.04	1.241990	0.22796	.	.	ENSG00000099998	ENST00000327365;ENST00000263112;ENST00000438024;ENST00000398292;ENST00000418439	T;T;T;T	0.24151	1.87;1.87;1.87;1.87	4.65	0.818	0.18778	.	0.252375	0.39146	N	0.001450	T	0.17959	0.0431	N	0.13168	0.305	0.09310	N	0.999995	P;P;P;P	0.49090	0.506;0.919;0.472;0.868	B;P;B;B	0.48815	0.215;0.591;0.1;0.387	T	0.14615	-1.0466	10	0.34782	T	0.22	-4.1414	9.9697	0.41745	0.6128:0.3872:0.0:0.0	.	508;552;585;584	E7EUG3;P36269-2;Q6GMP0;P36269	.;.;.;GGT5_HUMAN	S	584;552;499;585;508	ENSP00000330080:A584S;ENSP00000263112:A552S;ENSP00000381340:A585S;ENSP00000392146:A508S	ENSP00000263112:A552S	A	-	1	0	GGT5	22945949	0.013000	0.17824	0.091000	0.20842	0.054000	0.15201	0.001000	0.13038	0.494000	0.27859	0.650000	0.86243	GCA		PASS	0.637	GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320119.1	NM_004121		19	52	19	52	---	---	---	---
ENTHD1	150350	broad.mit.edu	37	22	40139799	40139799	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr22:40139799A>G	ENST00000325157.6	-	7	1959	c.1709T>C	c.(1708-1710)aTc>aCc	p.I570T		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	570								p.I570T(1)		breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					AAGTTCTTGGATCACTGTGCT	0.443																																						uc003ayg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1708-1710)ATC>ACC		ENTH domain containing 1							152.0	128.0	136.0					22																	40139799		2203	4300	6503	SO:0001583	missense	150350							g.chr22:40139799A>G	AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.1709T>C	22.37:g.40139799A>G	ENSP00000317431:p.Ile570Thr						p.I570T	NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN			7	1960	-	Melanoma(58;0.0749)		570			Potential.		B0QYD5|Q5H9F7|Q96LK3	Missense_Mutation	SNP	ENST00000325157.6	37	c.1709T>C	CCDS13998.1	.	.	.	.	.	.	.	.	.	.	A	13.68	2.310097	0.40895	.	.	ENSG00000176177	ENST00000325157	T	0.36340	1.26	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000009	T	0.48732	0.1516	M	0.62723	1.935	0.32862	D	0.508129	D	0.59767	0.986	P	0.53954	0.738	T	0.65364	-0.6186	10	0.72032	D	0.01	-23.4693	12.4834	0.55856	1.0:0.0:0.0:0.0	.	570	Q8IYW4	ENTD1_HUMAN	T	570	ENSP00000317431:I570T	ENSP00000317431:I570T	I	-	2	0	ENTHD1	38469745	0.950000	0.32346	0.468000	0.27192	0.052000	0.14988	2.150000	0.42254	2.186000	0.69663	0.533000	0.62120	ATC		PASS	0.443	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321302.1	NM_152512		37	127	37	127	---	---	---	---
GYG2	8908	broad.mit.edu	37	X	2773121	2773121	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chrX:2773121G>T	ENST00000381163.3	+	6	787	c.505G>T	c.(505-507)Gtg>Ttg	p.V169L	GYG2_ENST00000338623.5_Missense_Mutation_p.V169L|GYG2-AS1_ENST00000445107.1_RNA|GYG2_ENST00000542787.1_Missense_Mutation_p.V169L|GYG2_ENST00000381161.1_3'UTR|GYG2_ENST00000398806.3_Missense_Mutation_p.V138L	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2	169					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	glycogenin glucosyltransferase activity (GO:0008466)	p.V169L(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CAATAGCGGGGTGTTTGTCTT	0.572																																						uc004cqs.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(505-507)GTG>TTG		glycogenin 2 isoform b							119.0	94.0	102.0					X																	2773121		2203	4299	6502	SO:0001583	missense	8908				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity	g.chrX:2773121G>T	U94361	CCDS14121.1, CCDS48074.1	Xp22.3	2013-02-22			ENSG00000056998	ENSG00000056998	2.4.1.186	"""Glycosyltransferase family 8 domain containing"""	4700	protein-coding gene	gene with protein product	"""glycogenin glucosyltransferase"""	300198				9857012	Standard	NM_001079855		Approved	GN-2	uc004cqs.1	O15488	OTTHUMG00000021079	ENST00000381163.3:c.505G>T	X.37:g.2773121G>T	ENSP00000370555:p.Val169Leu					GYG2_uc004cqt.1_Missense_Mutation_p.V138L|GYG2_uc004cqu.1_Missense_Mutation_p.V138L|GYG2_uc004cqv.1_5'UTR|GYG2_uc004cqw.1_Missense_Mutation_p.V129L|GYG2_uc004cqx.1_Missense_Mutation_p.V138L|GYG2_uc010ndc.1_5'UTR	p.V169L	NM_003918	NP_003909	O15488	GLYG2_HUMAN			6	787	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	169					B7WNN6|O15485|O15486|O15487|O15489|O15490	Missense_Mutation	SNP	ENST00000381163.3	37	c.505G>T	CCDS14121.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.233844	0.58886	.	.	ENSG00000056998	ENST00000398806;ENST00000381163;ENST00000338623;ENST00000542787	T;T;T;T	0.54071	0.59;0.59;0.59;0.59	3.47	3.47	0.39725	.	0.000000	0.56097	D	0.000038	T	0.70098	0.3185	M	0.69823	2.125	0.48696	D	0.999698	D;D;P;D;D	0.76494	0.998;0.999;0.874;0.998;0.994	D;D;P;D;D	0.77004	0.983;0.984;0.878;0.989;0.989	T	0.75622	-0.3254	10	0.87932	D	0	.	14.664	0.68893	0.0:0.0:1.0:0.0	.	169;129;138;138;169	O15488-4;O15488-3;A8K8Y1;O15488-2;O15488	.;.;.;.;GLYG2_HUMAN	L	138;169;169;169	ENSP00000381786:V138L;ENSP00000370555:V169L;ENSP00000341273:V169L;ENSP00000446092:V169L	ENSP00000341273:V169L	V	+	1	0	GYG2	2783121	1.000000	0.71417	0.031000	0.17742	0.092000	0.18411	5.939000	0.70179	1.519000	0.48950	0.600000	0.82982	GTG		PASS	0.572	GYG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055645.1	NM_003918		58	127	58	127	---	---	---	---
CA5B	11238	broad.mit.edu	37	X	15793398	15793398	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chrX:15793398A>T	ENST00000318636.3	+	6	721	c.585A>T	c.(583-585)aaA>aaT	p.K195N	CA5B_ENST00000454127.2_Missense_Mutation_p.K195N	NM_007220.3	NP_009151.1	Q8WTZ4	CA5BL_HUMAN	carbonic anhydrase VB, mitochondrial	0						mitochondrion (GO:0005739)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.K195N(1)		endometrium(1)|kidney(2)|lung(3)|prostate(1)|stomach(2)	9	Hepatocellular(33;0.183)					AGCTACAGAAATTAGTGGATA	0.323																																						uc004cxe.2																			1	Substitution - Missense(1)		lung(1)		0						c.(583-585)AAA>AAT		carbonic anhydrase VB, mitochondrial precursor							145.0	134.0	138.0					X																	15793398		2203	4300	6503	SO:0001583	missense	11238				one-carbon metabolic process	mitochondrion	carbonate dehydratase activity|zinc ion binding	g.chrX:15793398A>T	AB021660	CCDS14171.1	Xp22.1	2008-08-13			ENSG00000169239	ENSG00000169239		"""Carbonic anhydrases"""	1378	protein-coding gene	gene with protein product		300230				10409679	Standard	XM_005274442		Approved		uc004cxe.3	Q9Y2D0	OTTHUMG00000021183	ENST00000318636.3:c.585A>T	X.37:g.15793398A>T	ENSP00000314099:p.Lys195Asn						p.K195N	NM_007220	NP_009151	Q9Y2D0	CAH5B_HUMAN			6	702	+	Hepatocellular(33;0.183)		195					A6NEZ4	Missense_Mutation	SNP	ENST00000318636.3	37	c.585A>T	CCDS14171.1	.	.	.	.	.	.	.	.	.	.	A	17.61	3.432640	0.62844	.	.	ENSG00000169239	ENST00000318636;ENST00000454127	T;T	0.69175	-0.38;-0.38	5.59	0.253	0.15551	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.088959	0.85682	D	0.000000	T	0.69178	0.3082	M	0.69463	2.115	0.43740	D	0.99623	D	0.56521	0.976	P	0.56823	0.807	T	0.64914	-0.6295	10	0.62326	D	0.03	-9.2684	4.4951	0.11833	0.5778:0.1572:0.2649:0.0	.	195	Q9Y2D0	CAH5B_HUMAN	N	195	ENSP00000314099:K195N;ENSP00000417021:K195N	ENSP00000314099:K195N	K	+	3	2	CA5B	15703319	0.983000	0.35010	0.907000	0.35723	0.744000	0.42396	0.659000	0.24994	-0.305000	0.08831	0.350000	0.21858	AAA		PASS	0.323	CA5B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354933.1	NM_007220		15	162	15	162	---	---	---	---
NHS	4810	broad.mit.edu	37	X	17750110	17750110	+	Silent	SNP	C	C	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chrX:17750110C>A	ENST00000380060.3	+	8	4757	c.4419C>A	c.(4417-4419)ccC>ccA	p.P1473P	NHS_ENST00000398097.3_Silent_p.P1317P	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1494					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.P1317P(1)|p.P1473P(1)		breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					TGACAACCCCCAACAGCCAGA	0.512																																						uc004cxx.2																			2	Substitution - coding silent(2)		lung(2)	skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(4417-4419)CCC>CCA		Nance-Horan syndrome protein isoform 1							153.0	137.0	143.0					X																	17750110		2203	4300	6503	SO:0001819	synonymous_variant	4810					nucleus		g.chrX:17750110C>A		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.4419C>A	X.37:g.17750110C>A						NHS_uc011mix.1_Silent_p.P1494P|NHS_uc004cxy.2_Silent_p.P1317P|NHS_uc004cxz.2_Silent_p.P1296P|NHS_uc004cya.2_Silent_p.P1196P	p.P1473P	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN			8	4757	+	Hepatocellular(33;0.183)		1473					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Silent	SNP	ENST00000380060.3	37	c.4419C>A	CCDS14181.1																																																																																				PASS	0.512	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		76	238	76	238	---	---	---	---
GPR64	10149	broad.mit.edu	37	X	19028829	19028829	+	Silent	SNP	G	G	T			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chrX:19028829G>T	ENST00000379869.3	-	17	1330	c.1167C>A	c.(1165-1167)tcC>tcA	p.S389S	GPR64_ENST00000379876.1_Silent_p.S365S|GPR64_ENST00000357544.3_Silent_p.S359S|GPR64_ENST00000356606.4_Silent_p.S375S|GPR64_ENST00000357991.3_Silent_p.S386S|GPR64_ENST00000354791.3_Silent_p.S373S|GPR64_ENST00000360279.4_Silent_p.S367S|GPR64_ENST00000379878.3_Silent_p.S373S|GPR64_ENST00000379873.2_Silent_p.S389S|GPR64_ENST00000340581.3_Silent_p.S359S	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	389					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.S386S(1)		breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					GGCTGCCCAAGGACAGAGCCT	0.502																																						uc004cyx.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1165-1167)TCC>TCA		G protein-coupled receptor 64 isoform 1							195.0	146.0	163.0					X																	19028829		2203	4300	6503	SO:0001819	synonymous_variant	10149				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity	g.chrX:19028829G>T	X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.1167C>A	X.37:g.19028829G>T						GPR64_uc004cyy.2_Silent_p.S386S|GPR64_uc004cyz.2_Silent_p.S375S|GPR64_uc004czb.2_Silent_p.S389S|GPR64_uc004czc.2_Silent_p.S373S|GPR64_uc004czd.2_Silent_p.S365S|GPR64_uc004cze.2_Silent_p.S359S|GPR64_uc004czf.2_Silent_p.S351S|GPR64_uc004cza.2_Silent_p.S367S|GPR64_uc004cyw.2_Silent_p.S373S|GPR64_uc010nfj.2_Silent_p.S359S	p.S389S	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN			17	1331	-	Hepatocellular(33;0.183)		389			Extracellular (Potential).		B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Silent	SNP	ENST00000379869.3	37	c.1167C>A	CCDS43923.1																																																																																				PASS	0.502	GPR64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055970.2			91	256	91	256	---	---	---	---
MAGEB10	139422	broad.mit.edu	37	X	27839977	27839977	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chrX:27839977A>G	ENST00000356790.2	+	3	799	c.554A>G	c.(553-555)gAt>gGt	p.D185G		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	185	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.D185G(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						AACAAACTAGATCTAGGCTGT	0.478																																						uc004dbw.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|breast(1)|central_nervous_system(1)	3						c.(553-555)GAT>GGT		melanoma antigen family B, 10							93.0	80.0	85.0					X																	27839977		2202	4300	6502	SO:0001583	missense	139422							g.chrX:27839977A>G		CCDS35221.1	Xp21.3	2008-02-05			ENSG00000177689	ENSG00000177689			25377	protein-coding gene	gene with protein product		300761				11454705	Standard	NM_182506		Approved	FLJ32965	uc004dbw.3	Q96LZ2	OTTHUMG00000046084	ENST00000356790.2:c.554A>G	X.37:g.27839977A>G	ENSP00000368304:p.Asp185Gly						p.D185G	NM_182506	NP_872312	Q96LZ2	MAGBA_HUMAN			3	781	+			185			MAGE.		Q494Y6|Q494Y7|Q9BZ78	Missense_Mutation	SNP	ENST00000356790.2	37	c.554A>G	CCDS35221.1	.	.	.	.	.	.	.	.	.	.	A	4.812	0.150957	0.09185	.	.	ENSG00000177689	ENST00000356790	T	0.04758	3.56	2.62	1.45	0.22620	.	0.221093	0.36034	U	0.002823	T	0.01870	0.0059	N	0.03000	-0.44	0.09310	N	1	B	0.02656	0.0	B	0.16722	0.016	T	0.44019	-0.9355	10	0.34782	T	0.22	.	3.7547	0.08581	0.8074:0.0:0.1926:0.0	.	185	Q96LZ2	MAGBA_HUMAN	G	185	ENSP00000368304:D185G	ENSP00000368304:D185G	D	+	2	0	MAGEB10	27749898	0.001000	0.12720	0.001000	0.08648	0.011000	0.07611	0.983000	0.29552	0.297000	0.22615	0.345000	0.21793	GAT		PASS	0.478	MAGEB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106216.1	NM_182506		11	161	11	161	---	---	---	---
BCOR	54880	broad.mit.edu	37	X	39934138	39934138	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chrX:39934138C>G	ENST00000378444.4	-	4	689	c.461G>C	c.(460-462)gGa>gCa	p.G154A	BCOR_ENST00000342274.4_Missense_Mutation_p.G154A|BCOR_ENST00000397354.3_Missense_Mutation_p.G154A|BCOR_ENST00000378455.4_Missense_Mutation_p.G154A	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	154					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.G154A(1)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TTTTTGTATTCCAGGCGGTGT	0.512			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															uc004den.3				Rec	yes		X	Xp11.4	54880		BCL6 corepressor	yes							1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)|central_nervous_system(1)	4						c.(460-462)GGA>GCA		BCL-6 interacting corepressor isoform c							59.0	59.0	59.0					X																	39934138		2202	4300	6502	SO:0001583	missense	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39934138C>G	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.461G>C	X.37:g.39934138C>G	ENSP00000367705:p.Gly154Ala					BCOR_uc004dep.3_Missense_Mutation_p.G154A|BCOR_uc004deo.3_Missense_Mutation_p.G154A|BCOR_uc004dem.3_Missense_Mutation_p.G154A|BCOR_uc004deq.3_Missense_Mutation_p.G154A	p.G154A	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN			4	753	-			154					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	ENST00000378444.4	37	c.461G>C	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.820990	0.71028	.	.	ENSG00000183337	ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200	T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02	5.47	5.47	0.80525	.	.	.	.	.	T	0.71492	0.3346	L	0.29908	0.895	0.58432	D	0.999993	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.998;0.999	T	0.75071	-0.3447	9	0.72032	D	0.01	-14.8639	18.3676	0.90397	0.0:1.0:0.0:0.0	.	154;154;154;154	Q6W2J9-3;Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;.;BCOR_HUMAN;.	A	154	ENSP00000367716:G154A;ENSP00000380512:G154A;ENSP00000367705:G154A;ENSP00000345923:G154A;ENSP00000384485:G154A	ENSP00000345923:G154A	G	-	2	0	BCOR	39819082	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.277000	0.76020	0.600000	0.82982	GGA		PASS	0.512	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		25	82	25	82	---	---	---	---
USP9X	8239	broad.mit.edu	37	X	41075775	41075775	+	Silent	SNP	A	A	T			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chrX:41075775A>T	ENST00000324545.8	+	35	6588	c.5955A>T	c.(5953-5955)tcA>tcT	p.S1985S	USP9X_ENST00000378308.2_Silent_p.S1985S	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1985					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.S1978S(1)|p.S1985S(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TTATGCCATCAGCCATTGAGA	0.368																																					Ovarian(172;1807 2695 35459 49286)	uc004dfb.2																			2	Substitution - coding silent(2)		lung(2)	lung(3)|breast(2)|ovary(1)	6						c.(5953-5955)TCA>TCT		ubiquitin specific protease 9, X-linked isoform							125.0	111.0	115.0					X																	41075775		2097	4225	6322	SO:0001819	synonymous_variant	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41075775A>T	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.5955A>T	X.37:g.41075775A>T						USP9X_uc004dfc.2_Silent_p.S1985S	p.S1985S	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN			35	6588	+			1985					O75550|Q8WWT3|Q8WX12	Silent	SNP	ENST00000324545.8	37	c.5955A>T	CCDS43930.1																																																																																				PASS	0.368	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		85	166	85	166	---	---	---	---
TBC1D25	4943	broad.mit.edu	37	X	48418240	48418240	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chrX:48418240A>G	ENST00000376771.4	+	6	1285	c.944A>G	c.(943-945)cAc>cGc	p.H315R	TBC1D25_ENST00000537536.1_Missense_Mutation_p.H61R|snoU13_ENST00000459609.1_RNA	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	315	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)	p.H315R(1)		large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						CGGGCGCTGCACGACCTGCTC	0.617																																						uc004dka.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(943-945)CAC>CGC		TBC1 domain family, member 25							40.0	34.0	36.0					X																	48418240		2203	4300	6503	SO:0001583	missense	4943					intracellular	Rab GTPase activator activity	g.chrX:48418240A>G	L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"""ornithine aminotransferase-like 1"""	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.944A>G	X.37:g.48418240A>G	ENSP00000365962:p.His315Arg					TBC1D25_uc011mly.1_Missense_Mutation_p.H257R|TBC1D25_uc004dkb.1_Missense_Mutation_p.H61R|TBC1D25_uc011mlz.1_Missense_Mutation_p.H61R|TBC1D25_uc011mma.1_Missense_Mutation_p.H61R|TBC1D25_uc004dkc.1_Missense_Mutation_p.H61R|TBC1D25_uc011mmb.1_Missense_Mutation_p.H319R|TBC1D25_uc011mmc.1_Missense_Mutation_p.H61R|TBC1D25_uc011mmd.1_Missense_Mutation_p.H61R	p.H315R	NM_002536	NP_002527	Q3MII6	TBC25_HUMAN			6	1055	+			315			Rab-GAP TBC.		Q08AN9|Q3MII4|Q8TAR9	Missense_Mutation	SNP	ENST00000376771.4	37	c.944A>G	CCDS35242.1	.	.	.	.	.	.	.	.	.	.	A	10.43	1.347666	0.24426	.	.	ENSG00000068354	ENST00000376771;ENST00000537536	T;T	0.09723	2.95;2.95	5.79	5.79	0.91817	Rab-GAP/TBC domain (4);	0.118587	0.64402	D	0.000012	T	0.07458	0.0188	N	0.03177	-0.4	0.30316	N	0.788015	P;P;B	0.52170	0.905;0.951;0.013	P;P;B	0.48166	0.495;0.569;0.021	T	0.16719	-1.0393	10	0.27785	T	0.31	-10.9217	12.9244	0.58252	1.0:0.0:0.0:0.0	.	319;257;315	B4DF03;B4DGU3;Q3MII6	.;.;TBC25_HUMAN	R	315;61	ENSP00000365962:H315R;ENSP00000444091:H61R	ENSP00000365962:H315R	H	+	2	0	TBC1D25	48303184	0.996000	0.38824	0.130000	0.21974	0.725000	0.41563	5.127000	0.64727	1.960000	0.56953	0.430000	0.28490	CAC		PASS	0.617	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060764.2	NM_002536		16	51	16	51	---	---	---	---
CCNB3	85417	broad.mit.edu	37	X	50094351	50094351	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chrX:50094351T>C	ENST00000376042.1	+	12	4370	c.4072T>C	c.(4072-4074)Tat>Cat	p.Y1358H	CCNB3_ENST00000348603.2_Missense_Mutation_p.Y254H|CCNB3_ENST00000376038.1_Missense_Mutation_p.Y254H|CCNB3_ENST00000276014.7_Missense_Mutation_p.Y1358H			Q8WWL7	CCNB3_HUMAN	cyclin B3	1358					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)		p.Y1358H(2)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CAAGGCTGTGTATTACAAGTA	0.453																																						uc004dox.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9						c.(4072-4074)TAT>CAT		cyclin B3 isoform 3							175.0	159.0	164.0					X																	50094351		2203	4300	6503	SO:0001583	missense	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50094351T>C	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.4072T>C	X.37:g.50094351T>C	ENSP00000365210:p.Tyr1358His					CCNB3_uc004doy.2_Missense_Mutation_p.Y1358H|CCNB3_uc004doz.2_Missense_Mutation_p.Y254H|CCNB3_uc010njq.2_Missense_Mutation_p.Y250H|CCNB3_uc004dpa.2_Missense_Mutation_p.Y197H	p.Y1358H	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN			12	4370	+	Ovarian(276;0.236)		1358					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	c.4072T>C	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	T	2.132	-0.398947	0.04865	.	.	ENSG00000147082	ENST00000376042;ENST00000376038;ENST00000348603;ENST00000276014	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	5.17	-5.49	0.02584	Cyclin, C-terminal (1);Cyclin-like (2);	0.820642	0.10956	N	0.615492	T	0.10852	0.0265	N	0.21324	0.655	0.09310	N	1	B;B;B	0.24963	0.029;0.01;0.115	B;B;B	0.26094	0.066;0.039;0.066	T	0.34428	-0.9829	9	.	.	.	.	8.4279	0.32739	0.1124:0.5872:0.0:0.3004	.	1358;254;1358	A8K8T9;Q8WWL7-2;Q8WWL7	.;.;CCNB3_HUMAN	H	1358;254;254;1358	ENSP00000365210:Y1358H;ENSP00000365206:Y254H;ENSP00000338682:Y254H;ENSP00000276014:Y1358H	.	Y	+	1	0	CCNB3	50111091	0.000000	0.05858	0.000000	0.03702	0.111000	0.19643	-0.174000	0.09839	-1.049000	0.03234	-0.424000	0.05967	TAT		PASS	0.453	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			146	321	146	321	---	---	---	---
CXorf67	340602	broad.mit.edu	37	X	51149908	51149908	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chrX:51149908C>T	ENST00000342995.2	+	1	142	c.40C>T	c.(40-42)Cag>Tag	p.Q14*				Q86X51	CX067_HUMAN	chromosome X open reading frame 67	14								p.Q14*(1)		breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						GCAGAAGCACCAGCAGGACGA	0.627																																						uc004dpj.2																			1	Substitution - Nonsense(1)		lung(1)								c.(40-42)CAG>TAG		hypothetical protein LOC340602							72.0	60.0	64.0					X																	51149908		2203	4300	6503	SO:0001587	stop_gained	0							g.chrX:51149908C>T	BC046248		Xp11.22	2014-04-30			ENSG00000187690	ENSG00000187690			33738	protein-coding gene	gene with protein product						23959973	Standard	XR_113306		Approved			Q86X51	OTTHUMG00000187481	ENST00000342995.2:c.40C>T	X.37:g.51149908C>T	ENSP00000342680:p.Gln14*						p.Q14*	NM_203407	NP_981952					1	142	+									Nonsense_Mutation	SNP	ENST00000342995.2	37	c.40C>T		.	.	.	.	.	.	.	.	.	.	C	16.49	3.136708	0.56936	.	.	ENSG00000187690	ENST00000342995	.	.	.	3.04	1.23	0.21249	.	2.898490	0.01245	N	0.008732	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	1.0E-4	3.685	0.08324	0.0:0.5581:0.2836:0.1582	.	.	.	.	X	14	.	ENSP00000342680:Q14X	Q	+	1	0	CXorf67	51166648	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	0.089000	0.15002	0.203000	0.20529	0.529000	0.55759	CAG		PASS	0.627	CXorf67-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_203407		9	36	9	36	---	---	---	---
STARD8	9754	broad.mit.edu	37	X	67936270	67936270	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chrX:67936270G>T	ENST00000252336.6	+	4	426	c.54G>T	c.(52-54)aaG>aaT	p.K18N	STARD8_ENST00000374599.3_Missense_Mutation_p.K98N|STARD8_ENST00000374597.3_Missense_Mutation_p.K18N	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	18					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)	p.K18N(2)|p.K98N(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						TTCAAAGCAAGCAGGTGAGTC	0.478																																						uc004dxa.2																			3	Substitution - Missense(3)		lung(3)	breast(3)|ovary(2)|pancreas(1)	6						c.(52-54)AAG>AAT		StAR-related lipid transfer (START) domain							133.0	108.0	117.0					X																	67936270		2203	4300	6503	SO:0001583	missense	9754				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity	g.chrX:67936270G>T	D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19161	protein-coding gene	gene with protein product		300689	"""START domain containing 8"""			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.54G>T	X.37:g.67936270G>T	ENSP00000252336:p.Lys18Asn					STARD8_uc004dxb.2_Missense_Mutation_p.K98N|STARD8_uc004dxc.3_Missense_Mutation_p.K18N	p.K18N	NM_014725	NP_055540	Q92502	STAR8_HUMAN			4	426	+			18					A8K6T2|D3DVT9|Q5JST0|Q68DG7	Missense_Mutation	SNP	ENST00000252336.6	37	c.54G>T	CCDS14390.1	.	.	.	.	.	.	.	.	.	.	g	17.35	3.368063	0.61513	.	.	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	T;T;T	0.41065	2.61;1.01;2.61	3.79	2.91	0.33838	.	0.000000	0.64402	D	0.000003	T	0.59770	0.2218	M	0.80746	2.51	0.29586	N	0.848765	D;D	0.71674	0.998;0.997	D;D	0.68943	0.961;0.916	T	0.56817	-0.7916	10	0.62326	D	0.03	.	8.1354	0.31052	0.1276:0.0:0.8724:0.0	.	98;18	Q92502-2;Q92502	.;STAR8_HUMAN	N	18;98;18	ENSP00000252336:K18N;ENSP00000363727:K98N;ENSP00000363725:K18N	ENSP00000252336:K18N	K	+	3	2	STARD8	67852995	0.998000	0.40836	1.000000	0.80357	0.787000	0.44495	0.544000	0.23253	1.893000	0.54813	0.597000	0.82753	AAG		PASS	0.478	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2	NM_014725		18	61	18	61	---	---	---	---
OTUD6A	139562	broad.mit.edu	37	X	69283241	69283241	+	Nonstop_Mutation	SNP	G	G	T			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chrX:69283241G>T	ENST00000338352.2	+	1	901	c.867G>T	c.(865-867)taG>taT	p.*289Y		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU deubiquitinase 6A	0					protein K11-linked deubiquitination (GO:0035871)|protein K27-linked deubiquitination (GO:1990167)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)		ubiquitin-specific protease activity (GO:0004843)	p.*289Y(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						GTCTCCTGTAGGCCCCAAGGC	0.617																																						uc004dxu.1																			1	Nonstop extension(1)		lung(1)	lung(1)|skin(1)	2						c.(865-867)TAG>TAT		OTU domain containing 6A							8.0	7.0	7.0					X																	69283241		2026	4005	6031	SO:0001578	stop_lost	139562							g.chrX:69283241G>T	AK098697	CCDS14395.1	Xq13.1	2014-02-24	2014-02-24			ENSG00000189401		"""OTU domain containing"""	32312	protein-coding gene	gene with protein product		300714	"""OTU domain containing 6A"""			23827681	Standard	NM_207320		Approved	FLJ25831, HSHIN6, DUBA2	uc004dxu.1	Q7L8S5		ENST00000338352.2:c.867G>T	X.37:g.69283241G>T	ENSP00000339389:p.*289Tyrext*5						p.*289Y	NM_207320	NP_997203	Q7L8S5	OTU6A_HUMAN			1	901	+			289					B2RPB7	Nonstop_Mutation	SNP	ENST00000338352.2	37	c.867G>T	CCDS14395.1	.	.	.	.	.	.	.	.	.	.	G	3.143	-0.175840	0.06421	.	.	ENSG00000189401	ENST00000338352	.	.	.	3.46	2.6	0.31112	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.0866	0.19970	0.1438:0.0:0.8562:0.0	.	.	.	.	Y	289	.	.	X	+	3	2	OTUD6A	69199966	0.520000	0.26250	0.024000	0.17045	0.016000	0.09150	1.620000	0.36976	0.839000	0.34971	-0.269000	0.10298	TAG		PASS	0.617	OTUD6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358763.1	NM_207320		4	12	4	12	---	---	---	---
NLGN3	54413	broad.mit.edu	37	X	70389799	70389799	+	Missense_Mutation	SNP	C	C	A	rs200889500		TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chrX:70389799C>A	ENST00000358741.3	+	8	2702	c.2399C>A	c.(2398-2400)cCg>cAg	p.P800Q	NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000536169.1_Missense_Mutation_p.P760Q|NLGN3_ENST00000374051.3_Missense_Mutation_p.P780Q	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	800					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)	p.P800Q(1)|p.P780Q(1)		biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					CGGCGCTCCCCGGATGACATC	0.632																																					Esophageal Squamous(103;760 1488 16849 22250 40351)	uc004dzb.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2338-2340)CCG>CAG		neuroligin 3																																				SO:0001583	missense	54413				neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity	g.chrX:70389799C>A	AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.2399C>A	X.37:g.70389799C>A	ENSP00000351591:p.Pro800Gln					NLGN3_uc004dzc.2_Missense_Mutation_p.P663Q|NLGN3_uc011mps.1_Missense_Mutation_p.P760Q|NLGN3_uc004dze.2_Missense_Mutation_p.P598Q	p.P780Q	NM_018977	NP_061850	Q9NZ94	NLGN3_HUMAN			7	2643	+	Renal(35;0.156)		800			Cytoplasmic (Potential).		B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Missense_Mutation	SNP	ENST00000358741.3	37	c.2339C>A	CCDS55441.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.447092	0.63178	.	.	ENSG00000196338	ENST00000536169;ENST00000374051;ENST00000358741	D;D;D	0.82711	-1.55;-1.62;-1.64	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	D	0.91432	0.7296	M	0.81497	2.545	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.92736	0.6204	10	0.87932	D	0	.	17.4746	0.87656	0.0:1.0:0.0:0.0	.	760;800;780	D3DVV1;Q9NZ94;Q9NZ94-2	.;NLGN3_HUMAN;.	Q	760;780;800	ENSP00000445298:P760Q;ENSP00000363163:P780Q;ENSP00000351591:P800Q	ENSP00000351591:P800Q	P	+	2	0	NLGN3	70306524	1.000000	0.71417	0.988000	0.46212	0.778000	0.44026	7.651000	0.83577	2.310000	0.77875	0.525000	0.51046	CCG		PASS	0.632	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057121.1	NM_018977		9	13	9	13	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76938248	76938248	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chrX:76938248C>T	ENST00000373344.5	-	9	2714	c.2500G>A	c.(2500-2502)Gcc>Acc	p.A834T	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.A796T	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	834					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.A834T(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						GTGGTTCTGGcagcaccaatt	0.333			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.3				Rec	yes		X	Xq21.1	546	Mis|F|N	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			Pancreatic neuroendocrine tumors		3	Substitution - Missense(2)|Unknown(1)		lung(2)|bone(1)	haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30						c.(2500-2502)GCC>ACC		transcriptional regulator ATRX isoform 1	Phosphatidylserine(DB00144)						126.0	137.0	133.0					X																	76938248		2202	4293	6495	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76938248C>T	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.2500G>A	X.37:g.76938248C>T	ENSP00000362441:p.Ala834Thr					ATRX_uc004ecq.3_Missense_Mutation_p.A796T|ATRX_uc004eco.3_Missense_Mutation_p.A619T|ATRX_uc004ecr.2_Missense_Mutation_p.A766T|ATRX_uc010nlx.1_Missense_Mutation_p.A805T|ATRX_uc010nly.1_Missense_Mutation_p.A779T	p.A834T	NM_000489	NP_000480	P46100	ATRX_HUMAN			9	2732	-			834					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.2500G>A	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	1.102	-0.660918	0.03454	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.94046	-3.26;-3.34	5.43	1.66	0.24008	.	0.572873	0.18195	N	0.148710	D	0.89458	0.6721	L	0.59436	1.845	0.21719	N	0.999574	B;B;B;B	0.19073	0.003;0.033;0.001;0.003	B;B;B;B	0.18871	0.004;0.023;0.002;0.004	T	0.80799	-0.1221	10	0.62326	D	0.03	0.2526	5.5463	0.17065	0.0:0.5645:0.1291:0.3064	.	834;766;796;834	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	T	834;796;761	ENSP00000362441:A834T;ENSP00000378967:A796T	ENSP00000362441:A834T	A	-	1	0	ATRX	76824904	0.999000	0.42202	0.645000	0.29479	0.556000	0.35491	0.573000	0.23699	-0.037000	0.13646	0.466000	0.42574	GCC		PASS	0.333	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		24	566	24	566	---	---	---	---
CSTF2	1478	broad.mit.edu	37	X	100087736	100087736	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chrX:100087736C>A	ENST00000372972.2	+	10	1061	c.1045C>A	c.(1045-1047)Cca>Aca	p.P349T	CSTF2_ENST00000415585.2_Missense_Mutation_p.P369T	NM_001325.2	NP_001316.1	P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	349	Gly/Pro-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cleavage body (GO:0071920)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.P349T(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						TTACTTGGGACCACCTCATCA	0.493																																						uc004egh.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1045-1047)CCA>ACA		cleavage stimulation factor subunit 2							35.0	31.0	32.0					X																	100087736		2203	4300	6503	SO:0001583	missense	1478				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|protein binding|RNA binding	g.chrX:100087736C>A	BC017712	CCDS14473.1	Xq22.1	2013-02-12	2002-08-29		ENSG00000101811	ENSG00000101811		"""RNA binding motif (RRM) containing"""	2484	protein-coding gene	gene with protein product		300907	"""cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kD"""			1741396	Standard	XM_006724622		Approved		uc004egh.3	P33240	OTTHUMG00000022709	ENST00000372972.2:c.1045C>A	X.37:g.100087736C>A	ENSP00000362063:p.Pro349Thr					CSTF2_uc010nnd.2_Missense_Mutation_p.P369T|CSTF2_uc004egi.2_Missense_Mutation_p.P332T	p.P349T	NM_001325	NP_001316	P33240	CSTF2_HUMAN			10	1103	+			349			Gly/Pro-rich.		Q5H951|Q6LA74|Q8N502	Missense_Mutation	SNP	ENST00000372972.2	37	c.1045C>A	CCDS14473.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.098344	0.56183	.	.	ENSG00000101811	ENST00000415585;ENST00000372972;ENST00000458320	T;T	0.24908	2.24;1.83	4.92	4.92	0.64577	.	0.106561	0.64402	D	0.000006	T	0.43010	0.1228	L	0.54323	1.7	0.39472	D	0.967746	D;D;D	0.67145	0.976;0.996;0.965	P;D;P	0.65987	0.835;0.94;0.55	T	0.40079	-0.9582	10	0.56958	D	0.05	-6.9217	12.4481	0.55662	0.1675:0.8325:0.0:0.0	.	369;332;349	E7EWR4;P33240-2;P33240	.;.;CSTF2_HUMAN	T	369;349;325	ENSP00000387996:P369T;ENSP00000362063:P349T	ENSP00000362063:P349T	P	+	1	0	CSTF2	99974392	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	4.694000	0.61760	2.017000	0.59298	0.506000	0.49869	CCA		PASS	0.493	CSTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058926.1	NM_001325		11	52	11	52	---	---	---	---
MUM1L1	139221	broad.mit.edu	37	X	105451326	105451326	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chrX:105451326A>G	ENST00000357175.2	+	4	2550	c.1901A>G	c.(1900-1902)aAa>aGa	p.K634R	MUM1L1_ENST00000337685.2_Missense_Mutation_p.K634R|MUM1L1_ENST00000372552.1_Missense_Mutation_p.K634R	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	634						extracellular vesicular exosome (GO:0070062)		p.K634R(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GATAAAATTAAATTTATCCTA	0.338																																						uc004emf.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(1900-1902)AAA>AGA		melanoma associated antigen (mutated) 1-like 1							16.0	15.0	15.0					X																	105451326		1785	4021	5806	SO:0001583	missense	139221							g.chrX:105451326A>G	AK090835	CCDS55469.1	Xq22.3	2008-02-05			ENSG00000157502	ENSG00000157502			26583	protein-coding gene	gene with protein product							Standard	NM_152423		Approved	FLJ33516	uc004emf.2	Q5H9M0	OTTHUMG00000022146	ENST00000357175.2:c.1901A>G	X.37:g.105451326A>G	ENSP00000349699:p.Lys634Arg					MUM1L1_uc004emg.1_Missense_Mutation_p.K634R	p.K634R	NM_152423	NP_689636	Q5H9M0	MUML1_HUMAN			4	2550	+			634					D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Missense_Mutation	SNP	ENST00000357175.2	37	c.1901A>G	CCDS55469.1	.	.	.	.	.	.	.	.	.	.	A	0.184	-1.059792	0.01950	.	.	ENSG00000157502	ENST00000357175;ENST00000337685;ENST00000372552	T;T;T	0.52057	0.68;0.68;0.68	4.95	4.95	0.65309	.	0.108360	0.40728	N	0.001033	T	0.37237	0.0996	N	0.20530	0.585	0.32470	N	0.542887	P	0.49961	0.93	P	0.52823	0.71	T	0.34825	-0.9813	10	0.02654	T	1	-35.1132	9.9053	0.41372	1.0:0.0:0.0:0.0	.	634	Q5H9M0	MUML1_HUMAN	R	634	ENSP00000349699:K634R;ENSP00000338641:K634R;ENSP00000361632:K634R	ENSP00000338641:K634R	K	+	2	0	MUM1L1	105337982	1.000000	0.71417	0.998000	0.56505	0.521000	0.34408	3.385000	0.52485	1.942000	0.56320	0.417000	0.27973	AAA		PASS	0.338	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057795.1	NM_152423		5	20	5	20	---	---	---	---
DCAF12L2	340578	broad.mit.edu	37	X	125299528	125299528	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chrX:125299528G>A	ENST00000360028.2	-	1	406	c.380C>T	c.(379-381)tCa>tTa	p.S127L	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.S127L			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	127								p.S127L(2)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GATGTGGCCTGACTGCACGTC	0.642																																						uc004euk.1																			2	Substitution - Missense(2)		lung(2)	lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						c.(379-381)TCA>TTA		DDB1 and CUL4 associated factor 12-like 2							90.0	80.0	84.0					X																	125299528		2203	4300	6503	SO:0001583	missense	340578							g.chrX:125299528G>A	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.380C>T	X.37:g.125299528G>A	ENSP00000353128:p.Ser127Leu						p.S127L	NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN			1	407	-			127					B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.380C>T	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	g	10.94	1.493208	0.26774	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.48522	0.81;0.81	3.8	3.8	0.43715	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.45478	0.1344	M	0.61703	1.905	0.09310	N	1	P	0.39060	0.657	B	0.37650	0.255	T	0.44862	-0.9300	9	0.62326	D	0.03	.	10.1196	0.42612	0.0:0.0:1.0:0.0	.	127	Q5VW00	DC122_HUMAN	L	127	ENSP00000441489:S127L;ENSP00000353128:S127L	ENSP00000353128:S127L	S	-	2	0	DCAF12L2	125127209	1.000000	0.71417	0.003000	0.11579	0.002000	0.02628	5.922000	0.70036	2.143000	0.66587	0.540000	0.68198	TCA		PASS	0.642	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		48	139	48	139	---	---	---	---
BCORL1	63035	broad.mit.edu	37	X	129189940	129189940	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chrX:129189940G>T	ENST00000218147.7	+	13	5162	c.4965G>T	c.(4963-4965)gaG>gaT	p.E1655D	BCORL1_ENST00000540052.1_Missense_Mutation_p.E1655D|BCORL1_ENST00000359304.2_Missense_Mutation_p.E1525D|BCORL1_ENST00000303743.5_Missense_Mutation_p.E1729D			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1655					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.E1655D(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CCAAGGCCGAGTTCTACAGGC	0.597																																						uc004evb.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(2)|lung(1)	7						c.(4963-4965)GAG>GAT		BCL6 co-repressor-like 1							96.0	95.0	96.0					X																	129189940		2203	4300	6503	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129189940G>T	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.4965G>T	X.37:g.129189940G>T	ENSP00000218147:p.Glu1655Asp					BCORL1_uc004evc.1_Missense_Mutation_p.E491D	p.E1655D	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN			13	5079	+			1655					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.4965G>T	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	g	20.4	3.979623	0.74360	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	T;T;T;T;T	0.43688	0.94;0.96;0.95;0.94;1.01	4.59	4.59	0.56863	.	0.000000	0.34959	N	0.003555	T	0.58892	0.2154	M	0.71036	2.16	0.49213	D	0.999768	D;P	0.67145	0.996;0.534	D;P	0.76071	0.987;0.621	T	0.56751	-0.7927	10	0.30078	T	0.28	-19.9845	10.4257	0.44375	0.0918:0.0:0.9082:0.0	.	1729;1655	Q5H9F3-3;Q5H9F3	.;BCORL_HUMAN	D	1655;1729;1525;1655;1329	ENSP00000218147:E1655D;ENSP00000307541:E1729D;ENSP00000352253:E1525D;ENSP00000437775:E1655D;ENSP00000399483:E1329D	ENSP00000218147:E1655D	E	+	3	2	BCORL1	129017621	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	6.173000	0.71937	2.122000	0.65172	0.509000	0.49947	GAG		PASS	0.597	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		63	198	63	198	---	---	---	---
SLITRK4	139065	broad.mit.edu	37	X	142718090	142718090	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chrX:142718090G>A	ENST00000381779.4	-	2	1060	c.835C>T	c.(835-837)Cag>Tag	p.Q279*	SLITRK4_ENST00000356928.1_Nonsense_Mutation_p.Q279*|SLITRK4_ENST00000338017.4_Nonsense_Mutation_p.Q279*	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	279						integral component of membrane (GO:0016021)		p.Q279*(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TTTTCCAGCTGAGATGGAGGC	0.438																																						uc004fbx.2																			1	Substitution - Nonsense(1)		lung(1)	upper_aerodigestive_tract(1)|large_intestine(1)	2						c.(835-837)CAG>TAG		slit and trk like 4 protein precursor							127.0	111.0	117.0					X																	142718090		2203	4300	6503	SO:0001587	stop_gained	139065					integral to membrane		g.chrX:142718090G>A	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.835C>T	X.37:g.142718090G>A	ENSP00000371198:p.Gln279*					SLITRK4_uc004fby.2_Nonsense_Mutation_p.Q279*	p.Q279*	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN			2	1211	-	Acute lymphoblastic leukemia(192;6.56e-05)		279			Extracellular (Potential).		Q5JXG3|Q8TCM8|Q96DL3	Nonsense_Mutation	SNP	ENST00000381779.4	37	c.835C>T	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	G	37	6.077244	0.97262	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	.	.	.	5.88	5.88	0.94601	.	0.167658	0.39909	U	0.001229	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-7.9669	15.6957	0.77494	0.0:0.0:1.0:0.0	.	.	.	.	X	279	.	ENSP00000336627:Q279X	Q	-	1	0	SLITRK4	142545756	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.910000	0.69931	2.471000	0.83476	0.600000	0.82982	CAG		PASS	0.438	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		82	181	82	181	---	---	---	---
FMR1	2332	broad.mit.edu	37	X	147024736	147024736	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chrX:147024736G>C	ENST00000370475.4	+	14	1489	c.1361G>C	c.(1360-1362)cGt>cCt	p.R454P	FMR1_ENST00000370477.1_Missense_Mutation_p.R433P|FMR1_ENST00000492846.1_3'UTR|FMR1_ENST00000370471.3_Intron|FMR1_ENST00000439526.2_Missense_Mutation_p.R431P|FMR1_ENST00000370470.1_Missense_Mutation_p.R454P|FMR1_ENST00000218200.8_Missense_Mutation_p.R433P|FMR1_ENST00000440235.2_Missense_Mutation_p.R101P	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	454	Interaction with RANBP9.				central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R454P(1)		NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					CCACCAAATCGTACAGATAAG	0.448									Fragile X syndrome																													uc010nst.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1360-1362)CGT>CCT		fragile X mental retardation 1							183.0	158.0	166.0					X																	147024736		2203	4300	6503	SO:0001583	missense	2332	Fragile_X_syndrome	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding	g.chrX:147024736G>C	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"""premature ovarian failure 1"""	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.1361G>C	X.37:g.147024736G>C	ENSP00000359506:p.Arg454Pro					FMR1_uc004fcj.2_Missense_Mutation_p.R431P|FMR1_uc004fck.3_Missense_Mutation_p.R433P|FMR1_uc004fcl.3_Missense_Mutation_p.R294P|FMR1_uc011mxa.1_Missense_Mutation_p.R101P	p.R454P	NM_002024	NP_002015	Q06787	FMR1_HUMAN			14	1550	+	Acute lymphoblastic leukemia(192;6.56e-05)		454			Interaction with RANBP9.		A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Missense_Mutation	SNP	ENST00000370475.4	37	c.1361G>C	CCDS14682.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681635	0.68042	.	.	ENSG00000102081	ENST00000218200;ENST00000370477;ENST00000370475;ENST00000439526;ENST00000370470;ENST00000440235	T;T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23;1.23	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.58680	0.2139	M	0.61703	1.905	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.965;1.0;0.999;1.0	D;P;D;D;D	0.87578	0.994;0.898;0.996;0.916;0.998	T	0.56220	-0.8015	10	0.41790	T	0.15	-20.0485	17.5771	0.87953	0.0:0.0:1.0:0.0	.	101;454;349;433;431	F8W871;Q06787;Q59GC1;Q06787-8;G3V0J0	.;FMR1_HUMAN;.;.;.	P	433;433;454;431;454;101	ENSP00000218200:R433P;ENSP00000359508:R433P;ENSP00000359506:R454P;ENSP00000395923:R431P;ENSP00000359501:R454P;ENSP00000413764:R101P	ENSP00000218200:R433P	R	+	2	0	FMR1	146832428	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.593000	0.67550	2.367000	0.80283	0.600000	0.82982	CGT		PASS	0.448	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058655.1	NM_002024		73	252	73	252	---	---	---	---
TMEM185A	84548	broad.mit.edu	37	X	148685678	148685678	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chrX:148685678T>C	ENST00000316916.8	-	4	786	c.482A>G	c.(481-483)gAc>gGc	p.D161G	TMEM185A_ENST00000536359.1_Missense_Mutation_p.D102G|TMEM185A_ENST00000507237.1_Missense_Mutation_p.D161G	NM_032508.2	NP_115897.1	Q8NFB2	T185A_HUMAN	transmembrane protein 185A	161						dendrite (GO:0030425)|integral component of membrane (GO:0016021)		p.D161G(1)		kidney(1)|large_intestine(3)|lung(10)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GATGATCTTGTCCAGTCTTAA	0.299																																						uc011mxq.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(481-483)GAC>GGC		transmembrane protein 185A							72.0	66.0	68.0					X																	148685678		2202	4296	6498	SO:0001583	missense	84548					integral to membrane		g.chrX:148685678T>C	AF353675	CCDS14689.1, CCDS55523.1, CCDS76041.1	Xq28	2014-01-28	2007-02-05	2007-02-05	ENSG00000155984	ENSG00000269556			17125	protein-coding gene	gene with protein product		300031	"""chromosome X open reading frame 13"", ""family with sequence similarity 11, member A"""	CXorf13, FAM11A		12404111	Standard	NM_032508		Approved		uc022cgl.1	Q8NFB2	OTTHUMG00000022625	ENST00000316916.8:c.482A>G	X.37:g.148685678T>C	ENSP00000359449:p.Asp161Gly					HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|TMEM185A_uc011mxp.1_Missense_Mutation_p.D102G|TMEM185A_uc004fdo.2_Intron|TMEM185A_uc004fdp.3_Missense_Mutation_p.D78G	p.D161G	NM_032508	NP_115897	Q8NFB2	T185A_HUMAN			5	793	-	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		161			Helical; (Potential).		B3KTZ3|Q3SYH1|Q96CW3|Q96KE8	Missense_Mutation	SNP	ENST00000316916.8	37	c.482A>G	CCDS14689.1	.	.	.	.	.	.	.	.	.	.	t	16.54	3.153238	0.57259	.	.	ENSG00000155984	ENST00000316916;ENST00000536359;ENST00000507237	T;T;T	0.33216	1.42;1.42;1.42	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.37293	0.0998	M	0.81942	2.565	0.80722	D	1	B;B;P	0.37663	0.035;0.069;0.604	B;B;B	0.35931	0.016;0.053;0.214	T	0.39563	-0.9608	10	0.59425	D	0.04	-14.362	12.9066	0.58156	0.0:0.0:0.0:1.0	.	161;102;161	Q8NFB2;F5H5U0;E7EMM1	T185A_HUMAN;.;.	G	161;102;161	ENSP00000359449:D161G;ENSP00000443119:D102G;ENSP00000427766:D161G	ENSP00000359449:D161G	D	-	2	0	TMEM185A	148493473	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.420000	0.80191	1.637000	0.50538	0.478000	0.44815	GAC		PASS	0.299	TMEM185A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058710.4	NM_032508		5	143	5	143	---	---	---	---
PRRG3	79057	broad.mit.edu	37	X	150869314	150869314	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chrX:150869314G>C	ENST00000370353.3	+	4	895	c.505G>C	c.(505-507)Gtc>Ctc	p.V169L	PRRG3_ENST00000538575.1_Missense_Mutation_p.V169L			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	169						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.V169L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					CAGGACCACAGTCCGGCTAGA	0.672																																						uc004few.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(505-507)GTC>CTC		proline rich Gla (G-carboxyglutamic acid) 3							40.0	33.0	35.0					X																	150869314		2202	4299	6501	SO:0001583	missense	79057					extracellular region|integral to membrane	calcium ion binding	g.chrX:150869314G>C	AK074574	CCDS14699.1	Xq28	2008-02-05			ENSG00000130032	ENSG00000130032			30798	protein-coding gene	gene with protein product		300685				11171957	Standard	NM_024082		Approved	TMG3	uc022cgt.1	Q9BZD7	OTTHUMG00000024170	ENST00000370353.3:c.505G>C	X.37:g.150869314G>C	ENSP00000359378:p.Val169Leu						p.V169L	NM_024082	NP_076987	Q9BZD7	TMG3_HUMAN			4	895	+	Acute lymphoblastic leukemia(192;6.56e-05)		169			Cytoplasmic (Potential).		A1A523|A1A575|Q8N2N6	Missense_Mutation	SNP	ENST00000370353.3	37	c.505G>C	CCDS14699.1	.	.	.	.	.	.	.	.	.	.	G	5.173	0.217542	0.09810	.	.	ENSG00000130032	ENST00000538575;ENST00000370353	D;D	0.98192	-4.78;-4.78	4.31	2.52	0.30459	.	0.522560	0.18471	N	0.140208	D	0.93377	0.7888	N	0.22421	0.69	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	D	0.85367	0.1111	9	.	.	.	-20.2744	4.8991	0.13766	0.3645:0.0:0.6355:0.0	.	169	Q9BZD7	TMG3_HUMAN	L	169	ENSP00000440217:V169L;ENSP00000359378:V169L	.	V	+	1	0	PRRG3	150619970	0.010000	0.17322	0.081000	0.20488	0.217000	0.24651	0.595000	0.24029	0.961000	0.38030	0.523000	0.50628	GTC		PASS	0.672	PRRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060880.1	NM_024082		19	61	19	61	---	---	---	---
ATP2B3	492	broad.mit.edu	37	X	152818658	152818658	+	Silent	SNP	C	C	T	rs200802886		TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chrX:152818658C>T	ENST00000349466.2	+	12	2315	c.1989C>T	c.(1987-1989)aaC>aaT	p.N663N	ATP2B3_ENST00000370186.1_Silent_p.N649N|ATP2B3_ENST00000370181.2_Silent_p.N649N|ATP2B3_ENST00000263519.4_Silent_p.N663N|ATP2B3_ENST00000393842.1_Silent_p.N649N|ATP2B3_ENST00000359149.3_Silent_p.N663N			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	663					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.N663N(3)|p.N649N(1)		NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACTGGGACAACGAGAATGAGG	0.622													C|||	2	0.000529801	0.0015	0.0	3775	,	,		14697	0.0		0.0	False		,,,				2504	0.0					uc004fht.1																			4	Substitution - coding silent(4)		lung(4)	pancreas(1)	1						c.(1987-1989)AAC>AAT		plasma membrane calcium ATPase 3 isoform 3b							107.0	71.0	83.0					X																	152818658		2203	4300	6503	SO:0001819	synonymous_variant	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152818658C>T	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.1989C>T	X.37:g.152818658C>T						ATP2B3_uc004fhs.1_Silent_p.N663N	p.N663N	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN			11	2115	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		663			Cytoplasmic (Potential).		B7WNR8|B7WNY5|Q12995|Q16858	Silent	SNP	ENST00000349466.2	37	c.1989C>T	CCDS35440.1																																																																																				PASS	0.622	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		24	132	24	132	---	---	---	---
ATP2B3	492	broad.mit.edu	37	X	152821585	152821585	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chrX:152821585C>T	ENST00000349466.2	+	13	2463	c.2137C>T	c.(2137-2139)Cgg>Tgg	p.R713W	ATP2B3_ENST00000370186.1_Missense_Mutation_p.R699W|ATP2B3_ENST00000370181.2_Missense_Mutation_p.R699W|ATP2B3_ENST00000263519.4_Missense_Mutation_p.R713W|ATP2B3_ENST00000393842.1_Missense_Mutation_p.R699W|ATP2B3_ENST00000359149.3_Missense_Mutation_p.R713W			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	713					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.R713R(3)|p.R713W(3)|p.R699W(1)|p.R699R(1)		NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAACACGGCCCGGGCCATCGC	0.587																																						uc004fht.1																			8	Substitution - Missense(4)|Substitution - coding silent(4)		lung(8)	pancreas(1)	1						c.(2137-2139)CGG>TGG		plasma membrane calcium ATPase 3 isoform 3b							86.0	79.0	82.0					X																	152821585		2203	4300	6503	SO:0001583	missense	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152821585C>T	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.2137C>T	X.37:g.152821585C>T	ENSP00000343886:p.Arg713Trp					ATP2B3_uc004fhs.1_Missense_Mutation_p.R713W	p.R713W	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN			12	2263	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		713			Cytoplasmic (Potential).		B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	ENST00000349466.2	37	c.2137C>T	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.127906	0.56721	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	D;D;D;D;D;D	0.96232	-3.95;-3.95;-3.95;-3.95;-3.95;-3.95	4.87	3.99	0.46301	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.98482	0.9494	H	0.94264	3.515	0.53688	D	0.999978	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98869	1.0765	10	0.87932	D	0	-31.8564	12.6407	0.56709	0.1784:0.8215:0.0:0.0	.	713;713	Q16720;Q16720-2	AT2B3_HUMAN;.	W	699;713;699;713;713;699	ENSP00000359205:R699W;ENSP00000343886:R713W;ENSP00000377425:R699W;ENSP00000352062:R713W;ENSP00000263519:R713W;ENSP00000359200:R699W	ENSP00000263519:R713W	R	+	1	2	ATP2B3	152474779	0.936000	0.31750	0.994000	0.49952	0.555000	0.35460	2.020000	0.41010	0.923000	0.37045	-0.436000	0.05848	CGG		PASS	0.587	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		49	120	49	120	---	---	---	---
PNCK	139728	broad.mit.edu	37	X	152937050	152937050	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chrX:152937050C>A	ENST00000370150.1	-	6	670	c.492G>T	c.(490-492)caG>caT	p.Q164H	PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000340888.3_Missense_Mutation_p.Q164H|PNCK_ENST00000370142.1_Missense_Mutation_p.Q164H|PNCK_ENST00000370145.4_Missense_Mutation_p.Q181H|PNCK_ENST00000393831.2_Missense_Mutation_p.Q164H|PNCK_ENST00000447676.2_Missense_Mutation_p.Q247H			Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	164	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.Q181H(1)|p.Q164H(1)		breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGTTCCCAGCCTGGATTTTGG	0.597																																						uc011myu.1																			2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(739-741)CAG>CAT		pregnancy upregulated non-ubiquitously expressed							123.0	114.0	117.0					X																	152937050		2203	4300	6503	SO:0001583	missense	139728					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chrX:152937050C>A	BC033746	CCDS35503.2, CCDS48189.1	Xq28	2013-10-14	2013-10-14		ENSG00000130822	ENSG00000130822			13415	protein-coding gene	gene with protein product		300680	"""pregnancy upregulated non-ubiquitously expressed CaM kinase"", ""pregnancy up-regulated non-ubiquitously expressed CaM kinase"""			12477932	Standard	NM_001039582		Approved	MGC45419, CaMK1b	uc011myu.2	Q6P2M8	OTTHUMG00000024216	ENST00000370150.1:c.492G>T	X.37:g.152937050C>A	ENSP00000359169:p.Gln164His					PNCK_uc011myt.1_Missense_Mutation_p.Q181H|PNCK_uc004fia.2_Missense_Mutation_p.Q176H|PNCK_uc004fhz.3_Missense_Mutation_p.Q62H|PNCK_uc010nuh.2_3'UTR|PNCK_uc011myv.1_Missense_Mutation_p.Q191H|PNCK_uc011myw.1_Missense_Mutation_p.Q191H	p.Q247H	NM_001039582	NP_001034671	Q6P2M8	KCC1B_HUMAN			6	927	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		164			Protein kinase.		B4DJR8|B4E1A6|B7WPG0|D3DWU7|Q8N4R0	Missense_Mutation	SNP	ENST00000370150.1	37	c.741G>T		.	.	.	.	.	.	.	.	.	.	c	17.01	3.278264	0.59758	.	.	ENSG00000130822	ENST00000340888;ENST00000370150;ENST00000393831;ENST00000370142;ENST00000370145;ENST00000447676;ENST00000439087;ENST00000422811	T;T;T;T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86;1.86;1.86;1.86	4.91	2.14	0.27477	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.149227	0.31268	N	0.007956	T	0.27419	0.0673	N	0.13003	0.285	0.39502	D	0.968217	D;D;D;D	0.65815	0.99;0.995;0.966;0.966	D;P;P;P	0.64506	0.926;0.885;0.837;0.837	T	0.06481	-1.0824	10	0.66056	D	0.02	-22.4558	8.6926	0.34275	0.0:0.7285:0.0:0.2715	.	191;247;181;164	B4DJG4;Q6P2M8-5;B4E1A6;Q6P2M8	.;.;.;KCC1B_HUMAN	H	164;164;164;164;181;247;164;164	ENSP00000340586:Q164H;ENSP00000359169:Q164H;ENSP00000377417:Q164H;ENSP00000359161:Q164H;ENSP00000359164:Q181H;ENSP00000405950:Q247H;ENSP00000415770:Q164H;ENSP00000391772:Q164H	ENSP00000340586:Q164H	Q	-	3	2	PNCK	152590244	0.003000	0.15002	0.995000	0.50966	0.912000	0.54170	-0.043000	0.12043	0.016000	0.14998	-0.295000	0.09555	CAG		PASS	0.597	PNCK-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000061044.2	NM_198452		74	206	74	206	---	---	---	---
PDZD4	57595	broad.mit.edu	37	X	153070266	153070266	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chrX:153070266G>T	ENST00000164640.4	-	8	1043	c.852C>A	c.(850-852)gaC>gaA	p.D284E	PDZD4_ENST00000544474.1_Missense_Mutation_p.D175E|PDZD4_ENST00000393758.2_Missense_Mutation_p.D209E|PDZD4_ENST00000475140.1_5'Flank	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	284						cytoplasm (GO:0005737)		p.D284E(1)		breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGTGCTCTCGTCAGTCCGGC	0.667																																						uc004fiz.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(850-852)GAC>GAA		PDZ domain containing 4							44.0	35.0	38.0					X																	153070266		2201	4296	6497	SO:0001583	missense	57595					cell cortex		g.chrX:153070266G>T	AK091444	CCDS14732.1	Xq28	2008-02-05		2006-01-24	ENSG00000067840	ENSG00000067840			21167	protein-coding gene	gene with protein product		300634		PDZK4		10819331, 15077175	Standard	NM_032512		Approved	KIAA1444, LU1, FLJ34125, PDZRN4L	uc004fiz.1	Q76G19	OTTHUMG00000024209	ENST00000164640.4:c.852C>A	X.37:g.153070266G>T	ENSP00000164640:p.Asp284Glu					PDZD4_uc004fiy.1_Missense_Mutation_p.D209E|PDZD4_uc004fix.2_Missense_Mutation_p.D188E|PDZD4_uc004fja.1_Missense_Mutation_p.D290E|PDZD4_uc011mze.1_Missense_Mutation_p.D175E	p.D284E	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN			8	1102	-	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		284					B3KXB1|B7ZKY3|Q8NB75|Q9BUH9|Q9P284	Missense_Mutation	SNP	ENST00000164640.4	37	c.852C>A	CCDS14732.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.066056	0.36470	.	.	ENSG00000067840	ENST00000164640;ENST00000393758;ENST00000537633;ENST00000544474	T;T;T	0.06768	3.26;3.29;3.36	5.15	-8.07	0.01098	.	0.113641	0.56097	D	0.000021	T	0.21347	0.0514	M	0.67397	2.05	0.32699	N	0.513128	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.981;0.997;0.997;0.999;1.0	T	0.37731	-0.9693	10	0.87932	D	0	-29.7223	17.5605	0.87905	0.8042:0.0:0.1958:0.0	.	175;290;284;209;188	B7ZKY3;Q17RL8;Q76G19;D3DWW0;B3KVR9	.;.;PDZD4_HUMAN;.;.	E	284;209;188;175	ENSP00000164640:D284E;ENSP00000377355:D209E;ENSP00000442033:D175E	ENSP00000164640:D284E	D	-	3	2	PDZD4	152723460	0.005000	0.15991	0.031000	0.17742	0.375000	0.29983	-1.101000	0.03336	-2.188000	0.00758	-0.344000	0.07964	GAC		PASS	0.667	PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061013.3	NM_032512		10	85	10	85	---	---	---	---
FLNA	2316	broad.mit.edu	37	X	153585881	153585881	+	Silent	SNP	G	G	A	rs200835571		TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chrX:153585881G>A	ENST00000369850.3	-	29	5102	c.4866C>T	c.(4864-4866)taC>taT	p.Y1622Y	FLNA_ENST00000369856.3_De_novo_Start_OutOfFrame|FLNA_ENST00000360319.4_Silent_p.Y1622Y|FLNA_ENST00000344736.4_Silent_p.Y1622Y|FLNA_ENST00000422373.1_Silent_p.Y1622Y	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1622					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)	p.Y1622Y(1)		breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGTCACCACCGTACTTGATGA	0.617													.|||	2	0.000529801	0.0	0.0	3775	,	,		14387	0.0		0.0	False		,,,				2504	0.002					uc004fkk.2																			1	Substitution - coding silent(1)		lung(1)	breast(6)	6						c.(4864-4866)TAC>TAT		filamin A, alpha isoform 2		G	,	1,3789		0,1,0,1610,568	146.0	141.0	142.0		4866,4866	-2.1	1.0	X		142	5,6643		0,3,2,2404,1832	no	coding-synonymous,coding-synonymous	FLNA	NM_001110556.1,NM_001456.3	,	0,4,2,4014,2400	AA,AG,A,GG,G		0.0752,0.0264,0.0575	,	1622/2648,1622/2640	153585881	6,10432	2179	4241	6420	SO:0001819	synonymous_variant	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153585881G>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.4866C>T	X.37:g.153585881G>A						FLNA_uc011mzn.1_Translation_Start_Site|FLNA_uc010nuu.1_Silent_p.Y1622Y	p.Y1622Y	NM_001110556	NP_001104026	P21333	FLNA_HUMAN			29	5115	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1622			Filamin 14.		E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	ENST00000369850.3	37	c.4866C>T	CCDS48194.1																																																																																				PASS	0.617	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			19	38	19	38	---	---	---	---
PDS5A	23244	broad.mit.edu	37	4	39851220	39851220	+	Frame_Shift_Del	DEL	G	G	-			TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr4:39851220delG	ENST00000303538.8	-	27	3678	c.3139delC	c.(3139-3141)catfs	p.H1047fs		NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						ATAAAGGCATGGCTATTGTTT	0.378																																						uc003guv.3																			0					0						c.(3139-3141)CATfs		PDS5, regulator of cohesion maintenance, homolog							135.0	124.0	128.0					4																	39851220		1883	4134	6017	SO:0001589	frameshift_variant	23244				cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	g.chr4:39851220delG	AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.3139delC	4.37:g.39851220delG	ENSP00000303427:p.His1047fs					PDS5A_uc010ifo.2_Frame_Shift_Del_p.H1007fs	p.H1047fs	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN			27	3679	-			1047						Frame_Shift_Del	DEL	ENST00000303538.8	37	c.3139delC	CCDS47045.1																																																																																					0.378	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200		48	28	48	28	---	---	---	---
COLEC12	81035	broad.mit.edu	37	18	334892	334904	+	Frame_Shift_Del	DEL	GCTCCCCAACGGT	GCTCCCCAACGGT	-	rs531789462|rs376499684|rs186088998	byFrequency	TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr18:334892_334904delGCTCCCCAACGGT	ENST00000400256.3	-	6	1861_1873	c.1654_1666delACCGTTGGGGAGC	c.(1654-1668)accgttggggagcctfs	p.TVGEP552fs		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	552	Collagen-like 3.				carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)	p.V553F(1)|p.V553A(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GGCACCCCAGGCTCCCCAACGGTGCCCTGAAGT	0.737																																						uc002kkm.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(1654-1668)ACCGTTGGGGAGCCTfs		collectin sub-family member 12																																				SO:0001589	frameshift_variant	81035				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity	g.chr18:334892_334904delGCTCCCCAACGGT	AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"""Collectins"""	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.1654_1666delACCGTTGGGGAGC	18.37:g.334892_334904delGCTCCCCAACGGT	ENSP00000383115:p.Thr552fs						p.T552fs	NM_130386	NP_569057	Q5KU26	COL12_HUMAN			6	1869_1881	-		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)	552_556			Collagen-like 3.|Extracellular (Potential).		Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Frame_Shift_Del	DEL	ENST00000400256.3	37	c.1654_1666delACCGTTGGGGAGC	CCDS32782.1																																																																																					0.737	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1			3	5	3	5	---	---	---	---
ZNF516	9658	broad.mit.edu	37	18	74153304	74153308	+	Frame_Shift_Del	DEL	GCTGG	GCTGG	-	rs377322056		TCGA-66-2786-01A-01D-1522-08	TCGA-66-2786-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	999a6582-33cf-47ca-b268-9b2da102e99b	e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f	g.chr18:74153304_74153308delGCTGG	ENST00000443185.2	-	3	2020_2024	c.1703_1707delCCAGC	c.(1702-1707)cccagcfs	p.PS568fs	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	568					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		AGCCAGGGCTGCTGGGCTGGGAGGC	0.741																																						uc010dqx.1																			0				ovary(1)	1						c.(1702-1707)CCCAGCfs		zinc finger protein 516																																				SO:0001589	frameshift_variant	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74153304_74153308delGCTGG	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.1703_1707delCCAGC	18.37:g.74153309_74153313delGCTGG	ENSP00000394757:p.Pro568fs					ZNF516_uc002lme.2_RNA	p.P568fs	NM_014643	NP_055458	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	2	1938_1942	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	568_569						Frame_Shift_Del	DEL	ENST00000443185.2	37	c.1703_1707delCCAGC																																																																																						0.741	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		20	10	20	10	---	---	---	---
