#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
WRAP73	49856	broad.mit.edu	37	1	3553570	3553570	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr1:3553570G>A	ENST00000270708.7	-	5	578	c.505C>T	c.(505-507)Cag>Tag	p.Q169*	WRAP73_ENST00000378322.3_Nonsense_Mutation_p.Q169*	NM_017818.3	NP_060288.3	Q9P2S5	WRP73_HUMAN	WD repeat containing, antisense to TP73	169						centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.Q169*(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						CGCAGGAGCTGCCAATCACTG	0.562																																						uc001ako.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(505-507)CAG>TAG		WD repeat domain 8							70.0	59.0	63.0					1																	3553570		2203	4297	6500	SO:0001587	stop_gained	49856					centrosome	protein binding	g.chr1:3553570G>A	AB034912, EF494669	CCDS48.1	1p36.3	2013-05-21	2011-04-13	2011-04-13	ENSG00000116213	ENSG00000116213		"""WD repeat domain containing"""	12759	protein-coding gene	gene with protein product		606040	"""WD repeat domain 8"""	WDR8			Standard	NM_017818		Approved		uc001ako.3	Q9P2S5	OTTHUMG00000000612	ENST00000270708.7:c.505C>T	1.37:g.3553570G>A	ENSP00000270708:p.Gln169*					WDR8_uc001akn.3_Nonsense_Mutation_p.Q169*|WDR8_uc010nzi.1_Nonsense_Mutation_p.Q169*	p.Q169*	NM_017818	NP_060288	Q9P2S5	WRP73_HUMAN		Epithelial(90;4.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.16e-22)|GBM - Glioblastoma multiforme(42;1.05e-14)|Colorectal(212;1.19e-05)|BRCA - Breast invasive adenocarcinoma(365;2.67e-05)|COAD - Colon adenocarcinoma(227;5.82e-05)|Kidney(185;0.000364)|KIRC - Kidney renal clear cell carcinoma(229;0.00223)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)	5	613	-	all_cancers(77;0.0128)|all_epithelial(69;0.00526)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	169					Q5T0D6|Q9BUH7|Q9NTK7|Q9NX56	Nonsense_Mutation	SNP	ENST00000270708.7	37	c.505C>T	CCDS48.1	.	.	.	.	.	.	.	.	.	.	G	38	6.852296	0.97885	.	.	ENSG00000116213	ENST00000270708;ENST00000378322;ENST00000424367;ENST00000419924	.	.	.	4.47	4.47	0.54385	.	0.106561	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-34.2548	16.4881	0.84190	0.0:0.0:1.0:0.0	.	.	.	.	X	169	.	ENSP00000270708:Q169X	Q	-	1	0	WRAP73	3543430	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.263000	0.95617	2.191000	0.70037	0.655000	0.94253	CAG		PASS	0.562	WRAP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001470.1			5	17	5	17	---	---	---	---
PLEKHM2	23207	broad.mit.edu	37	1	16054794	16054794	+	Silent	SNP	C	C	A			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr1:16054794C>A	ENST00000375799.3	+	11	2090	c.1863C>A	c.(1861-1863)ggC>ggA	p.G621G	PLEKHM2_ENST00000375793.2_Silent_p.G601G|RP11-288I21.1_ENST00000453804.1_RNA	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	621					Golgi organization (GO:0007030)	cytoplasm (GO:0005737)	kinesin binding (GO:0019894)	p.G621G(1)|p.G724G(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		ACATGGAGGGCAACCTGCAGC	0.672																																						uc010obo.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1861-1863)GGC>GGA		pleckstrin homology domain containing, family M							38.0	47.0	44.0					1																	16054794		2138	4251	6389	SO:0001819	synonymous_variant	23207				Golgi organization	cytoplasm	kinesin binding	g.chr1:16054794C>A	AB020649	CCDS44063.1	1p36.13	2013-01-10			ENSG00000116786	ENSG00000116786		"""Pleckstrin homology (PH) domain containing"""	29131	protein-coding gene	gene with protein product		609613				10048485	Standard	NM_015164		Approved	KIAA0842	uc010obo.2	Q8IWE5	OTTHUMG00000003062	ENST00000375799.3:c.1863C>A	1.37:g.16054794C>A							p.G621G	NM_015164	NP_055979	Q8IWE5	PKHM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)	11	2090	+		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	621					O94928|Q5VT65|Q6NUH9|Q7L8G1|Q8IVT7|Q8N2T4|Q96AY0|Q9NTF7	Silent	SNP	ENST00000375799.3	37	c.1863C>A	CCDS44063.1																																																																																				PASS	0.672	PLEKHM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008463.1	NM_015164		8	9	8	9	---	---	---	---
USP48	84196	broad.mit.edu	37	1	22063027	22063027	+	Silent	SNP	T	T	C			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr1:22063027T>C	ENST00000308271.9	-	9	1731	c.1083A>G	c.(1081-1083)ccA>ccG	p.P361P	USP48_ENST00000421625.2_Silent_p.P361P|USP48_ENST00000400301.1_Silent_p.P361P|USP48_ENST00000529637.1_Silent_p.P361P	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	361	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)	p.P361P(1)		NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		CACCAGACTGTGGATCTTTCA	0.443																																						uc001bfb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)	2						c.(1081-1083)CCA>CCG		ubiquitin specific protease 48 isoform a							142.0	129.0	133.0					1																	22063027		2203	4300	6503	SO:0001819	synonymous_variant	84196				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:22063027T>C	AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"""Ubiquitin-specific peptidases"""	18533	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"", ""ubiquitin specific protease 48"""	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.1083A>G	1.37:g.22063027T>C						USP48_uc010odq.1_Silent_p.P361P|USP48_uc009vqc.2_Silent_p.P361P|USP48_uc001bfc.2_Silent_p.P361P|USP48_uc001bfe.1_Silent_p.P361P|USP48_uc001bff.2_Silent_p.P361P	p.P361P	NM_032236	NP_115612	Q86UV5	UBP48_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)	9	1321	-		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	361					B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Silent	SNP	ENST00000308271.9	37	c.1083A>G	CCDS30623.1																																																																																				PASS	0.443	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021372.1	NM_032236		14	40	14	40	---	---	---	---
S100PBP	64766	broad.mit.edu	37	1	33321622	33321622	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr1:33321622G>T	ENST00000373475.5	+	7	1464	c.1210G>T	c.(1210-1212)Gac>Tac	p.D404Y	S100PBP_ENST00000373476.1_Missense_Mutation_p.D404Y	NM_022753.3	NP_073590.2			S100P binding protein									p.D404Y(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GCGTCTCCCAGACTTCTCGTA	0.493																																						uc001bvz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1210-1212)GAC>TAC		S100P binding protein isoform a							115.0	103.0	107.0					1																	33321622		2203	4300	6503	SO:0001583	missense	64766					nucleus	calcium-dependent protein binding	g.chr1:33321622G>T	BX647916	CCDS30666.1	1p35.1	2008-02-05			ENSG00000116497	ENSG00000116497			25768	protein-coding gene	gene with protein product	"""S100P binding protein 1"""	611889				12477932	Standard	NM_022753		Approved	FLJ12903, S100PBPR	uc001bwc.4	Q96BU1	OTTHUMG00000003955	ENST00000373475.5:c.1210G>T	1.37:g.33321622G>T	ENSP00000362574:p.Asp404Tyr					S100PBP_uc001bwc.2_Missense_Mutation_p.D404Y|S100PBP_uc001bwd.2_RNA	p.D404Y	NM_022753	NP_073590	Q96BU1	S1PBP_HUMAN			7	1487	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	404						Missense_Mutation	SNP	ENST00000373475.5	37	c.1210G>T	CCDS30666.1	.	.	.	.	.	.	.	.	.	.	G	9.912	1.209866	0.22289	.	.	ENSG00000116497	ENST00000373476;ENST00000373475	.	.	.	4.24	2.36	0.29203	.	0.592815	0.16538	N	0.210092	T	0.41073	0.1143	L	0.60455	1.87	0.18873	N	0.999987	B	0.22683	0.073	B	0.25884	0.064	T	0.42899	-0.9424	9	0.87932	D	0	0.7297	5.3848	0.16213	0.1017:0.0:0.7001:0.1982	.	404	Q96BU1	S1PBP_HUMAN	Y	404	.	ENSP00000362574:D404Y	D	+	1	0	S100PBP	33094209	0.330000	0.24705	0.018000	0.16275	0.215000	0.24574	2.103000	0.41806	0.736000	0.32559	-0.140000	0.14226	GAC		PASS	0.493	S100PBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011266.1	NM_022753		7	33	7	33	---	---	---	---
GRIK3	2899	broad.mit.edu	37	1	37307519	37307519	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr1:37307519G>A	ENST00000373091.3	-	10	1364	c.1348C>T	c.(1348-1350)Cgg>Tgg	p.R450W	GRIK3_ENST00000373093.4_Missense_Mutation_p.R450W	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	450					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)	p.R450W(2)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				TCTGATTTCCGAAACATGACG	0.567																																						uc001caz.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(3)|skin(2)|large_intestine(1)|breast(1)	7						c.(1348-1350)CGG>TGG		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						142.0	131.0	135.0					1																	37307519		2203	4300	6503	SO:0001583	missense	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37307519G>A	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.1348C>T	1.37:g.37307519G>A	ENSP00000362183:p.Arg450Trp					GRIK3_uc001cba.1_Missense_Mutation_p.R450W	p.R450W	NM_000831	NP_000822	Q13003	GRIK3_HUMAN			10	1483	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	450			Extracellular (Potential).		A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	c.1348C>T	CCDS416.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.061139	0.55432	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	T;T	0.11930	2.73;2.73	4.95	4.03	0.46877	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.063724	0.64402	D	0.000006	T	0.35856	0.0946	M	0.80183	2.485	0.40728	D	0.982729	D;D	0.89917	1.0;1.0	D;D	0.63597	0.916;0.916	T	0.35025	-0.9805	10	0.87932	D	0	.	12.6274	0.56638	0.0:0.0:0.5737:0.4262	.	450;450	A9Z1Z8;Q13003	.;GRIK3_HUMAN	W	450	ENSP00000362183:R450W;ENSP00000362185:R450W	ENSP00000362183:R450W	R	-	1	2	GRIK3	37080106	1.000000	0.71417	1.000000	0.80357	0.446000	0.32137	3.851000	0.55926	1.195000	0.43115	0.655000	0.94253	CGG		PASS	0.567	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		22	79	22	79	---	---	---	---
DOCK7	85440	broad.mit.edu	37	1	62973692	62973692	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr1:62973692C>T	ENST00000340370.5	-	34	4341	c.4324G>A	c.(4324-4326)Gga>Aga	p.G1442R	DOCK7_ENST00000251157.5_Missense_Mutation_p.G1464R	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1473					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)	p.G1442R(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GCCAGGTTTCCATCAATCAGT	0.303																																						uc001daq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(4390-4392)GGA>AGA		dedicator of cytokinesis 7							127.0	121.0	123.0					1																	62973692		2203	4299	6502	SO:0001583	missense	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:62973692C>T		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.4324G>A	1.37:g.62973692C>T	ENSP00000340742:p.Gly1442Arg					DOCK7_uc001dan.2_Missense_Mutation_p.G1325R|DOCK7_uc001dao.2_Missense_Mutation_p.G1325R|DOCK7_uc001dap.2_Missense_Mutation_p.G1442R|DOCK7_uc001dam.2_Missense_Mutation_p.G644R|DOCK7_uc010oov.1_Missense_Mutation_p.G203R	p.G1464R	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN			35	4424	-			1473					Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	c.4390G>A	CCDS30734.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.9|27.9	4.870511|4.870511	0.91587|0.91587	.|.	.|.	ENSG00000116641|ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000395441|ENST00000454575	T;T|.	0.47869|.	0.83;0.83|.	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.76350|.	0.3975|.	M|M	0.72353|0.72353	2.195|2.195	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;0.996;0.992|.	D;D;D;D;D;P|.	0.97110|.	1.0;0.999;1.0;1.0;0.937;0.903|.	T|.	0.74942|.	-0.3492|.	10|.	0.62326|.	D|.	0.03|.	.|.	19.4412|19.4412	0.94821|0.94821	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1473;1464;1442;1433;1433;1464|.	Q96N67;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6|.	DOCK7_HUMAN;.;.;.;.;.|.	R|X	1473;1464;1442;203|635	ENSP00000251157:G1464R;ENSP00000340742:G1442R|.	ENSP00000251157:G1464R|.	G|W	-|-	1|2	0|0	DOCK7|DOCK7	62746280|62746280	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.487000|7.487000	0.81328|0.81328	2.583000|2.583000	0.87209|0.87209	0.650000|0.650000	0.86243|0.86243	GGA|TGG		PASS	0.303	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		6	22	6	22	---	---	---	---
LEPR	3953	broad.mit.edu	37	1	66102541	66102541	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr1:66102541G>A	ENST00000349533.6	+	20	3526	c.3341G>A	c.(3340-3342)aGa>aAa	p.R1114K	LEPR_ENST00000406510.3_Missense_Mutation_p.R181K	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)	p.R1114K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		ACGGACATCAGAGTTCTCCAG	0.433																																						uc001dci.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(3340-3342)AGA>AAA		leptin receptor isoform 1							71.0	69.0	70.0					1																	66102541		2203	4300	6503	SO:0001583	missense	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66102541G>A	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.3341G>A	1.37:g.66102541G>A	ENSP00000330393:p.Arg1114Lys					LEPR_uc009waq.2_3'UTR	p.R1114K	NM_002303	NP_002294	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	20	3543	+			1114			Cytoplasmic (Potential).		Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	c.3341G>A	CCDS631.1	.	.	.	.	.	.	.	.	.	.	G	3.098	-0.185394	0.06340	.	.	ENSG00000116678	ENST00000349533;ENST00000406510	T	0.53640	0.61	5.37	3.39	0.38822	.	0.459196	0.25349	N	0.031315	T	0.11750	0.0286	L	0.36672	1.1	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.29518	-1.0009	10	0.06099	T	0.92	-10.789	7.5352	0.27706	0.1371:0.2581:0.6048:0.0	.	1114	P48357	LEPR_HUMAN	K	1114;181	ENSP00000330393:R1114K	ENSP00000330393:R1114K	R	+	2	0	LEPR	65875129	0.021000	0.18746	0.985000	0.45067	0.010000	0.07245	1.227000	0.32576	1.226000	0.43582	-0.291000	0.09656	AGA		PASS	0.433	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		8	25	8	25	---	---	---	---
PDE4B	5142	broad.mit.edu	37	1	66713282	66713282	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr1:66713282G>T	ENST00000329654.4	+	4	608	c.421G>T	c.(421-423)Gac>Tac	p.D141Y	PDE4B_ENST00000423207.2_Missense_Mutation_p.D126Y|PDE4B_ENST00000371049.3_Missense_Mutation_p.D141Y	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	141					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.D126Y(1)|p.D141Y(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	ATCAGACAGCGACTATGACTT	0.522																																						uc001dcn.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(421-423)GAC>TAC		phosphodiesterase 4B isoform 1	Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)						130.0	120.0	123.0					1																	66713282		2203	4300	6503	SO:0001583	missense	5142				signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr1:66713282G>T	L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"""Phosphodiesterases"""	8781	protein-coding gene	gene with protein product	"""phosphodiesterase E4 dunce homolog (Drosophila)"""	600127	"""phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)"", ""phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"""	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.421G>T	1.37:g.66713282G>T	ENSP00000332116:p.Asp141Tyr					PDE4B_uc009war.2_Missense_Mutation_p.D49Y|PDE4B_uc001dco.2_Missense_Mutation_p.D141Y|PDE4B_uc001dcp.2_Missense_Mutation_p.D126Y	p.D141Y	NM_001037341	NP_001032418	Q07343	PDE4B_HUMAN			4	612	+			141					A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Missense_Mutation	SNP	ENST00000329654.4	37	c.421G>T	CCDS632.1	.	.	.	.	.	.	.	.	.	.	G	32	5.173053	0.94807	.	.	ENSG00000184588	ENST00000329654;ENST00000341517;ENST00000371049;ENST00000423207;ENST00000412480	T;T;T;T;D	0.83506	-0.81;-0.81;-0.81;-0.81;-1.73	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.90800	0.7111	M	0.77406	2.37	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.99;0.984	D	0.91006	0.4846	10	0.87932	D	0	.	19.9832	0.97338	0.0:0.0:1.0:0.0	.	126;131;141	Q07343-3;Q59GM8;Q07343	.;.;PDE4B_HUMAN	Y	141;141;141;126;49	ENSP00000332116:D141Y;ENSP00000342637:D141Y;ENSP00000360088:D141Y;ENSP00000392947:D126Y;ENSP00000397548:D49Y	ENSP00000332116:D141Y	D	+	1	0	PDE4B	66485870	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.722000	0.93159	0.655000	0.94253	GAC		PASS	0.522	PDE4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025188.3	NM_002600		20	48	20	48	---	---	---	---
DIRAS3	9077	broad.mit.edu	37	1	68512321	68512321	+	Silent	SNP	C	C	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr1:68512321C>T	ENST00000370981.1	-	4	1296	c.660G>A	c.(658-660)gaG>gaA	p.E220E	GNG12-AS1_ENST00000413628.1_RNA|GNG12-AS1_ENST00000420587.1_RNA|DIRAS3_ENST00000395201.1_Silent_p.E220E			O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	220					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of gene expression by genetic imprinting (GO:0006349)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.E220E(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CAAGCAGCTTCTCAGTGGTGT	0.507																																						uc001ded.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(658-660)GAG>GAA		DIRAS family, GTP-binding RAS-like 3							120.0	118.0	119.0					1																	68512321		2203	4300	6503	SO:0001819	synonymous_variant	9077				regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	g.chr1:68512321C>T	U96750	CCDS641.1	1p31	2014-05-09		2005-01-27	ENSG00000162595	ENSG00000162595			687	protein-coding gene	gene with protein product		605193	"""ras homolog gene family, member I"""	ARHI		9874798	Standard	XM_006711027		Approved	NOEY2	uc001ded.3	O95661	OTTHUMG00000009544	ENST00000370981.1:c.660G>A	1.37:g.68512321C>T						uc001deb.1_Intron|uc001dec.1_Intron	p.E220E	NM_004675	NP_004666	O95661	DIRA3_HUMAN			2	955	-			220					B3KMP3	Silent	SNP	ENST00000370981.1	37	c.660G>A	CCDS641.1																																																																																				PASS	0.507	DIRAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026354.2	NM_004675		9	51	9	51	---	---	---	---
LRRC7	57554	broad.mit.edu	37	1	70503937	70503937	+	Silent	SNP	G	G	C	rs12567778	byFrequency	TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr1:70503937G>C	ENST00000035383.5	+	19	2346	c.2316G>C	c.(2314-2316)tcG>tcC	p.S772S	LRRC7_ENST00000310961.5_Silent_p.S777S|LRRC7_ENST00000415775.2_Silent_p.S56S	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	772						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.S772S(2)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CTGATGGCTCGCATTATGACA	0.507																																						uc001dep.2																			2	Substitution - coding silent(2)		lung(1)|stomach(1)	ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(2314-2316)TCG>TCC		leucine rich repeat containing 7							152.0	139.0	143.0					1																	70503937		2203	4300	6503	SO:0001819	synonymous_variant	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70503937G>C		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.2316G>C	1.37:g.70503937G>C						LRRC7_uc009wbg.2_Silent_p.S56S|LRRC7_uc001deq.2_Silent_p.S13S	p.S772S	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			19	2346	+			772					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Silent	SNP	ENST00000035383.5	37	c.2316G>C	CCDS645.1																																																																																				PASS	0.507	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		18	64	18	64	---	---	---	---
FPGT	8790	broad.mit.edu	37	1	74670749	74670749	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr1:74670749C>T	ENST00000609362.1	+	4	1055	c.1018C>T	c.(1018-1020)Ctt>Ttt	p.L340F	FPGT_ENST00000534056.1_Intron|FPGT_ENST00000370894.5_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT-TNNI3K_ENST00000557284.2_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT-TNNI3K_ENST00000533006.1_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT_ENST00000370898.3_Missense_Mutation_p.L353F|FPGT_ENST00000524915.1_Intron|FPGT-TNNI3K_ENST00000370893.1_Intron	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	340					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)	p.L340F(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						AATATTTCATCTTCTTAAAGG	0.353																																						uc001dgb.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1018-1020)CTT>TTT		fucose-1-phosphate guanyltransferase							59.0	61.0	60.0					1																	74670749		2203	4300	6503	SO:0001583	missense	8790				fucose metabolic process	cytoplasm	fucose-1-phosphate guanylyltransferase activity|GTP binding	g.chr1:74670749C>T	AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.1018C>T	1.37:g.74670749C>T	ENSP00000476680:p.Leu340Phe					TNNI3K_uc001dgc.1_Intron|TNNI3K_uc001dgd.2_Intron|TNNI3K_uc001dge.1_Intron|FPGT_uc010oqt.1_Intron|FPGT_uc010oqu.1_Intron|FPGT_uc010oqv.1_Intron	p.L340F	NM_003838	NP_003829	O14772	FPGT_HUMAN			4	1055	+			340					A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Missense_Mutation	SNP	ENST00000609362.1	37	c.1018C>T	CCDS663.1	.	.	.	.	.	.	.	.	.	.	C	9.966	1.224123	0.22457	.	.	ENSG00000254685	ENST00000370898	T	0.32515	1.45	5.81	4.89	0.63831	L-fucokinase (1);	.	.	.	.	T	0.17874	0.0429	M	0.66506	2.035	0.80722	D	1	B	0.18863	0.031	B	0.25405	0.06	T	0.04678	-1.0934	8	.	.	.	.	11.26	0.49078	0.0:0.8591:0.0:0.1409	.	340	O14772	FPGT_HUMAN	F	340	ENSP00000359935:L340F	.	L	+	1	0	TNNI3K	74443337	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.938000	0.40203	1.435000	0.47434	0.655000	0.94253	CTT		PASS	0.353	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				14	30	14	30	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103470046	103470046	+	Splice_Site	SNP	T	T	C			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr1:103470046T>C	ENST00000370096.3	-	20	2212		c.e20-2		COL11A1_ENST00000353414.4_Splice_Site|COL11A1_ENST00000358392.2_Splice_Site|COL11A1_ENST00000512756.1_Splice_Site|COL11A1_ENST00000461720.1_Splice_Site	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1						cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.?(2)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ATCTTCTCCCTGTCATTGACA	0.289																																						uc001dul.2																			2	Unknown(2)		lung(2)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.e20-1		alpha 1 type XI collagen isoform A							39.0	36.0	37.0					1																	103470046		2203	4298	6501	SO:0001630	splice_region_variant	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103470046T>C	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1900-2A>G	1.37:g.103470046T>C						COL11A1_uc001duk.2_Splice_Site|COL11A1_uc001dum.2_Splice_Site_p.G646_splice|COL11A1_uc001dun.2_Splice_Site_p.G595_splice|COL11A1_uc009weh.2_Splice_Site_p.G518_splice	p.G634_splice	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	20	2218	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)						B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Splice_Site	SNP	ENST00000370096.3	37	c.1900_splice	CCDS778.1	.	.	.	.	.	.	.	.	.	.	T	16.84	3.233628	0.58886	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0016	0.80297	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL11A1	103242634	1.000000	0.71417	0.986000	0.45419	0.811000	0.45836	6.781000	0.75068	2.183000	0.69458	0.533000	0.62120	.		PASS	0.289	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	Intron	3	13	3	13	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152282314	152282314	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr1:152282314G>A	ENST00000368799.1	-	3	5083	c.5048C>T	c.(5047-5049)tCc>tTc	p.S1683F	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1683	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.S1683F(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGTGGCGGGATCCATGTCT	0.562									Ichthyosis																													uc001ezu.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(5047-5049)TCC>TTC		filaggrin							309.0	310.0	309.0					1																	152282314		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152282314G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5048C>T	1.37:g.152282314G>A	ENSP00000357789:p.Ser1683Phe						p.S1683F	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5084	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1683			Ser-rich.|Filaggrin 10.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.5048C>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	9.807	1.182087	0.21787	.	.	ENSG00000143631	ENST00000368799	T	0.10573	2.86	3.08	2.12	0.27331	.	.	.	.	.	T	0.15132	0.0365	M	0.71581	2.175	0.09310	N	1	D	0.67145	0.996	D	0.79784	0.993	T	0.04153	-1.0973	9	0.56958	D	0.05	.	7.997	0.30273	0.0:0.2543:0.7457:0.0	.	1683	P20930	FILA_HUMAN	F	1683	ENSP00000357789:S1683F	ENSP00000357789:S1683F	S	-	2	0	FLG	150548938	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-1.603000	0.02077	0.612000	0.30071	0.306000	0.20318	TCC		PASS	0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		232	287	232	287	---	---	---	---
GPR161	23432	broad.mit.edu	37	1	168065986	168065986	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr1:168065986T>C	ENST00000367838.1	-	5	1172	c.859A>G	c.(859-861)Atg>Gtg	p.M287V	GPR161_ENST00000271357.5_Missense_Mutation_p.M287V|GPR161_ENST00000367835.1_Missense_Mutation_p.M287V|GPR161_ENST00000537209.1_Missense_Mutation_p.M307V|GPR161_ENST00000361697.2_Missense_Mutation_p.M287V|GPR161_ENST00000546300.1_Missense_Mutation_p.M173V|GPR161_ENST00000539777.1_Missense_Mutation_p.M209V|GPR161_ENST00000367836.1_Missense_Mutation_p.M155V	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	287					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)	p.M287V(1)		breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					ATGACAACCATGTAGGGGCCC	0.612																																						uc001gfc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(859-861)ATG>GTG		G protein-coupled receptor 161 isoform 2							64.0	67.0	66.0					1																	168065986		2203	4300	6503	SO:0001583	missense	23432				multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:168065986T>C	AF091890	CCDS1268.1, CCDS58042.1, CCDS58043.1, CCDS58044.1, CCDS58045.1, CCDS72978.1	1q23.3	2012-08-21			ENSG00000143147	ENSG00000143147		"""GPCR / Class A : Orphans"""	23694	protein-coding gene	gene with protein product		612250				11959142	Standard	NM_153832		Approved	RE2	uc009wvo.4	Q8N6U8	OTTHUMG00000034651	ENST00000367838.1:c.859A>G	1.37:g.168065986T>C	ENSP00000356812:p.Met287Val					GPR161_uc001gfb.2_Missense_Mutation_p.M155V|GPR161_uc010pll.1_Missense_Mutation_p.M197V|GPR161_uc010plm.1_Missense_Mutation_p.M173V|GPR161_uc009wvo.2_Missense_Mutation_p.M304V|GPR161_uc001gfd.2_Missense_Mutation_p.M287V|GPR161_uc010pln.1_Missense_Mutation_p.M307V|GPR161_uc001gfe.1_Missense_Mutation_p.M287V	p.M287V	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN			5	1173	-	all_hematologic(923;0.215)		287			Helical; Name=6; (Potential).		B3KV34|B7Z5D7|B7Z5E8|B7Z5Z6|F5GXD6|F5H6J7|O75963|Q5TGK0|Q5TGK1|Q5TGK2	Missense_Mutation	SNP	ENST00000367838.1	37	c.859A>G	CCDS1268.1	.	.	.	.	.	.	.	.	.	.	T	8.079	0.772031	0.16051	.	.	ENSG00000143147	ENST00000367838;ENST00000271357;ENST00000367836;ENST00000367835;ENST00000546300;ENST00000539777;ENST00000537209;ENST00000361697	T;T;T;T;T;T;T;T	0.35789	1.29;1.29;1.29;1.29;1.29;1.29;1.29;1.29	5.48	3.01	0.34805	GPCR, rhodopsin-like superfamily (1);	0.169939	0.64402	D	0.000004	T	0.05777	0.0151	N	0.03177	-0.4	0.33484	D	0.587889	B;B;B;B;B;B	0.12013	0.002;0.002;0.004;0.005;0.001;0.003	B;B;B;B;B;B	0.12156	0.003;0.005;0.002;0.007;0.001;0.003	T	0.16041	-1.0416	9	0.46703	T	0.11	-40.5881	6.342	0.21328	0.1694:0.0755:0.0:0.7551	.	307;173;209;307;287;287	F5GXD6;B7Z5E8;F5H6J7;B7Z5Z6;Q8N6U8-2;Q8N6U8	.;.;.;.;.;GP161_HUMAN	V	287;287;155;287;173;209;307;287	ENSP00000356812:M287V;ENSP00000271357:M287V;ENSP00000356810:M155V;ENSP00000356809:M287V;ENSP00000444348:M173V;ENSP00000437576:M209V;ENSP00000441039:M307V;ENSP00000355194:M287V	ENSP00000271357:M287V	M	-	1	0	GPR161	166332610	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	2.552000	0.45828	0.887000	0.36136	0.459000	0.35465	ATG		PASS	0.612	GPR161-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083829.1	NM_007369		28	88	28	88	---	---	---	---
ARID4B	51742	broad.mit.edu	37	1	235331905	235331906	+	Missense_Mutation	DNP	AC	AC	GA			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr1:235331905_235331906AC>GA	ENST00000264183.3	-	24	4370_4371	c.3873_3874GT>TC	c.(3871-3876)atGTta>atTCta	p.M1291I	ARID4B_ENST00000366603.2_Missense_Mutation_p.M1291I|ARID4B_ENST00000349213.3_Missense_Mutation_p.M1205I|ARID4B-IT1_ENST00000357671.6_RNA	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	1291	Ser-rich.				histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.M1291I(2)|p.L1292L(1)		NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			GCTAAAGTTAACATAACAGCAG	0.441																																						uc001hwq.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(2)|lung(1)	3						c.(3874-3876)TTA>CTA|c.(3871-3873)ATG>ATT		AT rich interactive domain 4B isoform 1																																				SO:0001583	missense	51742				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	g.chr1:235331905A>G|g.chr1:235331906C>A	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.3873_3874delinsGA	1.37:g.235331905_235331906delinsGA	ENSP00000264183:p.Met1291Ile					ARID4B_uc001hwr.2_Silent_p.L1206L|ARID4B_uc001hwp.2_RNA|ARID4B_uc001hwr.2_Missense_Mutation_p.M1205I|ARID4B_uc001hwp.2_RNA	p.L1292L|p.M1291I	NM_016374	NP_057458	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		24	4372|4371	-	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	1292|1291			Ser-rich.		A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Silent|Missense_Mutation	SNP	ENST00000264183.3	37	c.3874T>C|c.3873G>T	CCDS31061.1																																																																																				PASS	0.441	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374		4	33|34	4	33	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237758806	237758806	+	Missense_Mutation	SNP	G	G	C	rs373024059		TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr1:237758806G>C	ENST00000366574.2	+	34	4762	c.4445G>C	c.(4444-4446)cGc>cCc	p.R1482P	RYR2_ENST00000542537.1_Missense_Mutation_p.R1466P|RYR2_ENST00000360064.6_Missense_Mutation_p.R1480P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1482	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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.R1480P(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)			AGCATCAAACGCAGCAACTGC	0.443																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(4444-4446)CGC>CCC		cardiac muscle ryanodine receptor							79.0	81.0	80.0					1																	237758806		2018	4173	6191	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.chr1:237758806G>C	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.4445G>C	1.37:g.237758806G>C	ENSP00000355533:p.Arg1482Pro						p.R1482P	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		34	4565	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1482			Cytoplasmic (By similarity).|B30.2/SPRY 3.|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.4445G>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.645624	0.67358	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.61742	0.08;0.08;0.08	5.0	5.0	0.66597	SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.267390	0.30446	N	0.009610	T	0.69415	0.3108	M	0.77486	2.375	0.80722	D	1	D	0.54397	0.966	P	0.50352	0.638	T	0.74870	-0.3517	10	0.62326	D	0.03	.	18.4746	0.90788	0.0:0.0:1.0:0.0	.	1482	Q92736	RYR2_HUMAN	P	1482;1480;1466	ENSP00000355533:R1482P;ENSP00000353174:R1480P;ENSP00000443798:R1466P	ENSP00000353174:R1480P	R	+	2	0	RYR2	235825429	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.560000	0.73950	2.598000	0.87819	0.655000	0.94253	CGC		PASS	0.443	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		21	46	21	46	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237774129	237774129	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr1:237774129C>T	ENST00000366574.2	+	36	5068	c.4751C>T	c.(4750-4752)cCg>cTg	p.P1584L	RYR2_ENST00000542537.1_Missense_Mutation_p.P1568L|RYR2_ENST00000360064.6_Missense_Mutation_p.P1582L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1584	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.P1582L(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)			CAGTGCCCCCCGCGCCTCCAC	0.542																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(4750-4752)CCG>CTG		cardiac muscle ryanodine receptor							50.0	51.0	51.0					1																	237774129		1943	4119	6062	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.chr1:237774129C>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.4751C>T	1.37:g.237774129C>T	ENSP00000355533:p.Pro1584Leu						p.P1584L	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		36	4871	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1584			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.4751C>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.034054	0.93575	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.97480	-4.4;-4.37;-4.39	5.24	5.24	0.73138	.	0.086839	0.45126	D	0.000395	D	0.98554	0.9517	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.67231	0.95	D	0.99453	1.0941	10	0.87932	D	0	.	19.0203	0.92912	0.0:1.0:0.0:0.0	.	1584	Q92736	RYR2_HUMAN	L	1584;1582;1568	ENSP00000355533:P1584L;ENSP00000353174:P1582L;ENSP00000443798:P1568L	ENSP00000353174:P1582L	P	+	2	0	RYR2	235840752	1.000000	0.71417	0.442000	0.26870	0.949000	0.60115	7.604000	0.82830	2.715000	0.92844	0.655000	0.94253	CCG		PASS	0.542	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		9	22	9	22	---	---	---	---
CNST	163882	broad.mit.edu	37	1	246829021	246829021	+	Silent	SNP	C	C	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr1:246829021C>T	ENST00000366513.4	+	11	2261	c.1992C>T	c.(1990-1992)tcC>tcT	p.S664S		NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	664					negative regulation of phosphatase activity (GO:0010923)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	connexin binding (GO:0071253)|phosphatase binding (GO:0019902)	p.S664S(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						GAGGTGGCTCCTGTATTTTGC	0.428																																						uc001ibp.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1990-1992)TCC>TCT		hypothetical protein LOC163882 isoform 1							173.0	154.0	161.0					1																	246829021		2203	4300	6503	SO:0001819	synonymous_variant	163882				positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding	g.chr1:246829021C>T	AK056563	CCDS1628.1, CCDS44343.1	1q44	2012-04-17	2009-11-03	2009-11-03	ENSG00000162852	ENSG00000162852		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26486	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 64"""	613439	"""chromosome 1 open reading frame 71"""	C1orf71		19864490	Standard	NM_152609		Approved	FLJ32001, PPP1R64	uc001ibp.3	Q6PJW8	OTTHUMG00000040090	ENST00000366513.4:c.1992C>T	1.37:g.246829021C>T							p.S664S	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN			11	2370	+			664					Q5VSY9|Q5VTM7|Q8IYA9|Q8N3L5|Q8NB09|Q8TEI2|Q96MR5	Silent	SNP	ENST00000366513.4	37	c.1992C>T	CCDS1628.1																																																																																				PASS	0.428	CNST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096780.1	NM_152609		15	45	15	45	---	---	---	---
AHCTF1	25909	broad.mit.edu	37	1	247025278	247025278	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr1:247025278G>A	ENST00000391829.2	-	28	3841	c.3718C>T	c.(3718-3720)Cca>Tca	p.P1240S	AHCTF1_ENST00000366508.1_Missense_Mutation_p.P1275S|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Missense_Mutation_p.P1249S			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1240	Disordered. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P1240S(1)		NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ATCCATTTTGGGTGGACATCT	0.358																																					Colon(145;197 1800 4745 15099 26333)	uc001ibu.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(2)	7						c.(3718-3720)CCA>TCA		transcription factor ELYS							63.0	61.0	62.0					1																	247025278		2203	4300	6503	SO:0001583	missense	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247025278G>A		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.3718C>T	1.37:g.247025278G>A	ENSP00000375705:p.Pro1240Ser					AHCTF1_uc001ibv.1_Missense_Mutation_p.P1249S|AHCTF1_uc009xgs.1_Missense_Mutation_p.P101S|AHCTF1_uc001ibw.1_RNA	p.P1240S	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		27	3725	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	1240			Necessary for nuclear localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37	c.3718C>T		.	.	.	.	.	.	.	.	.	.	G	0.008	-1.912179	0.00508	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.28255	1.62;1.63;1.63	5.86	-0.544	0.11847	.	1.073470	0.07196	N	0.856601	T	0.11410	0.0278	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.28332	-1.0047	10	0.10902	T	0.67	-0.0817	0.5079	0.00590	0.3159:0.1913:0.1158:0.377	.	101;1275;1240	B3KTD2;Q8WYP5-2;Q8WYP5	.;.;ELYS_HUMAN	S	1275;1249;1240	ENSP00000355464:P1275S;ENSP00000355465:P1249S;ENSP00000375705:P1240S	ENSP00000355465:P1249S	P	-	1	0	AHCTF1	245091901	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.033000	0.12246	-0.340000	0.08388	-1.155000	0.01812	CCA		PASS	0.358	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		23	30	23	30	---	---	---	---
OR2L3	391192	broad.mit.edu	37	1	248224555	248224555	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr1:248224555C>A	ENST00000359959.3	+	1	572	c.572C>A	c.(571-573)aCc>aAc	p.T191N	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	191						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T191N(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TGCATGGACACCTGGGTCTAT	0.478																																						uc001idx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(571-573)ACC>AAC		olfactory receptor, family 2, subfamily L,							134.0	157.0	149.0					1																	248224555		2201	4300	6501	SO:0001583	missense	391192				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248224555C>A	AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"""GPCR / Class A : Olfactory receptors"""	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.572C>A	1.37:g.248224555C>A	ENSP00000353044:p.Thr191Asn					OR2L13_uc001ids.2_Intron	p.T191N	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	572	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		191			Extracellular (Potential).		B9EH44	Missense_Mutation	SNP	ENST00000359959.3	37	c.572C>A	CCDS31104.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.662373	0.29515	.	.	ENSG00000198128	ENST00000359959	T	0.00256	8.42	2.05	1.08	0.20341	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34002	U	0.004342	T	0.00356	0.0011	M	0.89030	3	0.09310	N	1	P	0.44195	0.828	P	0.50934	0.654	T	0.42430	-0.9452	10	0.87932	D	0	.	2.9729	0.05928	0.2135:0.5152:0.0:0.2713	.	191	Q8NG85	OR2L3_HUMAN	N	191	ENSP00000353044:T191N	ENSP00000353044:T191N	T	+	2	0	OR2L3	246291178	0.652000	0.27349	0.013000	0.15412	0.113000	0.19764	2.932000	0.48940	0.175000	0.19841	0.462000	0.41574	ACC		PASS	0.478	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687		23	125	23	125	---	---	---	---
WDR35	57539	broad.mit.edu	37	2	20153629	20153629	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr2:20153629G>C	ENST00000345530.3	-	13	1514	c.1399C>G	c.(1399-1401)Cag>Gag	p.Q467E	WDR35_ENST00000416055.2_Missense_Mutation_p.Q32E|WDR35_ENST00000281405.4_Missense_Mutation_p.Q456E	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	467					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)		p.Q467E(1)		breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGTGTGATCTGATTAATTTCC	0.383																																						uc002rdi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1399-1401)CAG>GAG		WD repeat domain 35 isoform 1							227.0	213.0	218.0					2																	20153629		2203	4300	6503	SO:0001583	missense	57539							g.chr2:20153629G>C	AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.1399C>G	2.37:g.20153629G>C	ENSP00000314444:p.Gln467Glu					WDR35_uc002rdj.2_Missense_Mutation_p.Q456E|WDR35_uc010ext.2_RNA|WDR35_uc002rdh.2_Missense_Mutation_p.Q32E|WDR35_uc002rdk.3_Missense_Mutation_p.Q32E	p.Q467E	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN			13	1507	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		467					B3KVI5|Q4ZG01|Q8NE11	Missense_Mutation	SNP	ENST00000345530.3	37	c.1399C>G	CCDS33152.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.311919	0.23821	.	.	ENSG00000118965	ENST00000345530;ENST00000281405;ENST00000416055;ENST00000453014	T;T;T;D	0.87256	-0.02;-0.02;-0.64;-2.23	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.87261	0.6133	M	0.67953	2.075	0.80722	D	1	P;P;B;P	0.48834	0.675;0.787;0.243;0.916	B;P;B;P	0.47645	0.295;0.466;0.041;0.553	D	0.84330	0.0521	10	0.02654	T	1	-14.318	18.7155	0.91673	0.0:0.0:1.0:0.0	.	467;456;467;32	F8WB94;Q9P2L0-2;Q9P2L0;B3KR94	.;.;WDR35_HUMAN;.	E	467;456;32;2	ENSP00000314444:Q467E;ENSP00000281405:Q456E;ENSP00000399159:Q32E;ENSP00000404409:Q2E	ENSP00000281405:Q456E	Q	-	1	0	WDR35	20017110	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.714000	0.98744	2.672000	0.90937	0.561000	0.74099	CAG		PASS	0.383	WDR35-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207472.2	NM_020779		53	93	53	93	---	---	---	---
DHX57	90957	broad.mit.edu	37	2	39095469	39095469	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr2:39095469T>C	ENST00000295373.6	-	2	205	c.79A>G	c.(79-81)Agg>Ggg	p.R27G	DHX57_ENST00000479345.2_5'Flank	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	27	Gly-rich.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R27G(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				GCGTGACTCCTGCCTCCTCTT	0.517																																					Melanoma(191;1090 2095 4375 23729 47341)	uc002rrf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|skin(1)	3						c.(79-81)AGG>GGG		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57							116.0	120.0	118.0					2																	39095469		2203	4300	6503	SO:0001583	missense	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39095469T>C	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.79A>G	2.37:g.39095469T>C	ENSP00000295373:p.Arg27Gly					DHX57_uc002rre.2_5'Flank|DHX57_uc002rrg.2_Missense_Mutation_p.R27G	p.R27G	NM_198963	NP_945314	Q6P158	DHX57_HUMAN			2	178	-		all_hematologic(82;0.248)	27			Gly-rich.		A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	ENST00000295373.6	37	c.79A>G	CCDS1800.1	.	.	.	.	.	.	.	.	.	.	T	8.716	0.913244	0.17907	.	.	ENSG00000163214	ENST00000295373	T	0.02763	4.17	4.01	4.01	0.46588	.	0.140217	0.31279	N	0.007928	T	0.01765	0.0056	N	0.08118	0	0.20873	N	0.999839	B;B	0.11235	0.004;0.0	B;B	0.09377	0.004;0.001	T	0.46624	-0.9178	10	0.33940	T	0.23	.	9.0167	0.36175	0.0:0.0:0.1858:0.8142	.	27;27	Q6P158-2;Q6P158	.;DHX57_HUMAN	G	27	ENSP00000295373:R27G	ENSP00000295373:R27G	R	-	1	2	DHX57	38948973	0.892000	0.30473	0.980000	0.43619	0.995000	0.86356	0.559000	0.23485	1.701000	0.51217	0.449000	0.29647	AGG		PASS	0.517	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		17	96	17	96	---	---	---	---
SRBD1	55133	broad.mit.edu	37	2	45778336	45778336	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr2:45778336G>A	ENST00000263736.4	-	12	1665	c.1603C>T	c.(1603-1605)Cca>Tca	p.P535S	SRBD1_ENST00000535761.1_Missense_Mutation_p.P54S	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	535					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)	p.P535S(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			GTGCGCCCTGGAACAGGGCTT	0.403																																						uc002rus.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1603-1605)CCA>TCA		S1 RNA binding domain 1							85.0	81.0	82.0					2																	45778336		2203	4300	6503	SO:0001583	missense	55133				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding	g.chr2:45778336G>A	AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.1603C>T	2.37:g.45778336G>A	ENSP00000263736:p.Pro535Ser					SRBD1_uc010yoc.1_Missense_Mutation_p.P54S	p.P535S	NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)		12	1679	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	535					Q53T56|Q96TA4|Q9NW11	Missense_Mutation	SNP	ENST00000263736.4	37	c.1603C>T	CCDS1823.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.854717	0.51376	.	.	ENSG00000068784	ENST00000263736;ENST00000535761	T;T	0.39592	1.07;1.07	5.65	5.65	0.86999	Tex-like domain (1);	0.056424	0.64402	D	0.000003	T	0.28699	0.0711	N	0.16656	0.425	0.31167	N	0.703652	B	0.29716	0.255	B	0.26614	0.071	T	0.27502	-1.0072	10	0.42905	T	0.14	.	14.8198	0.70062	0.0:0.0:0.8226:0.1774	.	535	Q8N5C6	SRBD1_HUMAN	S	535;54	ENSP00000263736:P535S;ENSP00000441272:P54S	ENSP00000263736:P535S	P	-	1	0	SRBD1	45631840	1.000000	0.71417	0.990000	0.47175	0.996000	0.88848	3.401000	0.52601	2.835000	0.97688	0.650000	0.86243	CCA		PASS	0.403	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079		9	48	9	48	---	---	---	---
RTN4	57142	broad.mit.edu	37	2	55253647	55253647	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr2:55253647C>G	ENST00000337526.6	-	3	1831	c.1588G>C	c.(1588-1590)Gtc>Ctc	p.V530L	RTN4_ENST00000404909.1_Missense_Mutation_p.V324L|RTN4_ENST00000354474.6_Missense_Mutation_p.V298L|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357376.3_Missense_Mutation_p.V324L|RTN4_ENST00000394611.2_Missense_Mutation_p.V324L|RTN4_ENST00000405240.1_Missense_Mutation_p.V324L	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	530					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.V324L(1)|p.V530L(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						TCTGTTGTGACATAATCTGTC	0.398																																						uc002rye.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|large_intestine(1)	3						c.(1588-1590)GTC>CTC		reticulon 4 isoform A							137.0	132.0	134.0					2																	55253647		2203	4300	6503	SO:0001583	missense	57142				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding	g.chr2:55253647C>G	AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.1588G>C	2.37:g.55253647C>G	ENSP00000337838:p.Val530Leu					RTN4_uc002ryd.2_Missense_Mutation_p.V324L|RTN4_uc002ryf.2_Intron|RTN4_uc002ryg.2_Intron	p.V530L	NM_020532	NP_065393	Q9NQC3	RTN4_HUMAN			3	1886	-			530			Cytoplasmic (Potential).		O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Missense_Mutation	SNP	ENST00000337526.6	37	c.1588G>C	CCDS42684.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.086436	0.55861	.	.	ENSG00000115310	ENST00000405240;ENST00000357376;ENST00000337526;ENST00000394611;ENST00000404909;ENST00000354474	T;T;T;T;T;T	0.21191	2.03;2.03;2.02;2.03;2.03;2.05	5.85	5.85	0.93711	.	0.175815	0.40302	N	0.001138	T	0.23806	0.0576	L	0.58101	1.795	0.35628	D	0.809985	P	0.40083	0.702	B	0.30495	0.116	T	0.28235	-1.0050	10	0.56958	D	0.05	-2.5655	20.1585	0.98127	0.0:1.0:0.0:0.0	.	530	Q9NQC3	RTN4_HUMAN	L	324;324;530;324;324;298	ENSP00000384471:V324L;ENSP00000349944:V324L;ENSP00000337838:V530L;ENSP00000378109:V324L;ENSP00000385650:V324L;ENSP00000346465:V298L	ENSP00000337838:V530L	V	-	1	0	RTN4	55107151	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.098000	0.41757	2.773000	0.95371	0.585000	0.79938	GTC		PASS	0.398	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1			28	66	28	66	---	---	---	---
C2orf78	388960	broad.mit.edu	37	2	74042819	74042819	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr2:74042819G>T	ENST00000409561.1	+	3	1590	c.1469G>T	c.(1468-1470)tGt>tTt	p.C490F		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	490								p.C460F(1)|p.C490F(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						GAAAAGTCATGTGTCATAAAG	0.463																																						uc002sjr.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1468-1470)TGT>TTT		hypothetical protein LOC388960							80.0	77.0	78.0					2																	74042819		1948	4138	6086	SO:0001583	missense	388960							g.chr2:74042819G>T	AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.1469G>T	2.37:g.74042819G>T	ENSP00000387124:p.Cys490Phe						p.C490F	NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN			3	1590	+			490						Missense_Mutation	SNP	ENST00000409561.1	37	c.1469G>T	CCDS46338.1	.	.	.	.	.	.	.	.	.	.	G	6.892	0.534078	0.13188	.	.	ENSG00000187833	ENST00000409561;ENST00000342345	.	.	.	5.25	2.3	0.28687	.	1.236030	0.05745	N	0.602074	T	0.19927	0.0479	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.08055	0.003	T	0.20107	-1.0285	9	0.45353	T	0.12	7.4784	5.2222	0.15375	0.1837:0.1686:0.6477:0.0	.	490	A6NCI8	CB078_HUMAN	F	490;460	.	ENSP00000340692:C460F	C	+	2	0	C2orf78	73896327	0.000000	0.05858	0.001000	0.08648	0.217000	0.24651	0.331000	0.19733	0.730000	0.32425	0.655000	0.94253	TGT		PASS	0.463	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328083.1	NM_001080474		20	62	20	62	---	---	---	---
SLC20A1	6574	broad.mit.edu	37	2	113405026	113405026	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr2:113405026G>C	ENST00000272542.3	+	3	999	c.460G>C	c.(460-462)Gaa>Caa	p.E154Q	AC079922.3_ENST00000457336.1_lincRNA	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	154					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	high-affinity inorganic phosphate:sodium symporter activity (GO:0005316)|inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|sodium:phosphate symporter activity (GO:0005436)	p.E154Q(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						CAAGTGGTCTGAACTGATAAA	0.418																																						uc002tib.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(460-462)GAA>CAA		solute carrier family 20 (phosphate							177.0	185.0	182.0					2																	113405026		2203	4300	6503	SO:0001583	missense	6574				phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity	g.chr2:113405026G>C		CCDS2099.1	2q13	2013-05-22			ENSG00000144136	ENSG00000144136		"""Solute carriers"""	10946	protein-coding gene	gene with protein product	"""gibbon ape leukemia virus receptor 1"""	137570		GLVR1		8041748	Standard	NM_005415		Approved	PiT-1, Glvr-1	uc002tib.3	Q8WUM9	OTTHUMG00000131317	ENST00000272542.3:c.460G>C	2.37:g.113405026G>C	ENSP00000272542:p.Glu154Gln					uc010fkq.1_5'Flank	p.E154Q	NM_005415	NP_005406	Q8WUM9	S20A1_HUMAN			3	906	+			154			Extracellular (Potential).		Q08344|Q6DHX8|Q9UQ82	Missense_Mutation	SNP	ENST00000272542.3	37	c.460G>C	CCDS2099.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.939532	0.73557	.	.	ENSG00000144136	ENST00000272542	D	0.90385	-2.66	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.86727	0.6002	L	0.39085	1.19	0.80722	D	1	B	0.16166	0.016	B	0.19666	0.026	T	0.81247	-0.1019	10	0.25751	T	0.34	-13.3607	17.3743	0.87387	0.0:0.0:1.0:0.0	.	154	Q8WUM9	S20A1_HUMAN	Q	154	ENSP00000272542:E154Q	ENSP00000272542:E154Q	E	+	1	0	SLC20A1	113121497	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	4.747000	0.62141	2.704000	0.92352	0.655000	0.94253	GAA		PASS	0.418	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254086.2	NM_005415		47	121	47	121	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141457889	141457889	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr2:141457889G>T	ENST00000389484.3	-	41	7700	c.6729C>A	c.(6727-6729)taC>taA	p.Y2243*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2243					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.Y2243*(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTGCATCACTGTAAAAGATTC	0.343										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Nonsense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(6727-6729)TAC>TAA		low density lipoprotein-related protein 1B							117.0	121.0	120.0					2																	141457889		2203	4299	6502	SO:0001587	stop_gained	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141457889G>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.6729C>A	2.37:g.141457889G>T	ENSP00000374135:p.Tyr2243*	TSP Lung(27;0.18)					p.Y2243*	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	41	7701	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2243			Extracellular (Potential).|LDL-receptor class B 23.		Q8WY29|Q8WY30|Q8WY31	Nonsense_Mutation	SNP	ENST00000389484.3	37	c.6729C>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	53	20.696534	0.99933	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	.	.	.	4.47	4.47	0.54385	.	0.165342	0.39210	U	0.001439	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.4918	0.87705	0.0:0.0:1.0:0.0	.	.	.	.	X	2243;2181	.	ENSP00000374135:Y2243X	Y	-	3	2	LRP1B	141174359	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.294000	0.51787	2.176000	0.68965	0.585000	0.79938	TAC		PASS	0.343	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		20	63	20	63	---	---	---	---
SCN2A	6326	broad.mit.edu	37	2	166165204	166165204	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr2:166165204G>C	ENST00000375437.2	+	5	795	c.505G>C	c.(505-507)Gaa>Caa	p.E169Q	SCN2A_ENST00000283256.6_Missense_Mutation_p.E169Q|SCN2A_ENST00000357398.3_Missense_Mutation_p.E169Q|SCN2A_ENST00000375427.2_Missense_Mutation_p.E169Q	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	169			E -> G (in EIEE11). {ECO:0000269|PubMed:23935176}.		intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.E169Q(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTATACTTTTGAATCACTTAT	0.318																																						uc002udc.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(1)|pancreas(1)	8						c.(505-507)GAA>CAA		sodium channel, voltage-gated, type II, alpha	Lamotrigine(DB00555)						72.0	78.0	76.0					2																	166165204		2197	4296	6493	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166165204G>C	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.505G>C	2.37:g.166165204G>C	ENSP00000364586:p.Glu169Gln					SCN2A_uc002udd.2_Missense_Mutation_p.E169Q|SCN2A_uc002ude.2_Missense_Mutation_p.E169Q	p.E169Q	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN			5	795	+			169			I.|Helical; Name=S2 of repeat I; (Potential).		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.505G>C	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.960982	0.74016	.	.	ENSG00000136531	ENST00000424833;ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D;D	0.98807	-5.15;-5.15;-5.15;-5.15;-5.15	5.57	5.57	0.84162	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.99625	0.9863	H	0.99498	4.595	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.998;0.999	D	0.97445	1.0024	10	0.87932	D	0	.	19.9065	0.97010	0.0:0.0:1.0:0.0	.	169;169	Q99250-2;Q99250	.;SCN2A_HUMAN	Q	169	ENSP00000406454:E169Q;ENSP00000364586:E169Q;ENSP00000349973:E169Q;ENSP00000283256:E169Q;ENSP00000364576:E169Q	ENSP00000283256:E169Q	E	+	1	0	SCN2A	165873450	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.785000	0.95823	0.650000	0.86243	GAA		PASS	0.318	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		26	38	26	38	---	---	---	---
NFE2L2	4780	broad.mit.edu	37	2	178098953	178098953	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr2:178098953C>G	ENST00000397062.3	-	2	646	c.92G>C	c.(91-93)gGa>gCa	p.G31A	NFE2L2_ENST00000423513.1_Missense_Mutation_p.G15A|NFE2L2_ENST00000446151.2_Missense_Mutation_p.G15A|NFE2L2_ENST00000464747.1_Missense_Mutation_p.G15A|NFE2L2_ENST00000397063.4_Missense_Mutation_p.G15A	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	31					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G31A(5)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCGACTTACTCCAAGATCTAT	0.363			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												uc002ulh.3				Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			NSCLC|HNSCC		5	Substitution - Missense(5)	p.G31R(1)	lung(3)|oesophagus(1)|skin(1)	central_nervous_system(1)	1						c.(91-93)GGA>GCA		nuclear factor erythroid 2-like 2 isoform 1							70.0	63.0	65.0					2																	178098953		1841	4101	5942	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178098953C>G		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.92G>C	2.37:g.178098953C>G	ENSP00000380252:p.Gly31Ala	HNSCC(56;0.16)				NFE2L2_uc002ulg.3_Missense_Mutation_p.G15A|NFE2L2_uc010zfa.1_Missense_Mutation_p.G15A|NFE2L2_uc002uli.3_Missense_Mutation_p.G15A|NFE2L2_uc010fra.2_Missense_Mutation_p.G15A|NFE2L2_uc010frb.2_Missense_Mutation_p.G15A	p.G31A	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		2	647	-			31					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.92G>C	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.199409	0.79015	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44;1.44	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.64327	0.2588	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.998;0.997;0.999;0.998	T	0.69087	-0.5238	10	0.87932	D	0	.	19.9976	0.97389	0.0:1.0:0.0:0.0	.	15;15;15;31	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	A	15;31;15;15;15;15;15	ENSP00000380253:G15A;ENSP00000380252:G31A;ENSP00000411575:G15A;ENSP00000391590:G15A;ENSP00000400073:G15A;ENSP00000412191:G15A;ENSP00000410015:G15A	ENSP00000380252:G31A	G	-	2	0	NFE2L2	177807199	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.764000	0.68826	2.737000	0.93849	0.563000	0.77884	GGA		PASS	0.363	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		8	44	8	44	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179434029	179434029	+	Silent	SNP	G	G	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr2:179434029G>T	ENST00000591111.1	-	276	72131	c.71907C>A	c.(71905-71907)gtC>gtA	p.V23969V	TTN_ENST00000589042.1_Silent_p.V25610V|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Silent_p.V23042V|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.V16670V|TTN_ENST00000460472.2_Silent_p.V16545V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.V16737V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23969	Fibronectin type-III 74. {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.V23042V(1)|p.V16737V(1)|p.V16545V(1)|p.V23040V(1)|p.V16670V(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)			TGATTTCTGTGACTTTCAGGT	0.403																																						uc010zfg.1																			5	Substitution - coding silent(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.(69124-69126)GTC>GTA		titin isoform N2-A							197.0	191.0	193.0					2																	179434029		1875	4120	5995	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179434029G>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.71907C>A	2.37:g.179434029G>T						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.V16737V|TTN_uc010zfi.1_Silent_p.V16670V|TTN_uc010zfj.1_Silent_p.V16545V	p.V23042V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	69350	-			23969					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.69126C>A																																																																																					PASS	0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		50	187	50	187	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179606435	179606435	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr2:179606435G>A	ENST00000591111.1	-	46	10798	c.10574C>T	c.(10573-10575)aCt>aTt	p.T3525I	TTN_ENST00000589042.1_Missense_Mutation_p.T3842I|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T3604I|TTN_ENST00000460472.2_Missense_Mutation_p.T3479I|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T3671I			Q8WZ42	TITIN_HUMAN	titin	13861	Ig-like 21.				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.T3604I(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)			GCCAATGACAGTTACAGACAG	0.403																																						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.(11011-11013)ACT>ATT		titin isoform novex-2							104.0	101.0	102.0					2																	179606435		1907	4123	6030	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179606435G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10574C>T	2.37:g.179606435G>A	ENSP00000465570:p.Thr3525Ile					TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.T3604I|TTN_uc010zfj.1_Missense_Mutation_p.T3479I|TTN_uc002umz.1_Intron	p.T3671I	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	11236	-			3643					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.11012C>T		.	.	.	.	.	.	.	.	.	.	G	11.53	1.664760	0.29604	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.69306	-0.39;-0.39;-0.39	6.07	6.07	0.98685	.	.	.	.	.	T	0.50854	0.1640	N	0.16066	0.365	0.26784	N	0.969532	B;B;B	0.15141	0.012;0.012;0.012	B;B;B	0.17433	0.018;0.018;0.018	T	0.44605	-0.9317	9	0.87932	D	0	.	10.2214	0.43198	0.07:0.137:0.793:0.0	.	3479;3604;3671	D3DPF9;E7EQE6;E7ET18	.;.;.	I	3479;3671;3604;3479	ENSP00000434586:T3479I;ENSP00000340554:T3671I;ENSP00000352154:T3604I	ENSP00000340554:T3671I	T	-	2	0	TTN	179314680	0.999000	0.42202	0.868000	0.34077	0.916000	0.54674	3.164000	0.50770	2.890000	0.99128	0.585000	0.79938	ACT		PASS	0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	42	8	42	---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196759756	196759756	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr2:196759756C>T	ENST00000312428.6	-	30	4940	c.4840G>A	c.(4840-4842)Gga>Aga	p.G1614R		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1614	AAA 2. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.G1614R(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTAGTTTTTCCTCCAAATGGT	0.318																																						uc002utj.3																			1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(2)	12						c.(4840-4842)GGA>AGA		dynein, axonemal, heavy chain 7							93.0	85.0	87.0					2																	196759756		1845	4098	5943	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196759756C>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.4840G>A	2.37:g.196759756C>T	ENSP00000311273:p.Gly1614Arg						p.G1614R	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			30	4941	-			1614			ATP (Potential).|AAA 2 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.4840G>A	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.044842	0.93685	.	.	ENSG00000118997	ENST00000312428	D	0.92099	-2.97	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.98289	0.9433	H	0.99855	4.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99497	1.0952	10	0.87932	D	0	.	18.6588	0.91465	0.0:1.0:0.0:0.0	.	1614	Q8WXX0	DYH7_HUMAN	R	1614	ENSP00000311273:G1614R	ENSP00000311273:G1614R	G	-	1	0	DNAH7	196468001	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.550000	0.82173	2.746000	0.94184	0.655000	0.94253	GGA		PASS	0.318	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		3	27	3	27	---	---	---	---
STK17B	9262	broad.mit.edu	37	2	197004392	197004392	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr2:197004392G>A	ENST00000263955.4	-	7	1074	c.788C>T	c.(787-789)tCa>tTa	p.S263L	STK17B_ENST00000409228.1_Missense_Mutation_p.S263L	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	serine/threonine kinase 17b	263	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of fibroblast apoptotic process (GO:2000271)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.S263L(1)		breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15			OV - Ovarian serous cystadenocarcinoma(117;0.141)			GGCCAGCTGTGAAACTGATGA	0.294																																						uc002utk.2																			1	Substitution - Missense(1)		lung(1)	lung(2)	2						c.(787-789)TCA>TTA		serine/threonine kinase 17B							80.0	84.0	83.0					2																	197004392		2203	4298	6501	SO:0001583	missense	9262				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:197004392G>A	AB011421	CCDS2315.1	2q33.1	2008-02-05	2007-02-12		ENSG00000081320	ENSG00000081320			11396	protein-coding gene	gene with protein product	"""death-associated protein kinase-related 2"""	604727	"""serine/threonine kinase 17b (apoptosis-inducing)"""			9786912	Standard	NM_004226		Approved	DRAK2	uc002utk.3	O94768	OTTHUMG00000132735	ENST00000263955.4:c.788C>T	2.37:g.197004392G>A	ENSP00000263955:p.Ser263Leu					STK17B_uc010fsh.2_Missense_Mutation_p.S263L	p.S263L	NM_004226	NP_004217	O94768	ST17B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.141)		7	1112	-			263			Protein kinase.			Missense_Mutation	SNP	ENST00000263955.4	37	c.788C>T	CCDS2315.1	.	.	.	.	.	.	.	.	.	.	G	31	5.064399	0.93898	.	.	ENSG00000081320	ENST00000263955;ENST00000409228	T;T	0.58210	0.35;0.35	5.11	5.11	0.69529	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.38837	N	0.001545	T	0.79381	0.4436	M	0.91768	3.24	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84157	0.0426	10	0.87932	D	0	.	18.7339	0.91746	0.0:0.0:1.0:0.0	.	263	O94768	ST17B_HUMAN	L	263	ENSP00000263955:S263L;ENSP00000386853:S263L	ENSP00000263955:S263L	S	-	2	0	STK17B	196712637	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.042000	0.93793	2.646000	0.89796	0.591000	0.81541	TCA		PASS	0.294	STK17B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256092.2			13	45	13	45	---	---	---	---
CPS1	1373	broad.mit.edu	37	2	211521310	211521310	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr2:211521310C>A	ENST00000233072.5	+	30	3816	c.3620C>A	c.(3619-3621)aCt>aAt	p.T1207N	CPS1_ENST00000451903.2_Missense_Mutation_p.T756N|CPS1_ENST00000430249.2_Missense_Mutation_p.T1213N	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1207	ATP-grasp 2.				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.T1207N(1)|p.T1213N(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)	GGAGATGCCACTCTGATGCTG	0.403																																						uc002vee.3																			2	Substitution - Missense(2)		lung(2)	ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(3619-3621)ACT>AAT		carbamoyl-phosphate synthetase 1 isoform b							73.0	75.0	74.0					2																	211521310		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.chr2:211521310C>A	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.3620C>A	2.37:g.211521310C>A	ENSP00000233072:p.Thr1207Asn					CPS1_uc010fur.2_Missense_Mutation_p.T1213N|CPS1_uc010fus.2_Missense_Mutation_p.T756N	p.T1207N	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)	30	3752	+			1207			ATP-grasp 2.		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.3620C>A	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.884604	0.91814	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.97041	-4.22;-4.22;-4.22	5.87	5.87	0.94306	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);	0.000000	0.85682	D	0.000000	D	0.98801	0.9596	M	0.90082	3.085	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.79784	0.993;0.991	D	0.99327	1.0908	10	0.87932	D	0	-14.2558	20.206	0.98277	0.0:1.0:0.0:0.0	.	1217;1207	Q59HF8;P31327	.;CPSM_HUMAN	N	1213;1215;1207;756	ENSP00000402608:T1213N;ENSP00000233072:T1207N;ENSP00000406136:T756N	ENSP00000233072:T1207N	T	+	2	0	CPS1	211229555	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	7.340000	0.79292	2.785000	0.95823	0.655000	0.94253	ACT		PASS	0.403	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			15	42	15	42	---	---	---	---
SEC13	6396	broad.mit.edu	37	3	10347307	10347307	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr3:10347307G>A	ENST00000350697.3	-	6	645	c.520C>T	c.(520-522)Cag>Tag	p.Q174*	SEC13_ENST00000383801.2_Nonsense_Mutation_p.Q220*|SEC13_ENST00000397117.1_Nonsense_Mutation_p.Q160*|SEC13_ENST00000492602.1_5'Flank|SEC13_ENST00000397109.3_Nonsense_Mutation_p.Q160*|SEC13_ENST00000337354.4_Nonsense_Mutation_p.Q177*	NM_183352.1	NP_899195.1	P55735	SEC13_HUMAN	SEC13 homolog (S. cerevisiae)	174					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)		p.Q174*(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						TTGGGTTTCTGCCCCGATGGG	0.532																																						uc003bvn.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(520-522)CAG>TAG		SEC13 protein isoform 1							168.0	150.0	156.0					3																	10347307		2203	4300	6503	SO:0001587	stop_gained	6396				COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex	protein binding	g.chr3:10347307G>A		CCDS2599.1, CCDS46751.1, CCDS63540.1	3p25-p24	2013-01-10	2006-11-07	2006-11-07	ENSG00000157020	ENSG00000157020		"""WD repeat domain containing"""	10697	protein-coding gene	gene with protein product		600152	"""SEC13 (S. cerevisiae)-like 1"", ""SEC13-like 1 (S. cerevisiae)"""	D3S1231E, SEC13L1		7987303	Standard	NM_183352		Approved	SEC13R, npp-20	uc003bvn.3	P55735	OTTHUMG00000128671	ENST00000350697.3:c.520C>T	3.37:g.10347307G>A	ENSP00000312122:p.Gln174*					SEC13_uc003bvl.2_Nonsense_Mutation_p.Q106*|SEC13_uc003bvm.2_Nonsense_Mutation_p.Q160*|SEC13_uc003bvp.2_Nonsense_Mutation_p.Q177*|SEC13_uc003bvo.2_Nonsense_Mutation_p.Q220*|SEC13_uc003bvq.1_Nonsense_Mutation_p.Q160*|SEC13_uc003bvr.1_Nonsense_Mutation_p.Q160*	p.Q174*	NM_183352	NP_899195	P55735	SEC13_HUMAN			6	639	-			174			WD 4.		A8MV37|B4DXJ1|Q5BJF0|Q9BRM6|Q9BUG7	Nonsense_Mutation	SNP	ENST00000350697.3	37	c.520C>T	CCDS2599.1	.	.	.	.	.	.	.	.	.	.	G	42	9.666774	0.99233	.	.	ENSG00000157020	ENST00000397109;ENST00000337354;ENST00000350697;ENST00000397117;ENST00000383801	.	.	.	5.67	5.67	0.87782	.	0.053411	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	17.2693	0.87096	0.0:0.0:1.0:0.0	.	.	.	.	X	160;177;174;160;220	.	ENSP00000336566:Q177X	Q	-	1	0	SEC13	10322307	1.000000	0.71417	0.968000	0.41197	0.637000	0.38172	9.727000	0.98787	2.676000	0.91093	0.655000	0.94253	CAG		PASS	0.532	SEC13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250563.3			29	77	29	77	---	---	---	---
FGD5	152273	broad.mit.edu	37	3	14862234	14862234	+	Silent	SNP	C	C	T	rs570835379		TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr3:14862234C>T	ENST00000285046.5	+	1	1766	c.1656C>T	c.(1654-1656)tcC>tcT	p.S552S	FGD5_ENST00000543601.1_Silent_p.S311S	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	552					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.S552S(1)|p.S311S(1)		NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GGTCGTTCTCCGTGGAAGGCC	0.552													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17581	0.0		0.0	False		,,,				2504	0.0					uc003bzc.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|kidney(1)|pancreas(1)	5						c.(1654-1656)TCC>TCT		FYVE, RhoGEF and PH domain containing 5							25.0	26.0	25.0					3																	14862234		1910	4112	6022	SO:0001819	synonymous_variant	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14862234C>T	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.1656C>T	3.37:g.14862234C>T						FGD5_uc011avk.1_Silent_p.S552S	p.S552S	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN			1	1766	+			552					B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Silent	SNP	ENST00000285046.5	37	c.1656C>T	CCDS46767.1																																																																																				PASS	0.552	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		12	21	12	21	---	---	---	---
NGLY1	55768	broad.mit.edu	37	3	25777608	25777608	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr3:25777608G>T	ENST00000280700.5	-	7	1196	c.1036C>A	c.(1036-1038)Cag>Aag	p.Q346K	NGLY1_ENST00000428257.1_Intron|NGLY1_ENST00000396649.3_Missense_Mutation_p.Q346K|NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000467224.1_5'Flank|NGLY1_ENST00000417874.2_Missense_Mutation_p.Q304K	NM_018297.3	NP_060767.2	Q96IV0	NGLY1_HUMAN	N-glycanase 1	346					glycoprotein catabolic process (GO:0006516)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity (GO:0000224)	p.Q346K(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						CACCGCTGCTGAGAAGGAGAA	0.413																																						uc003cdl.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1036-1038)CAG>AAG		N-glycanase 1 isoform 1							51.0	48.0	49.0					3																	25777608		2203	4300	6503	SO:0001583	missense	55768				glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding	g.chr3:25777608G>T	AF250924	CCDS33719.1, CCDS46777.1, CCDS46778.1, CCDS46779.1	3p23	2006-08-30			ENSG00000151092	ENSG00000151092			17646	protein-coding gene	gene with protein product		610661					Standard	NM_018297		Approved	FLJ11005, PNG1	uc003cdl.3	Q96IV0	OTTHUMG00000155600	ENST00000280700.5:c.1036C>A	3.37:g.25777608G>T	ENSP00000280700:p.Gln346Lys					NGLY1_uc010hfg.2_Intron|NGLY1_uc003cdm.2_Missense_Mutation_p.Q346K|NGLY1_uc011awo.1_Missense_Mutation_p.Q304K|NGLY1_uc003cdk.2_RNA	p.Q346K	NM_018297	NP_060767	Q96IV0	NGLY1_HUMAN			7	1144	-			346					B4DJE9|Q59FB1|Q6PJD8|Q9BVR8|Q9NR70	Missense_Mutation	SNP	ENST00000280700.5	37	c.1036C>A	CCDS33719.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.574093	0.65765	.	.	ENSG00000151092	ENST00000280700;ENST00000396649;ENST00000417874	D;D;D	0.87887	-2.31;-2.31;-2.31	5.66	4.79	0.61399	Transglutaminase-like (2);	0.000000	0.85682	D	0.000000	D	0.87732	0.6251	M	0.75150	2.29	0.80722	D	1	B;B;P	0.38455	0.004;0.426;0.632	B;B;B	0.40506	0.03;0.23;0.331	D	0.87288	0.2297	10	0.42905	T	0.14	-11.0864	14.8055	0.69952	0.0693:0.0:0.9307:0.0	.	304;346;346	B4DJE9;Q96IV0-3;Q96IV0	.;.;NGLY1_HUMAN	K	346;346;304	ENSP00000280700:Q346K;ENSP00000379886:Q346K;ENSP00000389888:Q304K	ENSP00000280700:Q346K	Q	-	1	0	NGLY1	25752612	1.000000	0.71417	0.966000	0.40874	0.995000	0.86356	9.799000	0.99117	1.522000	0.49001	0.655000	0.94253	CAG		PASS	0.413	NGLY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340832.2			7	21	7	21	---	---	---	---
OSBPL10	114884	broad.mit.edu	37	3	31871555	31871555	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr3:31871555C>T	ENST00000396556.2	-	4	828	c.706G>A	c.(706-708)Ggc>Agc	p.G236S	OSBPL10_ENST00000467647.1_5'UTR|OSBPL10_ENST00000438237.2_Intron	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	236					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)	p.G236S(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		TGAAGCTGGCCGGAATACTGA	0.597																																						uc003cev.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(706-708)GGC>AGC		oxysterol-binding protein-like protein 10							59.0	51.0	54.0					3																	31871555		2203	4300	6503	SO:0001583	missense	114884				lipid transport		lipid binding	g.chr3:31871555C>T	AF392451	CCDS2651.1, CCDS54559.1	3p23	2013-01-10			ENSG00000144645	ENSG00000144645		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16395	protein-coding gene	gene with protein product		606738					Standard	NM_001174060		Approved		uc021wuu.1	Q9BXB5	OTTHUMG00000130672	ENST00000396556.2:c.706G>A	3.37:g.31871555C>T	ENSP00000379804:p.Gly236Ser					OSBPL10_uc003ceu.1_5'UTR|OSBPL10_uc011axf.1_Intron	p.G236S	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN		STAD - Stomach adenocarcinoma(1;0.00406)	5	1087	-			236					B4E212|Q9BTU5	Missense_Mutation	SNP	ENST00000396556.2	37	c.706G>A	CCDS2651.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.818309	0.90790	.	.	ENSG00000144645	ENST00000396556;ENST00000428241	T;T	0.40756	1.02;1.02	5.81	4.93	0.64822	.	0.092104	0.85682	D	0.000000	T	0.26268	0.0641	L	0.29908	0.895	0.80722	D	1	P	0.40230	0.708	B	0.29942	0.109	T	0.06516	-1.0822	10	0.09084	T	0.74	-12.6238	16.3168	0.82931	0.1333:0.8667:0.0:0.0	.	236	Q9BXB5	OSB10_HUMAN	S	236;15	ENSP00000379804:G236S;ENSP00000399200:G15S	ENSP00000379804:G236S	G	-	1	0	OSBPL10	31846559	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.133000	0.64764	1.449000	0.47699	0.561000	0.74099	GGC		PASS	0.597	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253165.2			7	20	7	20	---	---	---	---
XIRP1	165904	broad.mit.edu	37	3	39227557	39227557	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr3:39227557A>T	ENST00000340369.3	-	2	3608	c.3380T>A	c.(3379-3381)cTa>cAa	p.L1127Q	XIRP1_ENST00000396251.1_Intron|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1127					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)	p.L1127Q(1)		breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CCCTCTGGGTAGTGCTTGCTC	0.602																																						uc003cjk.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8						c.(3379-3381)CTA>CAA		xin actin-binding repeat containing 1							66.0	71.0	69.0					3																	39227557		2203	4300	6503	SO:0001583	missense	165904						actin binding	g.chr3:39227557A>T	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.3380T>A	3.37:g.39227557A>T	ENSP00000343140:p.Leu1127Gln					XIRP1_uc003cji.2_Intron|XIRP1_uc003cjj.2_Intron	p.L1127Q	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	3601	-			1127					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	c.3380T>A	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	A	9.026	0.986165	0.18889	.	.	ENSG00000168334	ENST00000340369	T	0.03607	3.87	4.56	-1.83	0.07833	.	1.241510	0.06177	U	0.678756	T	0.04679	0.0127	L	0.47716	1.5	0.09310	N	1	P	0.37864	0.61	B	0.37387	0.248	T	0.46693	-0.9173	10	0.28530	T	0.3	.	9.7034	0.40200	0.5272:0.0:0.4728:0.0	.	1127	Q702N8	XIRP1_HUMAN	Q	1127	ENSP00000343140:L1127Q	ENSP00000343140:L1127Q	L	-	2	0	XIRP1	39202561	0.000000	0.05858	0.000000	0.03702	0.575000	0.36095	0.203000	0.17315	-0.176000	0.10707	0.459000	0.35465	CTA		PASS	0.602	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		21	27	21	27	---	---	---	---
TRAK1	22906	broad.mit.edu	37	3	42133051	42133051	+	Splice_Site	SNP	T	T	A			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr3:42133051T>A	ENST00000327628.5	+	1	490	c.90T>A	c.(88-90)tgT>tgA	p.C30*	TRAK1_ENST00000487159.1_Intron	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	30					endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.C30*(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CAAACGCCTGTGGTAAGTTTG	0.527																																					GBM(44;195 884 22595 31865 41850)	uc003cky.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(88-90)TGT>TGA		OGT(O-Glc-NAc transferase)-interacting protein							78.0	75.0	76.0					3																	42133051		1937	4139	6076	SO:0001630	splice_region_variant	22906				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		g.chr3:42133051T>A		CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"""OGT(O Glc NAc transferase) interacting protein 106 KDa"", ""O-linked N-acetylglucosamine transferase interacting protein 106"", ""milton homolog 1 (Drosophila)"""	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.91+1T>A	3.37:g.42133051T>A						TRAK1_uc011azh.1_Nonsense_Mutation_p.C30*|TRAK1_uc011azi.1_Nonsense_Mutation_p.C30*	p.C30*	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN			1	306	+			30					E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Nonsense_Mutation	SNP	ENST00000327628.5	37	c.90T>A	CCDS43072.1	.	.	.	.	.	.	.	.	.	.	T	37	6.580017	0.97680	.	.	ENSG00000182606	ENST00000327628;ENST00000543338	.	.	.	4.17	3.01	0.34805	.	1.007950	0.08002	N	0.988985	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	6.5533	0.22446	0.0:0.1109:0.0:0.8891	.	.	.	.	X	30	.	ENSP00000328998:C30X	C	+	3	2	TRAK1	42108055	0.154000	0.22792	0.926000	0.36857	0.096000	0.18686	-0.254000	0.08781	0.752000	0.32923	-0.376000	0.06991	TGT		PASS	0.527	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965	Nonsense_Mutation	5	5	5	5	---	---	---	---
PDE12	201626	broad.mit.edu	37	3	57545540	57545540	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr3:57545540C>A	ENST00000311180.8	+	3	1742	c.1639C>A	c.(1639-1641)Cct>Act	p.P547T	PDE12_ENST00000487257.1_3'UTR	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	547					mRNA processing (GO:0006397)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)	p.P547T(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		TTGTGGTGAACCTGCTTACAC	0.403																																					Colon(125;308 1634 19198 50622 50717)	uc003diw.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1639-1641)CCT>ACT		phosphodiesterase 12							263.0	250.0	254.0					3																	57545540		2203	4300	6503	SO:0001583	missense	201626						hydrolase activity	g.chr3:57545540C>A	AK074423	CCDS33772.1	3p14.3	2013-10-11			ENSG00000174840	ENSG00000174840			25386	protein-coding gene	gene with protein product	"""2'-phosphodiesterase"""					15231837	Standard	NM_177966		Approved	DKFZp667B1218, 2'-PDE	uc003diw.4	Q6L8Q7	OTTHUMG00000158599	ENST00000311180.8:c.1639C>A	3.37:g.57545540C>A	ENSP00000309142:p.Pro547Thr					PDE12_uc003div.2_3'UTR	p.P547T	NM_177966	NP_808881	Q6L8Q7	PDE12_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)	3	1765	+			547					B4DTU8|Q8IYU3|Q8NDU2|Q8TE78	Missense_Mutation	SNP	ENST00000311180.8	37	c.1639C>A	CCDS33772.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.179674	0.78564	.	.	ENSG00000174840	ENST00000311180	D	0.81996	-1.56	5.83	4.96	0.65561	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.85682	D	0.000000	D	0.90947	0.7154	M	0.86864	2.845	0.80722	D	1	P	0.50943	0.94	P	0.62014	0.897	D	0.90921	0.4783	10	0.38643	T	0.18	-10.1442	14.8893	0.70594	0.0:0.9313:0.0:0.0687	.	547	Q6L8Q7	PDE12_HUMAN	T	547	ENSP00000309142:P547T	ENSP00000309142:P547T	P	+	1	0	PDE12	57520580	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.214000	0.77958	1.474000	0.48178	0.557000	0.71058	CCT		PASS	0.403	PDE12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351440.2	NM_177966		46	45	46	45	---	---	---	---
STXBP5L	9515	broad.mit.edu	37	3	121100357	121100357	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr3:121100357G>T	ENST00000273666.6	+	23	2908	c.2637G>T	c.(2635-2637)gaG>gaT	p.E879D	STXBP5L_ENST00000497029.1_Missense_Mutation_p.E853D|STXBP5L_ENST00000471454.1_Missense_Mutation_p.E855D|STXBP5L_ENST00000472879.1_Missense_Mutation_p.E855D|STXBP5L_ENST00000492541.1_Missense_Mutation_p.E879D	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	879					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E879D(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GGTTTACAGAGCCAGTCATGG	0.358																																						uc003eec.3																			1	Substitution - Missense(1)		lung(1)	ovary(7)|skin(2)	9						c.(2635-2637)GAG>GAT		syntaxin binding protein 5-like							137.0	128.0	131.0					3																	121100357		1895	4111	6006	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:121100357G>T	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.2637G>T	3.37:g.121100357G>T	ENSP00000273666:p.Glu879Asp					STXBP5L_uc011bji.1_Missense_Mutation_p.E855D	p.E879D	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	23	2777	+			879			WD 11.		Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.2637G>T	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.934898	0.34189	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98;1.98	5.1	3.31	0.37934	Lethal giant larvae (Lgl)-like, C-terminal (1);	0.112377	0.64402	D	0.000011	T	0.17916	0.0430	L	0.46157	1.445	0.47778	D	0.999518	B;B	0.21606	0.058;0.058	B;B	0.24701	0.055;0.055	T	0.04885	-1.0920	10	0.22706	T	0.39	-13.1907	9.4665	0.38816	0.2267:0.0:0.7733:0.0	.	855;879	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	D	879;855;855;853;879;822	ENSP00000273666:E879D;ENSP00000420019:E855D;ENSP00000419627:E855D;ENSP00000420287:E853D;ENSP00000420666:E879D;ENSP00000420167:E822D	ENSP00000273666:E879D	E	+	3	2	STXBP5L	122583047	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	0.544000	0.23253	0.740000	0.32651	0.650000	0.86243	GAG		PASS	0.358	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			51	40	51	40	---	---	---	---
COPG1	22820	broad.mit.edu	37	3	128996139	128996139	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr3:128996139G>A	ENST00000314797.6	+	24	2601	c.2497G>A	c.(2497-2499)Gtg>Atg	p.V833M	HMCES_ENST00000383463.4_5'Flank|HMCES_ENST00000389735.3_5'Flank|HMCES_ENST00000502878.2_5'Flank|HMCES_ENST00000417226.2_5'Flank	NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1	833	Interaction with ZNF289/ARFGAP2.				COPI coating of Golgi vesicle (GO:0048205)|establishment of Golgi localization (GO:0051683)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|organelle transport along microtubule (GO:0072384)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)	structural molecule activity (GO:0005198)	p.V833M(1)									CCTTCTAGGTGTGTTCCGGGG	0.542																																						uc003els.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(2497-2499)GTG>ATG		coatomer protein complex, subunit gamma 1							185.0	172.0	176.0					3																	128996139		2203	4300	6503	SO:0001583	missense	22820				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:128996139G>A	AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789			2236	protein-coding gene	gene with protein product	"""coat protein gamma-cop"""	615525	"""coatomer protein complex, subunit gamma"""	COPG		11056392	Standard	NM_016128		Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	ENST00000314797.6:c.2497G>A	3.37:g.128996139G>A	ENSP00000325002:p.Val833Met					COPG_uc010htb.2_Missense_Mutation_p.V739M|C3orf37_uc003elt.2_5'Flank|C3orf37_uc003elu.2_5'Flank|C3orf37_uc003elv.2_5'Flank|C3orf37_uc003elw.2_5'Flank	p.V833M	NM_016128	NP_057212	Q9Y678	COPG_HUMAN			24	2597	+			833			Interaction with ZNF289/ARFGAP2.		A8K6M8|B3KMF6|Q54AC4	Missense_Mutation	SNP	ENST00000314797.6	37	c.2497G>A	CCDS33851.1	.	.	.	.	.	.	.	.	.	.	.	26.0	4.691998	0.88735	.	.	ENSG00000181789	ENST00000314797	T	0.19105	2.17	5.55	5.55	0.83447	Coatomer/calthrin adaptor appendage, C-terminal subdomain (1);Clathrin alpha-adaptin/coatomer adaptor, appendage, C-terminal subdomain (1);Coatomer, gamma subunit , appendage (1);	0.000000	0.64402	D	0.000011	T	0.42359	0.1199	L	0.56199	1.76	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	T	0.04781	-1.0927	10	0.38643	T	0.18	-20.9993	16.9981	0.86373	0.0:0.0:1.0:0.0	.	833	Q9Y678	COPG_HUMAN	M	833	ENSP00000325002:V833M	ENSP00000325002:V833M	V	+	1	0	COPG	130478829	1.000000	0.71417	0.998000	0.56505	0.950000	0.60333	9.516000	0.98017	2.626000	0.88956	0.484000	0.47621	GTG		PASS	0.542	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355456.1	NM_016128		5	102	5	102	---	---	---	---
GPR87	53836	broad.mit.edu	37	3	151012086	151012086	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr3:151012086G>T	ENST00000260843.4	-	3	1412	c.948C>A	c.(946-948)ttC>ttA	p.F316L	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	316					negative regulation of adenylate cyclase activity (GO:0007194)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)	p.F316L(1)		endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACCTACACATGAAAAAGTAAA	0.348																																						uc003eyt.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(946-948)TTC>TTA		G protein-coupled receptor 87							120.0	123.0	122.0					3																	151012086		2203	4300	6503	SO:0001583	missense	53836					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:151012086G>T	AF237763	CCDS3157.1	3q24	2012-08-21			ENSG00000138271	ENSG00000138271		"""GPCR / Class A : Orphans"""	4538	protein-coding gene	gene with protein product		606379		GPR95		11273702	Standard	NM_023915		Approved		uc003eyt.2	Q9BY21	OTTHUMG00000159858	ENST00000260843.4:c.948C>A	3.37:g.151012086G>T	ENSP00000260843:p.Phe316Leu					MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron	p.F316L	NM_023915	NP_076404	Q9BY21	GPR87_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	1309	-			316			Helical; Name=7; (Potential).		Q5KU35|Q96JZ8|Q9BXC2	Missense_Mutation	SNP	ENST00000260843.4	37	c.948C>A	CCDS3157.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.155181	0.57259	.	.	ENSG00000138271	ENST00000260843	T	0.18657	2.2	5.24	3.39	0.38822	.	0.064498	0.64402	D	0.000005	T	0.09158	0.0226	N	0.08118	0	0.49483	D	0.999792	P	0.43750	0.816	B	0.36766	0.232	T	0.21895	-1.0232	10	0.34782	T	0.22	-12.9981	8.9667	0.35881	0.2363:0.0:0.7637:0.0	.	316	Q9BY21	GPR87_HUMAN	L	316	ENSP00000260843:F316L	ENSP00000260843:F316L	F	-	3	2	GPR87	152494776	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.541000	0.36126	0.661000	0.30985	0.655000	0.94253	TTC		PASS	0.348	GPR87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357788.1			58	80	58	80	---	---	---	---
NMD3	51068	broad.mit.edu	37	3	160965101	160965101	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr3:160965101G>A	ENST00000460469.1	+	12	1641	c.1186G>A	c.(1186-1188)Gat>Aat	p.D396N	NMD3_ENST00000472947.1_Missense_Mutation_p.D396N|NMD3_ENST00000351193.2_Missense_Mutation_p.D396N			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	396					protein transport (GO:0015031)|ribosomal large subunit export from nucleus (GO:0000055)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|ribosomal large subunit binding (GO:0043023)	p.D396N(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			AATGAACTCAGATAGAGTTCC	0.363																																						uc003feb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1186-1188)GAT>AAT		NMD3 homolog							177.0	170.0	172.0					3																	160965101		2203	4300	6503	SO:0001583	missense	51068				protein transport	cytoplasm|nucleolus|nucleoplasm		g.chr3:160965101G>A	BC013317	CCDS3194.1	3q26.1	2013-08-06	2013-08-06		ENSG00000169251	ENSG00000169251			24250	protein-coding gene	gene with protein product		611021	"""NMD3 homolog (S. cerevisiae)"""			10810093, 23782956, 12773398	Standard	NM_015938		Approved	CGI-07	uc003feb.1	Q96D46	OTTHUMG00000159063	ENST00000460469.1:c.1186G>A	3.37:g.160965101G>A	ENSP00000419004:p.Asp396Asn					NMD3_uc003fec.2_Missense_Mutation_p.D396N|NMD3_uc003fed.1_Missense_Mutation_p.D396N|NMD3_uc010hwh.2_Missense_Mutation_p.D216N	p.D396N	NM_015938	NP_057022	Q96D46	NMD3_HUMAN	Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)		13	1305	+			396					D3DNM7|Q9Y2Z6	Missense_Mutation	SNP	ENST00000460469.1	37	c.1186G>A	CCDS3194.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.528467	0.44969	.	.	ENSG00000169251	ENST00000351193;ENST00000472947;ENST00000460469;ENST00000540137	T;T;T	0.22134	1.97;1.97;1.97	4.81	3.92	0.45320	.	0.272687	0.41097	D	0.000945	T	0.13927	0.0337	L	0.33293	1	0.42839	D	0.994047	B;B;B	0.20887	0.006;0.009;0.049	B;B;B	0.16722	0.009;0.009;0.016	T	0.07121	-1.0789	10	0.33940	T	0.23	-30.302	6.9105	0.24333	0.0969:0.3016:0.6016:0.0	.	396;396;396	B3KT11;C9JA08;Q96D46	.;.;NMD3_HUMAN	N	396;396;396;276	ENSP00000307525:D396N;ENSP00000417559:D396N;ENSP00000419004:D396N	ENSP00000307525:D396N	D	+	1	0	NMD3	162447795	1.000000	0.71417	0.944000	0.38274	0.989000	0.77384	4.683000	0.61679	2.598000	0.87819	0.650000	0.86243	GAT		PASS	0.363	NMD3-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353114.1	NM_015938		4	61	4	61	---	---	---	---
MB21D2	151963	broad.mit.edu	37	3	192516538	192516538	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr3:192516538G>T	ENST00000392452.2	-	2	1433	c.1113C>A	c.(1111-1113)aaC>aaA	p.N371K		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	371							protein complex binding (GO:0032403)	p.N369K(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						GGCACATCTTGTTGACCAGAC	0.532																																						uc011bsp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1111-1113)AAC>AAA		hypothetical protein LOC151963							79.0	63.0	68.0					3																	192516538		2203	4300	6503	SO:0001583	missense	151963							g.chr3:192516538G>T	AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 59"""	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.1113C>A	3.37:g.192516538G>T	ENSP00000376246:p.Asn371Lys						p.N371K	NM_178496	NP_848591	Q8IYB1	M21D2_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.8e-18)|LUSC - Lung squamous cell carcinoma(58;8.04e-06)|Lung(62;8.62e-06)	GBM - Glioblastoma multiforme(46;3.86e-05)	2	1434	-	all_cancers(143;1.56e-08)|Ovarian(172;0.0634)		371					Q86VD8	Missense_Mutation	SNP	ENST00000392452.2	37	c.1113C>A	CCDS3302.2	.	.	.	.	.	.	.	.	.	.	G	12.35	1.910270	0.33721	.	.	ENSG00000180611	ENST00000392452	T	0.07216	3.21	5.28	5.28	0.74379	.	0.104731	0.64402	D	0.000002	T	0.09291	0.0229	L	0.50333	1.59	0.80722	D	1	B	0.25772	0.134	B	0.23419	0.046	T	0.07809	-1.0753	10	0.05436	T	0.98	.	17.9275	0.88988	0.0:0.0:1.0:0.0	.	371	Q8IYB1	M21D2_HUMAN	K	371	ENSP00000376246:N371K	ENSP00000376246:N371K	N	-	3	2	MB21D2	193999232	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.072000	0.57563	2.455000	0.83008	0.655000	0.94253	AAC		PASS	0.532	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341543.1	NM_178496		7	52	7	52	---	---	---	---
ACAP2	23527	broad.mit.edu	37	3	195027347	195027347	+	Splice_Site	SNP	T	T	A			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr3:195027347T>A	ENST00000326793.6	-	13	1241		c.e13-2			NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2						cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.?(1)		cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						ATGCAACTTCTAAAAGGAAAT	0.373																																						uc003fun.3																			1	Unknown(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.e13-1		centaurin, beta 2							90.0	92.0	91.0					3																	195027347		2203	4300	6503	SO:0001630	splice_region_variant	23527				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr3:195027347T>A		CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16469	protein-coding gene	gene with protein product		607766	"""centaurin, beta 2"""	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.1011-2A>T	3.37:g.195027347T>A							p.K337_splice	NM_012287	NP_036419	Q15057	ACAP2_HUMAN			13	1252	-								A8K2V4|Q8N5Z8|Q9UQR3	Splice_Site	SNP	ENST00000326793.6	37	c.1011_splice	CCDS33924.1	.	.	.	.	.	.	.	.	.	.	T	17.33	3.362666	0.61403	.	.	ENSG00000114331	ENST00000326793;ENST00000439758	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1145	0.72392	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ACAP2	196508636	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	8.040000	0.89188	2.150000	0.67090	0.496000	0.49642	.		PASS	0.373	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342126.2	NM_012287	Intron	79	90	79	90	---	---	---	---
ABLIM2	84448	broad.mit.edu	37	4	8046942	8046942	+	Silent	SNP	G	G	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr4:8046942G>T	ENST00000341937.5	-	9	913	c.849C>A	c.(847-849)atC>atA	p.I283I	ABLIM2_ENST00000505872.1_Silent_p.I283I|ABLIM2_ENST00000545242.1_Silent_p.I283I|ABLIM2_ENST00000407564.3_Silent_p.I283I|ABLIM2_ENST00000361737.5_Silent_p.I283I|ABLIM2_ENST00000318888.4_Silent_p.I40I|ABLIM2_ENST00000361581.5_Silent_p.I283I|ABLIM2_ENST00000447017.2_Silent_p.I283I|ABLIM2_ENST00000546334.1_Silent_p.I283I|ABLIM2_ENST00000514025.1_Silent_p.I40I|ABLIM2_ENST00000428004.2_Silent_p.I283I|ABLIM2_ENST00000296372.8_Silent_p.I283I	NM_001130084.1	NP_001123556.1	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	283					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|myofibril (GO:0030016)	zinc ion binding (GO:0008270)	p.I283I(1)		NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						GGACAGAAATGATGCTCTCTG	0.537																																						uc003gko.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(3)	3						c.(847-849)ATC>ATA		actin binding LIM protein family, member 2							103.0	107.0	105.0					4																	8046942		1918	4128	6046	SO:0001819	synonymous_variant	84448				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding	g.chr4:8046942G>T	AB058711	CCDS47011.1, CCDS47012.1, CCDS47013.1, CCDS47014.1, CCDS47015.1, CCDS47016.1, CCDS54719.1, CCDS68669.1	4p16.1	2012-05-16			ENSG00000163995	ENSG00000163995			19195	protein-coding gene	gene with protein product		612544	"""actin binding LIM protein 2"""				Standard	NM_001130083		Approved	KIAA1808	uc003gkj.4	Q6H8Q1	OTTHUMG00000057427	ENST00000341937.5:c.849C>A	4.37:g.8046942G>T						ABLIM2_uc003gkl.2_Silent_p.I33I|ABLIM2_uc003gkj.3_Silent_p.I283I|ABLIM2_uc003gkm.3_Silent_p.I283I|ABLIM2_uc003gkp.2_Silent_p.I283I|ABLIM2_uc003gkq.2_Silent_p.I283I|ABLIM2_uc003gkr.2_Silent_p.I283I|ABLIM2_uc003gks.3_Silent_p.I283I|ABLIM2_uc011bwl.1_Silent_p.I288I	p.I283I	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN			9	992	-			283					E9PF39|Q08E71|Q19VH0|Q6H8Q0|Q6NX73|Q8N3C5|Q8N9E9|Q8N9G2|Q96JL7	Silent	SNP	ENST00000341937.5	37	c.849C>A	CCDS47013.1																																																																																				PASS	0.537	ABLIM2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358862.2	NM_001130083		16	49	16	49	---	---	---	---
RELL1	768211	broad.mit.edu	37	4	37633048	37633048	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr4:37633048C>G	ENST00000454158.2	-	6	866	c.778G>C	c.(778-780)Gca>Cca	p.A260P	RELL1_ENST00000314117.4_Missense_Mutation_p.A260P	NM_001085400.1	NP_001078869.1	Q8IUW5	RELL1_HUMAN	RELT-like 1	260						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)		p.A260P(1)		endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6						ACAGGTGTTGCCGGCACCTCC	0.532																																						uc003gsz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(778-780)GCA>CCA		receptor expressed in lymphoid tissues like 1							134.0	136.0	135.0					4																	37633048		2057	4182	6239	SO:0001583	missense	768211					cytoplasm|integral to membrane|microtubule cytoskeleton|plasma membrane		g.chr4:37633048C>G	AK025431	CCDS43221.1	4p14	2011-10-11				ENSG00000181826			27379	protein-coding gene	gene with protein product		611212				16389068	Standard	NM_001085399		Approved		uc003gsz.2	Q8IUW5		ENST00000454158.2:c.778G>C	4.37:g.37633048C>G	ENSP00000398778:p.Ala260Pro					RELL1_uc010ifc.2_Missense_Mutation_p.A260P	p.A260P	NM_001085399	NP_001078868	Q8IUW5	RELL1_HUMAN			6	868	-			260			Cytoplasmic (Potential).		Q8NBK1	Missense_Mutation	SNP	ENST00000454158.2	37	c.778G>C	CCDS43221.1	.	.	.	.	.	.	.	.	.	.	C	4.596	0.110749	0.08780	.	.	ENSG00000181826	ENST00000314117;ENST00000454158	T;T	0.35236	1.32;1.32	5.21	1.26	0.21427	.	1.207060	0.05886	N	0.627360	T	0.39600	0.1084	L	0.56769	1.78	0.28266	N	0.924628	P	0.42123	0.771	P	0.45428	0.48	T	0.30031	-0.9992	10	0.30854	T	0.27	-14.0159	6.3704	0.21479	0.2592:0.6004:0.0:0.1404	.	260	Q8IUW5	RELL1_HUMAN	P	260	ENSP00000313385:A260P;ENSP00000398778:A260P	ENSP00000313385:A260P	A	-	1	0	RELL1	37309443	0.002000	0.14202	0.224000	0.23877	0.050000	0.14768	0.922000	0.28734	0.180000	0.19960	-0.140000	0.14226	GCA		PASS	0.532	RELL1-002	KNOWN	alternative_3_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360485.1	NM_001085400		22	58	22	58	---	---	---	---
REST	5978	broad.mit.edu	37	4	57797830	57797830	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr4:57797830G>T	ENST00000309042.7	+	4	3120	c.2806G>T	c.(2806-2808)Ggt>Tgt	p.G936C		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	936					cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|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 transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.G936C(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					AACTTTAAATGGTAAACATCA	0.388																																						uc003hch.2																			1	Substitution - Missense(1)		lung(1)	skin(5)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	9						c.(2806-2808)GGT>TGT		RE1-silencing transcription factor							65.0	63.0	64.0					4																	57797830		2203	4300	6503	SO:0001583	missense	5978				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	g.chr4:57797830G>T	U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.2806G>T	4.37:g.57797830G>T	ENSP00000311816:p.Gly936Cys					REST_uc003hci.2_Missense_Mutation_p.G936C|REST_uc010ihf.2_Missense_Mutation_p.G610C	p.G936C	NM_005612	NP_005603	Q13127	REST_HUMAN			4	3153	+	Glioma(25;0.08)|all_neural(26;0.181)		936					A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	ENST00000309042.7	37	c.2806G>T	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.633462	0.29068	.	.	ENSG00000084093	ENST00000309042;ENST00000358605	T	0.08458	3.09	5.32	3.14	0.36123	.	0.882556	0.09582	N	0.782634	T	0.13586	0.0329	L	0.36672	1.1	0.09310	N	1	D;P	0.67145	0.996;0.951	P;B	0.56216	0.794;0.436	T	0.22591	-1.0212	10	0.72032	D	0.01	-2.2504	6.2925	0.21067	0.2182:0.1455:0.6363:0.0	.	913;936	F8WAN5;Q13127	.;REST_HUMAN	C	936;913	ENSP00000311816:G936C	ENSP00000311816:G936C	G	+	1	0	REST	57492587	0.002000	0.14202	0.001000	0.08648	0.085000	0.17905	0.699000	0.25586	1.047000	0.40274	0.655000	0.94253	GGT		PASS	0.388	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612		4	37	4	37	---	---	---	---
SOWAHB	345079	broad.mit.edu	37	4	77816829	77816829	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr4:77816829G>T	ENST00000334306.2	-	1	2173	c.2174C>A	c.(2173-2175)gCt>gAt	p.A725D		NM_001029870.1	NP_001025041.1	A6NEL2	SWAHB_HUMAN	sosondowah ankyrin repeat domain family member B	725								p.A725D(1)									GCCCCGAGGAGCTCCCAACAG	0.507																																						uc003hki.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2173-2175)GCT>GAT		ankyrin repeat domain 56							168.0	193.0	185.0					4																	77816829		2203	4300	6503	SO:0001583	missense	345079							g.chr4:77816829G>T		CCDS34017.1	4q21.1	2013-01-10	2012-01-12	2012-01-12	ENSG00000186212	ENSG00000186212		"""Ankyrin repeat domain containing"""	32958	protein-coding gene	gene with protein product			"""ankyrin repeat domain 56"""	ANKRD56		22234889	Standard	NM_001029870		Approved		uc003hki.3	A6NEL2	OTTHUMG00000160876	ENST00000334306.2:c.2174C>A	4.37:g.77816829G>T	ENSP00000334879:p.Ala725Asp						p.A725D	NM_001029870	NP_001025041	A6NEL2	ANR56_HUMAN			1	2174	-			725					B2RP29	Missense_Mutation	SNP	ENST00000334306.2	37	c.2174C>A	CCDS34017.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.758223	0.49468	.	.	ENSG00000186212	ENST00000334306	T	0.05996	3.36	5.5	3.72	0.42706	.	0.000000	0.64402	U	0.000014	T	0.07458	0.0188	L	0.39245	1.2	0.41965	D	0.990723	P	0.43287	0.802	B	0.40940	0.344	T	0.35699	-0.9778	10	0.22109	T	0.4	-15.8025	15.826	0.78706	0.0:0.3053:0.6947:0.0	.	725	A6NEL2	ANR56_HUMAN	D	725	ENSP00000334879:A725D	ENSP00000334879:A725D	A	-	2	0	ANKRD56	78035853	1.000000	0.71417	0.982000	0.44146	0.555000	0.35460	3.291000	0.51764	0.768000	0.33290	0.655000	0.94253	GCT		PASS	0.507	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362762.1	NM_001029870		42	142	42	142	---	---	---	---
NEUROG2	63973	broad.mit.edu	37	4	113436154	113436154	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr4:113436154A>G	ENST00000313341.3	-	2	804	c.478T>C	c.(478-480)Tac>Cac	p.Y160H	RP11-402J6.1_ENST00000506057.1_RNA|RP11-402J6.1_ENST00000504009.1_RNA	NM_024019.3	NP_076924.1	Q9H2A3	NGN2_HUMAN	neurogenin 2	160	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				axon guidance (GO:0007411)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	E-box binding (GO:0070888)|sequence-specific DNA binding (GO:0043565)	p.Y160H(1)		central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		GCCCAGATGTAGTTGTGGGCG	0.697																																						uc003ias.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(478-480)TAC>CAC		neurogenin 2							45.0	44.0	44.0					4																	113436154		2203	4300	6503	SO:0001583	missense	63973				positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nucleus	E-box binding	g.chr4:113436154A>G	AF303002	CCDS3698.1	4q25	2013-05-21			ENSG00000178403	ENSG00000178403		"""Basic helix-loop-helix proteins"""	13805	protein-coding gene	gene with protein product		606624					Standard	NM_024019		Approved	Atoh4, Math4A, ngn-2, bHLHa8, NGN2	uc003ias.3	Q9H2A3	OTTHUMG00000132907	ENST00000313341.3:c.478T>C	4.37:g.113436154A>G	ENSP00000317333:p.Tyr160His						p.Y160H	NM_024019	NP_076924	Q9H2A3	NGN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00168)	2	805	-		Ovarian(17;0.156)	160			Helix-loop-helix motif.		Q8N416	Missense_Mutation	SNP	ENST00000313341.3	37	c.478T>C	CCDS3698.1	.	.	.	.	.	.	.	.	.	.	A	19.95	3.921259	0.73213	.	.	ENSG00000178403	ENST00000313341	D	0.99282	-5.68	3.76	3.76	0.43208	Helix-loop-helix DNA-binding (5);	0.000000	0.42420	D	0.000707	D	0.99465	0.9810	M	0.93939	3.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98708	1.0703	10	0.87932	D	0	-12.6419	10.5166	0.44894	1.0:0.0:0.0:0.0	.	160	Q9H2A3	NGN2_HUMAN	H	160	ENSP00000317333:Y160H	ENSP00000317333:Y160H	Y	-	1	0	NEUROG2	113655603	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.573000	0.90759	1.574000	0.49760	0.460000	0.39030	TAC		PASS	0.697	NEUROG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256414.1	NM_024019		11	22	11	22	---	---	---	---
NDST4	64579	broad.mit.edu	37	4	115773882	115773882	+	Splice_Site	SNP	T	T	C			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr4:115773882T>C	ENST00000264363.2	-	8	2493	c.1815A>G	c.(1813-1815)acA>acG	p.T605T		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	605	Heparan sulfate N-sulfotransferase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)	p.T605T(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TATTTTTACCTGTTTTTTGTG	0.303																																						uc003ibu.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(1)	4						c.(1813-1815)ACA>ACG		heparan sulfate N-deacetylase/N-sulfotransferase							117.0	114.0	115.0					4																	115773882		2203	4298	6501	SO:0001630	splice_region_variant	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115773882T>C	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1816+1A>G	4.37:g.115773882T>C						NDST4_uc010imw.2_RNA	p.T605T	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	8	2494	-		Ovarian(17;0.156)	605			Lumenal (Potential).|Heparan sulfate N-sulfotransferase 4.|PAPS (By similarity).		Q2KHM8	Silent	SNP	ENST00000264363.2	37	c.1815A>G	CCDS3706.1																																																																																				PASS	0.303	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569	Silent	5	8	5	8	---	---	---	---
NDST4	64579	broad.mit.edu	37	4	115997337	115997337	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr4:115997337C>G	ENST00000264363.2	-	2	1534	c.856G>C	c.(856-858)Gat>Cat	p.D286H		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	286	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)	p.D286H(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GAGATGGCATCTATGAAGATG	0.443																																						uc003ibu.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(856-858)GAT>CAT		heparan sulfate N-deacetylase/N-sulfotransferase							181.0	164.0	170.0					4																	115997337		2203	4300	6503	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115997337C>G	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.856G>C	4.37:g.115997337C>G	ENSP00000264363:p.Asp286His					NDST4_uc010imw.2_Intron	p.D286H	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	2	1535	-		Ovarian(17;0.156)	286			Lumenal (Potential).|Heparan sulfate N-deacetylase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.856G>C	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.312805	0.81358	.	.	ENSG00000138653	ENST00000264363	T	0.58060	0.36	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.80491	0.4633	M	0.92268	3.29	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84954	0.0873	10	0.87932	D	0	.	19.5505	0.95315	0.0:1.0:0.0:0.0	.	286	Q9H3R1	NDST4_HUMAN	H	286	ENSP00000264363:D286H	ENSP00000264363:D286H	D	-	1	0	NDST4	116216786	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.770000	0.85390	2.610000	0.88304	0.591000	0.81541	GAT		PASS	0.443	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		47	49	47	49	---	---	---	---
PLRG1	5356	broad.mit.edu	37	4	155458514	155458514	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr4:155458514A>G	ENST00000499023.2	-	14	1535	c.1409T>C	c.(1408-1410)tTt>tCt	p.F470S	PLRG1_ENST00000393905.2_Missense_Mutation_p.F470S|PLRG1_ENST00000302078.5_Missense_Mutation_p.F461S	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	470					mRNA splicing, via spliceosome (GO:0000398)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|protein localization to nucleus (GO:0034504)|regulation of RNA biosynthetic process (GO:2001141)|signal transduction (GO:0007165)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)	p.F470S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				AGACTGATCAAAAGCACAAGC	0.423																																						uc003iny.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1408-1410)TTT>TCT		pleiotropic regulator 1 (PRL1 homolog,							121.0	116.0	117.0					4																	155458514		2203	4299	6502	SO:0001583	missense	5356					catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity	g.chr4:155458514A>G	AF044333	CCDS34083.1, CCDS56341.1	4q31.2-q32.1	2013-01-10	2011-05-19		ENSG00000171566	ENSG00000171566		"""WD repeat domain containing"""	9089	protein-coding gene	gene with protein product	"""transport and golgi organization 4 homolog (Drosophila)"""	605961	"""pleiotropic regulator 1 (PRL1, Arabidopsis homolog)"", ""pleiotropic regulator 1 (PRL1 homolog, Arabidopsis)"""				Standard	NM_002669		Approved	PRL1, Prp46, PRPF46, Cwc1, TANGO4	uc003iny.3	O43660	OTTHUMG00000161411	ENST00000499023.2:c.1409T>C	4.37:g.155458514A>G	ENSP00000424417:p.Phe470Ser					PLRG1_uc003inz.2_Missense_Mutation_p.F461S	p.F470S	NM_002669	NP_002660	O43660	PLRG1_HUMAN			14	1472	-	all_hematologic(180;0.215)	Renal(120;0.0854)	470			WD 7.		B3KMK4|Q3KQY5|Q8WUD8	Missense_Mutation	SNP	ENST00000499023.2	37	c.1409T>C	CCDS34083.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.780376	0.90195	.	.	ENSG00000171566	ENST00000499023;ENST00000393905;ENST00000302078	D;D;D	0.83250	-1.7;-1.7;-1.7	5.59	5.59	0.84812	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.94218	0.8144	H	0.96916	3.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.96059	0.9037	10	0.87932	D	0	-22.8638	15.7654	0.78123	1.0:0.0:0.0:0.0	.	461;470	O43660-2;O43660	.;PLRG1_HUMAN	S	470;470;461	ENSP00000424417:F470S;ENSP00000377483:F470S;ENSP00000303191:F461S	ENSP00000303191:F461S	F	-	2	0	PLRG1	155677964	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.127000	0.65507	0.477000	0.44152	TTT		PASS	0.423	PLRG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364824.1	NM_002669		10	34	10	34	---	---	---	---
TMEM144	55314	broad.mit.edu	37	4	159140530	159140530	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr4:159140530T>A	ENST00000296529.6	+	6	921	c.401T>A	c.(400-402)cTa>cAa	p.L134Q	TMEM144_ENST00000514558.1_Missense_Mutation_p.L134Q	NM_018342.4	NP_060812.2	Q7Z5S9	TM144_HUMAN	transmembrane protein 144	134						integral component of membrane (GO:0016021)		p.L134Q(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		GGAGCTGGGCTATCAGTAGTA	0.363																																						uc003ipx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(400-402)CTA>CAA		transmembrane protein 144							140.0	140.0	140.0					4																	159140530		2203	4300	6503	SO:0001583	missense	55314					integral to membrane		g.chr4:159140530T>A	AK002017	CCDS3799.1	4q32.1	2008-02-05			ENSG00000164124	ENSG00000164124			25633	protein-coding gene	gene with protein product						12477932	Standard	NM_018342		Approved	FLJ11155	uc003ipx.3	Q7Z5S9	OTTHUMG00000162013	ENST00000296529.6:c.401T>A	4.37:g.159140530T>A	ENSP00000296529:p.Leu134Gln					TMEM144_uc010iqi.2_RNA	p.L134Q	NM_018342	NP_060812	Q7Z5S9	TM144_HUMAN		COAD - Colon adenocarcinoma(41;0.0539)	6	921	+	all_hematologic(180;0.24)	Renal(120;0.0854)	134			Helical; (Potential).		D3DP24|Q49A05|Q9NUT3	Missense_Mutation	SNP	ENST00000296529.6	37	c.401T>A	CCDS3799.1	.	.	.	.	.	.	.	.	.	.	T	15.72	2.916169	0.52546	.	.	ENSG00000164124	ENST00000508243;ENST00000296529;ENST00000504569;ENST00000514558	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	5.77	5.77	0.91146	.	0.069031	0.56097	D	0.000021	T	0.72771	0.3502	M	0.86420	2.815	0.58432	D	0.999999	D	0.89917	1.0	D	0.77557	0.99	T	0.77928	-0.2404	10	0.72032	D	0.01	-18.9057	15.3639	0.74503	0.0:0.0:0.0:1.0	.	134	Q7Z5S9	TM144_HUMAN	Q	134	ENSP00000422297:L134Q;ENSP00000296529:L134Q;ENSP00000422082:L134Q;ENSP00000426211:L134Q	ENSP00000296529:L134Q	L	+	2	0	TMEM144	159359980	0.999000	0.42202	0.595000	0.28798	0.036000	0.12997	6.600000	0.74132	2.326000	0.78906	0.533000	0.62120	CTA		PASS	0.363	TMEM144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365597.1	NM_018342		20	35	20	35	---	---	---	---
ADAMTS16	170690	broad.mit.edu	37	5	5182171	5182171	+	Silent	SNP	A	A	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr5:5182171A>T	ENST00000274181.7	+	4	654	c.516A>T	c.(514-516)cgA>cgT	p.R172R	ADAMTS16_ENST00000511368.1_Silent_p.R172R	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	172					branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R172R(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GCATGATACGAACAGAAGAGG	0.463																																						uc003jdl.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.(514-516)CGA>CGT		ADAM metallopeptidase with thrombospondin type 1							77.0	76.0	76.0					5																	5182171		1868	4111	5979	SO:0001819	synonymous_variant	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5182171A>T	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.516A>T	5.37:g.5182171A>T						ADAMTS16_uc003jdk.1_Silent_p.R172R|ADAMTS16_uc003jdj.1_Silent_p.R172R	p.R172R	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			4	654	+			172					C6G490|Q8IVE2	Silent	SNP	ENST00000274181.7	37	c.516A>T	CCDS43299.1																																																																																				PASS	0.463	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		14	120	14	120	---	---	---	---
DROSHA	29102	broad.mit.edu	37	5	31526873	31526873	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr5:31526873G>T	ENST00000511367.2	-	4	411	c.167C>A	c.(166-168)cCa>cAa	p.P56Q	DROSHA_ENST00000442743.1_Missense_Mutation_p.P56Q|DROSHA_ENST00000513349.1_Missense_Mutation_p.P56Q|DROSHA_ENST00000504361.1_5'UTR|DROSHA_ENST00000344624.3_Missense_Mutation_p.P56Q	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	56	Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)	p.P56Q(1)		breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						AGGGGCACTTGGAGGTTCATA	0.562																																						uc003jhg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(166-168)CCA>CAA		ribonuclease III, nuclear isoform 1							47.0	52.0	50.0					5																	31526873		1968	4144	6112	SO:0001583	missense	29102				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr5:31526873G>T	AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.167C>A	5.37:g.31526873G>T	ENSP00000425979:p.Pro56Gln					RNASEN_uc003jhh.2_Missense_Mutation_p.P56Q|RNASEN_uc003jhi.2_Missense_Mutation_p.P56Q|RNASEN_uc010iui.1_Missense_Mutation_p.P47Q	p.P56Q	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN			4	526	-			56			Pro-rich.		E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	ENST00000511367.2	37	c.167C>A	CCDS47195.1	.	.	.	.	.	.	.	.	.	.	G	8.592	0.884749	0.17540	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188;ENST00000507438	T;T;T;T;T	0.38240	1.69;1.69;1.18;1.18;1.15	5.04	5.04	0.67666	.	0.254888	0.32328	N	0.006259	T	0.14013	0.0339	N	0.02539	-0.55	0.24266	N	0.995264	B;B;B	0.13145	0.007;0.0;0.0	B;B;B	0.10450	0.005;0.0;0.0	T	0.16217	-1.0410	10	0.08179	T	0.78	-7.4316	11.7372	0.51771	0.0:0.0:0.6966:0.3034	.	56;56;56	Q9NRR4-2;E7EMP9;Q9NRR4	.;.;RNC_HUMAN	Q	56;56;56;56;49;49;56	ENSP00000425979:P56Q;ENSP00000339845:P56Q;ENSP00000409335:P56Q;ENSP00000424161:P56Q;ENSP00000430921:P56Q	ENSP00000265075:P49Q	P	-	2	0	DROSHA	31562630	1.000000	0.71417	0.991000	0.47740	0.954000	0.61252	3.510000	0.53393	2.349000	0.79799	0.563000	0.77884	CCA		PASS	0.562	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235		3	14	3	14	---	---	---	---
ADAMTS12	81792	broad.mit.edu	37	5	33534964	33534964	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr5:33534964T>A	ENST00000504830.1	-	23	4915	c.4580A>T	c.(4579-4581)aAc>aTc	p.N1527I	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.N1442I	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1527	TSP type-1 8. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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.N1527I(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						GGCCTGCTGGTTGCATTTTTT	0.463										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.(4579-4581)AAC>ATC		ADAM metallopeptidase with thrombospondin type 1							149.0	140.0	143.0					5																	33534964		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33534964T>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.4580A>T	5.37:g.33534964T>A	ENSP00000422554:p.Asn1527Ile	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.N1442I	p.N1527I	NM_030955	NP_112217	P58397	ATS12_HUMAN			23	4743	-			1527			TSP type-1 8.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.4580A>T	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	T	13.85	2.358706	0.41801	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.54675	0.56;0.56	5.13	2.69	0.31865	.	0.248692	0.45867	D	0.000339	T	0.67277	0.2876	M	0.90082	3.085	0.80722	D	1	P;D	0.53462	0.95;0.96	P;P	0.59424	0.776;0.857	T	0.65463	-0.6162	10	0.19147	T	0.46	.	6.5111	0.22222	0.0:0.2077:0.0:0.7923	.	1442;1527	P58397-3;P58397	.;ATS12_HUMAN	I	1527;1442	ENSP00000422554:N1527I;ENSP00000344847:N1442I	ENSP00000344847:N1442I	N	-	2	0	ADAMTS12	33570721	1.000000	0.71417	0.999000	0.59377	0.933000	0.57130	0.852000	0.27764	0.356000	0.24157	0.460000	0.39030	AAC		PASS	0.463	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		13	90	13	90	---	---	---	---
LMBRD2	92255	broad.mit.edu	37	5	36143415	36143415	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr5:36143415C>A	ENST00000296603.4	-	2	499	c.37G>T	c.(37-39)Gtc>Ttc	p.V13F		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	13						integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.V13F(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGAAAAAAGACAAAAACAATC	0.363																																						uc003jkb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(37-39)GTC>TTC		LMBR1 domain containing 2							119.0	108.0	112.0					5																	36143415		2203	4300	6503	SO:0001583	missense	92255					integral to membrane		g.chr5:36143415C>A		CCDS34145.1	5p13.2	2008-02-05			ENSG00000164187	ENSG00000164187			25287	protein-coding gene	gene with protein product							Standard	NM_001007527		Approved	DKFZp434H2226	uc003jkb.1	Q68DH5	OTTHUMG00000162150	ENST00000296603.4:c.37G>T	5.37:g.36143415C>A	ENSP00000296603:p.Val13Phe						p.V13F	NM_001007527	NP_001007528	Q68DH5	LMBD2_HUMAN	Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		2	452	-	all_lung(31;0.000146)		13			Helical; (Potential).		B3KRB6|Q9NTC7	Missense_Mutation	SNP	ENST00000296603.4	37	c.37G>T	CCDS34145.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.898371	0.91962	.	.	ENSG00000164187	ENST00000296603	T	0.35236	1.32	5.18	5.18	0.71444	LMBR1-like membrane protein (1);	0.000000	0.85682	D	0.000000	T	0.62258	0.2413	M	0.73962	2.25	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.63906	-0.6531	10	0.49607	T	0.09	-8.0504	18.6957	0.91600	0.0:1.0:0.0:0.0	.	13	Q68DH5	LMBD2_HUMAN	F	13	ENSP00000296603:V13F	ENSP00000296603:V13F	V	-	1	0	LMBRD2	36179172	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.169000	0.77578	2.403000	0.81681	0.555000	0.69702	GTC		PASS	0.363	LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367552.1	NM_001007527		12	64	12	64	---	---	---	---
CARD6	84674	broad.mit.edu	37	5	40852859	40852859	+	Silent	SNP	C	C	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr5:40852859C>T	ENST00000254691.5	+	3	1624	c.1425C>T	c.(1423-1425)ctC>ctT	p.L475L	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	475					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)			p.L475L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						ACACACTTCTCAGCCCTGCCC	0.428																																						uc003jmg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)|lung(1)	5						c.(1423-1425)CTC>CTT		caspase recruitment domain family, member 6							77.0	78.0	77.0					5																	40852859		2203	4300	6503	SO:0001819	synonymous_variant	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40852859C>T	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.1425C>T	5.37:g.40852859C>T							p.L475L	NM_032587	NP_115976	Q9BX69	CARD6_HUMAN			3	1500	+			475					Q52LR2	Silent	SNP	ENST00000254691.5	37	c.1425C>T	CCDS3935.1																																																																																				PASS	0.428	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			11	45	11	45	---	---	---	---
PLCXD3	345557	broad.mit.edu	37	5	41382440	41382440	+	Silent	SNP	G	G	T	rs146343766		TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr5:41382440G>T	ENST00000377801.3	-	2	374	c.300C>A	c.(298-300)tcC>tcA	p.S100S	PLCXD3_ENST00000328457.3_Silent_p.S100S			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	100	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)	p.S100S(2)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TGGGCTTGGTGGAAATTCGAA	0.453																																						uc003jmm.1																			2	Substitution - coding silent(2)	p.S100S(1)	lung(1)|skin(1)	skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	6						c.(298-300)TCC>TCA		phosphatidylinositol-specific phospholipase C, X							77.0	81.0	80.0					5																	41382440		2203	4300	6503	SO:0001819	synonymous_variant	345557				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr5:41382440G>T		CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.300C>A	5.37:g.41382440G>T							p.S100S	NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN			2	402	-			100			PI-PLC X-box.		A6NL04	Silent	SNP	ENST00000377801.3	37	c.300C>A	CCDS34150.1																																																																																				PASS	0.453	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367109.1	XM_293875		7	53	7	53	---	---	---	---
NNT	23530	broad.mit.edu	37	5	43650653	43650653	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr5:43650653G>T	ENST00000264663.5	+	12	1902	c.1681G>T	c.(1681-1683)Gct>Tct	p.A561S	NNT_ENST00000512996.2_Missense_Mutation_p.A430S|NNT_ENST00000344920.4_Missense_Mutation_p.A561S	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	561					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)	p.A561S(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					GGGCCTTGCTGCTCTTGCTGC	0.428																																						uc003joe.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1681-1683)GCT>TCT		nicotinamide nucleotide transhydrogenase	NADH(DB00157)						207.0	181.0	189.0					5																	43650653		2203	4300	6503	SO:0001583	missense	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43650653G>T	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.1681G>T	5.37:g.43650653G>T	ENSP00000264663:p.Ala561Ser					NNT_uc003jof.2_Missense_Mutation_p.A561S	p.A561S	NM_012343	NP_036475	Q13423	NNTM_HUMAN			12	1936	+	Lung NSC(6;2.58e-06)		561			Helical; (Potential).		Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	37	c.1681G>T	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.177775	0.38413	.	.	ENSG00000112992	ENST00000542759;ENST00000264663;ENST00000344920;ENST00000512996	T;T;T	0.77750	-1.12;-1.12;-1.12	5.43	1.59	0.23543	NAD(P) transhydrogenase, alpha subunit, C-terminal (1);	0.417899	0.27336	N	0.019830	T	0.77445	0.4131	M	0.71036	2.16	0.20873	N	0.999834	B	0.30211	0.273	B	0.36504	0.226	T	0.70641	-0.4816	10	0.59425	D	0.04	-9.2448	12.7305	0.57195	0.3044:0.0:0.6956:0.0	.	561	Q13423	NNTM_HUMAN	S	76;561;561;430	ENSP00000264663:A561S;ENSP00000343873:A561S;ENSP00000426343:A430S	ENSP00000264663:A561S	A	+	1	0	NNT	43686410	0.999000	0.42202	1.000000	0.80357	0.614000	0.37383	0.537000	0.23144	0.275000	0.22094	-0.813000	0.03139	GCT		PASS	0.428	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		8	42	8	42	---	---	---	---
DMXL1	1657	broad.mit.edu	37	5	118529647	118529647	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr5:118529647C>G	ENST00000311085.8	+	30	7519	c.7439C>G	c.(7438-7440)tCt>tGt	p.S2480C	DMXL1_ENST00000539542.1_Missense_Mutation_p.S2480C	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2480								p.S2480C(1)		breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CAGGAACATTCTAATTCAAAT	0.274																																						uc003ksd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(7438-7440)TCT>TGT		Dmx-like 1							54.0	47.0	49.0					5																	118529647		2201	4298	6499	SO:0001583	missense	1657							g.chr5:118529647C>G	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.7439C>G	5.37:g.118529647C>G	ENSP00000309690:p.Ser2480Cys					DMXL1_uc010jcl.1_Missense_Mutation_p.S2480C	p.S2480C	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	30	7620	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	2480						Missense_Mutation	SNP	ENST00000311085.8	37	c.7439C>G	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.019397	0.75275	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.11604	2.76;2.76	5.16	5.16	0.70880	.	0.278273	0.42172	D	0.000756	T	0.33323	0.0859	M	0.74881	2.28	0.58432	D	0.999993	D;D	0.64830	0.994;0.981	D;P	0.63033	0.91;0.778	T	0.08330	-1.0727	10	0.87932	D	0	-14.6032	18.6356	0.91378	0.0:1.0:0.0:0.0	.	2480;2480	F5H269;Q9Y485	.;DMXL1_HUMAN	C	2480	ENSP00000309690:S2480C;ENSP00000439479:S2480C	ENSP00000309690:S2480C	S	+	2	0	DMXL1	118557546	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.161000	0.64935	2.399000	0.81585	0.557000	0.71058	TCT		PASS	0.274	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		6	17	6	17	---	---	---	---
PHAX	51808	broad.mit.edu	37	5	125960471	125960471	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr5:125960471G>A	ENST00000297540.4	+	5	1815	c.1120G>A	c.(1120-1122)Gaa>Aaa	p.E374K		NM_032177.3	NP_115553.2	Q9H814	PHAX_HUMAN	phosphorylated adaptor for RNA export	374					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|protein transport (GO:0015031)|RNA metabolic process (GO:0016070)|snRNA export from nucleus (GO:0006408)|spliceosomal snRNP assembly (GO:0000387)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA binding (GO:0003723)|toxic substance binding (GO:0015643)	p.E374K(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	8						AGGACATGCAGAAGCCAAGTT	0.408																																						uc003kua.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1120-1122)GAA>AAA		RNA U, small nuclear RNA export adaptor							103.0	104.0	104.0					5																	125960471		2203	4300	6503	SO:0001583	missense	51808				ncRNA metabolic process|protein transport|snRNA export from nucleus|spliceosomal snRNP assembly	Cajal body|cytosol	RNA binding	g.chr5:125960471G>A	AK023255	CCDS4138.1	5q23.2	2011-05-24	2008-10-01	2008-10-01	ENSG00000164902	ENSG00000164902			10241	protein-coding gene	gene with protein product		604924	"""RNA U, small nuclear RNA export adaptor (phosphorylation regulated)"""	RNUXA		10786834	Standard	NM_032177		Approved	FLJ13193	uc003kua.2	Q9H814	OTTHUMG00000163273	ENST00000297540.4:c.1120G>A	5.37:g.125960471G>A	ENSP00000297540:p.Glu374Lys						p.E374K	NM_032177	NP_115553	Q9H814	PHAX_HUMAN			5	1142	+			374					Q9H8W1	Missense_Mutation	SNP	ENST00000297540.4	37	c.1120G>A	CCDS4138.1	.	.	.	.	.	.	.	.	.	.	G	34	5.336380	0.95758	.	.	ENSG00000164902	ENST00000297540	T	0.60171	0.21	5.62	5.62	0.85841	.	0.056196	0.64402	D	0.000002	T	0.67011	0.2848	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.63793	0.918	T	0.67023	-0.5775	10	0.51188	T	0.08	-17.8201	19.6676	0.95898	0.0:0.0:1.0:0.0	.	374	Q9H814	PHAX_HUMAN	K	374	ENSP00000297540:E374K	ENSP00000297540:E374K	E	+	1	0	PHAX	125988370	1.000000	0.71417	0.613000	0.29037	0.910000	0.53928	8.796000	0.91877	2.656000	0.90262	0.563000	0.77884	GAA		PASS	0.408	PHAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250924.1	NM_032177		11	63	11	63	---	---	---	---
CDC23	8697	broad.mit.edu	37	5	137527989	137527989	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr5:137527989G>T	ENST00000394886.2	-	11	1285	c.1255C>A	c.(1255-1257)Ctt>Att	p.L419I		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	419					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of exit from mitosis (GO:0007096)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)	p.L413I(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TAATAATAAAGGCAGTAAAAT	0.438																																						uc003lcl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1255-1257)CTT>ATT		cell division cycle protein 23							77.0	79.0	78.0					5																	137527989		2203	4300	6503	SO:0001583	missense	8697				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity	g.chr5:137527989G>T	AF053977	CCDS4200.2	5q31	2013-01-17	2013-01-17		ENSG00000094880	ENSG00000094880		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1724	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 8"""	603462	"""CDC23 (cell division cycle 23, yeast, homolog)"", ""cell division cycle 23 homolog (S. cerevisiae)"""			9790767	Standard	NM_004661		Approved	APC8, ANAPC8, CUT23	uc003lcl.3	Q9UJX2	OTTHUMG00000129198	ENST00000394886.2:c.1255C>A	5.37:g.137527989G>T	ENSP00000378350:p.Leu419Ile						p.L419I	NM_004661	NP_004652	Q9UJX2	CDC23_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		11	1286	-			419			TPR 7.		A8K6E5|B4E3A2|B7WP05|D3DQB7|O75433|Q53FN2|Q9BS73	Missense_Mutation	SNP	ENST00000394886.2	37	c.1255C>A	CCDS4200.2	.	.	.	.	.	.	.	.	.	.	G	23.2	4.390746	0.82902	.	.	ENSG00000094880	ENST00000394886	T	0.60672	0.17	5.94	5.94	0.96194	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.78375	0.4273	M	0.81802	2.56	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.75442	-0.3316	10	0.37606	T	0.19	-12.3507	20.3736	0.98901	0.0:0.0:1.0:0.0	.	419	Q9UJX2	CDC23_HUMAN	I	419	ENSP00000378350:L419I	ENSP00000378350:L419I	L	-	1	0	CDC23	137555888	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.476000	0.73587	2.820000	0.97059	0.650000	0.86243	CTT		PASS	0.438	CDC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251275.2			4	45	4	45	---	---	---	---
SH3RF2	153769	broad.mit.edu	37	5	145393529	145393529	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr5:145393529G>A	ENST00000511217.1	+	4	1016	c.964G>A	c.(964-966)Gag>Aag	p.E322K	SH3RF2_ENST00000359120.4_Missense_Mutation_p.E322K			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	322					negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)	p.E322K(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCATATGGTAGAGATCAGCAC	0.572																																						uc003lnt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(964-966)GAG>AAG		SH3 domain containing ring finger 2							120.0	117.0	118.0					5																	145393529		2203	4300	6503	SO:0001583	missense	153769						ligase activity|protein phosphatase 1 binding|zinc ion binding	g.chr5:145393529G>A	AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26299	protein-coding gene	gene with protein product	"""heart protein phosphatase 1-binding protein"", ""POSH-eliminating RING protein"""	613377	"""protein phosphatase 1, regulatory subunit 39"""	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.964G>A	5.37:g.145393529G>A	ENSP00000424497:p.Glu322Lys					SH3RF2_uc011dbl.1_Missense_Mutation_p.E322K	p.E322K	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	1202	+			322					A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Missense_Mutation	SNP	ENST00000511217.1	37	c.964G>A	CCDS4280.1	.	.	.	.	.	.	.	.	.	.	G	19.16	3.774282	0.69992	.	.	ENSG00000156463	ENST00000359120;ENST00000511217	T;T	0.09163	3.01;3.01	5.47	5.47	0.80525	.	0.155853	0.44285	D	0.000467	T	0.13500	0.0327	N	0.24115	0.695	0.44711	D	0.997709	D	0.56521	0.976	P	0.49922	0.626	T	0.01280	-1.1397	10	0.51188	T	0.08	-32.1401	16.2099	0.82148	0.0:0.1418:0.8582:0.0	.	322	Q8TEC5	SH3R2_HUMAN	K	322	ENSP00000352028:E322K;ENSP00000424497:E322K	ENSP00000352028:E322K	E	+	1	0	SH3RF2	145373722	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.109000	0.64615	2.727000	0.93392	0.591000	0.81541	GAG		PASS	0.572	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372804.1	NM_152550		21	88	21	88	---	---	---	---
CLK4	57396	broad.mit.edu	37	5	178043908	178043908	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr5:178043908C>G	ENST00000316308.4	-	5	685	c.517G>C	c.(517-519)Gtt>Ctt	p.V173L	RN7SKP70_ENST00000516655.1_RNA|CLK4_ENST00000522749.1_5'UTR	NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	173	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.V173L(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|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)	all cancers(165;0.235)		CACTCTACAACTTTGCCAAAG	0.378																																						uc003mjf.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(517-519)GTT>CTT		CDC-like kinase 4							120.0	110.0	114.0					5																	178043908		2203	4300	6503	SO:0001583	missense	57396					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr5:178043908C>G	AF294429	CCDS4437.1	5q35	2008-05-02			ENSG00000113240	ENSG00000113240		"""CDC-like kinases"""	13659	protein-coding gene	gene with protein product		607969				11170754	Standard	NM_020666		Approved		uc003mjf.1	Q9HAZ1	OTTHUMG00000130893	ENST00000316308.4:c.517G>C	5.37:g.178043908C>G	ENSP00000316948:p.Val173Leu					CLK4_uc003mjg.1_Missense_Mutation_p.V137L|CLK4_uc010jku.1_5'UTR|CLK4_uc003mjh.1_5'UTR|CLK4_uc010jkv.1_RNA|CLK4_uc011dgg.1_Missense_Mutation_p.V173L|CLK4_uc011dgh.1_5'UTR	p.V173L	NM_020666	NP_065717	Q9HAZ1	CLK4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)	5	625	-	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	173			ATP (By similarity).|Protein kinase.			Missense_Mutation	SNP	ENST00000316308.4	37	c.517G>C	CCDS4437.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.773849	0.31411	.	.	ENSG00000113240	ENST00000316308;ENST00000536763	T	0.57907	0.37	5.38	5.38	0.77491	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	0.79958	0.4536	M	0.93150	3.385	0.80722	D	1	D;D;D	0.89917	1.0;0.995;0.995	D;D;D	0.83275	0.996;0.993;0.993	D	0.85305	0.1075	10	0.87932	D	0	.	16.6461	0.85177	0.0:1.0:0.0:0.0	.	173;173;173	B7ZL31;B9EG64;Q9HAZ1	.;.;CLK4_HUMAN	L	173	ENSP00000316948:V173L	ENSP00000316948:V173L	V	-	1	0	CLK4	177976514	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.669000	0.83911	2.529000	0.85273	0.650000	0.86243	GTT		PASS	0.378	CLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253479.2			12	21	12	21	---	---	---	---
CLK4	57396	broad.mit.edu	37	5	178043926	178043926	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr5:178043926C>T	ENST00000316308.4	-	5	667	c.499G>A	c.(499-501)Gaa>Aaa	p.E167K	RN7SKP70_ENST00000516655.1_RNA|CLK4_ENST00000522749.1_5'UTR	NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	167	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.E167K(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|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)	all cancers(165;0.235)		AAGGCTCCTTCACCCAAAGTG	0.388																																						uc003mjf.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(499-501)GAA>AAA		CDC-like kinase 4							113.0	104.0	107.0					5																	178043926		2203	4300	6503	SO:0001583	missense	57396					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr5:178043926C>T	AF294429	CCDS4437.1	5q35	2008-05-02			ENSG00000113240	ENSG00000113240		"""CDC-like kinases"""	13659	protein-coding gene	gene with protein product		607969				11170754	Standard	NM_020666		Approved		uc003mjf.1	Q9HAZ1	OTTHUMG00000130893	ENST00000316308.4:c.499G>A	5.37:g.178043926C>T	ENSP00000316948:p.Glu167Lys					CLK4_uc003mjg.1_Missense_Mutation_p.E131K|CLK4_uc010jku.1_5'UTR|CLK4_uc003mjh.1_5'UTR|CLK4_uc010jkv.1_RNA|CLK4_uc011dgg.1_Missense_Mutation_p.E167K|CLK4_uc011dgh.1_5'UTR	p.E167K	NM_020666	NP_065717	Q9HAZ1	CLK4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)	5	607	-	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	167			ATP (By similarity).|Protein kinase.			Missense_Mutation	SNP	ENST00000316308.4	37	c.499G>A	CCDS4437.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.160827	0.78226	.	.	ENSG00000113240	ENST00000316308;ENST00000536763	T	0.65916	-0.18	5.38	5.38	0.77491	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	0.65933	0.2739	N	0.25201	0.72	0.80722	D	1	D;D;D	0.60160	0.987;0.987;0.987	P;P;P	0.60609	0.859;0.877;0.877	T	0.69899	-0.5020	10	0.66056	D	0.02	.	16.6461	0.85177	0.0:1.0:0.0:0.0	.	167;167;167	B7ZL31;B9EG64;Q9HAZ1	.;.;CLK4_HUMAN	K	167	ENSP00000316948:E167K	ENSP00000316948:E167K	E	-	1	0	CLK4	177976532	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.669000	0.83911	2.529000	0.85273	0.650000	0.86243	GAA		PASS	0.388	CLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253479.2			12	23	12	23	---	---	---	---
HIST1H3B	8358	broad.mit.edu	37	6	26032069	26032069	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr6:26032069C>T	ENST00000244661.2	-	1	219	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	74					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)	p.E74K(5)		breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						TGGGCGATTTCTCGCACCAGG	0.607																																						uc003nfs.1																			5	Substitution - Missense(5)		lung(3)|breast(2)	ovary(2)	2						c.(220-222)GAA>AAA		histone cluster 1, H3b							73.0	78.0	76.0					6																	26032069		2203	4300	6503	SO:0001583	missense	8358				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26032069C>T	X00090	CCDS4573.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000124693	ENSG00000274267		"""Histones / Replication-dependent"""	4776	protein-coding gene	gene with protein product		602819	"""H3 histone family, member L"", ""histone 1, H3b"""	H3FL		6647026, 9119399, 12408966	Standard	NM_003537		Approved	H3/l	uc003nfs.1	P68431	OTTHUMG00000014415	ENST00000244661.2:c.220G>A	6.37:g.26032069C>T	ENSP00000244661:p.Glu74Lys						p.E74K	NM_003537	NP_003528	P68431	H31_HUMAN			1	220	-			74					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000244661.2	37	c.220G>A	CCDS4573.1	.	.	.	.	.	.	.	.	.	.	c	18.00	3.526579	0.64860	.	.	ENSG00000124693	ENST00000244661	T	0.45276	0.9	5.24	5.24	0.73138	.	.	.	.	.	T	0.56470	0.1987	.	.	.	0.48395	D	0.99964	.	.	.	.	.	.	T	0.61232	-0.7104	6	0.87932	D	0	.	18.166	0.89727	0.0:1.0:0.0:0.0	.	.	.	.	K	74	ENSP00000244661:E74K	ENSP00000244661:E74K	E	-	1	0	HIST1H3B	26140048	1.000000	0.71417	1.000000	0.80357	0.163000	0.22366	7.448000	0.80631	2.595000	0.87683	0.561000	0.74099	GAA		PASS	0.607	HIST1H3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040077.1	NM_003537		24	61	24	61	---	---	---	---
BTN3A3	10384	broad.mit.edu	37	6	26452620	26452620	+	Missense_Mutation	SNP	G	G	A	rs144256388		TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr6:26452620G>A	ENST00000244519.2	+	11	1979	c.1736G>A	c.(1735-1737)cGc>cAc	p.R579H	BTN3A3_ENST00000361232.3_Missense_Mutation_p.R530H|BTN3A3_ENST00000339789.4_Missense_Mutation_p.R537H	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	579					T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)		p.R579H(1)		cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						CTACAGGcacgcactgaagca	0.463																																						uc003nhz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1735-1737)CGC>CAC		butyrophilin, subfamily 3, member A3 isoform a		G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	36.0	32.0	33.0		1106,1736,1589	-3.0	0.0	6	dbSNP_134	33	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	BTN3A3	NM_001242803.1,NM_006994.4,NM_197974.2	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	369/375,579/585,530/536	26452620	1,13005	2203	4300	6503	SO:0001583	missense	10384					integral to membrane		g.chr6:26452620G>A	U90548	CCDS4611.1, CCDS4612.1, CCDS4612.2	6p22.1	2014-01-14			ENSG00000111801	ENSG00000111801		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1140	protein-coding gene	gene with protein product		613595				10354554, 9149941	Standard	NM_006994		Approved	BTF3, BTN3.3	uc003nhz.3	O00478	OTTHUMG00000014451	ENST00000244519.2:c.1736G>A	6.37:g.26452620G>A	ENSP00000244519:p.Arg579His					BTN3A3_uc003nia.2_Missense_Mutation_p.R537H|BTN3A3_uc011dkn.1_Missense_Mutation_p.R530H	p.R579H	NM_006994	NP_008925	O00478	BT3A3_HUMAN			11	1916	+			579			Cytoplasmic (Potential).		B4DWI7|E9PCP5	Missense_Mutation	SNP	ENST00000244519.2	37	c.1736G>A	CCDS4611.1	.	.	.	.	.	.	.	.	.	.	G	0.596	-0.831123	0.02713	0.0	1.16E-4	ENSG00000111801	ENST00000244519;ENST00000339789;ENST00000361232	T;T;T	0.39229	1.15;1.09;1.09	1.48	-2.96	0.05547	.	.	.	.	.	T	0.05777	0.0151	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31364	-0.9946	9	0.40728	T	0.16	.	1.5152	0.02504	0.4283:0.0:0.2652:0.3064	.	530;579	E9PCP5;O00478	.;BT3A3_HUMAN	H	579;537;530	ENSP00000244519:R579H;ENSP00000344968:R537H;ENSP00000355238:R530H	ENSP00000244519:R579H	R	+	2	0	BTN3A3	26560599	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-1.866000	0.01647	-0.330000	0.08514	-1.006000	0.02489	CGC		PASS	0.463	BTN3A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040116.2	NM_006994		4	19	4	19	---	---	---	---
RNF8	9025	broad.mit.edu	37	6	37328291	37328291	+	Silent	SNP	C	C	A			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr6:37328291C>A	ENST00000373479.4	+	2	374	c.181C>A	c.(181-183)Cga>Aga	p.R61R	RNF8_ENST00000394443.4_Silent_p.R61R|RNF8_ENST00000469731.1_Silent_p.R61R|RNF8_ENST00000479516.1_3'UTR|RN7SL273P_ENST00000481561.2_RNA	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	61	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|histone exchange (GO:0043486)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A ubiquitination (GO:0033522)|histone H2B ubiquitination (GO:0033523)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|mitotic nuclear division (GO:0007067)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|response to ionizing radiation (GO:0010212)|spermatid development (GO:0007286)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome, telomeric region (GO:0000781)|nucleolus (GO:0005730)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R61R(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						GATGATTTCTCGAAACCACTG	0.418																																						uc003onq.3																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(181-183)CGA>AGA		ring finger protein 8 isoform 1							138.0	129.0	132.0					6																	37328291		2203	4300	6503	SO:0001819	synonymous_variant	9025				cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:37328291C>A	AB012770	CCDS4833.1, CCDS4834.1	6p21.3	2013-01-09	2012-02-23		ENSG00000112130	ENSG00000112130		"""RING-type (C3HC4) zinc fingers"""	10071	protein-coding gene	gene with protein product		611685	"""ring finger protein (C3HC4 type) 8"", ""ring finger protein 8"""			9734811, 9852682	Standard	NM_003958		Approved	KIAA0646	uc003onq.4	O76064	OTTHUMG00000014620	ENST00000373479.4:c.181C>A	6.37:g.37328291C>A						RNF8_uc003onr.3_Silent_p.R61R|RNF8_uc011dtx.1_5'UTR	p.R61R	NM_003958	NP_003949	O76064	RNF8_HUMAN			2	374	+			61			FHA.		A6NN24|A8MYC0|B4DPG0|Q53H16|Q5NKW5	Silent	SNP	ENST00000373479.4	37	c.181C>A	CCDS4834.1																																																																																				PASS	0.418	RNF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040403.2			4	69	4	69	---	---	---	---
GLTSCR1L	23506	broad.mit.edu	37	6	42823596	42823596	+	Silent	SNP	G	G	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr6:42823596G>T	ENST00000314073.5	+	9	2225	c.2049G>T	c.(2047-2049)gtG>gtT	p.V683V	GLTSCR1L_ENST00000394168.1_Silent_p.V683V			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	683								p.V683V(1)									GTCTTTAGGTGGAGAGTCATT	0.358																																						uc003osn.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2047-2049)GTG>GTT		hypothetical protein LOC23506							102.0	110.0	107.0					6																	42823596		2203	4300	6503	SO:0001819	synonymous_variant	23506							g.chr6:42823596G>T	AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"""KIAA0240"""	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.2049G>T	6.37:g.42823596G>T						KIAA0240_uc011duw.1_Silent_p.V683V|KIAA0240_uc003osp.1_Silent_p.V683V	p.V683V	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)		9	2200	+	Colorectal(47;0.196)		683					A1L3W2|Q5TFZ3|Q92514	Silent	SNP	ENST00000314073.5	37	c.2049G>T	CCDS34451.1																																																																																				PASS	0.358	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3	NM_015349		5	190	5	190	---	---	---	---
PHF3	23469	broad.mit.edu	37	6	64395298	64395298	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr6:64395298C>T	ENST00000262043.3	+	4	2015	c.1675C>T	c.(1675-1677)Cag>Tag	p.Q559*	PHF3_ENST00000509330.1_Nonsense_Mutation_p.Q559*|PHF3_ENST00000393387.1_Nonsense_Mutation_p.Q559*			Q92576	PHF3_HUMAN	PHD finger protein 3	559					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.Q559*(1)		breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GCCAAAGATTCAGAGTTGCAA	0.343																																					GBM(135;136 1820 29512 34071 46235)	uc003pep.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|lung(1)|skin(1)	5						c.(1675-1677)CAG>TAG		PHD finger protein 3							53.0	55.0	55.0					6																	64395298		2203	4300	6503	SO:0001587	stop_gained	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64395298C>T	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.1675C>T	6.37:g.64395298C>T	ENSP00000262043:p.Gln559*					PHF3_uc010kaf.1_Nonsense_Mutation_p.Q559*|PHF3_uc003pem.2_Nonsense_Mutation_p.Q512*|PHF3_uc010kag.1_Nonsense_Mutation_p.Q471*|PHF3_uc010kah.1_Nonsense_Mutation_p.Q373*|PHF3_uc003pen.2_Nonsense_Mutation_p.Q471*|PHF3_uc011dxs.1_Intron|PHF3_uc003peo.2_Nonsense_Mutation_p.Q559*	p.Q559*	NM_015153	NP_055968	Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		3	1701	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		559					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Nonsense_Mutation	SNP	ENST00000262043.3	37	c.1675C>T	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	C	31	5.070359	0.93950	.	.	ENSG00000118482	ENST00000506783;ENST00000481385;ENST00000262043;ENST00000494284;ENST00000509330;ENST00000393387	.	.	.	5.76	5.76	0.90799	.	0.260251	0.21147	N	0.079389	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-4.5627	15.645	0.77042	0.1455:0.8545:0.0:0.0	.	.	.	.	X	373;471;559;512;559;559	.	ENSP00000262043:Q559X	Q	+	1	0	PHF3	64453257	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	2.289000	0.43523	2.725000	0.93324	0.591000	0.81541	CAG		PASS	0.343	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			8	38	8	38	---	---	---	---
MED23	9439	broad.mit.edu	37	6	131917168	131917168	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr6:131917168G>T	ENST00000368068.3	-	22	3093	c.2914C>A	c.(2914-2916)Cac>Aac	p.H972N	MED23_ENST00000479213.1_5'UTR|MED23_ENST00000368058.1_Missense_Mutation_p.H978N|MED23_ENST00000354577.4_Missense_Mutation_p.H978N|MED23_ENST00000368060.3_Missense_Mutation_p.H972N|MED23_ENST00000545957.1_Missense_Mutation_p.H613N|MED23_ENST00000403834.3_Missense_Mutation_p.H978N	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	972					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)	p.H978N(1)|p.H972N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		AAAAATCTGTGGATTACTATA	0.408																																						uc003qcs.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(2914-2916)CAC>AAC		mediator complex subunit 23 isoform a							111.0	118.0	116.0					6																	131917168		2203	4300	6503	SO:0001583	missense	9439				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	g.chr6:131917168G>T	AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.2914C>A	6.37:g.131917168G>T	ENSP00000357047:p.His972Asn					MED23_uc003qcq.2_Missense_Mutation_p.H978N|MED23_uc003qcr.1_5'Flank|MED23_uc011eca.1_Missense_Mutation_p.H613N	p.H972N	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN		GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)	22	3088	-	Breast(56;0.0753)		972					B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Missense_Mutation	SNP	ENST00000368068.3	37	c.2914C>A	CCDS5147.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.892461	0.91889	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000545957	D;D;D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55;-1.55;-1.55	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.89584	0.6757	M	0.67397	2.05	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.89852	0.4010	10	0.72032	D	0.01	-4.691	19.6632	0.95882	0.0:0.0:1.0:0.0	.	613;972;978	B4E3G4;Q9ULK4;Q9ULK4-3	.;MED23_HUMAN;.	N	978;972;978;972;978;613	ENSP00000346588:H978N;ENSP00000357047:H972N;ENSP00000384536:H978N;ENSP00000357039:H972N;ENSP00000357037:H978N;ENSP00000439977:H613N	ENSP00000346588:H978N	H	-	1	0	MED23	131958861	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.625000	0.88918	0.655000	0.94253	CAC		PASS	0.408	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1			5	115	5	115	---	---	---	---
C7orf31	136895	broad.mit.edu	37	7	25176259	25176259	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr7:25176259T>C	ENST00000409280.1	-	10	1413	c.1105A>G	c.(1105-1107)Acc>Gcc	p.T369A	C7orf31_ENST00000283905.3_Missense_Mutation_p.T369A			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	369								p.T369A(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						GGTACAAAGGTATGAAAATTA	0.423																																						uc003sxn.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1105-1107)ACC>GCC		hypothetical protein LOC136895							129.0	127.0	128.0					7																	25176259		2203	4300	6503	SO:0001583	missense	136895							g.chr7:25176259T>C	AK097248	CCDS5394.1	7p15.2	2011-11-24			ENSG00000153790	ENSG00000153790			21722	protein-coding gene	gene with protein product							Standard	NM_138811		Approved		uc003sxn.1	Q8N865	OTTHUMG00000128497	ENST00000409280.1:c.1105A>G	7.37:g.25176259T>C	ENSP00000386604:p.Thr369Ala					C7orf31_uc003sxm.1_Missense_Mutation_p.T211A	p.T369A	NM_138811	NP_620166	Q8N865	CG031_HUMAN			10	1666	-			369					A4D165|Q6MZV8|Q6P989|Q7LE28|Q86XK1|Q8N1H5|Q96BN4	Missense_Mutation	SNP	ENST00000409280.1	37	c.1105A>G	CCDS5394.1	.	.	.	.	.	.	.	.	.	.	T	13.46	2.242466	0.39598	.	.	ENSG00000153790	ENST00000409280;ENST00000283905	T;T	0.05996	3.36;3.36	5.84	3.35	0.38373	.	0.366598	0.28859	N	0.013903	T	0.05914	0.0154	L	0.50333	1.59	0.27633	N	0.947966	B	0.31931	0.347	B	0.30105	0.111	T	0.17501	-1.0367	10	0.33940	T	0.23	-3.5813	5.8564	0.18722	0.1594:0.085:0.0:0.7556	.	369	Q8N865	CG031_HUMAN	A	369	ENSP00000386604:T369A;ENSP00000283905:T369A	ENSP00000283905:T369A	T	-	1	0	C7orf31	25142784	0.653000	0.27358	1.000000	0.80357	0.511000	0.34104	0.597000	0.24059	2.227000	0.72691	0.533000	0.62120	ACC		PASS	0.423	C7orf31-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326929.1	NM_138811		38	54	38	54	---	---	---	---
CCDC129	223075	broad.mit.edu	37	7	31682731	31682731	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr7:31682731C>A	ENST00000407970.3	+	11	1785	c.1747C>A	c.(1747-1749)Cct>Act	p.P583T	CCDC129_ENST00000319386.3_Missense_Mutation_p.P435T|CCDC129_ENST00000451887.2_Missense_Mutation_p.P609T|CCDC129_ENST00000409210.1_Missense_Mutation_p.P491T	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	583								p.P583T(1)|p.P435T(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TTTTGTGAGGCCTGAGGGAGC	0.483																																						uc003tcj.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1747-1749)CCT>ACT		coiled-coil domain containing 129							161.0	163.0	162.0					7																	31682731		2203	4300	6503	SO:0001583	missense	223075							g.chr7:31682731C>A	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.1747C>A	7.37:g.31682731C>A	ENSP00000384416:p.Pro583Thr					CCDC129_uc011kad.1_Missense_Mutation_p.P593T|CCDC129_uc003tci.1_Missense_Mutation_p.P434T|CCDC129_uc011kae.1_Missense_Mutation_p.P609T|CCDC129_uc003tck.1_Missense_Mutation_p.P491T	p.P583T	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN			11	2740	+			583					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.1747C>A	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	C	3.521	-0.097739	0.07010	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T	0.20332	2.08;2.36;2.35;2.09	5.93	2.91	0.33838	.	0.591340	0.16307	N	0.220161	T	0.10809	0.0264	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.12630	0.005;0.006;0.006;0.005	B;B;B;B	0.17098	0.004;0.017;0.017;0.004	T	0.35699	-0.9778	10	0.02654	T	1	-32.4794	9.3237	0.37980	0.2664:0.5875:0.1461:0.0	.	609;593;583;435	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	T	435;583;609;593;491	ENSP00000313062:P435T;ENSP00000384416:P583T;ENSP00000395835:P609T;ENSP00000387214:P491T	ENSP00000313062:P435T	P	+	1	0	CCDC129	31649256	0.000000	0.05858	0.001000	0.08648	0.023000	0.10783	0.458000	0.21892	0.817000	0.34445	-0.230000	0.12252	CCT		PASS	0.483	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		30	215	30	215	---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48315064	48315064	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr7:48315064A>T	ENST00000435803.1	+	17	5825	c.5801A>T	c.(5800-5802)cAa>cTa	p.Q1934L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1934					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.Q1879L(1)|p.Q1934L(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCAATAAATCAAACTAGGGAT	0.358																																						uc003toq.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|central_nervous_system(4)|skin(1)	10						c.(5800-5802)CAA>CTA		ATP binding cassette, sub-family A (ABC1),							115.0	116.0	116.0					7																	48315064		1825	4089	5914	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48315064A>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.5801A>T	7.37:g.48315064A>T	ENSP00000411096:p.Gln1934Leu					ABCA13_uc010kyr.2_Missense_Mutation_p.Q1437L	p.Q1934L	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			17	5826	+			1934					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.5801A>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	A	10.48	1.360699	0.24598	.	.	ENSG00000179869	ENST00000435803	T	0.19250	2.16	5.37	1.25	0.21368	.	0.350509	0.20488	N	0.091347	T	0.31136	0.0787	M	0.64997	1.995	0.09310	N	1	D	0.69078	0.997	P	0.60789	0.879	T	0.07309	-1.0779	9	.	.	.	.	3.8496	0.08949	0.6563:0.1421:0.0792:0.1224	.	1934	Q86UQ4	ABCAD_HUMAN	L	1934	ENSP00000411096:Q1934L	.	Q	+	2	0	ABCA13	48285610	0.005000	0.15991	0.040000	0.18447	0.031000	0.12232	1.864000	0.39469	0.330000	0.23485	0.377000	0.23210	CAA		PASS	0.358	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		26	103	26	103	---	---	---	---
POM121L12	285877	broad.mit.edu	37	7	53104213	53104213	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr7:53104213C>G	ENST00000408890.4	+	1	865	c.849C>G	c.(847-849)ttC>ttG	p.F283L		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	283								p.F283L(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GGGTCTCCTTCGCCCTCGAGG	0.617																																						uc003tpz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(847-849)TTC>TTG		POM121 membrane glycoprotein-like 12							42.0	47.0	46.0					7																	53104213		2000	4177	6177	SO:0001583	missense	285877							g.chr7:53104213C>G		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.849C>G	7.37:g.53104213C>G	ENSP00000386133:p.Phe283Leu						p.F283L	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			1	865	+			283					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.849C>G	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.259887	0.23051	.	.	ENSG00000221900	ENST00000408890	T	0.23754	1.89	2.16	-3.89	0.04193	.	.	.	.	.	T	0.10208	0.0250	N	0.08118	0	0.09310	N	1	B	0.32968	0.392	B	0.31191	0.125	T	0.20538	-1.0272	9	0.87932	D	0	.	4.3099	0.10965	0.0:0.2199:0.3662:0.4139	.	283	Q8N7R1	P1L12_HUMAN	L	283	ENSP00000386133:F283L	ENSP00000386133:F283L	F	+	3	2	POM121L12	53071707	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.611000	0.05622	-1.237000	0.02539	0.561000	0.74099	TTC		PASS	0.617	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		10	22	10	22	---	---	---	---
ADAM22	53616	broad.mit.edu	37	7	87800867	87800867	+	Missense_Mutation	SNP	G	G	A	rs375078730		TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr7:87800867G>A	ENST00000265727.7	+	26	2370	c.2291G>A	c.(2290-2292)cGa>cAa	p.R764Q	ADAM22_ENST00000315984.7_Intron|ADAM22_ENST00000398204.4_Missense_Mutation_p.R764Q|ADAM22_ENST00000398201.4_Missense_Mutation_p.R764Q|ADAM22_ENST00000398209.3_Missense_Mutation_p.R764Q			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	764					adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R764Q(3)		endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			AGAAACTATCGAGAACAGAGG	0.333																																						uc003ujn.2																			3	Substitution - Missense(3)		lung(3)	ovary(4)|skin(2)|lung(1)|kidney(1)	8						c.(2290-2292)CGA>CAA		ADAM metallopeptidase domain 22 isoform 1		G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,3612		0,0,1806	107.0	95.0	99.0		2291,2291,2291,2291,2291	6.1	1.0	7		99	2,8150		0,2,4074	no	missense,missense,missense,missense,missense	ADAM22	NM_004194.3,NM_016351.4,NM_021721.3,NM_021722.4,NM_021723.3	43,43,43,43,43	0,2,5880	AA,AG,GG		0.0245,0.0,0.017	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	764/860,764/871,764/824,764/900,764/907	87800867	2,11762	1806	4076	5882	SO:0001583	missense	53616				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding	g.chr7:87800867G>A	AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"""ADAM metallopeptidase domain containing"""	201	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"""	603709	"""a disintegrin and metalloproteinase domain 22"""			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.2291G>A	7.37:g.87800867G>A	ENSP00000265727:p.Arg764Gln					ADAM22_uc003ujk.1_Missense_Mutation_p.R764Q|ADAM22_uc003ujl.1_Missense_Mutation_p.R764Q|ADAM22_uc003ujm.2_Missense_Mutation_p.R764Q|ADAM22_uc003ujo.2_Missense_Mutation_p.R764Q|ADAM22_uc003ujp.1_Missense_Mutation_p.R816Q	p.R764Q	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		26	2370	+	Esophageal squamous(14;0.00202)		764			Cytoplasmic (Potential).		O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Missense_Mutation	SNP	ENST00000265727.7	37	c.2291G>A	CCDS47637.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.633415	0.87660	0.0	2.45E-4	ENSG00000008277	ENST00000398204;ENST00000398201;ENST00000265727;ENST00000398209;ENST00000398203;ENST00000426930	T;T;T;T;T;T	0.46063	4.42;4.47;4.46;4.42;4.48;0.88	6.08	6.08	0.98989	.	.	.	.	.	T	0.53174	0.1780	L	0.59436	1.845	0.80722	D	1	P;D;B;P	0.53885	0.602;0.963;0.029;0.771	B;P;B;B	0.50490	0.063;0.642;0.004;0.281	T	0.39057	-0.9632	9	0.33940	T	0.23	.	20.6647	0.99678	0.0:0.0:1.0:0.0	.	816;764;764;764	E9PBH5;Q9P0K1-5;Q9P0K1;Q9P0K1-2	.;.;ADA22_HUMAN;.	Q	764;764;764;764;731;122	ENSP00000381262:R764Q;ENSP00000381260:R764Q;ENSP00000265727:R764Q;ENSP00000381267:R764Q;ENSP00000381261:R731Q;ENSP00000396233:R122Q	ENSP00000265727:R764Q	R	+	2	0	ADAM22	87638803	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.778000	0.75043	2.890000	0.99128	0.655000	0.94253	CGA		PASS	0.333	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2	NM_021723		7	42	7	42	---	---	---	---
NRCAM	4897	broad.mit.edu	37	7	107824715	107824715	+	Silent	SNP	T	T	C			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr7:107824715T>C	ENST00000425651.2	-	19	2273	c.2274A>G	c.(2272-2274)tcA>tcG	p.S758S	NRCAM_ENST00000379022.4_Silent_p.S758S|NRCAM_ENST00000379028.3_Silent_p.S758S|NRCAM_ENST00000379024.4_Silent_p.S739S|NRCAM_ENST00000351718.4_Silent_p.S742S|NRCAM_ENST00000413765.2_Silent_p.S739S	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	758	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)	p.S742S(1)|p.S758S(1)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TATCAGGCTCTGATCCCAGTC	0.388																																						uc003vfb.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|breast(2)	5						c.(2272-2274)TCA>TCG		neuronal cell adhesion molecule isoform A							87.0	74.0	79.0					7																	107824715		2203	4300	6503	SO:0001819	synonymous_variant	4897				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	g.chr7:107824715T>C		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.2274A>G	7.37:g.107824715T>C						NRCAM_uc003vfc.2_Silent_p.S742S|NRCAM_uc011kmk.1_Silent_p.S753S|NRCAM_uc003vfd.2_Silent_p.S734S|NRCAM_uc003vfe.2_Silent_p.S734S	p.S758S	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN			22	2745	-			758			Fibronectin type-III 2.|Extracellular (Potential).		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Silent	SNP	ENST00000425651.2	37	c.2274A>G	CCDS47686.1																																																																																				PASS	0.388	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		4	32	4	32	---	---	---	---
CFTR	1080	broad.mit.edu	37	7	117180378	117180378	+	Missense_Mutation	SNP	T	T	C	rs76727851		TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr7:117180378T>C	ENST00000003084.6	+	8	1226	c.1094T>C	c.(1093-1095)cTt>cCt	p.L365P	CFTR_ENST00000454343.1_Missense_Mutation_p.L365P	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	365	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)	p.L365P(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	TATGACTCTCTTGGAGCAATA	0.383									Cystic Fibrosis																													uc003vjd.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|skin(2)|ovary(1)	5	GRCh37	CM003244	CFTR	M	rs76727851	c.(1093-1095)CTT>CCT		cystic fibrosis transmembrane conductance	Bumetanide(DB00887)|Glibenclamide(DB01016)						93.0	90.0	91.0					7																	117180378		2203	4300	6503	SO:0001583	missense	1080	Cystic_Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	g.chr7:117180378T>C	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.1094T>C	7.37:g.117180378T>C	ENSP00000003084:p.Leu365Pro					CFTR_uc011knq.1_5'UTR	p.L365P	NM_000492	NP_000483	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		8	1226	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		365			Cytoplasmic (Potential).|ABC transmembrane type-1 1.		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	c.1094T>C	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	T	19.35	3.810228	0.70797	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.93366	-3.16;-2.93;-3.21	5.26	4.09	0.47781	ABC transporter, transmembrane domain, type 1 (1);	0.486717	0.22862	N	0.054730	D	0.93910	0.8051	L	0.55990	1.75	0.80722	D	1	P	0.47545	0.897	P	0.54590	0.756	D	0.92670	0.6149	10	0.48119	T	0.1	-5.72	12.5139	0.56021	0.0:0.0:0.1398:0.8602	.	365	P13569	CFTR_HUMAN	P	365;365;335	ENSP00000003084:L365P;ENSP00000403677:L365P;ENSP00000389119:L335P	ENSP00000003084:L365P	L	+	2	0	CFTR	116967614	1.000000	0.71417	0.989000	0.46669	0.981000	0.71138	7.584000	0.82572	0.914000	0.36822	-0.461000	0.05368	CTT		PASS	0.383	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		13	62	13	62	---	---	---	---
CADPS2	93664	broad.mit.edu	37	7	121985692	121985692	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr7:121985692C>G	ENST00000449022.2	-	28	3567	c.3548G>C	c.(3547-3549)cGg>cCg	p.R1183P	CADPS2_ENST00000334010.7_Missense_Mutation_p.R1181P|RP5-1101C3.1_ENST00000602199.1_RNA|RP5-1101C3.1_ENST00000602012.1_RNA|CADPS2_ENST00000313070.7_Missense_Mutation_p.R1142P|RP5-1101C3.1_ENST00000593910.1_RNA|RP5-1101C3.1_ENST00000591140.1_RNA|CADPS2_ENST00000412584.2_Missense_Mutation_p.R1142P|RP5-1101C3.1_ENST00000482375.1_RNA	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	1183					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.R1180P(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TTGGTTTTGCCGAACAAACAT	0.373																																						uc010lkp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(3547-3549)CGG>CCG		Ca2+-dependent activator protein for secretion 2							179.0	170.0	173.0					7																	121985692		1820	4080	5900	SO:0001583	missense	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:121985692C>G		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.3548G>C	7.37:g.121985692C>G	ENSP00000398481:p.Arg1183Pro					CADPS2_uc011knx.1_Missense_Mutation_p.R558P|CADPS2_uc003vkg.3_Missense_Mutation_p.R837P|CADPS2_uc010lkq.2_Missense_Mutation_p.R1142P	p.R1183P	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN			27	3711	-			1183					A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	ENST00000449022.2	37	c.3548G>C	CCDS55158.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.289178|5.289178	0.95517|0.95517	.|.	.|.	ENSG00000081803|ENSG00000081803	ENST00000462699|ENST00000360097;ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022	.|T;T;T;T	.|0.34072	.|1.38;1.38;1.38;1.38	6.08|6.08	6.08|6.08	0.98989|0.98989	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.66954|0.66954	0.2842|0.2842	M|M	0.84326|0.84326	2.69|2.69	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|0.999;1.0;0.999;1.0	.|D;D;D;D	.|0.87578	.|0.997;0.995;0.997;0.998	T|T	0.68674|0.68674	-0.5346|-0.5346	5|10	.|0.87932	.|D	.|0	-16.7106|-16.7106	20.6634|20.6634	0.99662|0.99662	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1187;1142;1183;1137	.|B7ZM57;Q86UW7-2;Q86UW7;Q86UW7-3	.|.;.;CAPS2_HUMAN;.	R|P	377|356;1142;1181;1188;1109;1142;1183	.|ENSP00000325581:R1142P;ENSP00000333940:R1181P;ENSP00000400401:R1142P;ENSP00000398481:R1183P	.|ENSP00000325581:R1142P	G|R	-|-	1|2	0|0	CADPS2|CADPS2	121772928|121772928	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.818000|7.818000	0.86416|0.86416	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	GGC|CGG		PASS	0.373	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		12	81	12	81	---	---	---	---
SLC13A1	6561	broad.mit.edu	37	7	122755644	122755644	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr7:122755644C>T	ENST00000194130.2	-	15	1755	c.1716G>A	c.(1714-1716)tgG>tgA	p.W572*	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	572					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)	p.W572*(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	TGGGTACAATCCAAGTACATA	0.433																																						uc003vkm.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(1714-1716)TGG>TGA		solute carrier family 13 (sodium/sulfate	Succinic acid(DB00139)						216.0	161.0	180.0					7																	122755644		2203	4300	6503	SO:0001587	stop_gained	6561					integral to membrane|plasma membrane	sodium:sulfate symporter activity	g.chr7:122755644C>T		CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"""Solute carriers"""	10916	protein-coding gene	gene with protein product		606193	"""solute carrier family 13 (sodium/sulphate symporters), member 1"""			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.1716G>A	7.37:g.122755644C>T	ENSP00000194130:p.Trp572*					SLC13A1_uc010lks.2_Nonsense_Mutation_p.W448*	p.W572*	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN			15	1741	-			572			Helical; (Potential).		Q9H5Z0	Nonsense_Mutation	SNP	ENST00000194130.2	37	c.1716G>A	CCDS5786.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.870364	0.72065	.	.	ENSG00000081800	ENST00000194130	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.0709	0.93136	0.0:1.0:0.0:0.0	.	.	.	.	X	572	.	ENSP00000194130:W572X	W	-	3	0	SLC13A1	122542880	1.000000	0.71417	1.000000	0.80357	0.029000	0.11900	7.599000	0.82757	2.744000	0.94065	0.655000	0.94253	TGG		PASS	0.433	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444		15	56	15	56	---	---	---	---
SND1	27044	broad.mit.edu	37	7	127544839	127544839	+	Silent	SNP	A	A	G			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr7:127544839A>G	ENST00000354725.3	+	14	1688	c.1494A>G	c.(1492-1494)gaA>gaG	p.E498E		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	498					gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)	p.E498E(1)		central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						GCAAGAAGGAAGTGCCTATCC	0.458																																						uc003vmi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1492-1494)GAA>GAG		staphylococcal nuclease domain containing 1							169.0	151.0	157.0					7																	127544839		2203	4300	6503	SO:0001819	synonymous_variant	27044				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity	g.chr7:127544839A>G		CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"""Tudor domain containing"""	30646	protein-coding gene	gene with protein product	"""p100 EBNA2 co-activator"", ""Tudor-SN"""	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.1494A>G	7.37:g.127544839A>G						SND1_uc010lle.2_Silent_p.E151E	p.E498E	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN			14	1720	+			498					Q13122|Q96AG0	Silent	SNP	ENST00000354725.3	37	c.1494A>G	CCDS34747.1																																																																																				PASS	0.458	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349148.1	NM_014390		8	65	8	65	---	---	---	---
DENND2A	27147	broad.mit.edu	37	7	140255464	140255464	+	Missense_Mutation	SNP	C	C	A	rs562738531		TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr7:140255464C>A	ENST00000275884.6	-	11	2426	c.2009G>T	c.(2008-2010)cGc>cTc	p.R670L	DENND2A_ENST00000496613.1_Missense_Mutation_p.R670L|DENND2A_ENST00000492720.1_Missense_Mutation_p.R670L|DENND2A_ENST00000537639.1_Missense_Mutation_p.R670L			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	670	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R670L(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GCATCCCAGGCGGCTCACAAT	0.527																																						uc010lnj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(2008-2010)CGC>CTC		DENN/MADD domain containing 2A							122.0	119.0	120.0					7																	140255464		1881	4124	6005	SO:0001583	missense	27147							g.chr7:140255464C>A	AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.2009G>T	7.37:g.140255464C>A	ENSP00000275884:p.Arg670Leu					DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.R670L|DENND2A_uc003vvw.2_Missense_Mutation_p.R670L|DENND2A_uc003vvx.2_Missense_Mutation_p.R670L	p.R670L	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN			10	2154	-	Melanoma(164;0.00956)		670			DENN.		C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation	SNP	ENST00000275884.6	37	c.2009G>T	CCDS43659.1	.	.	.	.	.	.	.	.	.	.	C	35	5.505900	0.96371	.	.	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000469373;ENST00000492720	T;T;T;T;T	0.13538	2.58;2.58;2.58;2.58;2.58	5.91	5.91	0.95273	DENN (3);	0.000000	0.85682	D	0.000000	T	0.46425	0.1392	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;0.982	D;D	0.75020	0.985;0.983	T	0.48399	-0.9039	10	0.72032	D	0.01	-26.1536	20.3052	0.98627	0.0:1.0:0.0:0.0	.	670;670	Q9ULE3-2;Q9ULE3	.;DEN2A_HUMAN	L	670;670;670;17;670	ENSP00000275884:R670L;ENSP00000442245:R670L;ENSP00000419654:R670L;ENSP00000420145:R17L;ENSP00000419464:R670L	ENSP00000275884:R670L	R	-	2	0	DENND2A	139901933	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.143000	0.77348	2.814000	0.96858	0.650000	0.86243	CGC		PASS	0.527	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689		48	79	48	79	---	---	---	---
OR9A2	135924	broad.mit.edu	37	7	142723325	142723325	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr7:142723325C>A	ENST00000350513.2	-	1	957	c.895G>T	c.(895-897)Gat>Tat	p.D299Y		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	299						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D299Y(1)		central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					TTCATCCCATCTCGGAGGGCC	0.428																																						uc003wcc.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(895-897)GAT>TAT		olfactory receptor, family 9, subfamily A,							83.0	90.0	88.0					7																	142723325		2203	4300	6503	SO:0001583	missense	135924				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:142723325C>A		CCDS34767.1	7q34	2014-07-10			ENSG00000179468	ENSG00000179468		"""GPCR / Class A : Olfactory receptors"""	15093	protein-coding gene	gene with protein product							Standard	NM_001001658		Approved		uc003wcc.1	Q8NGT5	OTTHUMG00000158386	ENST00000350513.2:c.895G>T	7.37:g.142723325C>A	ENSP00000316518:p.Asp299Tyr						p.D299Y	NM_001001658	NP_001001658	Q8NGT5	OR9A2_HUMAN			1	895	-	Melanoma(164;0.059)		299			Cytoplasmic (Potential).		B9EH51|Q6IF71|Q8NGD9	Missense_Mutation	SNP	ENST00000350513.2	37	c.895G>T	CCDS34767.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.398031	0.42512	.	.	ENSG00000179468	ENST00000350513	T	0.37584	1.19	4.46	1.53	0.23141	.	0.000000	0.38897	U	0.001536	T	0.34542	0.0901	L	0.37897	1.145	0.09310	N	1	D	0.65815	0.995	P	0.55508	0.777	T	0.14811	-1.0459	10	0.72032	D	0.01	-3.3619	3.3845	0.07266	0.1731:0.5626:0.1678:0.0964	.	299	Q8NGT5	OR9A2_HUMAN	Y	299	ENSP00000316518:D299Y	ENSP00000316518:D299Y	D	-	1	0	OR9A2	142433447	0.100000	0.21855	0.000000	0.03702	0.032000	0.12392	0.207000	0.17395	0.191000	0.20236	0.462000	0.41574	GAT		PASS	0.428	OR9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350862.1			28	51	28	51	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	3257006	3257006	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr8:3257006G>T	ENST00000520002.1	-	17	2870	c.2315C>A	c.(2314-2316)cCt>cAt	p.P772H	CSMD1_ENST00000537824.1_Missense_Mutation_p.P771H|CSMD1_ENST00000602723.1_Missense_Mutation_p.P772H|CSMD1_ENST00000400186.3_Missense_Mutation_p.P772H|CSMD1_ENST00000542608.1_Missense_Mutation_p.P771H|CSMD1_ENST00000602557.1_Missense_Mutation_p.P772H|CSMD1_ENST00000539096.1_Missense_Mutation_p.P771H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	772	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.P771H(1)|p.P500H(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCATCCAGGAGGCAAAATGAC	0.403																																						uc011kwk.1																			2	Substitution - Missense(2)		lung(2)	breast(20)|large_intestine(5)	25						c.(2314-2316)CCT>CAT		CUB and Sushi multiple domains 1 precursor							71.0	70.0	70.0					8																	3257006		1905	4118	6023	SO:0001583	missense	64478					integral to membrane		g.chr8:3257006G>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.2315C>A	8.37:g.3257006G>T	ENSP00000430733:p.Pro772His					CSMD1_uc011kwj.1_Missense_Mutation_p.P164H	p.P772H	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	16	2705	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	772			Extracellular (Potential).|CUB 5.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.2315C>A		.	.	.	.	.	.	.	.	.	.	G	32	5.124894	0.94429	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26	5.24	5.24	0.73138	CUB (5);	0.069805	0.64402	D	0.000014	T	0.34048	0.0884	L	0.31926	0.97	0.58432	D	0.999999	D;D	0.89917	1.0;0.993	D;D	0.91635	0.999;0.934	T	0.05937	-1.0855	10	0.66056	D	0.02	.	19.2021	0.93714	0.0:0.0:1.0:0.0	.	772;772	E5RIG2;Q96PZ7	.;CSMD1_HUMAN	H	772;772;634;771;771;771	ENSP00000383047:P772H;ENSP00000430733:P772H;ENSP00000441462:P771H;ENSP00000446243:P771H;ENSP00000441675:P771H	ENSP00000320445:P634H	P	-	2	0	CSMD1	3244413	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	9.576000	0.98192	2.603000	0.88011	0.467000	0.42956	CCT		PASS	0.403	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		7	39	7	39	---	---	---	---
MSR1	4481	broad.mit.edu	37	8	15978098	15978098	+	Silent	SNP	G	G	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr8:15978098G>T	ENST00000262101.5	-	9	1172	c.1051C>A	c.(1051-1053)Cga>Aga	p.R351R	MSR1_ENST00000355282.2_Intron|MSR1_ENST00000445506.2_Silent_p.R369R|MSR1_ENST00000350896.3_Intron			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	351	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)	p.R351R(1)		haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CCGACCAGTCGAACTTTCGTA	0.453																																						uc003wwz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1051-1053)CGA>AGA		macrophage scavenger receptor 1 isoform type 1							49.0	50.0	50.0					8																	15978098		2203	4300	6503	SO:0001819	synonymous_variant	4481				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	g.chr8:15978098G>T	D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"""CD molecules"""	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.1051C>A	8.37:g.15978098G>T						MSR1_uc010lsu.2_Silent_p.R369R|MSR1_uc003wxa.2_Intron	p.R351R	NM_138715	NP_619729	P21757	MSRE_HUMAN		Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)	9	1249	-			351			SRCR.|Extracellular (Potential).		D3DSP3|O60505|P21759|Q45F10	Silent	SNP	ENST00000262101.5	37	c.1051C>A	CCDS5995.1																																																																																				PASS	0.453	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2			16	26	16	26	---	---	---	---
UNC5D	137970	broad.mit.edu	37	8	35608158	35608158	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr8:35608158C>A	ENST00000404895.2	+	13	2322	c.1994C>A	c.(1993-1995)gCg>gAg	p.A665E	UNC5D_ENST00000420357.1_Missense_Mutation_p.A598E|UNC5D_ENST00000449677.1_Missense_Mutation_p.A241E|UNC5D_ENST00000453357.2_Missense_Mutation_p.A660E|UNC5D_ENST00000416672.1_Missense_Mutation_p.A670E|UNC5D_ENST00000287272.2_Missense_Mutation_p.A596E	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	665					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.A660E(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GACCCCTTTGCGTGTCATGTG	0.488																																						uc003xjr.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6						c.(1993-1995)GCG>GAG		unc-5 homolog D precursor							243.0	204.0	217.0					8																	35608158		2203	4300	6503	SO:0001583	missense	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35608158C>A	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.1994C>A	8.37:g.35608158C>A	ENSP00000385143:p.Ala665Glu					UNC5D_uc003xjs.1_Missense_Mutation_p.A660E|UNC5D_uc003xju.1_Missense_Mutation_p.A241E	p.A665E	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	13	2322	+			665			Cytoplasmic (Potential).		Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.1994C>A	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	C	17.43	3.388053	0.61956	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.51817	0.72;1.14;1.14;0.72;0.69;2.61	5.9	5.9	0.94986	.	0.233781	0.51477	D	0.000094	T	0.41673	0.1169	L	0.37561	1.115	0.47308	D	0.999387	P;P;P	0.37573	0.465;0.6;0.465	B;B;B	0.35470	0.07;0.203;0.1	T	0.14008	-1.0488	10	0.26408	T	0.33	-19.4637	20.2822	0.98520	0.0:1.0:0.0:0.0	.	241;660;665	E9PDS8;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	E	665;598;596;670;660;241	ENSP00000385143:A665E;ENSP00000392739:A598E;ENSP00000287272:A596E;ENSP00000412652:A670E;ENSP00000394303:A660E;ENSP00000397211:A241E	ENSP00000287272:A596E	A	+	2	0	UNC5D	35727700	1.000000	0.71417	0.969000	0.41365	0.857000	0.48899	5.020000	0.64066	2.806000	0.96561	0.655000	0.94253	GCG		PASS	0.488	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			14	57	14	57	---	---	---	---
CHRNA6	8973	broad.mit.edu	37	8	42611507	42611507	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr8:42611507G>T	ENST00000276410.2	-	5	1190	c.835C>A	c.(835-837)Ctg>Atg	p.L279M	CHRNA6_ENST00000530869.1_5'Flank|CHRNA6_ENST00000534622.1_Missense_Mutation_p.L264M	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	279					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|membrane depolarization (GO:0051899)|regulation of dopamine secretion (GO:0014059)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)	p.L279M(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)|Varenicline(DB01273)	AGAGAAAGCAGGACTGAAATA	0.448																																						uc003xpj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(835-837)CTG>ATG		cholinergic receptor, nicotinic, alpha 6							106.0	93.0	97.0					8																	42611507		2203	4300	6503	SO:0001583	missense	8973					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr8:42611507G>T	U62435	CCDS6135.1, CCDS56536.1	8p22	2012-02-11	2012-02-07					"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	15963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 6 (neuronal)"""	606888	"""cholinergic receptor, nicotinic, alpha polypeptide 6"""			8906617	Standard	NM_004198		Approved		uc003xpj.3	Q15825		ENST00000276410.2:c.835C>A	8.37:g.42611507G>T	ENSP00000276410:p.Leu279Met					CHRNA6_uc011lcw.1_Missense_Mutation_p.L264M	p.L279M	NM_004198	NP_004189	Q15825	ACHA6_HUMAN	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		5	881	-	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	279			Helical; (Potential).		B2R8V4|B4DQH1	Missense_Mutation	SNP	ENST00000276410.2	37	c.835C>A	CCDS6135.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.769749	0.69992	.	.	ENSG00000147434	ENST00000276410;ENST00000534622	T;T	0.80738	-1.41;-1.41	5.97	5.1	0.69264	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.92364	0.7577	H	0.95850	3.73	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93847	0.7142	10	0.72032	D	0.01	.	11.9758	0.53091	0.138:0.0:0.862:0.0	.	264;279	B4DQH1;Q15825	.;ACHA6_HUMAN	M	279;264	ENSP00000276410:L279M;ENSP00000433871:L264M	ENSP00000276410:L279M	L	-	1	2	CHRNA6	42730664	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.519000	0.53458	1.533000	0.49186	0.655000	0.94253	CTG		PASS	0.448	CHRNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383156.1			5	89	5	89	---	---	---	---
PRKDC	5591	broad.mit.edu	37	8	48824970	48824970	+	Splice_Site	SNP	C	C	A			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr8:48824970C>A	ENST00000314191.2	-	25	2990	c.2934G>T	c.(2932-2934)caG>caT	p.Q978H	PRKDC_ENST00000338368.3_Splice_Site_p.Q978H|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	978					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.Q978H(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	AAGCCCTTACCTGATCAACAT	0.478								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.2																			2	Substitution - Missense(2)		lung(2)	lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34						c.(2932-2934)CAG>CAT	NHEJ	protein kinase, DNA-activated, catalytic							127.0	130.0	129.0					8																	48824970		1940	4143	6083	SO:0001630	splice_region_variant	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48824970C>A		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.2934+1G>T	8.37:g.48824970C>A						PRKDC_uc003xqj.2_Missense_Mutation_p.Q978H|PRKDC_uc011ldh.1_Missense_Mutation_p.Q978H	p.Q978H	NM_006904	NP_008835	P78527	PRKDC_HUMAN			25	2991	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	978					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.2934G>T		.	.	.	.	.	.	.	.	.	.	C	21.6	4.177437	0.78564	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.65364	-0.15;-0.15	5.94	4.14	0.48551	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.77336	0.4115	.	.	.	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77004	0.989;0.976;0.976	T	0.77480	-0.2572	8	.	.	.	.	12.0608	0.53561	0.0:0.8596:0.0:0.1404	.	978;978;978	P78527-2;E7EUY0;P78527	.;.;PRKDC_HUMAN	H	978	ENSP00000313420:Q978H;ENSP00000345182:Q978H	.	Q	-	3	2	PRKDC	48987523	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	2.947000	0.49058	0.833000	0.34828	0.650000	0.86243	CAG		PASS	0.478	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640	Missense_Mutation	6	166	6	166	---	---	---	---
CHD7	55636	broad.mit.edu	37	8	61735123	61735123	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr8:61735123C>T	ENST00000423902.2	+	12	3498	c.3019C>T	c.(3019-3021)Ctc>Ttc	p.L1007F	CHD7_ENST00000525508.1_Missense_Mutation_p.L1007F|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1007	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.L1007F(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CATTACATTTCTCTATGAGAT	0.388																																						uc003xue.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9						c.(3019-3021)CTC>TTC		chromodomain helicase DNA binding protein 7							128.0	126.0	127.0					8																	61735123		1825	4080	5905	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61735123C>T	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.3019C>T	8.37:g.61735123C>T	ENSP00000392028:p.Leu1007Phe					CHD7_uc003xuf.2_Missense_Mutation_p.L120F	p.L1007F	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		12	3496	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	1007			Helicase ATP-binding.		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.3019C>T	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.856422	0.91355	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000525508	D;D	0.94376	-3.41;-3.41	5.53	5.53	0.82687	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.64402	D	0.000001	D	0.96654	0.8908	M	0.76328	2.33	0.80722	D	1	D;P	0.69078	0.997;0.707	D;D	0.80764	0.994;0.928	D	0.96723	0.9534	10	0.87932	D	0	-14.7056	19.8195	0.96586	0.0:1.0:0.0:0.0	.	1007;1007	Q9P2D1-2;Q9P2D1	.;CHD7_HUMAN	F	1007	ENSP00000392028:L1007F;ENSP00000436027:L1007F	ENSP00000307304:L1007F	L	+	1	0	CHD7	61897677	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.756000	0.94617	0.655000	0.94253	CTC		PASS	0.388	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		30	100	30	100	---	---	---	---
NCOA2	10499	broad.mit.edu	37	8	71078966	71078966	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr8:71078966C>A	ENST00000452400.2	-	7	746	c.565G>T	c.(565-567)Gaa>Taa	p.E189*		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	189					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)	p.E189*(1)	PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			CTCGGAGGTTCGCCAGACCAA	0.428			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																	uc003xyn.1				Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	RUNXBP2		AML	PAX3/NCOA2(4)	1	Substitution - Nonsense(1)		lung(1)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16						c.(565-567)GAA>TAA		nuclear receptor coactivator 2							175.0	170.0	171.0					8																	71078966		1872	4099	5971	SO:0001587	stop_gained	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71078966C>A	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.565G>T	8.37:g.71078966C>A	ENSP00000399968:p.Glu189*						p.E189*	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		7	727	-	Breast(64;0.201)		189					Q14CD2	Nonsense_Mutation	SNP	ENST00000452400.2	37	c.565G>T	CCDS47872.1	.	.	.	.	.	.	.	.	.	.	C	39	7.646772	0.98409	.	.	ENSG00000140396	ENST00000452400	.	.	.	5.97	5.97	0.96955	.	0.050633	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	18.6193	0.91316	0.0:1.0:0.0:0.0	.	.	.	.	X	189	.	ENSP00000399968:E189X	E	-	1	0	NCOA2	71241520	1.000000	0.71417	0.997000	0.53966	0.736000	0.42039	7.471000	0.80985	2.836000	0.97738	0.655000	0.94253	GAA		PASS	0.428	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			33	179	33	179	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77763355	77763355	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr8:77763355A>G	ENST00000521891.2	+	10	4646	c.4198A>G	c.(4198-4200)Aac>Gac	p.N1400D	ZFHX4_ENST00000518282.1_Missense_Mutation_p.N1374D|ZFHX4_ENST00000455469.2_Missense_Mutation_p.N1355D|ZFHX4_ENST00000050961.6_Missense_Mutation_p.N1355D	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1355					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.N1400D(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GTATCGCTGTAACCATTGTAG	0.453										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(4063-4065)AAC>GAC		zinc finger homeodomain 4							87.0	82.0	83.0					8																	77763355		1894	4118	6012	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77763355A>G		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.4198A>G	8.37:g.77763355A>G	ENSP00000430497:p.Asn1400Asp	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.N1400D|ZFHX4_uc003yaw.1_Missense_Mutation_p.N1355D	p.N1355D	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	4450	+			1355			C2H2-type 10.		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.4063A>G	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	A	13.35	2.210935	0.39102	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.27402	1.67;1.67;1.67;1.67	4.65	4.65	0.58169	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.48286	U	0.000184	T	0.39860	0.1094	M	0.73962	2.25	0.39121	D	0.961667	B;B;B	0.33238	0.281;0.403;0.403	B;B;B	0.38803	0.146;0.282;0.282	T	0.43925	-0.9361	10	0.42905	T	0.14	.	14.5713	0.68213	1.0:0.0:0.0:0.0	.	1355;1355;1400	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	D	1400;1400;1355;1355;1374	ENSP00000430497:N1400D;ENSP00000399605:N1355D;ENSP00000050961:N1355D;ENSP00000430848:N1374D	ENSP00000050961:N1355D	N	+	1	0	ZFHX4	77925910	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.066000	0.76734	2.096000	0.63516	0.454000	0.30748	AAC		PASS	0.453	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		9	41	9	41	---	---	---	---
RALYL	138046	broad.mit.edu	37	8	85785583	85785583	+	Silent	SNP	C	C	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr8:85785583C>T	ENST00000521268.1	+	7	1741	c.636C>T	c.(634-636)tcC>tcT	p.S212S	RALYL_ENST00000522455.1_Silent_p.S212S|RALYL_ENST00000521695.1_Silent_p.S212S|RALYL_ENST00000518566.1_Silent_p.S201S|RALYL_ENST00000521376.1_Silent_p.S123S|RALYL_ENST00000517638.1_Silent_p.S225S|RALYL_ENST00000523850.1_Silent_p.S139S	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	212							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S212S(2)		endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						AAATTGACTCCTTGCTAGGGC	0.428																																						uc003ycq.3																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(634-636)TCC>TCT		RALY RNA binding protein-like isoform 2							62.0	59.0	60.0					8																	85785583		1885	4103	5988	SO:0001819	synonymous_variant	138046						identical protein binding|nucleotide binding|RNA binding	g.chr8:85785583C>T		CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"""RNA binding motif (RRM) containing"""	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.636C>T	8.37:g.85785583C>T						RALYL_uc003ycr.3_Silent_p.S212S|RALYL_uc003ycs.3_Silent_p.S212S|RALYL_uc010lzy.2_Silent_p.S201S|RALYL_uc003yct.3_Silent_p.S225S|RALYL_uc003ycu.3_Silent_p.S139S|RALYL_uc003ycv.3_Silent_p.S124S	p.S212S	NM_001100392	NP_001093862	Q86SE5	RALYL_HUMAN			8	1052	+			212			Potential.		B3KTH2|G3V129|Q6ZW87|Q8N1C2	Silent	SNP	ENST00000521268.1	37	c.636C>T	CCDS55253.1																																																																																				PASS	0.428	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379448.1			7	21	7	21	---	---	---	---
SLC7A13	157724	broad.mit.edu	37	8	87235284	87235284	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr8:87235284G>A	ENST00000297524.3	-	2	837	c.734C>T	c.(733-735)gCg>gTg	p.A245V	SLC7A13_ENST00000419776.2_Missense_Mutation_p.A236V|SLC7A13_ENST00000520624.1_5'UTR	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	245						integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)	p.A245V(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						CAGAGGTAACGCAGTAAATAT	0.383																																						uc003ydq.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(733-735)GCG>GTG		solute carrier family 7, (cationic amino acid							155.0	159.0	158.0					8																	87235284		2203	4300	6503	SO:0001583	missense	157724					integral to membrane	amino acid transmembrane transporter activity	g.chr8:87235284G>A	AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"""Solute carriers"""	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.734C>T	8.37:g.87235284G>A	ENSP00000297524:p.Ala245Val					SLC7A13_uc003ydr.1_Missense_Mutation_p.A236V	p.A245V	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN			2	832	-			245			Helical; Name=7; (Potential).		Q05C37|Q08AH9|Q96N84	Missense_Mutation	SNP	ENST00000297524.3	37	c.734C>T	CCDS34917.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.120936	0.37436	.	.	ENSG00000164893	ENST00000297524;ENST00000419776	D;D	0.90788	-2.73;-2.73	4.23	0.152	0.14893	Amino acid permease domain (1);	0.492139	0.18499	N	0.139409	D	0.87273	0.6136	M	0.76170	2.325	0.09310	N	1	P;P	0.45283	0.855;0.473	B;B	0.40477	0.33;0.089	T	0.79487	-0.1783	10	0.56958	D	0.05	.	5.9813	0.19409	0.1803:0.2924:0.5273:0.0	.	236;245	Q8TCU3-2;Q8TCU3	.;S7A13_HUMAN	V	245;236	ENSP00000297524:A245V;ENSP00000410982:A236V	ENSP00000297524:A245V	A	-	2	0	SLC7A13	87304400	0.078000	0.21339	0.002000	0.10522	0.285000	0.27093	0.779000	0.26746	0.078000	0.16900	-0.312000	0.09012	GCG		PASS	0.383	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1	NM_138817		26	110	26	110	---	---	---	---
SLC26A7	115111	broad.mit.edu	37	8	92307881	92307881	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr8:92307881C>T	ENST00000276609.3	+	4	666	c.427C>T	c.(427-429)Caa>Taa	p.Q143*	SLC26A7_ENST00000523719.1_Nonsense_Mutation_p.Q143*|SLC26A7_ENST00000309536.2_Nonsense_Mutation_p.Q143*	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7									p.Q143*(2)		breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			CTTTGAAATGCAAAGGATCCA	0.498																																						uc003yex.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(2)	2						c.(427-429)CAA>TAA		solute carrier family 26, member 7 isoform a							145.0	123.0	131.0					8																	92307881		2203	4300	6503	SO:0001587	stop_gained	115111					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	g.chr8:92307881C>T	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.427C>T	8.37:g.92307881C>T	ENSP00000276609:p.Gln143*					SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Nonsense_Mutation_p.Q143*|SLC26A7_uc003yfa.2_Nonsense_Mutation_p.Q143*	p.Q143*	NM_052832	NP_439897	Q8TE54	S26A7_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00802)		5	705	+			143			Extracellular (Potential).			Nonsense_Mutation	SNP	ENST00000276609.3	37	c.427C>T	CCDS6254.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.375369	0.82682	.	.	ENSG00000147606	ENST00000522862;ENST00000523719;ENST00000276609;ENST00000309536	.	.	.	5.48	4.59	0.56863	.	0.082122	0.51477	D	0.000082	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	15.1588	0.72764	0.0:0.8577:0.1423:0.0	.	.	.	.	X	143	.	ENSP00000276609:Q143X	Q	+	1	0	SLC26A7	92377057	1.000000	0.71417	0.987000	0.45799	0.314000	0.28054	2.319000	0.43788	1.285000	0.44548	0.563000	0.77884	CAA		PASS	0.498	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1			16	45	16	45	---	---	---	---
GLDC	2731	broad.mit.edu	37	9	6540093	6540093	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr9:6540093T>A	ENST00000321612.6	-	22	2773	c.2623A>T	c.(2623-2625)Aat>Tat	p.N875Y	RN7SL25P_ENST00000583862.1_RNA	NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	875					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)	p.N875Y(1)		cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	GCCTCAATATTTGCAGACTTT	0.453																																						uc003zkc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2623-2625)AAT>TAT		glycine dehydrogenase (decarboxylating)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						135.0	118.0	124.0					9																	6540093		2203	4300	6503	SO:0001583	missense	2731				glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding	g.chr9:6540093T>A	D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"""glycine cleavage system protein P"", ""glycine decarboxylase"""	238300	"""glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"""			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.2623A>T	9.37:g.6540093T>A	ENSP00000370737:p.Asn875Tyr						p.N875Y	NM_000170	NP_000161	P23378	GCSP_HUMAN		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	22	2816	-		Acute lymphoblastic leukemia(23;0.161)	875					Q2M2F8	Missense_Mutation	SNP	ENST00000321612.6	37	c.2623A>T	CCDS34987.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.324769	0.81580	.	.	ENSG00000178445	ENST00000321612	D	0.86497	-2.13	5.16	5.16	0.70880	Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.93265	0.7854	M	0.85859	2.78	0.80722	D	1	D	0.64830	0.994	P	0.62813	0.907	D	0.94385	0.7608	10	0.87932	D	0	-21.7462	15.2802	0.73778	0.0:0.0:0.0:1.0	.	875	P23378	GCSP_HUMAN	Y	875	ENSP00000370737:N875Y	ENSP00000370737:N875Y	N	-	1	0	GLDC	6530093	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.878000	0.69682	2.056000	0.61249	0.482000	0.46254	AAT		PASS	0.453	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051674.2	NM_000170		12	59	12	59	---	---	---	---
ACER2	340485	broad.mit.edu	37	9	19424709	19424709	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr9:19424709G>A	ENST00000340967.2	+	3	261	c.235G>A	c.(235-237)Gtc>Atc	p.V79I	ACER2_ENST00000380376.1_Missense_Mutation_p.V30I	NM_001010887.2	NP_001010887.2	Q5QJU3	ACER2_HUMAN	alkaline ceramidase 2	79					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to drug (GO:0035690)|ceramide metabolic process (GO:0006672)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of protein glycosylation in Golgi (GO:0090285)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	ceramidase activity (GO:0017040)|dihydroceramidase activity (GO:0071633)	p.V79I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	13						AATTGGATCCGTCTACTTCCA	0.428																																						uc003zny.1																			1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						c.(235-237)GTC>ATC		alkaline ceramidase 2							259.0	221.0	234.0					9																	19424709		2203	4300	6503	SO:0001583	missense	340485				ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process	integral to Golgi membrane	ceramidase activity	g.chr9:19424709G>A	AK123581	CCDS34992.1	9p21.3	2013-01-25	2008-12-19	2008-12-19	ENSG00000177076	ENSG00000177076	3.5.1.23	"""Alkaline ceramidase"""	23675	protein-coding gene	gene with protein product		613492	"""N-acylsphingosine amidohydrolase 3-like"""	ASAH3L		18945876	Standard	XM_005251447		Approved	FLJ41587	uc003zny.1	Q5QJU3	OTTHUMG00000019644	ENST00000340967.2:c.235G>A	9.37:g.19424709G>A	ENSP00000342609:p.Val79Ile					ACER2_uc003znx.1_RNA|ACER2_uc003znz.1_Missense_Mutation_p.V30I	p.V79I	NM_001010887	NP_001010887	Q5QJU3	ACER2_HUMAN			3	393	+			79			Helical; (Potential).		A2A3R8|Q569G5|Q5VZR7|Q71RD2	Missense_Mutation	SNP	ENST00000340967.2	37	c.235G>A	CCDS34992.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.040834	0.55003	.	.	ENSG00000177076	ENST00000380376;ENST00000340967	T;T	0.42513	0.97;0.97	5.65	5.65	0.86999	.	0.110409	0.64402	D	0.000007	T	0.32941	0.0846	N	0.17723	0.515	0.44995	D	0.998014	P	0.38565	0.637	B	0.38264	0.269	T	0.04752	-1.0929	9	.	.	.	.	19.7205	0.96142	0.0:0.0:1.0:0.0	.	79	Q5QJU3	ACER2_HUMAN	I	30;79	ENSP00000369735:V30I;ENSP00000342609:V79I	.	V	+	1	0	ACER2	19414709	1.000000	0.71417	0.977000	0.42913	0.977000	0.68977	7.581000	0.82535	2.671000	0.90904	0.462000	0.41574	GTC		PASS	0.428	ACER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051864.1	XM_294540		13	53	13	53	---	---	---	---
SLC24A2	25769	broad.mit.edu	37	9	19576937	19576937	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr9:19576937C>A	ENST00000341998.2	-	5	1274	c.1213G>T	c.(1213-1215)Gct>Tct	p.A405S	SLC24A2_ENST00000286344.3_Missense_Mutation_p.A388S	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	405					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)	p.A405S(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		TGGTTGGCAGCCCCATTCTGC	0.537																																						uc003zoa.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1213-1215)GCT>TCT		solute carrier family 24							214.0	169.0	184.0					9																	19576937		2203	4300	6503	SO:0001583	missense	25769				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr9:19576937C>A	AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"""Solute carriers"""	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.1213G>T	9.37:g.19576937C>A	ENSP00000344801:p.Ala405Ser					SLC24A2_uc003zob.1_Missense_Mutation_p.A388S	p.A405S	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN		GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)	5	1275	-			405			Cytoplasmic (Potential).		B7ZLL8|Q9NTN5|Q9NZQ4	Missense_Mutation	SNP	ENST00000341998.2	37	c.1213G>T	CCDS6493.1	.	.	.	.	.	.	.	.	.	.	C	10.10	1.256892	0.22965	.	.	ENSG00000155886	ENST00000341998;ENST00000286344	T;T	0.75589	-0.95;-0.88	5.82	4.74	0.60224	.	0.115233	0.64402	D	0.000017	T	0.65811	0.2727	L	0.47716	1.5	0.47621	D	0.999479	B;B	0.18166	0.026;0.015	B;B	0.19666	0.026;0.019	T	0.59327	-0.7475	9	.	.	.	.	11.5274	0.50588	0.0:0.8659:0.0:0.1341	.	388;405	Q9UI40-2;Q9UI40	.;NCKX2_HUMAN	S	405;388	ENSP00000344801:A405S;ENSP00000286344:A388S	.	A	-	1	0	SLC24A2	19566937	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	3.621000	0.54210	2.755000	0.94549	0.591000	0.81541	GCT		PASS	0.537	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051866.2	NM_020344		11	46	11	46	---	---	---	---
SPATA31E1	286234	broad.mit.edu	37	9	90499950	90499950	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr9:90499950A>T	ENST00000325643.5	+	4	614	c.548A>T	c.(547-549)gAt>gTt	p.D183V		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	183	Pro-rich.				cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.D183V(1)									TGCATGCAAGATCCGTCTCCT	0.627																																						uc004app.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(547-549)GAT>GTT		chromosome 9 open reading frame 79							77.0	80.0	79.0					9																	90499950		2203	4300	6503	SO:0001583	missense	286234					integral to membrane		g.chr9:90499950A>T	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.548A>T	9.37:g.90499950A>T	ENSP00000322640:p.Asp183Val					C9orf79_uc004apo.1_Intron	p.D183V	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN			4	583	+			183			Pro-rich.		B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	c.548A>T	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	.	11.99	1.804461	0.31869	.	.	ENSG00000177992	ENST00000325643	T	0.05855	3.38	2.35	1.21	0.21127	.	0.898653	0.09189	N	0.836249	T	0.12689	0.0308	L	0.57536	1.79	0.09310	N	1	D	0.64830	0.994	P	0.56343	0.796	T	0.22556	-1.0213	10	0.45353	T	0.12	.	3.2097	0.06678	0.7204:0.0:0.2796:0.0	.	183	Q6ZUB1	CI079_HUMAN	V	183	ENSP00000322640:D183V	ENSP00000322640:D183V	D	+	2	0	C9orf79	89689770	0.001000	0.12720	0.004000	0.12327	0.003000	0.03518	0.287000	0.18920	0.354000	0.24105	0.416000	0.27883	GAT		PASS	0.627	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		39	31	39	31	---	---	---	---
SEMA4D	10507	broad.mit.edu	37	9	92006320	92006320	+	Silent	SNP	G	G	A			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr9:92006320G>A	ENST00000450295.1	-	9	1409	c.633C>T	c.(631-633)ttC>ttT	p.F211F	SEMA4D_ENST00000455551.2_Silent_p.F211F|SEMA4D_ENST00000422704.2_Silent_p.F211F|SEMA4D_ENST00000343780.4_Silent_p.F211F|SEMA4D_ENST00000438547.2_Silent_p.F211F|SEMA4D_ENST00000339861.4_Silent_p.F211F|SEMA4D_ENST00000356444.2_Silent_p.F211F|SEMA4D_ENST00000420987.1_Silent_p.F211F			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	211	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)	p.F211F(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						CAGCAAACACGAAACTAGGCT	0.557																																						uc004aqo.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(631-633)TTC>TTT		semaphorin 4D isoform 1							114.0	100.0	105.0					9																	92006320		2203	4300	6503	SO:0001819	synonymous_variant	10507				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding	g.chr9:92006320G>A	U60800	CCDS6685.1, CCDS47991.1	9q22-q31	2013-01-11			ENSG00000187764	ENSG00000187764		"""Semaphorins"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10732	protein-coding gene	gene with protein product	"""M-sema G"""	601866	"""chromosome 9 open reading frame 164"""	SEMAJ, C9orf164		8876214, 8969198	Standard	NM_006378		Approved	CD100, coll-4, FLJ39737	uc004aqo.1	Q92854	OTTHUMG00000020185	ENST00000450295.1:c.633C>T	9.37:g.92006320G>A						SEMA4D_uc011ltm.1_Silent_p.F211F|SEMA4D_uc011ltn.1_RNA|SEMA4D_uc011lto.1_RNA|SEMA4D_uc004aqp.1_Silent_p.F209F	p.F211F	NM_006378	NP_006369	Q92854	SEM4D_HUMAN			11	1205	-			211			Sema.|Extracellular (Potential).		B2RPM6|Q7Z5S4|Q8N8B0	Silent	SNP	ENST00000450295.1	37	c.633C>T	CCDS6685.1																																																																																				PASS	0.557	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342411.1	NM_006378		16	58	16	58	---	---	---	---
KIAA1958	158405	broad.mit.edu	37	9	115337436	115337436	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr9:115337436C>A	ENST00000337530.6	+	2	1372	c.1076C>A	c.(1075-1077)cCc>cAc	p.P359H	KIAA1958_ENST00000374244.3_Missense_Mutation_p.P359H|KIAA1958_ENST00000536272.1_Missense_Mutation_p.P359H	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	359								p.P359H(1)		endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						GCCCTTTCTCCCTCAGTTAAC	0.582																																						uc004bgf.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1075-1077)CCC>CAC		hypothetical protein LOC158405							89.0	88.0	88.0					9																	115337436		2203	4300	6503	SO:0001583	missense	158405							g.chr9:115337436C>A	AB075838	CCDS35108.1, CCDS69642.1	9q33.1	2009-09-22			ENSG00000165185	ENSG00000165185			23427	protein-coding gene	gene with protein product							Standard	NM_001287038		Approved	FLJ39294	uc004bgf.1	Q8N8K9	OTTHUMG00000020508	ENST00000337530.6:c.1076C>A	9.37:g.115337436C>A	ENSP00000336940:p.Pro359His					KIAA1958_uc011lwx.1_Missense_Mutation_p.P359H	p.P359H	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN			2	1251	+			359					B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02	Missense_Mutation	SNP	ENST00000337530.6	37	c.1076C>A	CCDS35108.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.463192	0.63513	.	.	ENSG00000165185	ENST00000337530;ENST00000374244;ENST00000536272	T;T;T	0.47177	0.85;0.85;0.85	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.59169	0.2174	L	0.27053	0.805	0.53005	D	0.999965	D;D	0.89917	1.0;0.999	D;D	0.70716	0.97;0.956	T	0.61826	-0.6983	10	0.87932	D	0	-23.0764	20.1054	0.97890	0.0:1.0:0.0:0.0	.	359;359	B7ZKW6;Q8N8K9	.;K1958_HUMAN	H	359	ENSP00000336940:P359H;ENSP00000363362:P359H;ENSP00000440504:P359H	ENSP00000336940:P359H	P	+	2	0	KIAA1958	114377257	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	3.891000	0.56227	2.757000	0.94681	0.655000	0.94253	CCC		PASS	0.582	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053690.1	NM_133465		5	102	5	102	---	---	---	---
KIF12	113220	broad.mit.edu	37	9	116857503	116857503	+	Silent	SNP	G	G	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr9:116857503G>T	ENST00000374118.3	-	7	828	c.591C>A	c.(589-591)gtC>gtA	p.V197V	KIF12_ENST00000473174.1_5'UTR	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	330	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.V197V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						CCATGAGGGTGACCCCGCGCC	0.647																																						uc004bif.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(589-591)GTC>GTA		kinesin family member 12							69.0	62.0	64.0					9																	116857503		2203	4300	6503	SO:0001819	synonymous_variant	113220				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:116857503G>T	BC010626	CCDS6801.1	9q33.1	2008-02-05			ENSG00000136883	ENSG00000136883		"""Kinesins"""	21495	protein-coding gene	gene with protein product		611278					Standard	NM_138424		Approved		uc004bif.3	Q96FN5	OTTHUMG00000020533	ENST00000374118.3:c.591C>A	9.37:g.116857503G>T						KIF12_uc004big.2_RNA	p.V197V	NM_138424	NP_612433	Q96FN5	KIF12_HUMAN			7	829	-			330					Q5TBE0	Silent	SNP	ENST00000374118.3	37	c.591C>A	CCDS6801.1																																																																																				PASS	0.647	KIF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053751.1	NM_138424		11	51	11	51	---	---	---	---
PHF19	26147	broad.mit.edu	37	9	123629244	123629244	+	Splice_Site	SNP	C	C	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr9:123629244C>T	ENST00000373896.3	-	7	867		c.e7-1		PHF19_ENST00000419155.1_Splice_Site|PHF19_ENST00000487555.1_Splice_Site	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19						chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CAGGTACCATCTGGAGAGACA	0.567																																						uc004bks.1																			1	Unknown(1)		lung(1)	ovary(1)|breast(1)	2						c.e7-1		PHD finger protein 19 isoform a							59.0	51.0	53.0					9																	123629244		2203	4300	6503	SO:0001630	splice_region_variant	26147				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr9:123629244C>T	BX640713	CCDS35116.1, CCDS35117.1, CCDS69648.1, CCDS75889.1	9q34.11	2013-01-28			ENSG00000119403	ENSG00000119403		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24566	protein-coding gene	gene with protein product	"""polycomb-like 3"", ""tudor domain containing 19B"""	609740				15563832	Standard	XM_005251906		Approved	DKFZP727G051, PCL3, MTF2L1, TDRD19B	uc004bks.1	Q5T6S3	OTTHUMG00000020577	ENST00000373896.3:c.615-1G>A	9.37:g.123629244C>T						PHF19_uc011lyf.1_Splice_Site|PHF19_uc004bkr.2_Splice_Site	p.E205_splice	NM_015651	NP_056466	Q5T6S3	PHF19_HUMAN			7	868	-								Q32NF2|Q5T6S4|Q6N038|Q8TBL6|Q9UFS9	Splice_Site	SNP	ENST00000373896.3	37	c.615_splice	CCDS35116.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.051067	0.75960	.	.	ENSG00000119403	ENST00000544082;ENST00000373896	.	.	.	5.24	4.32	0.51571	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0389	0.64663	0.152:0.848:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PHF19	122669065	1.000000	0.71417	0.954000	0.39281	0.963000	0.63663	7.578000	0.82498	1.156000	0.42514	0.563000	0.77884	.		PASS	0.567	PHF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053838.3	XM_045308	Intron	12	25	12	25	---	---	---	---
DBH	1621	broad.mit.edu	37	9	136508547	136508547	+	Missense_Mutation	SNP	G	G	A	rs527742213		TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr9:136508547G>A	ENST00000393056.2	+	4	769	c.757G>A	c.(757-759)Gtc>Atc	p.V253I		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	253					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)	p.V253I(1)		central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	CGAGCCCATCGTCACCAAGGG	0.667													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14071	0.0		0.0	False		,,,				2504	0.0					uc004cel.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(757-759)GTC>ATC		dopamine beta hydroxylase precursor	Dopamine(DB00988)|Vitamin C(DB00126)						68.0	64.0	65.0					9																	136508547		2203	4300	6503	SO:0001583	missense	1621				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding	g.chr9:136508547G>A	X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.757G>A	9.37:g.136508547G>A	ENSP00000376776:p.Val253Ile						p.V253I	NM_000787	NP_000778	P09172	DOPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	4	766	+			253			Intragranular (Potential).		Q5T381|Q96AG2	Missense_Mutation	SNP	ENST00000393056.2	37	c.757G>A	CCDS6977.2	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.687257	0.00738	.	.	ENSG00000123454	ENST00000393056;ENST00000371880;ENST00000263611	T;T	0.28454	1.61;1.61	5.13	-4.21	0.03812	Copper type II, ascorbate-dependent monooxygenase, N-terminal (2);PHM/PNGase F domain (1);	0.203806	0.49305	N	0.000153	T	0.07773	0.0195	N	0.02674	-0.535	0.27854	N	0.940658	B	0.09022	0.002	B	0.15052	0.012	T	0.35895	-0.9770	10	0.02654	T	1	-2.231	8.747	0.34591	0.6208:0.1101:0.2691:0.0	.	253	P09172	DOPO_HUMAN	I	253;190;190	ENSP00000376776:V253I;ENSP00000263611:V190I	ENSP00000263611:V190I	V	+	1	0	DBH	135498368	0.996000	0.38824	0.115000	0.21578	0.012000	0.07955	0.803000	0.27083	-0.670000	0.05282	-1.133000	0.01973	GTC		PASS	0.667	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787		15	34	15	34	---	---	---	---
UPF2	26019	broad.mit.edu	37	10	11997500	11997500	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr10:11997500G>C	ENST00000356352.2	-	13	3054	c.2581C>G	c.(2581-2583)Caa>Gaa	p.Q861E	UPF2_ENST00000357604.5_Missense_Mutation_p.Q861E|UPF2_ENST00000397053.2_Missense_Mutation_p.Q861E			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	861	MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF3A and UPF3B.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)	p.Q861E(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				AATTTAGGTTGATTAACCTAA	0.343																																						uc001ila.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(2581-2583)CAA>GAA		UPF2 regulator of nonsense transcripts homolog							47.0	47.0	47.0					10																	11997500		2203	4300	6503	SO:0001583	missense	26019				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding	g.chr10:11997500G>C	AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.2581C>G	10.37:g.11997500G>C	ENSP00000348708:p.Gln861Glu					UPF2_uc001ilb.2_Missense_Mutation_p.Q861E|UPF2_uc001ilc.2_Missense_Mutation_p.Q861E|UPF2_uc009xiz.1_Missense_Mutation_p.Q861E	p.Q861E	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN			13	3055	-		Renal(717;0.228)	861			Sufficient for interaction with UPF3A and UPF3B.|MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.		A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	ENST00000356352.2	37	c.2581C>G	CCDS7086.1	.	.	.	.	.	.	.	.	.	.	G	7.818	0.717079	0.15372	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000397053	T;T;T	0.19250	2.16;2.16;2.16	5.17	5.17	0.71159	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.063690	0.64402	D	0.000005	T	0.10895	0.0266	N	0.03154	-0.405	0.80722	D	1	B	0.18166	0.026	B	0.21917	0.037	T	0.16600	-1.0397	10	0.09338	T	0.73	.	18.6445	0.91406	0.0:0.0:1.0:0.0	.	861	Q9HAU5	RENT2_HUMAN	E	861	ENSP00000348708:Q861E;ENSP00000350221:Q861E;ENSP00000380244:Q861E	ENSP00000348708:Q861E	Q	-	1	0	UPF2	12037506	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.476000	0.97823	2.413000	0.81919	0.591000	0.81541	CAA		PASS	0.343	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1			19	26	19	26	---	---	---	---
C1QL3	389941	broad.mit.edu	37	10	16562655	16562655	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr10:16562655T>A	ENST00000298943.3	-	1	1349	c.410A>T	c.(409-411)cAt>cTt	p.H137L		NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN	complement component 1, q subcomponent-like 3	137	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				regulation of synapse organization (GO:0050807)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)		p.H137L(1)		breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						GTAGCCTTCATGCTGCCGCTT	0.677																																						uc001ioj.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(409-411)CAT>CTT		complement component 1, q subcomponent-like 3							134.0	111.0	119.0					10																	16562655		2203	4300	6503	SO:0001583	missense	389941					collagen		g.chr10:16562655T>A		CCDS31156.1	10p13	2012-03-26			ENSG00000165985	ENSG00000165985			19359	protein-coding gene	gene with protein product		615227				21378161	Standard	NM_001010908		Approved	K100, C1ql, C1QTNF13, CTRP13	uc001ioj.1	Q5VWW1	OTTHUMG00000017738	ENST00000298943.3:c.410A>T	10.37:g.16562655T>A	ENSP00000298943:p.His137Leu						p.H137L	NM_001010908	NP_001010908	Q5VWW1	C1QL3_HUMAN			1	1350	-			137			C1q.		A0PJY4|A0PJY5	Missense_Mutation	SNP	ENST00000298943.3	37	c.410A>T	CCDS31156.1	.	.	.	.	.	.	.	.	.	.	T	9.221	1.033486	0.19590	.	.	ENSG00000165985	ENST00000298943;ENST00000448557	T	0.19938	2.11	3.56	3.56	0.40772	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.176584	0.48767	D	0.000161	T	0.11452	0.0279	N	0.11651	0.15	0.58432	D	0.999999	B	0.27594	0.182	B	0.32533	0.147	T	0.12578	-1.0542	10	0.11485	T	0.65	.	12.2503	0.54595	0.0:0.0:0.0:1.0	.	137	Q5VWW1	C1QL3_HUMAN	L	137;114	ENSP00000298943:H137L	ENSP00000298943:H137L	H	-	2	0	C1QL3	16602661	1.000000	0.71417	1.000000	0.80357	0.452000	0.32318	6.030000	0.70903	1.621000	0.50320	0.519000	0.50382	CAT		PASS	0.677	C1QL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047003.1	XM_372305		6	44	6	44	---	---	---	---
MRC1	4360	broad.mit.edu	37	10	18112280	18112280	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr10:18112280T>C	ENST00000239761.3	+	2	401	c.298T>C	c.(298-300)Tgg>Cgg	p.W100R		NM_002438.2	NP_002429.1	P22897	MRC1_HUMAN	mannose receptor, C type 1	100	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				receptor-mediated endocytosis (GO:0006898)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	mannose binding (GO:0005537)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.W100R(1)		breast(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	6						ATTTCAGAAATGGGAGTGCAA	0.378																																					GBM(115;1153 1594 28187 28781 35884)	uc001ipm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(298-300)TGG>CGG		mannose receptor C type 1 precursor							40.0	43.0	42.0					10																	18112280		1219	2536	3755	SO:0001583	missense	4360				receptor-mediated endocytosis	endosome membrane|integral to plasma membrane	mannose binding|receptor activity	g.chr10:18112280T>C	J05550	CCDS7123.1, CCDS7123.2	10p13	2014-04-10			ENSG00000120586	ENSG00000260314		"""CD molecules"", ""C-type lectin domain containing"""	7228	protein-coding gene	gene with protein product		153618	"""mannose receptor, C type 1-like 1"""	MRC1L1		1294118	Standard	NM_002438		Approved	CLEC13D, CD206, bA541I19.1, CLEC13DL	uc031ptj.1	P22897	OTTHUMG00000174646	ENST00000239761.3:c.298T>C	10.37:g.18112280T>C	ENSP00000239761:p.Trp100Arg						p.W100R	NM_002438	NP_002429	P22897	MRC1_HUMAN			2	401	+			100			Extracellular (Potential).|Ricin B-type lectin.		A5PKW3|Q5VSJ2|Q5VSK2	Missense_Mutation	SNP	ENST00000239761.3	37	c.298T>C	CCDS7123.1	.	.	.	.	.	.	.	.	.	.	T	17.11	3.304847	0.60305	.	.	ENSG00000120586	ENST00000239761	T	0.74737	-0.87	4.13	4.13	0.48395	Ricin B-related lectin (1);Ricin B lectin (3);	0.000000	0.49305	D	0.000149	T	0.81912	0.4923	L	0.52011	1.625	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.83916	0.0298	10	0.87932	D	0	-3.9293	13.403	0.60893	0.0:0.0:0.0:1.0	.	100	P22897	MRC1_HUMAN	R	100	ENSP00000239761:W100R	ENSP00000239761:W100R	W	+	1	0	MRC1	18152286	1.000000	0.71417	0.992000	0.48379	0.777000	0.43975	7.277000	0.78572	1.630000	0.50440	0.358000	0.22013	TGG		PASS	0.378	MRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047057.1	NM_002438		47	34	47	34	---	---	---	---
SEC23IP	11196	broad.mit.edu	37	10	121663646	121663646	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr10:121663646G>T	ENST00000369075.3	+	4	1030	c.958G>T	c.(958-960)Gat>Tat	p.D320Y	SEC23IP_ENST00000543134.1_Missense_Mutation_p.D109Y	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	320	Interaction with SEC23A.				acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.D320Y(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		AGGGCGCTACGATGTTTACCT	0.493																																						uc001leu.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(958-960)GAT>TAT		Sec23-interacting protein p125							111.0	103.0	106.0					10																	121663646		2203	4300	6503	SO:0001583	missense	11196				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding	g.chr10:121663646G>T	AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"""Sterile alpha motif (SAM) domain containing"""	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.958G>T	10.37:g.121663646G>T	ENSP00000358071:p.Asp320Tyr					SEC23IP_uc010qtc.1_Missense_Mutation_p.D109Y	p.D320Y	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN		all cancers(201;0.00515)	4	1030	+		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)	320			Interaction with SEC23A.		D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	ENST00000369075.3	37	c.958G>T	CCDS7618.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.4|25.4	4.638377|4.638377	0.87760|0.87760	.|.	.|.	ENSG00000107651|ENSG00000107651	ENST00000369075;ENST00000543134;ENST00000446561|ENST00000442952	T;T;T|.	0.35236|.	1.32;1.32;1.32|.	5.33|5.33	5.33|5.33	0.75918|0.75918	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85349|0.85349	0.5676|0.5676	M|M	0.89715|0.89715	3.055|3.055	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.87521|0.87521	0.2446|0.2446	10|5	0.87932|.	D|.	0|.	-24.8915|-24.8915	19.3947|19.3947	0.94603|0.94603	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	109;320|.	F5H0L8;Q9Y6Y8|.	.;S23IP_HUMAN|.	Y|L	320;109;54|85	ENSP00000358071:D320Y;ENSP00000438773:D109Y;ENSP00000396906:D54Y|.	ENSP00000358071:D320Y|.	D|R	+|+	1|2	0|0	SEC23IP|SEC23IP	121653636|121653636	1.000000|1.000000	0.71417|0.71417	0.438000|0.438000	0.26821|0.26821	0.787000|0.787000	0.44495|0.44495	9.282000|9.282000	0.95840|0.95840	2.644000|2.644000	0.89710|0.89710	0.563000|0.563000	0.77884|0.77884	GAT|CGA		PASS	0.493	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1			3	42	3	42	---	---	---	---
ART1	417	broad.mit.edu	37	11	3680845	3680845	+	Silent	SNP	C	C	G			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr11:3680845C>G	ENST00000250693.1	+	3	197	c.96C>G	c.(94-96)ctC>ctG	p.L32L		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	32					innate immune response (GO:0045087)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.L32L(1)		endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)		GACGAGACCTCTTCTCTCAAG	0.602																																						uc001lye.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(94-96)CTC>CTG		ADP-ribosyltransferase 1 precursor	Becaplermin(DB00102)						56.0	56.0	56.0					11																	3680845		2201	4298	6499	SO:0001819	synonymous_variant	417				protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity	g.chr11:3680845C>G	S74683	CCDS7744.1	11p15	2006-02-23			ENSG00000129744	ENSG00000129744		"""CD molecules"""	723	protein-coding gene	gene with protein product		601625				8812442	Standard	NM_004314		Approved	ART2, CD296	uc001lye.1	P52961	OTTHUMG00000011845	ENST00000250693.1:c.96C>G	11.37:g.3680845C>G						ART1_uc009yeb.1_Silent_p.L32L	p.L32L	NM_004314	NP_004305	P52961	NAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	3	197	+		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	32					Q6NTD2|Q96KT9	Silent	SNP	ENST00000250693.1	37	c.96C>G	CCDS7744.1																																																																																				PASS	0.602	ART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032765.1	NM_004314		4	42	4	42	---	---	---	---
OR52R1	119695	broad.mit.edu	37	11	4825066	4825066	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr11:4825066C>A	ENST00000356069.2	-	1	544	c.545G>T	c.(544-546)tGt>tTt	p.C182F	OR52R1_ENST00000380382.1_Missense_Mutation_p.C261F|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005177.3	NP_001005177.3	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C181F(1)|p.C261F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATGTGCTCACAGTATGACTG	0.527																																						uc010qym.1																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(781-783)TGT>TTT		olfactory receptor, family 52, subfamily R,							164.0	127.0	139.0					11																	4825066		2201	4298	6499	SO:0001583	missense	119695				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4825066C>A	BK004282	CCDS31360.1, CCDS31360.2	11p15.4	2012-08-09			ENSG00000176937	ENSG00000176937		"""GPCR / Class A : Olfactory receptors"""	15235	protein-coding gene	gene with protein product							Standard	NM_001005177		Approved		uc021qcs.1	Q8NGF1	OTTHUMG00000066510	ENST00000356069.2:c.545G>T	11.37:g.4825066C>A	ENSP00000348368:p.Cys182Phe						p.C261F	NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	782	-		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)	182			Extracellular (Potential).		Q6IFI0	Missense_Mutation	SNP	ENST00000356069.2	37	c.782G>T	CCDS31360.2	.	.	.	.	.	.	.	.	.	.	C	21.6	4.180405	0.78677	.	.	ENSG00000176937	ENST00000356069;ENST00000380382	T;T	0.62639	0.01;0.01	5.35	5.35	0.76521	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000047	D	0.87330	0.6150	H	0.97783	4.075	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.91608	0.5300	10	0.87932	D	0	.	17.8083	0.88608	0.0:1.0:0.0:0.0	.	182	Q8NGF1	O52R1_HUMAN	F	182;261	ENSP00000348368:C182F;ENSP00000369742:C261F	ENSP00000348368:C182F	C	-	2	0	OR52R1	4781642	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.414000	0.80117	2.789000	0.95967	0.650000	0.86243	TGT		PASS	0.527	OR52R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142183.1	NM_001005177		14	75	14	75	---	---	---	---
TRIM3	10612	broad.mit.edu	37	11	6471848	6471848	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr11:6471848G>A	ENST00000525074.1	-	10	2268	c.1874C>T	c.(1873-1875)cCc>cTc	p.P625L	TRIM3_ENST00000536344.1_Missense_Mutation_p.P506L|TRIM3_ENST00000359518.3_Missense_Mutation_p.P625L|TRIM3_ENST00000537602.1_Missense_Mutation_p.P547L|TRIM3_ENST00000345851.3_Missense_Mutation_p.P625L	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	625					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P625L(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACAAAATGGGGCCCTGAAAA	0.483																																					Melanoma(6;5 510 1540 25169 29084)	uc001mdh.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|large_intestine(1)|ovary(1)|skin(1)	5						c.(1873-1875)CCC>CTC		tripartite motif-containing 3							81.0	73.0	76.0					11																	6471848		2201	4296	6497	SO:0001583	missense	10612				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	g.chr11:6471848G>A	AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10064	protein-coding gene	gene with protein product	"""ring finger protein 22"", ""brain expressed ring finger"", ""tripartite motif protein TRIM3"""	605493	"""tripartite motif-containing 3"""	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.1874C>T	11.37:g.6471848G>A	ENSP00000433102:p.Pro625Leu					TRIM3_uc001mdi.2_Missense_Mutation_p.P625L|TRIM3_uc010raj.1_Missense_Mutation_p.P506L|TRIM3_uc009yfd.2_Missense_Mutation_p.P625L|TRIM3_uc010rak.1_Missense_Mutation_p.P625L	p.P625L	NM_006458	NP_006449	O75382	TRIM3_HUMAN		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)	11	2261	-		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	625			NHL 4.		B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Missense_Mutation	SNP	ENST00000525074.1	37	c.1874C>T	CCDS7764.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.600420	0.87055	.	.	ENSG00000110171	ENST00000530899;ENST00000525074;ENST00000545029;ENST00000345851;ENST00000336043;ENST00000537602;ENST00000359518;ENST00000536344	D;D;D;D;D	0.94092	-3.35;-3.35;-3.35;-3.35;-3.35	4.95	4.95	0.65309	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.97009	0.9023	M	0.87381	2.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97404	0.9998	10	0.62326	D	0.03	-20.7158	16.9279	0.86181	0.0:0.0:1.0:0.0	.	506;625	F5H2Q8;O75382	.;TRIM3_HUMAN	L	625;625;625;625;614;547;625;506	ENSP00000433102:P625L;ENSP00000340797:P625L;ENSP00000441091:P547L;ENSP00000352508:P625L;ENSP00000445460:P506L	ENSP00000337094:P614L	P	-	2	0	TRIM3	6428424	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.263000	0.95617	2.561000	0.86390	0.563000	0.77884	CCC		PASS	0.483	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	NM_006458		21	23	21	23	---	---	---	---
WEE1	7465	broad.mit.edu	37	11	9608356	9608356	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr11:9608356A>T	ENST00000450114.2	+	10	1993	c.1740A>T	c.(1738-1740)ttA>ttT	p.L580F	WEE1_ENST00000299613.6_Missense_Mutation_p.L366F	NM_003390.3	NP_003381.1	P30291	WEE1_HUMAN	WEE1 G2 checkpoint kinase	580					blood coagulation (GO:0007596)|establishment of cell polarity (GO:0030010)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuron projection morphogenesis (GO:0048812)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.L580F(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		CAGAACAATTACGAATAGAAT	0.353																																						uc001mhs.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	5						c.(1738-1740)TTA>TTT		WEE1 tyrosine kinase isoform 1							50.0	52.0	51.0					11																	9608356		2201	4294	6495	SO:0001583	missense	7465				blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity	g.chr11:9608356A>T	X62048	CCDS7800.1, CCDS44536.1	11p15.4	2013-10-21	2013-10-21		ENSG00000166483	ENSG00000166483			12761	protein-coding gene	gene with protein product		193525	"""wee1+ (S. pombe) homolog"", ""WEE1 homolog (S. pombe)"""			1840647	Standard	NM_003390		Approved		uc001mhs.3	P30291	OTTHUMG00000165863	ENST00000450114.2:c.1740A>T	11.37:g.9608356A>T	ENSP00000402084:p.Leu580Phe					WEE1_uc001mht.2_Missense_Mutation_p.L366F	p.L580F	NM_003390	NP_003381	P30291	WEE1_HUMAN		all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)	10	1993	+			580					B3KVE1|D3DQV0	Missense_Mutation	SNP	ENST00000450114.2	37	c.1740A>T	CCDS7800.1	.	.	.	.	.	.	.	.	.	.	A	18.94	3.729355	0.69074	.	.	ENSG00000166483	ENST00000450114;ENST00000299613;ENST00000530712;ENST00000527848	T;T;T;T	0.74209	0.97;0.97;1.52;-0.82	5.84	2.31	0.28768	Protein kinase-like domain (1);	0.077659	0.51477	D	0.000082	D	0.82802	0.5116	M	0.80982	2.52	0.48571	D	0.999679	D	0.89917	1.0	D	0.91635	0.999	T	0.80103	-0.1522	10	0.62326	D	0.03	-9.6165	5.3285	0.15920	0.4996:0.1485:0.3518:0.0	.	580	P30291	WEE1_HUMAN	F	580;366;186;32	ENSP00000402084:L580F;ENSP00000299613:L366F;ENSP00000434148:L186F;ENSP00000432284:L32F	ENSP00000299613:L366F	L	+	3	2	WEE1	9564932	0.971000	0.33674	1.000000	0.80357	0.991000	0.79684	0.114000	0.15520	0.471000	0.27319	0.482000	0.46254	TTA		PASS	0.353	WEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386757.1	NM_003390		22	23	22	23	---	---	---	---
COPB1	1315	broad.mit.edu	37	11	14490962	14490962	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr11:14490962C>T	ENST00000249923.3	-	15	2185	c.1885G>A	c.(1885-1887)Gac>Aac	p.D629N	COPB1_ENST00000439561.2_Missense_Mutation_p.D629N	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	629					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)	p.D629N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						TTGAAAATGTCATTCATTAAA	0.383																																						uc001mli.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1885-1887)GAC>AAC		coatomer protein complex, subunit beta 1							166.0	158.0	161.0					11																	14490962		2200	4294	6494	SO:0001583	missense	1315				COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity	g.chr11:14490962C>T	BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"""coatomer protein complex, subunit beta"""	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.1885G>A	11.37:g.14490962C>T	ENSP00000249923:p.Asp629Asn					COPB1_uc001mlg.2_Missense_Mutation_p.D629N|COPB1_uc001mlh.2_Missense_Mutation_p.D629N	p.D629N	NM_016451	NP_057535	P53618	COPB_HUMAN			15	2192	-			629					D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Missense_Mutation	SNP	ENST00000249923.3	37	c.1885G>A	CCDS7815.1	.	.	.	.	.	.	.	.	.	.	C	19.87	3.907432	0.72868	.	.	ENSG00000129083	ENST00000249923;ENST00000439561	T;T	0.13538	2.58;2.58	5.91	5.91	0.95273	Armadillo-like helical (1);Armadillo-type fold (1);	0.082947	0.85682	D	0.000000	T	0.13756	0.0333	L	0.33245	0.995	0.80722	D	1	B	0.12630	0.006	B	0.14023	0.01	T	0.13845	-1.0494	10	0.19147	T	0.46	-9.6458	20.2983	0.98569	0.0:1.0:0.0:0.0	.	629	P53618	COPB_HUMAN	N	629	ENSP00000249923:D629N;ENSP00000397873:D629N	ENSP00000249923:D629N	D	-	1	0	COPB1	14447538	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.535000	0.82014	2.802000	0.96397	0.655000	0.94253	GAC		PASS	0.383	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451		57	100	57	100	---	---	---	---
LGR4	55366	broad.mit.edu	37	11	27390143	27390143	+	Silent	SNP	C	C	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr11:27390143C>T	ENST00000379214.4	-	18	2570	c.2127G>A	c.(2125-2127)acG>acA	p.T709T	LGR4_ENST00000389858.4_Silent_p.T685T	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	709			T -> M (in dbSNP:rs34717439).		bone mineralization (GO:0030282)|bone remodeling (GO:0046849)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cell differentiation involved in metanephros development (GO:0072202)|epithelial cell proliferation (GO:0050673)|innate immune response (GO:0045087)|male genitalia development (GO:0030539)|metanephric glomerulus development (GO:0072224)|metanephric nephron tubule morphogenesis (GO:0072282)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)	p.T709T(1)		NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						ATAGCACTAACGTTACAGTGA	0.398																																						uc001mrj.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2125-2127)ACG>ACA		leucine-rich repeat-containing G protein-coupled							104.0	101.0	102.0					11																	27390143		2202	4299	6501	SO:0001819	synonymous_variant	55366					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr11:27390143C>T	AF257182	CCDS31449.1	11p14-p13	2012-08-21	2011-01-25	2004-11-12	ENSG00000205213	ENSG00000205213		"""GPCR / Class A : Orphans"""	13299	protein-coding gene	gene with protein product		606666	"""G protein-coupled receptor 48"", ""leucine-rich repeat-containing G protein-coupled receptor 4"""	GPR48		10894923	Standard	NM_018490		Approved		uc001mrj.4	Q9BXB1	OTTHUMG00000133508	ENST00000379214.4:c.2127G>A	11.37:g.27390143C>T						LGR4_uc001mrk.3_Silent_p.T685T	p.T709T	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN			18	2612	-			709			Helical; Name=5; (Potential).		A6NCH3|G5E9B3|Q8N537|Q9NYD1	Silent	SNP	ENST00000379214.4	37	c.2127G>A	CCDS31449.1																																																																																				PASS	0.398	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257467.1	NM_018490		22	87	22	87	---	---	---	---
OR4C3	256144	broad.mit.edu	37	11	48346985	48346985	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr11:48346985C>G	ENST00000319856.4	+	1	514	c.493C>G	c.(493-495)Ctc>Gtc	p.L165V		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	138						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L165V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						GACCAGGCATCTCTGTGCCAT	0.532																																						uc010rhv.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(493-495)CTC>GTC		olfactory receptor, family 4, subfamily C,							146.0	140.0	142.0					11																	48346985		2201	4298	6499	SO:0001583	missense	256144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48346985C>G	AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"""GPCR / Class A : Olfactory receptors"""	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.493C>G	11.37:g.48346985C>G	ENSP00000321419:p.Leu165Val						p.L165V	NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN			1	493	+			138			Helical; Name=4; (Potential).		B2RNF2|Q6IFB3	Missense_Mutation	SNP	ENST00000319856.4	37	c.493C>G	CCDS31489.1	.	.	.	.	.	.	.	.	.	.	C	0.405	-0.916045	0.02415	.	.	ENSG00000176547	ENST00000319856;ENST00000395239	T	0.00115	8.71	5.78	1.58	0.23477	GPCR, rhodopsin-like superfamily (1);	0.146385	0.31963	N	0.006784	T	0.00039	0.0001	N	0.01779	-0.725	0.09310	N	1	B	0.11235	0.004	B	0.20184	0.028	T	0.38929	-0.9638	10	0.02654	T	1	.	3.6891	0.08339	0.2763:0.3795:0.2683:0.076	.	138	Q8NH37	OR4C3_HUMAN	V	165;28	ENSP00000321419:L165V	ENSP00000321419:L165V	L	+	1	0	OR4C3	48303561	0.000000	0.05858	0.970000	0.41538	0.876000	0.50452	-0.816000	0.04477	0.801000	0.34066	0.478000	0.44815	CTC		PASS	0.532	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702		16	79	16	79	---	---	---	---
OR4C46	119749	broad.mit.edu	37	11	51515731	51515731	+	Silent	SNP	C	C	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr11:51515731C>T	ENST00000328188.1	+	1	450	c.450C>T	c.(448-450)ggC>ggT	p.G150G		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G150G(1)		endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						GGATGGGAGGCTTTCTTCATG	0.458																																						uc010ric.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(448-450)GGC>GGT		olfactory receptor, family 4, subfamily C,							156.0	148.0	151.0					11																	51515731		2201	4296	6497	SO:0001819	synonymous_variant	119749				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51515731C>T		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.450C>T	11.37:g.51515731C>T							p.G150G	NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN			1	450	+			150			Helical; Name=4; (Potential).			Silent	SNP	ENST00000328188.1	37	c.450C>T	CCDS31498.1																																																																																				PASS	0.458	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	NM_001004703		27	47	27	47	---	---	---	---
OR4C16	219428	broad.mit.edu	37	11	55340086	55340086	+	Silent	SNP	C	C	A	rs374467174		TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr11:55340086C>A	ENST00000314634.3	+	1	483	c.483C>A	c.(481-483)gcC>gcA	p.A161A		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	161						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A161A(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TTTTTCTTGCCCTGAGTTTGC	0.473																																						uc010rih.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(481-483)GCC>GCA		olfactory receptor, family 4, subfamily C,							132.0	122.0	126.0					11																	55340086		2201	4296	6497	SO:0001819	synonymous_variant	219428				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55340086C>A	AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"""GPCR / Class A : Olfactory receptors"""	15172	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily C, member 16"""				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.483C>A	11.37:g.55340086C>A							p.A161A	NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN			1	483	+		all_epithelial(135;0.0748)	161			Extracellular (Potential).		Q6IEV8	Silent	SNP	ENST00000314634.3	37	c.483C>A	CCDS31502.1																																																																																				PASS	0.473	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382627.1	NM_001004701		12	74	12	74	---	---	---	---
OR5D18	219438	broad.mit.edu	37	11	55587702	55587702	+	Silent	SNP	G	G	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr11:55587702G>T	ENST00000333976.4	+	1	617	c.597G>T	c.(595-597)ctG>ctT	p.L199L		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L199L(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				ACCAGTGGCTGCTATTCTTTC	0.403																																						uc010rin.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(595-597)CTG>CTT		olfactory receptor, family 5, subfamily D,							190.0	165.0	173.0					11																	55587702		2200	4296	6496	SO:0001819	synonymous_variant	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587702G>T	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.597G>T	11.37:g.55587702G>T							p.L199L	NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN			1	597	+		all_epithelial(135;0.208)	199			Helical; Name=5; (Potential).		Q6IF67|Q6IFD3|Q96RB3	Silent	SNP	ENST00000333976.4	37	c.597G>T	CCDS31510.1																																																																																				PASS	0.403	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		4	73	4	73	---	---	---	---
OR8H3	390152	broad.mit.edu	37	11	55890545	55890545	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr11:55890545G>A	ENST00000313472.3	+	1	697	c.697G>A	c.(697-699)Gga>Aga	p.G233R		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G233R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TTCCACTTCAGGAAAGCAGAA	0.398																																						uc001nii.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(697-699)GGA>AGA		olfactory receptor, family 8, subfamily H,							130.0	123.0	125.0					11																	55890545		2201	4294	6495	SO:0001583	missense	390152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55890545G>A	AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"""GPCR / Class A : Olfactory receptors"""	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.697G>A	11.37:g.55890545G>A	ENSP00000323928:p.Gly233Arg						p.G233R	NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN			1	697	+	Esophageal squamous(21;0.00693)		233			Cytoplasmic (Potential).		Q6IFB7	Missense_Mutation	SNP	ENST00000313472.3	37	c.697G>A	CCDS31519.1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.889851	0.33348	.	.	ENSG00000181761	ENST00000313472	T	0.00295	8.25	3.62	2.69	0.31865	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000080	T	0.00440	0.0014	M	0.82716	2.605	0.09310	N	1	P	0.46512	0.879	P	0.51079	0.658	T	0.30149	-0.9988	10	0.87932	D	0	.	9.5638	0.39385	0.1841:0.0:0.8159:0.0	.	233	Q8N146	OR8H3_HUMAN	R	233	ENSP00000323928:G233R	ENSP00000323928:G233R	G	+	1	0	OR8H3	55647121	0.609000	0.26975	0.993000	0.49108	0.400000	0.30750	0.640000	0.24705	0.636000	0.30508	0.173000	0.16961	GGA		PASS	0.398	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		19	64	19	64	---	---	---	---
OR5B2	390190	broad.mit.edu	37	11	58190360	58190360	+	Silent	SNP	G	G	A			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr11:58190360G>A	ENST00000302581.2	-	1	426	c.375C>T	c.(373-375)tgC>tgT	p.C125C		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C125C(1)		NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GTAGGGGTTTGCACACTGCTG	0.507																																						uc010rkg.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(373-375)TGC>TGT		olfactory receptor, family 5, subfamily B,							108.0	89.0	95.0					11																	58190360		2201	4295	6496	SO:0001819	synonymous_variant	390190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58190360G>A	AB065852	CCDS31550.1	11q12.1	2012-08-09			ENSG00000172365	ENSG00000172365		"""GPCR / Class A : Olfactory receptors"""	8323	protein-coding gene	gene with protein product							Standard	NM_001005566		Approved	OST073	uc010rkg.2	Q96R09	OTTHUMG00000167517	ENST00000302581.2:c.375C>T	11.37:g.58190360G>A							p.C125C	NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN			1	375	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	125			Cytoplasmic (Potential).		B2RNJ6|B9EGY7|Q6IEV7|Q8NGF5	Silent	SNP	ENST00000302581.2	37	c.375C>T	CCDS31550.1																																																																																				PASS	0.507	OR5B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394887.2	NM_001005566		28	38	28	38	---	---	---	---
MS4A14	84689	broad.mit.edu	37	11	60183423	60183423	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr11:60183423G>A	ENST00000300187.6	+	5	1259	c.982G>A	c.(982-984)Gaa>Aaa	p.E328K	MS4A14_ENST00000531787.1_Missense_Mutation_p.E216K|MS4A14_ENST00000531783.1_Missense_Mutation_p.E361K|MS4A14_ENST00000395005.2_Missense_Mutation_p.E311K|MS4A14_ENST00000395001.1_3'UTR	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	328						integral component of membrane (GO:0016021)		p.E328K(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						TCTACCAGTAGAAGGCCTGTC	0.468																																						uc001npj.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(982-984)GAA>AAA		membrane-spanning 4-domains, subfamily A, member							111.0	100.0	103.0					11																	60183423		2203	4300	6503	SO:0001583	missense	84689					integral to membrane	receptor activity	g.chr11:60183423G>A	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.982G>A	11.37:g.60183423G>A	ENSP00000300187:p.Glu328Lys					MS4A14_uc001npi.2_Missense_Mutation_p.E216K|MS4A14_uc001npn.2_Missense_Mutation_p.E66K|MS4A14_uc001npk.2_Missense_Mutation_p.E311K|MS4A14_uc001npl.2_Missense_Mutation_p.E66K|MS4A14_uc001npm.2_Missense_Mutation_p.E66K	p.E328K	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN			5	1547	+			328					E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	ENST00000300187.6	37	c.982G>A	CCDS31569.1	.	.	.	.	.	.	.	.	.	.	G	5.796	0.331173	0.10956	.	.	ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000531783	T;T;T;T	0.28454	1.61;2.83;1.61;3.19	2.91	-3.54	0.04653	.	5.652710	0.00166	N	0.000012	T	0.15176	0.0366	N	0.08118	0	0.09310	N	0.999999	B;B	0.14012	0.009;0.005	B;B	0.10450	0.005;0.002	T	0.14924	-1.0455	10	0.20046	T	0.44	-0.6343	6.9327	0.24449	0.2847:0.2517:0.4636:0.0	.	311;328	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	K	216;328;311;361	ENSP00000437222:E216K;ENSP00000300187:E328K;ENSP00000378453:E311K;ENSP00000433761:E361K	ENSP00000300187:E328K	E	+	1	0	MS4A14	59939999	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.724000	0.01865	-0.815000	0.04346	-0.232000	0.12228	GAA		PASS	0.468	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2			12	73	12	73	---	---	---	---
CCDC87	55231	broad.mit.edu	37	11	66359641	66359641	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr11:66359641C>A	ENST00000333861.3	-	1	913	c.846G>T	c.(844-846)caG>caT	p.Q282H	CCS_ENST00000533244.1_5'Flank|CCS_ENST00000310190.4_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	282					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)			p.Q282H(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCGACACCATCTGTGAGGAAC	0.572																																						uc001oiq.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(844-846)CAG>CAT		coiled-coil domain containing 87							56.0	55.0	55.0					11																	66359641		2200	4295	6495	SO:0001583	missense	55231							g.chr11:66359641C>A	BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.846G>T	11.37:g.66359641C>A	ENSP00000328487:p.Gln282His					CCS_uc001oir.2_5'Flank	p.Q282H	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN			1	914	-			282					Q8NE76	Missense_Mutation	SNP	ENST00000333861.3	37	c.846G>T	CCDS8145.1	.	.	.	.	.	.	.	.	.	.	C	8.738	0.918347	0.17982	.	.	ENSG00000182791	ENST00000333861	T	0.34072	1.38	4.29	3.38	0.38709	.	0.766936	0.11115	N	0.598135	T	0.41719	0.1171	L	0.57536	1.79	0.09310	N	1	D	0.69078	0.997	P	0.49561	0.615	T	0.22347	-1.0219	10	0.56958	D	0.05	-8.5289	8.3127	0.32082	0.0:0.8913:0.0:0.1087	.	282	Q9NVE4	CCD87_HUMAN	H	282	ENSP00000328487:Q282H	ENSP00000328487:Q282H	Q	-	3	2	CCDC87	66116217	0.001000	0.12720	0.048000	0.18961	0.068000	0.16541	0.441000	0.21611	1.156000	0.42514	0.514000	0.50259	CAG		PASS	0.572	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393825.1	NM_018219		14	24	14	24	---	---	---	---
SPTBN2	6712	broad.mit.edu	37	11	66460763	66460763	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr11:66460763C>T	ENST00000533211.1	-	24	5079	c.4748G>A	c.(4747-4749)cGa>cAa	p.R1583Q	SPTBN2_ENST00000309996.2_Missense_Mutation_p.R1583Q|SPTBN2_ENST00000529997.1_Missense_Mutation_p.R1583Q			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1583					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)	p.R1583Q(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						ATCCTCCAGTCGCTTCCCTCG	0.637																																						uc001ojd.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(4747-4749)CGA>CAA		spectrin, beta, non-erythrocytic 2							67.0	69.0	69.0					11																	66460763		2200	4295	6495	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66460763C>T	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.4748G>A	11.37:g.66460763C>T	ENSP00000432568:p.Arg1583Gln						p.R1583Q	NM_006946	NP_008877	O15020	SPTN2_HUMAN			23	4820	-			1583			Spectrin 12.		O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.4748G>A	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.949488	0.92660	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.49720	0.77;0.77;0.77	4.2	4.2	0.49525	.	0.000000	0.64402	D	0.000002	T	0.58133	0.2101	L	0.42744	1.35	0.80722	D	1	D	0.76494	0.999	D	0.66847	0.947	T	0.55379	-0.8150	10	0.32370	T	0.25	.	15.4559	0.75314	0.0:1.0:0.0:0.0	.	1583	O15020	SPTN2_HUMAN	Q	1583	ENSP00000432568:R1583Q;ENSP00000311489:R1583Q;ENSP00000433593:R1583Q	ENSP00000311489:R1583Q	R	-	2	0	SPTBN2	66217339	1.000000	0.71417	0.706000	0.30403	0.902000	0.53008	5.689000	0.68234	2.164000	0.68074	0.462000	0.41574	CGA		PASS	0.637	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		11	43	11	43	---	---	---	---
LRRC32	2615	broad.mit.edu	37	11	76372514	76372514	+	Silent	SNP	G	G	C			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr11:76372514G>C	ENST00000407242.2	-	3	365	c.123C>G	c.(121-123)ctC>ctG	p.L41L	AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000260061.5_Silent_p.L41L|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000404995.1_Silent_p.L41L	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	41					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)		p.L41L(1)		endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						AGGGGACCTGGAGCAGGCCCA	0.622																																						uc001oxq.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(121-123)CTC>CTG		leucine rich repeat containing 32 precursor							32.0	32.0	32.0					11																	76372514		2200	4291	6491	SO:0001819	synonymous_variant	2615					integral to plasma membrane		g.chr11:76372514G>C	Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"""glycoprotein A repetitions predominant"""	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.123C>G	11.37:g.76372514G>C						LRRC32_uc001oxr.3_Silent_p.L41L|LRRC32_uc010rsf.1_Silent_p.L41L	p.L41L	NM_005512	NP_005503	Q14392	LRC32_HUMAN			3	366	-			41			Extracellular (Potential).		Q86V06	Silent	SNP	ENST00000407242.2	37	c.123C>G	CCDS8245.1																																																																																				PASS	0.622	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257926.2	NM_005512		5	10	5	10	---	---	---	---
CCDC81	60494	broad.mit.edu	37	11	86125862	86125862	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr11:86125862G>C	ENST00000445632.2	+	12	1695	c.1423G>C	c.(1423-1425)Gat>Cat	p.D475H	CCDC81_ENST00000528728.1_Missense_Mutation_p.D210H|CCDC81_ENST00000278487.3_Missense_Mutation_p.D210H|CCDC81_ENST00000354755.1_Missense_Mutation_p.D385H	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	475								p.D475H(1)|p.D385H(1)		kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				ATTTTTAAAAGATAAGATGGA	0.353																																						uc001pbx.1																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1423-1425)GAT>CAT		coiled-coil domain containing 81 isoform 1							60.0	60.0	60.0					11																	86125862		2202	4299	6501	SO:0001583	missense	60494							g.chr11:86125862G>C	AK131331	CCDS8276.1, CCDS53691.1	11q14.2	2006-03-09			ENSG00000149201	ENSG00000149201			26281	protein-coding gene	gene with protein product							Standard	NM_001156474		Approved	FLJ16339, FLJ23514	uc001pbx.2	Q6ZN84	OTTHUMG00000167213	ENST00000445632.2:c.1423G>C	11.37:g.86125862G>C	ENSP00000415528:p.Asp475His					CCDC81_uc001pbw.1_Missense_Mutation_p.D385H|CCDC81_uc010rtq.1_Missense_Mutation_p.D258H|CCDC81_uc001pby.1_Missense_Mutation_p.D210H	p.D475H	NM_001156474	NP_001149946	Q6ZN84	CCD81_HUMAN			12	1851	+		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)	475			Potential.		A0AVL7|Q53FW3|Q9H5E5	Missense_Mutation	SNP	ENST00000445632.2	37	c.1423G>C	CCDS53691.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.784515	0.49997	.	.	ENSG00000149201	ENST00000354755;ENST00000278487;ENST00000445632;ENST00000528728	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.86	4.93	0.64822	.	0.348186	0.30028	N	0.010588	T	0.58637	0.2136	M	0.62723	1.935	0.31003	N	0.720126	D;D;P	0.76494	0.999;0.996;0.695	D;D;B	0.63877	0.919;0.914;0.324	T	0.64292	-0.6442	9	.	.	.	-11.2979	14.1144	0.65144	0.0:0.1507:0.8493:0.0	.	210;475;385	Q6ZN84-3;Q6ZN84;Q6ZN84-2	.;CCD81_HUMAN;.	H	385;210;475;210	ENSP00000346800:D385H;ENSP00000278487:D210H;ENSP00000415528:D475H;ENSP00000437165:D210H	.	D	+	1	0	CCDC81	85803510	1.000000	0.71417	0.998000	0.56505	0.287000	0.27160	5.292000	0.65673	1.430000	0.47334	0.650000	0.86243	GAT		PASS	0.353	CCDC81-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393756.1	NM_021827		9	24	9	24	---	---	---	---
OR8B4	283162	broad.mit.edu	37	11	124294666	124294666	+	Silent	SNP	G	G	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr11:124294666G>T	ENST00000356130.3	-	1	123	c.102C>A	c.(100-102)atC>atA	p.I34I		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	34						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I34I(1)		endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TGAACACATAGATCCCTAAGA	0.458																																						uc010sak.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(100-102)ATC>ATA		olfactory receptor, family 8, subfamily B,							65.0	63.0	63.0					11																	124294666		2201	4299	6500	SO:0001819	synonymous_variant	283162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124294666G>T	AB065831	CCDS31710.1	11q24	2012-08-09		2001-06-29	ENSG00000198657	ENSG00000198657		"""GPCR / Class A : Olfactory receptors"""	8473	protein-coding gene	gene with protein product				OR8B4P			Standard	NM_001005196		Approved		uc010sak.2	Q96RC9	OTTHUMG00000165916	ENST00000356130.3:c.102C>A	11.37:g.124294666G>T							p.I34I	NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	1	102	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	34			Helical; Name=1; (Potential).		B2RNF8|Q6IFQ7	Silent	SNP	ENST00000356130.3	37	c.102C>A	CCDS31710.1																																																																																				PASS	0.458	OR8B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387055.1	NM_001005196		17	57	17	57	---	---	---	---
CACNA1C	775	broad.mit.edu	37	12	2602441	2602441	+	Silent	SNP	C	C	T	rs112002520		TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr12:2602441C>T	ENST00000347598.4	+	7	1002	c.1002C>T	c.(1000-1002)ccC>ccT	p.P334P	CACNA1C_ENST00000399634.1_Silent_p.P334P|CACNA1C_ENST00000399649.1_Silent_p.P334P|CACNA1C_ENST00000399655.1_Silent_p.P334P|CACNA1C_ENST00000399617.1_Silent_p.P334P|CACNA1C_ENST00000399595.1_Silent_p.P334P|CACNA1C_ENST00000399591.1_Silent_p.P334P|CACNA1C_ENST00000399644.1_Silent_p.P334P|CACNA1C_ENST00000327702.7_Silent_p.P334P|CACNA1C_ENST00000399637.1_Silent_p.P334P|CACNA1C_ENST00000402845.3_Silent_p.P334P|CACNA1C_ENST00000344100.3_Silent_p.P334P|CACNA1C_ENST00000399621.1_Silent_p.P334P|CACNA1C_ENST00000399601.1_Silent_p.P334P|CACNA1C_ENST00000399641.1_Silent_p.P334P|CACNA1C_ENST00000399629.1_Silent_p.P334P|CACNA1C_ENST00000399606.1_Silent_p.P334P|CACNA1C_ENST00000335762.5_Silent_p.P334P|CACNA1C_ENST00000399597.1_Silent_p.P334P|CACNA1C_ENST00000406454.3_Silent_p.P334P|CACNA1C_ENST00000399603.1_Silent_p.P334P|CACNA1C_ENST00000399638.1_Silent_p.P334P|CACNA1C_ENST00000480911.1_Silent_p.P334P	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	334					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.P334P(6)|p.P364P(2)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TGTGCAAGCCCGGCTGGGATG	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		20047	0.001		0.0	False		,,,				2504	0.0					uc009zdu.1																			8	Substitution - coding silent(8)		lung(8)	ovary(10)|central_nervous_system(1)	11						c.(1000-1002)CCC>CCT		calcium channel, voltage-dependent, L type,	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						116.0	117.0	116.0					12																	2602441		2197	4294	6491	SO:0001819	synonymous_variant	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2602441C>T	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.1002C>T	12.37:g.2602441C>T						CACNA1C_uc009zdv.1_Silent_p.P331P|CACNA1C_uc001qkb.2_Silent_p.P334P|CACNA1C_uc001qkc.2_Silent_p.P334P|CACNA1C_uc001qke.2_Silent_p.P334P|CACNA1C_uc001qkf.2_Silent_p.P334P|CACNA1C_uc001qjz.2_Silent_p.P334P|CACNA1C_uc001qkd.2_Silent_p.P334P|CACNA1C_uc001qkg.2_Silent_p.P334P|CACNA1C_uc009zdw.1_Silent_p.P334P|CACNA1C_uc001qkh.2_Silent_p.P334P|CACNA1C_uc001qkl.2_Silent_p.P334P|CACNA1C_uc001qkn.2_Silent_p.P334P|CACNA1C_uc001qko.2_Silent_p.P334P|CACNA1C_uc001qkp.2_Silent_p.P334P|CACNA1C_uc001qkr.2_Silent_p.P334P|CACNA1C_uc001qku.2_Silent_p.P334P|CACNA1C_uc001qkq.2_Silent_p.P334P|CACNA1C_uc001qks.2_Silent_p.P334P|CACNA1C_uc001qkt.2_Silent_p.P334P|CACNA1C_uc001qka.1_5'UTR|CACNA1C_uc001qki.1_Silent_p.P70P|CACNA1C_uc001qkj.1_Silent_p.P70P|CACNA1C_uc001qkk.1_Silent_p.P70P|CACNA1C_uc001qkm.1_Silent_p.P70P	p.P334P	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	7	1315	+			334			I.|Extracellular (Potential).		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	ENST00000347598.4	37	c.1002C>T	CCDS44788.1																																																																																				PASS	0.602	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		23	106	23	106	---	---	---	---
C2CD5	9847	broad.mit.edu	37	12	22623791	22623791	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr12:22623791T>A	ENST00000333957.4	-	21	2668	c.2413A>T	c.(2413-2415)Aca>Tca	p.T805S	C2CD5_ENST00000545552.1_Missense_Mutation_p.T818S|C2CD5_ENST00000446597.1_Missense_Mutation_p.T805S|C2CD5_ENST00000396028.2_Missense_Mutation_p.T796S|C2CD5_ENST00000544930.1_Missense_Mutation_p.T620S|C2CD5_ENST00000542676.1_Missense_Mutation_p.T805S|C2CD5_ENST00000536386.1_Missense_Mutation_p.T807S	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	805					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)	p.T805S(1)|p.T620S(1)									GGGGTTTTTGTGGTTTGTAAA	0.338																																						uc001rfq.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						c.(2413-2415)ACA>TCA		hypothetical protein LOC9847							151.0	142.0	145.0					12																	22623791		2203	4300	6503	SO:0001583	missense	9847						protein binding	g.chr12:22623791T>A	AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"""138 kDa C2 domain-containing phosphoprotein"""		"""KIAA0528"""	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.2413A>T	12.37:g.22623791T>A	ENSP00000334229:p.Thr805Ser					KIAA0528_uc010sir.1_Missense_Mutation_p.T620S|KIAA0528_uc010sis.1_Missense_Mutation_p.T805S|KIAA0528_uc010sit.1_Missense_Mutation_p.T807S|KIAA0528_uc010siu.1_Missense_Mutation_p.T805S|KIAA0528_uc001rfr.2_Missense_Mutation_p.T796S	p.T805S	NM_014802	NP_055617	Q86YS7	K0528_HUMAN			21	2641	-			805					B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Missense_Mutation	SNP	ENST00000333957.4	37	c.2413A>T	CCDS31758.1	.	.	.	.	.	.	.	.	.	.	T	4.383	0.070599	0.08436	.	.	ENSG00000111731	ENST00000333957;ENST00000446597;ENST00000536386;ENST00000396028;ENST00000542676;ENST00000545552;ENST00000544930	T;T;T;T;T;T	0.62788	-0.0;0.0;0.0;0.0;0.0;0.02	4.99	2.65	0.31530	.	0.269166	0.38326	N	0.001726	T	0.38348	0.1037	N	0.14661	0.345	0.23820	N	0.996758	B;B;B;B;B	0.24368	0.001;0.001;0.041;0.102;0.003	B;B;B;B;B	0.20767	0.004;0.002;0.018;0.031;0.003	T	0.16778	-1.0391	10	0.19590	T	0.45	-11.1982	7.7633	0.28965	0.0:0.3139:0.0:0.6861	.	807;805;620;796;805	F5H2A1;B4DRN7;F5H3N1;Q86YS7-2;Q86YS7	.;.;.;.;K0528_HUMAN	S	805;805;807;796;805;818;620	ENSP00000334229:T805S;ENSP00000388756:T805S;ENSP00000439392:T807S;ENSP00000379345:T796S;ENSP00000441951:T805S;ENSP00000443204:T818S	ENSP00000334229:T805S	T	-	1	0	KIAA0528	22515058	0.056000	0.20664	0.998000	0.56505	0.681000	0.39784	0.553000	0.23391	0.404000	0.25506	0.482000	0.46254	ACA		PASS	0.338	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802		8	26	8	26	---	---	---	---
ABCD2	225	broad.mit.edu	37	12	40013001	40013001	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr12:40013001C>A	ENST00000308666.3	-	1	552	c.417G>T	c.(415-417)aaG>aaT	p.K139N		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	139	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.|Interaction with PEX19.				fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)	p.K139N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						AAGTCCGAGGCTTCTTTTCCA	0.438																																						uc001rmb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1)	6						c.(415-417)AAG>AAT		ATP-binding cassette, sub-family D, member 2							95.0	93.0	94.0					12																	40013001		2203	4300	6503	SO:0001583	missense	225				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	g.chr12:40013001C>A	U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"""ATP binding cassette transporters / subfamily D"""	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.417G>T	12.37:g.40013001C>A	ENSP00000310688:p.Lys139Asn						p.K139N	NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN			1	843	-			139			ABC transmembrane type-1.|Interaction with PEX19.		B2RAM3|Q13210|Q2M3H9	Missense_Mutation	SNP	ENST00000308666.3	37	c.417G>T	CCDS8734.1	.	.	.	.	.	.	.	.	.	.	C	6.676	0.493346	0.12702	.	.	ENSG00000173208	ENST00000308666	D	0.90788	-2.73	4.58	-0.568	0.11760	ABC transporter, N-terminal (1);ABC transporter, integral membrane type 1 (1);	0.239236	0.44285	D	0.000479	T	0.69806	0.3152	N	0.02357	-0.585	0.33071	D	0.535321	B	0.02656	0.0	B	0.04013	0.001	T	0.60811	-0.7189	9	.	.	.	-7.4644	5.7765	0.18281	0.0:0.4896:0.1307:0.3797	.	139	Q9UBJ2	ABCD2_HUMAN	N	139	ENSP00000310688:K139N	.	K	-	3	2	ABCD2	38299268	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.485000	0.22324	0.200000	0.20447	0.563000	0.77884	AAG		PASS	0.438	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1	NM_005164		11	70	11	70	---	---	---	---
AMHR2	269	broad.mit.edu	37	12	53819613	53819613	+	Silent	SNP	C	C	T	rs115267458		TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr12:53819613C>T	ENST00000257863.4	+	6	842	c.762C>T	c.(760-762)caC>caT	p.H254H	AMHR2_ENST00000379791.3_Silent_p.H254H|AMHR2_ENST00000550311.1_Silent_p.H254H	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	254	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)	p.H254H(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	GCCTACAGCACGACCACATTG	0.587																																						uc001scx.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(760-762)CAC>CAT		anti-Mullerian hormone receptor, type II isoform	Adenosine triphosphate(DB00171)						72.0	62.0	66.0					12																	53819613		2203	4300	6503	SO:0001819	synonymous_variant	269	Persistant_Mullerian_Duct_Syndrome_(type_I_and_II)			Mullerian duct regression		ATP binding|hormone binding|metal ion binding	g.chr12:53819613C>T	AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"""Muellerian inhibiting substance type II receptor"""	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.762C>T	12.37:g.53819613C>T						AMHR2_uc009zmy.1_Silent_p.H254H	p.H254H	NM_020547	NP_065434	Q16671	AMHR2_HUMAN			6	840	+			254			Cytoplasmic (Potential).|Protein kinase.		A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Silent	SNP	ENST00000257863.4	37	c.762C>T	CCDS8858.1																																																																																				PASS	0.587	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407048.1	NM_020547		5	24	5	24	---	---	---	---
SHMT2	6472	broad.mit.edu	37	12	57626301	57626301	+	Silent	SNP	C	C	G			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr12:57626301C>G	ENST00000328923.3	+	6	1112	c.660C>G	c.(658-660)ctC>ctG	p.L220L	SHMT2_ENST00000414700.3_Silent_p.L199L|SHMT2_ENST00000554600.1_3'UTR|SHMT2_ENST00000553474.1_Silent_p.L199L|SHMT2_ENST00000557487.1_Silent_p.L210L|SHMT2_ENST00000449049.3_Silent_p.L199L|SHMT2_ENST00000393827.4_Silent_p.L124L	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	220					glycine biosynthetic process from serine (GO:0019264)|L-serine biosynthetic process (GO:0006564)|one-carbon metabolic process (GO:0006730)|positive regulation of cell proliferation (GO:0008284)|protein homotetramerization (GO:0051289)|tetrahydrofolate interconversion (GO:0035999)	extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|chromatin binding (GO:0003682)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|pyridoxal phosphate binding (GO:0030170)	p.L220L(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Tetrahydrofolic acid(DB00116)	GGCCACGGCTCATCATAGCTG	0.597																																					Esophageal Squamous(150;1369 2416 49071 49364)	uc001snf.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(658-660)CTC>CTG		serine hydroxymethyltransferase 2	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)						99.0	98.0	99.0					12																	57626301		2203	4300	6503	SO:0001819	synonymous_variant	6472					microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity	g.chr12:57626301C>G	AK223555	CCDS8934.1, CCDS53805.1, CCDS55837.1	12q12-q14	2006-03-27				ENSG00000182199	2.1.2.1		10852	protein-coding gene	gene with protein product		138450		SHMT		8999870	Standard	NM_005412		Approved		uc001snf.2	P34897		ENST00000328923.3:c.660C>G	12.37:g.57626301C>G						SHMT2_uc001sng.1_Silent_p.L116L|SHMT2_uc001snh.1_Silent_p.L59L|SHMT2_uc009zpk.1_Silent_p.L210L|SHMT2_uc001sni.1_Silent_p.L199L|SHMT2_uc010srg.1_Silent_p.L229L|SHMT2_uc001snj.1_Silent_p.L124L|SHMT2_uc010srh.1_Silent_p.L199L|SHMT2_uc001snk.1_Silent_p.L124L|SHMT2_uc010sri.1_Silent_p.L199L|SHMT2_uc001snl.2_Silent_p.L124L|SHMT2_uc010srj.1_5'Flank	p.L220L	NM_005412	NP_005403	P34897	GLYM_HUMAN			6	670	+			220					B7Z9F1|E7EQ19|E7EU43|O00740|Q8N1A5	Silent	SNP	ENST00000328923.3	37	c.660C>G	CCDS8934.1	.	.	.	.	.	.	.	.	.	.	C	8.656	0.899461	0.17686	.	.	ENSG00000182199	ENST00000557529	.	.	.	5.09	-2.5	0.06384	.	.	.	.	.	T	0.51244	0.1663	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46345	-0.9198	4	.	.	.	-8.0965	7.368	0.26785	0.0:0.3867:0.1155:0.4978	.	.	.	.	D	20	.	.	H	+	1	0	SHMT2	55912568	0.012000	0.17670	0.853000	0.33588	0.892000	0.51952	-0.987000	0.03743	-0.343000	0.08351	-0.251000	0.11542	CAT		PASS	0.597	SHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412525.2	NM_005412		18	87	18	87	---	---	---	---
TSPAN31	6302	broad.mit.edu	37	12	58135755	58135755	+	5'Flank	SNP	C	C	G			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr12:58135755C>G	ENST00000257910.3	+	0	0				TSPAN31_ENST00000553221.1_Intron|AGAP2_ENST00000257897.3_Missense_Mutation_p.E34Q	NM_005981.3	NP_005972.1	Q12999	TSN31_HUMAN	tetraspanin 31						positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.E34Q(1)		endometrium(1)|kidney(1)|lung(5)	7	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			TCCACCCTCTCTGCCAGCTTC	0.567																																						uc001spr.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|breast(2)	5						c.(100-102)GAG>CAG		centaurin, gamma 1 isoform PIKE-S							214.0	174.0	187.0					12																	58135755		2203	4300	6503	SO:0001631	upstream_gene_variant	116986				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr12:58135755C>G		CCDS8952.1	12q13-q14	2013-02-14	2005-08-16	2005-08-16		ENSG00000135452		"""Tetraspanins"""	10539	protein-coding gene	gene with protein product		181035	"""sarcoma amplified sequence"""	SAS			Standard	NM_005981		Approved		uc001spt.3	Q12999			12.37:g.58135755C>G	Exception_encountered						p.E34Q	NM_014770	NP_055585	Q99490	AGAP2_HUMAN			1	186	-			Error:Variant_position_missing_in_Q99490_after_alignment					O00577|Q53X76	Missense_Mutation	SNP	ENST00000257910.3	37	c.100G>C	CCDS8952.1	.	.	.	.	.	.	.	.	.	.	c	12.74	2.028621	0.35797	.	.	ENSG00000135439	ENST00000257897	T	0.35236	1.32	4.66	3.7	0.42460	.	.	.	.	.	T	0.45836	0.1362	.	.	.	0.80722	D	1	P	0.52316	0.952	P	0.55508	0.777	T	0.30765	-0.9967	8	0.39692	T	0.17	.	10.2735	0.43497	0.0:0.7988:0.2012:0.0	.	34	Q99490-2	.	Q	34	ENSP00000257897:E34Q	ENSP00000257897:E34Q	E	-	1	0	AGAP2	56422022	1.000000	0.71417	0.999000	0.59377	0.341000	0.28922	3.754000	0.55189	2.318000	0.78349	0.282000	0.19409	GAG		PASS	0.567	TSPAN31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408778.1			15	77	15	77	---	---	---	---
HELB	92797	broad.mit.edu	37	12	66700160	66700160	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr12:66700160C>T	ENST00000247815.4	+	3	702	c.643C>T	c.(643-645)Ccg>Tcg	p.P215S		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	215					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)	p.P215S(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		TTTGCAGTTTCCGAAGATAAT	0.348																																						uc001sti.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(643-645)CCG>TCG		helicase (DNA) B							112.0	112.0	112.0					12																	66700160		2203	4300	6503	SO:0001583	missense	92797				DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	g.chr12:66700160C>T	AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.643C>T	12.37:g.66700160C>T	ENSP00000247815:p.Pro215Ser					HELB_uc010ssz.1_RNA|HELB_uc009zqt.1_RNA	p.P215S	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)	3	671	+			215					A8K4C9|Q4G0T2|Q9H7L5	Missense_Mutation	SNP	ENST00000247815.4	37	c.643C>T	CCDS8976.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.590216	0.86851	.	.	ENSG00000127311	ENST00000247815	T	0.50813	0.73	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.70046	0.3179	M	0.71581	2.175	0.50632	D	0.999888	D	0.89917	1.0	D	0.91635	0.999	T	0.67059	-0.5766	9	.	.	.	-19.1919	20.2664	0.98460	0.0:1.0:0.0:0.0	.	215	Q8NG08	HELB_HUMAN	S	215	ENSP00000247815:P215S	.	P	+	1	0	HELB	64986427	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.359000	0.66074	2.786000	0.95864	0.561000	0.74099	CCG		PASS	0.348	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1			13	45	13	45	---	---	---	---
PPFIA2	8499	broad.mit.edu	37	12	82147871	82147871	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr12:82147871G>T	ENST00000549396.1	-	3	290	c.130C>A	c.(130-132)Cgt>Agt	p.R44S	PPFIA2_ENST00000549325.1_Missense_Mutation_p.R44S|PPFIA2_ENST00000548586.1_Missense_Mutation_p.R44S|PPFIA2_ENST00000333447.7_Missense_Mutation_p.R44S|PPFIA2_ENST00000552948.1_Missense_Mutation_p.R44S|PPFIA2_ENST00000550584.2_Missense_Mutation_p.R44S	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	44					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)		p.R44S(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						TCTAGAAGACGATCCCTTTCA	0.527																																						uc001szo.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|pancreas(1)	6						c.(130-132)CGT>AGT		PTPRF interacting protein alpha 2							67.0	68.0	68.0					12																	82147871		1941	4144	6085	SO:0001583	missense	8499							g.chr12:82147871G>T	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.130C>A	12.37:g.82147871G>T	ENSP00000450337:p.Arg44Ser					PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA	p.R44S	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN			3	291	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	c.130C>A	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.897131	0.72639	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000552948;ENST00000551442;ENST00000547623	T;T;T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31;1.31;1.31	5.95	4.02	0.46733	.	0.065984	0.64402	D	0.000016	T	0.37128	0.0992	M	0.72894	2.215	0.80722	D	1	B	0.33940	0.433	B	0.28991	0.097	T	0.43605	-0.9381	10	0.87932	D	0	.	13.1992	0.59758	0.0:0.1223:0.7504:0.1273	.	44	O75334	LIPA2_HUMAN	S	44;44;55;44;44;44;44;44	ENSP00000450337:R44S;ENSP00000450298:R44S;ENSP00000327416:R44S;ENSP00000449338:R44S;ENSP00000447868:R44S;ENSP00000449469:R44S;ENSP00000447918:R44S	ENSP00000327416:R44S	R	-	1	0	PPFIA2	80672002	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.992000	0.88273	1.475000	0.48197	0.650000	0.86243	CGT		PASS	0.527	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			9	35	9	35	---	---	---	---
SOCS2	8835	broad.mit.edu	37	12	93968716	93968716	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr12:93968716G>C	ENST00000340600.2	+	3	956	c.358G>C	c.(358-360)Gac>Cac	p.D120H	SOCS2_ENST00000536696.2_Missense_Mutation_p.D120H|SOCS2_ENST00000551556.1_Missense_Mutation_p.D120H|SOCS2_ENST00000549206.1_Missense_Mutation_p.D120H|SOCS2_ENST00000549122.1_Missense_Mutation_p.D120H|SOCS2_ENST00000548537.1_3'UTR	NM_001270468.1|NM_001270469.1|NM_001270471.1|NM_003877.4	NP_001257397.1|NP_001257398.1|NP_001257400.1|NP_003868.1	O14508	SOCS2_HUMAN	suppressor of cytokine signaling 2	120	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cellular response to hormone stimulus (GO:0032870)|growth hormone receptor signaling pathway (GO:0060396)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of signal transduction (GO:0009967)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of signal transduction (GO:0009966)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	growth hormone receptor binding (GO:0005131)|insulin-like growth factor receptor binding (GO:0005159)|JAK pathway signal transduction adaptor activity (GO:0008269)|SH3/SH2 adaptor activity (GO:0005070)	p.D120H(1)		cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)	14						TAAACAATTTGACAGTGTGGT	0.433																																						uc001tcw.1																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(358-360)GAC>CAC		suppressor of cytokine signaling-2							83.0	79.0	80.0					12																	93968716		2203	4300	6503	SO:0001583	missense	8835				anti-apoptosis|growth hormone receptor signaling pathway|JAK-STAT cascade|negative regulation of signal transduction|regulation of cell growth|response to estradiol stimulus	cytoplasm	growth hormone receptor binding|insulin-like growth factor receptor binding|JAK pathway signal transduction adaptor activity|prolactin receptor binding|SH3/SH2 adaptor activity	g.chr12:93968716G>C	AF037989	CCDS9047.1	12q	2013-02-14			ENSG00000120833	ENSG00000120833		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	19382	protein-coding gene	gene with protein product	"""STAT-induced STAT inhibitor-2"""	605117				9344848, 9266833	Standard	NM_003877		Approved	STATI2, SSI2, SOCS-2, SSI-2, CIS2, Cish2	uc031qjc.1	O14508		ENST00000340600.2:c.358G>C	12.37:g.93968716G>C	ENSP00000339428:p.Asp120His					SOCS2_uc001tcx.1_Missense_Mutation_p.D120H|SOCS2_uc009zsu.2_3'UTR|SOCS2_uc001tcy.1_Missense_Mutation_p.D120H|SOCS2_uc001tcz.2_3'UTR	p.D120H	NM_003877	NP_003868	O14508	SOCS2_HUMAN			3	948	+			120			SH2.		A8K3D1|O14542|O95102|Q9UKS5	Missense_Mutation	SNP	ENST00000340600.2	37	c.358G>C	CCDS9047.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.799391	0.70567	.	.	ENSG00000120833	ENST00000340600;ENST00000549206;ENST00000536696;ENST00000539385;ENST00000548091;ENST00000549122;ENST00000549887;ENST00000551556	T;T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41;1.41	5.84	5.84	0.93424	SH2 motif (5);	0.087556	0.85682	D	0.000000	T	0.53158	0.1779	M	0.70903	2.155	0.58432	D	0.999995	D	0.76494	0.999	D	0.69654	0.965	T	0.52208	-0.8606	10	0.56958	D	0.05	-6.0448	13.7675	0.63004	0.0788:0.0:0.9212:0.0	.	120	O14508	SOCS2_HUMAN	H	120;120;120;68;120;120;120;120	ENSP00000339428:D120H;ENSP00000448815:D120H;ENSP00000442898:D120H;ENSP00000447902:D120H;ENSP00000447161:D120H;ENSP00000448611:D120H;ENSP00000449227:D120H	ENSP00000339428:D120H	D	+	1	0	SOCS2	92492847	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	4.161000	0.58170	2.765000	0.95021	0.655000	0.94253	GAC		PASS	0.433	SOCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407731.2			4	38	4	38	---	---	---	---
CFAP54	144535	broad.mit.edu	37	12	97087548	97087548	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr12:97087548C>T	ENST00000524981.4	+	45	6336	c.6313C>T	c.(6313-6315)Caa>Taa	p.Q2105*				Q96N23	CL055_HUMAN		0								p.Q530*(1)									TGGAATTTGTCAAGACATAAC	0.294																																						uc001tet.1																			1	Substitution - Nonsense(1)		lung(1)	skin(6)|ovary(1)	7						c.(1588-1590)CAA>TAA		hypothetical protein LOC374467							111.0	113.0	112.0					12																	97087548		2202	4297	6499	SO:0001587	stop_gained	374467							g.chr12:97087548C>T																												ENST00000524981.4:c.6313C>T	12.37:g.97087548C>T	ENSP00000431759:p.Gln2105*						p.Q530*	NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN			12	1666	+			530						Nonsense_Mutation	SNP	ENST00000524981.4	37	c.1588C>T		.	.	.	.	.	.	.	.	.	.	C	46	12.761007	0.99694	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	6.08	5.17	0.71159	.	0.285411	0.33834	N	0.004514	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-7.3592	12.832	0.57750	0.1364:0.7459:0.1177:0.0	.	.	.	.	X	2105;530	.	ENSP00000345466:Q530X	Q	+	1	0	C12orf63	95611679	1.000000	0.71417	1.000000	0.80357	0.695000	0.40330	2.677000	0.46892	1.537000	0.49254	0.655000	0.94253	CAA		PASS	0.294	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			8	44	8	44	---	---	---	---
ANKS1B	56899	broad.mit.edu	37	12	99478771	99478771	+	Silent	SNP	A	A	G			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr12:99478771A>G	ENST00000547776.2	-	16	2556	c.2557T>C	c.(2557-2559)Ttg>Ctg	p.L853L	ANKS1B_ENST00000546568.1_Silent_p.L79L|ANKS1B_ENST00000329257.7_Silent_p.L853L|ANKS1B_ENST00000549025.2_Silent_p.L22L|ANKS1B_ENST00000550693.2_Silent_p.L79L|ANKS1B_ENST00000549558.2_Silent_p.L79L|ANKS1B_ENST00000332712.7_Silent_p.L79L|RNA5SP366_ENST00000365454.1_RNA|ANKS1B_ENST00000547010.1_Silent_p.L429L|ANKS1B_ENST00000547446.1_Silent_p.L48L|ANKS1B_ENST00000549493.2_Silent_p.L79L|ANKS1B_ENST00000546960.1_Silent_p.L79L	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	853	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.					cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)	p.L79L(1)|p.L853L(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)		CCAATTTCCAACAAATCCTGA	0.363																																						uc001tge.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(2557-2559)TTG>CTG		cajalin 2 isoform a							86.0	82.0	83.0					12																	99478771		1852	4087	5939	SO:0001819	synonymous_variant	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:99478771A>G	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.2557T>C	12.37:g.99478771A>G						ANKS1B_uc001tgf.1_Silent_p.L429L|ANKS1B_uc001tgk.2_Silent_p.L150L|ANKS1B_uc001tgd.1_Silent_p.L79L|ANKS1B_uc001tgi.2_Silent_p.L79L|ANKS1B_uc009ztr.2_Silent_p.L79L|ANKS1B_uc001tgj.2_Silent_p.L79L|ANKS1B_uc001tgg.3_Silent_p.L22L|ANKS1B_uc010svg.1_Silent_p.L48L|ANKS1B_uc009zts.1_Silent_p.L79L|ANKS1B_uc001tgm.1_Silent_p.L79L	p.L853L	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)	16	2974	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	853			SAM 1.		A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Silent	SNP	ENST00000547776.2	37	c.2557T>C	CCDS55872.1																																																																																				PASS	0.363	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		3	12	3	12	---	---	---	---
HECTD4	283450	broad.mit.edu	37	12	112632695	112632695	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr12:112632695G>A	ENST00000430131.2	-	55	8622	c.7477C>T	c.(7477-7479)Ctc>Ttc	p.L2493F	HECTD4_ENST00000550722.1_Missense_Mutation_p.L2769F|HECTD4_ENST00000377560.5_Missense_Mutation_p.L2743F			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2493					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.L2493F(1)|p.L2743F(1)									TTACCTGGGAGAGGAGGTGCG	0.567																																						uc009zwc.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)	2						c.(7477-7479)CTC>TTC		chromosome 12 open reading frame 51							52.0	56.0	55.0					12																	112632695		2128	4239	6367	SO:0001583	missense	283450							g.chr12:112632695G>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.7477C>T	12.37:g.112632695G>A	ENSP00000404379:p.Leu2493Phe						p.L2493F	NM_001109662	NP_001103132					49	7495	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.7477C>T		.	.	.	.	.	.	.	.	.	.	G	20.3	3.960321	0.74016	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.49432	0.78;0.79;0.78	5.58	5.58	0.84498	.	.	.	.	.	T	0.58047	0.2095	N	0.24115	0.695	0.53005	D	0.999964	D	0.65815	0.995	D	0.72982	0.979	T	0.62153	-0.6914	9	0.72032	D	0.01	.	19.5639	0.95384	0.0:0.0:1.0:0.0	.	2493	Q9Y4D8	K0614_HUMAN	F	2743;2493;2769	ENSP00000366783:L2743F;ENSP00000404379:L2493F;ENSP00000449784:L2769F	ENSP00000366783:L2743F	L	-	1	0	C12orf51	111117078	1.000000	0.71417	1.000000	0.80357	0.225000	0.24961	7.528000	0.81941	2.635000	0.89317	0.655000	0.94253	CTC		PASS	0.567	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		4	12	4	12	---	---	---	---
HECTD4	283450	broad.mit.edu	37	12	112632708	112632708	+	Silent	SNP	G	G	A			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr12:112632708G>A	ENST00000430131.2	-	55	8609	c.7464C>T	c.(7462-7464)ctC>ctT	p.L2488L	HECTD4_ENST00000550722.1_Silent_p.L2764L|HECTD4_ENST00000377560.5_Silent_p.L2738L			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2488					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.L2488L(1)|p.L2738L(1)									GAGGTGCGAGGAGCTGATTGG	0.567																																						uc009zwc.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|lung(1)	2						c.(7462-7464)CTC>CTT		chromosome 12 open reading frame 51							62.0	67.0	66.0					12																	112632708		2147	4247	6394	SO:0001819	synonymous_variant	283450							g.chr12:112632708G>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.7464C>T	12.37:g.112632708G>A							p.L2488L	NM_001109662	NP_001103132					49	7482	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.7464C>T																																																																																					PASS	0.567	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		6	12	6	12	---	---	---	---
NOS1	4842	broad.mit.edu	37	12	117665253	117665253	+	Missense_Mutation	SNP	A	A	C			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr12:117665253A>C	ENST00000338101.4	-	23	3705	c.3701T>G	c.(3700-3702)gTt>gGt	p.V1234G	NOS1_ENST00000317775.6_Missense_Mutation_p.V1200G|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	24					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.V1200G(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		GCGGTAGGAAACGATGGCCAC	0.612																																					Esophageal Squamous(162;1748 2599 51982 52956)	uc001twm.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|pancreas(1)	7						c.(3598-3600)GTT>GGT		nitric oxide synthase 1, neuronal	L-Citrulline(DB00155)						49.0	57.0	54.0					12																	117665253		2045	4194	6239	SO:0001583	missense	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117665253A>C		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.3701T>G	12.37:g.117665253A>C	ENSP00000337459:p.Val1234Gly						p.V1200G	NM_000620	NP_000611	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	23	4285	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1200			FAD-binding FR-type.			Missense_Mutation	SNP	ENST00000338101.4	37	c.3599T>G	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.187265	0.78789	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000338101	T;T	0.46451	0.87;0.87	4.95	4.95	0.65309	Riboflavin synthase-like beta-barrel (1);FAD-binding, type 1 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.75547	0.3864	H	0.96720	3.87	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.84641	0.0695	10	0.87932	D	0	-42.9417	14.77	0.69668	1.0:0.0:0.0:0.0	.	1200	P29475	NOS1_HUMAN	G	1095;1200;1234	ENSP00000320758:V1200G;ENSP00000337459:V1234G	ENSP00000320758:V1200G	V	-	2	0	NOS1	116149636	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	9.073000	0.93992	2.067000	0.61834	0.482000	0.46254	GTT		PASS	0.612	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			7	18	7	18	---	---	---	---
PIWIL1	9271	broad.mit.edu	37	12	130839091	130839091	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr12:130839091C>A	ENST00000245255.3	+	10	1326	c.1054C>A	c.(1054-1056)Caa>Aaa	p.Q352K		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	352	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.				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.Q352K(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)		GCAATACAACCAAGAGATCAC	0.522																																						uc001uik.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1054-1056)CAA>AAA		piwi-like 1							102.0	106.0	104.0					12																	130839091		2203	4300	6503	SO:0001583	missense	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.chr12:130839091C>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.1054C>A	12.37:g.130839091C>A	ENSP00000245255:p.Gln352Lys					PIWIL1_uc001uij.1_Missense_Mutation_p.Q352K	p.Q352K	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)	10	1144	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		352			PAZ.		A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	37	c.1054C>A	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	C	11.03	1.517574	0.27123	.	.	ENSG00000125207	ENST00000245255	T	0.12984	2.63	5.58	3.53	0.40419	Argonaute/Dicer protein, PAZ (4);	0.477047	0.23485	N	0.047676	T	0.08626	0.0214	N	0.17379	0.485	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.15484	0.013;0.005	T	0.28744	-1.0034	10	0.27082	T	0.32	-17.8406	11.5396	0.50659	0.2164:0.6832:0.1005:0.0	.	352;352	Q96J94;Q96J94-2	PIWL1_HUMAN;.	K	352	ENSP00000245255:Q352K	ENSP00000245255:Q352K	Q	+	1	0	PIWIL1	129405044	0.982000	0.34865	0.998000	0.56505	0.931000	0.56810	2.200000	0.42724	1.331000	0.45412	0.558000	0.71614	CAA		PASS	0.522	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			5	108	5	108	---	---	---	---
RIMBP2	23504	broad.mit.edu	37	12	130935867	130935867	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr12:130935867C>T	ENST00000261655.4	-	5	489	c.326G>A	c.(325-327)gGa>gAa	p.G109E	RIMBP2_ENST00000535703.1_Missense_Mutation_p.G17E|RIMBP2_ENST00000536002.1_Missense_Mutation_p.G17E	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	109					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.G109E(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		AGAGCTGCCTCCAATAGCGCT	0.562																																						uc001uil.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11						c.(325-327)GGA>GAA		RIM-binding protein 2							49.0	46.0	47.0					12																	130935867		2203	4300	6503	SO:0001583	missense	23504					cell junction|synapse		g.chr12:130935867C>T	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.326G>A	12.37:g.130935867C>T	ENSP00000261655:p.Gly109Glu					RIMBP2_uc001uim.2_Missense_Mutation_p.G17E	p.G109E	NM_015347	NP_056162	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	5	490	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	109					Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	c.326G>A	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.058701	0.36277	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.20069	2.1;2.6;2.6	3.95	2.97	0.34412	.	0.455014	0.23342	N	0.049232	T	0.35128	0.0921	M	0.70595	2.14	0.29292	N	0.869264	P;D	0.64830	0.763;0.994	B;P	0.56278	0.382;0.795	T	0.14200	-1.0481	10	0.35671	T	0.21	-7.2065	11.2152	0.48823	0.0:0.8145:0.1855:0.0	.	17;109	O15034-2;O15034	.;RIMB2_HUMAN	E	109;17;17;17	ENSP00000261655:G109E;ENSP00000440347:G17E;ENSP00000439159:G17E	ENSP00000261655:G109E	G	-	2	0	RIMBP2	129501820	0.586000	0.26782	0.024000	0.17045	0.006000	0.05464	2.682000	0.46934	1.756000	0.51951	0.561000	0.74099	GGA		PASS	0.562	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		10	9	10	9	---	---	---	---
MTRF1	9617	broad.mit.edu	37	13	41828703	41828703	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr13:41828703G>T	ENST00000379480.4	-	3	569	c.469C>A	c.(469-471)Caa>Aaa	p.Q157K	MTRF1_ENST00000379477.1_Missense_Mutation_p.Q157K|MTRF1_ENST00000430347.2_Missense_Mutation_p.Q170K|MTRF1_ENST00000239852.6_5'UTR	NM_004294.2	NP_004285.2	O75570	RF1M_HUMAN	mitochondrial translational release factor 1	157					regulation of translational termination (GO:0006449)	mitochondrion (GO:0005739)	translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149)	p.Q157K(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		TCAATGGTTTGCCTTTCTTCC	0.333																																						uc001uxx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(469-471)CAA>AAA		mitochondrial translational release factor 1							259.0	222.0	235.0					13																	41828703		2203	4300	6503	SO:0001583	missense	9617				regulation of translational termination	mitochondrion	translation release factor activity, codon specific	g.chr13:41828703G>T	AF072934	CCDS9378.1	13q14.1-q14.3	2008-07-18			ENSG00000120662	ENSG00000120662			7469	protein-coding gene	gene with protein product	"""mitochontrial peptide chain release factor 1"""	604601				9838146, 10773675	Standard	NM_004294		Approved	RF1, MTTRF1, MGC47721	uc001uxy.3	O75570	OTTHUMG00000016790	ENST00000379480.4:c.469C>A	13.37:g.41828703G>T	ENSP00000368793:p.Gln157Lys					MTRF1_uc001uxy.2_Missense_Mutation_p.Q157K|MTRF1_uc001uxz.2_5'UTR|MTRF1_uc010tff.1_Missense_Mutation_p.Q170K|MTRF1_uc001uyc.1_Missense_Mutation_p.Q157K	p.Q157K	NM_004294	NP_004285	O75570	RF1M_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)	5	939	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)	157					B4DG01|Q5T6Y5|Q8IUQ6	Missense_Mutation	SNP	ENST00000379480.4	37	c.469C>A	CCDS9378.1	.	.	.	.	.	.	.	.	.	.	G	8.449	0.852718	0.17106	.	.	ENSG00000120662	ENST00000379480;ENST00000379477;ENST00000430347;ENST00000452359	T;T;T;T	0.39592	1.07;1.07;1.07;1.07	4.92	1.83	0.25207	Peptide chain release factor (2);	0.684794	0.15310	N	0.269137	T	0.18341	0.0440	N	0.04686	-0.185	0.53688	D	0.999973	B;B	0.30146	0.27;0.101	B;B	0.28385	0.089;0.023	T	0.08027	-1.0742	10	0.06891	T	0.86	-2.9985	11.2577	0.49063	0.0:0.477:0.4113:0.1116	.	170;157	B4DG01;O75570	.;RF1M_HUMAN	K	157;157;170;157	ENSP00000368793:Q157K;ENSP00000368790:Q157K;ENSP00000400031:Q170K;ENSP00000399279:Q157K	ENSP00000368790:Q157K	Q	-	1	0	MTRF1	40726703	0.697000	0.27767	0.977000	0.42913	0.966000	0.64601	0.089000	0.15002	0.524000	0.28502	0.591000	0.81541	CAA		PASS	0.333	MTRF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044666.3	NM_004294		4	23	4	23	---	---	---	---
TSC22D1	8848	broad.mit.edu	37	13	45147368	45147368	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr13:45147368G>T	ENST00000458659.2	-	1	3333	c.2843C>A	c.(2842-2844)gCc>gAc	p.A948D	TSC22D1_ENST00000460842.1_5'UTR|TSC22D1_ENST00000501704.2_Intron	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	948					negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A948D(1)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		AGAAGCAGAGGCTGCTAGGCT	0.537																																						uc001uzn.3																			1	Substitution - Missense(1)		lung(1)		0						c.(2842-2844)GCC>GAC		TSC22 domain family, member 1 isoform 1							75.0	69.0	71.0					13																	45147368		2203	4300	6503	SO:0001583	missense	8848				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:45147368G>T	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.2843C>A	13.37:g.45147368G>T	ENSP00000397435:p.Ala948Asp					TSC22D1_uc001uzo.1_Intron	p.A948D	NM_183422	NP_904358	Q15714	T22D1_HUMAN		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)	1	3334	-		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)	948					B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Missense_Mutation	SNP	ENST00000458659.2	37	c.2843C>A	CCDS31966.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.236727	0.58886	.	.	ENSG00000102804	ENST00000458659	T	0.33438	1.41	5.16	5.16	0.70880	.	0.000000	0.56097	D	0.000022	T	0.36524	0.0970	L	0.29908	0.895	0.80722	D	1	D	0.69078	0.997	D	0.63597	0.916	T	0.02288	-1.1182	10	0.20046	T	0.44	.	11.268	0.49122	0.0826:0.0:0.9174:0.0	.	948	Q15714	T22D1_HUMAN	D	948	ENSP00000397435:A948D	ENSP00000397435:A948D	A	-	2	0	TSC22D1	44045368	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.288000	0.65651	2.679000	0.91253	0.561000	0.74099	GCC		PASS	0.537	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022		9	25	9	25	---	---	---	---
LRCH1	23143	broad.mit.edu	37	13	47275295	47275295	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr13:47275295G>C	ENST00000389798.3	+	11	1550	c.1353G>C	c.(1351-1353)atG>atC	p.M451I	LRCH1_ENST00000311191.6_Missense_Mutation_p.M451I|LRCH1_ENST00000389797.3_Missense_Mutation_p.M451I	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	451								p.M451I(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		ATATAGCAATGATCGAGCAGC	0.378																																						uc001vbj.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(1351-1353)ATG>ATC		leucine-rich repeats and calponin homology (CH)							232.0	193.0	206.0					13																	47275295		2203	4300	6503	SO:0001583	missense	23143							g.chr13:47275295G>C	AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"""calponin homology (CH) domain containing 1"""	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.1353G>C	13.37:g.47275295G>C	ENSP00000374448:p.Met451Ile					LRCH1_uc010acp.2_Missense_Mutation_p.M451I|LRCH1_uc001vbk.2_Missense_Mutation_p.M451I|LRCH1_uc001vbl.3_Missense_Mutation_p.M451I	p.M451I	NM_015116	NP_055931	Q9Y2L9	LRCH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)	11	1589	+		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	451					B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Missense_Mutation	SNP	ENST00000389798.3	37	c.1353G>C	CCDS31972.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.038345	0.35989	.	.	ENSG00000136141	ENST00000311191;ENST00000389798;ENST00000389797	T;T;T	0.54479	0.61;0.66;0.57	6.03	4.24	0.50183	.	0.038975	0.85682	N	0.000000	T	0.67664	0.2917	M	0.73598	2.24	0.40511	D	0.980739	D;D;D;P	0.64830	0.98;0.994;0.988;0.539	D;P;D;B	0.73708	0.958;0.854;0.981;0.057	T	0.66646	-0.5871	10	0.18710	T	0.47	-18.791	12.1322	0.53950	0.0:0.0:0.6912:0.3088	.	451;451;451;451	Q17R43;Q9Y2L9-2;F8W6F0;Q9Y2L9	.;.;.;LRCH1_HUMAN	I	451	ENSP00000308493:M451I;ENSP00000374448:M451I;ENSP00000374447:M451I	ENSP00000308493:M451I	M	+	3	0	LRCH1	46173296	1.000000	0.71417	0.997000	0.53966	0.076000	0.17211	3.379000	0.52440	1.531000	0.49152	-0.182000	0.12963	ATG		PASS	0.378	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2	NM_015116		8	39	8	39	---	---	---	---
KCNRG	283518	broad.mit.edu	37	13	50590025	50590025	+	Silent	SNP	A	A	G			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr13:50590025A>G	ENST00000312942.1	+	1	636	c.396A>G	c.(394-396)acA>acG	p.T132T	TRIM13_ENST00000378182.3_3'UTR|TRIM13_ENST00000478111.1_Intron|KCNRG_ENST00000360473.4_Silent_p.T132T	NM_173605.1	NP_775876.1	Q8N5I3	KCNRG_HUMAN	potassium channel regulator	132					protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)	identical protein binding (GO:0042802)	p.T132T(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)		GCAGCAAAACAATTGAGATGC	0.473																																						uc001vdu.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(394-396)ACA>ACG		potassium channel regulator isoform 1							151.0	140.0	144.0					13																	50590025		2203	4300	6503	SO:0001819	synonymous_variant	283518					voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity	g.chr13:50590025A>G		CCDS9424.1, CCDS41889.1	13q14.11	2008-05-02			ENSG00000198553	ENSG00000198553			18893	protein-coding gene	gene with protein product							Standard	NM_173605		Approved		uc001vdu.3	Q8N5I3	OTTHUMG00000140140	ENST00000312942.1:c.396A>G	13.37:g.50590025A>G						DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|KCNRG_uc001vdt.2_Silent_p.T132T|TRIM13_uc001vdp.1_3'UTR|TRIM13_uc001vdq.1_3'UTR|TRIM13_uc001vdr.1_3'UTR|TRIM13_uc001vds.1_3'UTR	p.T132T	NM_173605	NP_775876	Q8N5I3	KCNRG_HUMAN		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)	1	636	+		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	132					A2A2X9|Q0P6D0|Q8IU75|Q8N3Q9	Silent	SNP	ENST00000312942.1	37	c.396A>G	CCDS9424.1																																																																																				PASS	0.473	KCNRG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276308.1			47	82	47	82	---	---	---	---
RNASEH2B	79621	broad.mit.edu	37	13	51501612	51501612	+	Missense_Mutation	SNP	C	C	T	rs575985863		TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr13:51501612C>T	ENST00000336617.3	+	2	533	c.134C>T	c.(133-135)tCa>tTa	p.S45L	RNASEH2B_ENST00000422660.1_Missense_Mutation_p.S45L	NM_024570.3	NP_078846.2	Q5TBB1	RNH2B_HUMAN	ribonuclease H2, subunit B	45					in utero embryonic development (GO:0001701)|negative regulation of gene expression (GO:0010629)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of DNA damage checkpoint (GO:2000001)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|ribonucleotide metabolic process (GO:0009259)|RNA catabolic process (GO:0006401)	nucleus (GO:0005634)|ribonuclease H2 complex (GO:0032299)	RNA-DNA hybrid ribonuclease activity (GO:0004523)	p.S45L(1)		endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;9e-08)		AACCCCTGTTCAGGTAAGTTC	0.308													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18520	0.0		0.0	False		,,,				2504	0.0					uc001vfa.3																			1	Substitution - Missense(1)		lung(1)		0						c.(133-135)TCA>TTA		ribonuclease H2, subunit B isoform 1							155.0	158.0	157.0					13																	51501612		2203	4300	6503	SO:0001583	missense	79621				RNA catabolic process	nucleus|ribonuclease H2 complex		g.chr13:51501612C>T	AK021774	CCDS9425.1, CCDS45047.1	13q14.3	2014-09-17	2006-08-17	2006-08-17	ENSG00000136104	ENSG00000136104			25671	protein-coding gene	gene with protein product		610326	"""deleted in lymphocytic leukemia 8"", ""Aicardi-Goutieres syndrome 2"""	DLEU8, AGS2		16845400	Standard	NM_001142279		Approved	FLJ11712	uc001vfa.4	Q5TBB1	OTTHUMG00000016937	ENST00000336617.3:c.134C>T	13.37:g.51501612C>T	ENSP00000337623:p.Ser45Leu					RNASEH2B_uc001vfb.3_Missense_Mutation_p.S45L	p.S45L	NM_024570	NP_078846	Q5TBB1	RNH2B_HUMAN		GBM - Glioblastoma multiforme(99;9e-08)	2	455	+		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)	45					G3XAJ1|Q05DR2|Q6PK48|Q9HAF7	Missense_Mutation	SNP	ENST00000336617.3	37	c.134C>T	CCDS9425.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.817353	0.32145	.	.	ENSG00000136104	ENST00000336617;ENST00000539292;ENST00000422660	D;D	0.96200	-3.94;-3.94	5.05	4.21	0.49690	.	0.128958	0.50627	D	0.000113	D	0.93307	0.7867	M	0.73962	2.25	0.42978	D	0.99445	P;P	0.49862	0.912;0.929	B;B	0.38562	0.25;0.276	D	0.91398	0.5141	10	0.37606	T	0.19	-4.8656	10.9785	0.47480	0.0:0.9133:0.0:0.0867	.	45;45	G3XAJ1;Q5TBB1	.;RNH2B_HUMAN	L	45	ENSP00000337623:S45L;ENSP00000389877:S45L	ENSP00000337623:S45L	S	+	2	0	RNASEH2B	50399613	1.000000	0.71417	0.994000	0.49952	0.059000	0.15707	3.053000	0.49901	1.128000	0.42052	0.467000	0.42956	TCA		PASS	0.308	RNASEH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045006.3	NM_024570		10	49	10	49	---	---	---	---
KLHL1	57626	broad.mit.edu	37	13	70456529	70456529	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr13:70456529A>T	ENST00000377844.4	-	5	1872	c.1113T>A	c.(1111-1113)gaT>gaA	p.D371E	KLHL1_ENST00000545028.1_Missense_Mutation_p.D178E	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	371					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)	p.D371E(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TGGTTTCTTCATCAGGAACAT	0.418																																						uc001vip.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1111-1113)GAT>GAA		kelch-like 1 protein							155.0	127.0	137.0					13																	70456529		2203	4300	6503	SO:0001583	missense	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70456529A>T	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.1113T>A	13.37:g.70456529A>T	ENSP00000367075:p.Asp371Glu					KLHL1_uc010thm.1_Missense_Mutation_p.D310E	p.D371E	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	5	1907	-		Breast(118;0.000162)	371					A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	c.1113T>A	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	A	15.01	2.707395	0.48412	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	T;T	0.68331	-0.32;-0.32	4.89	3.7	0.42460	BTB/Kelch-associated (2);	0.000000	0.64402	D	0.000003	T	0.49508	0.1561	N	0.16201	0.385	0.35075	D	0.762827	B;B	0.32324	0.364;0.05	B;B	0.34931	0.192;0.135	T	0.59820	-0.7382	10	0.54805	T	0.06	.	10.5507	0.45087	0.9228:0.0:0.0772:0.0	.	371;371	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	E	371;178	ENSP00000367075:D371E;ENSP00000439602:D178E	ENSP00000367075:D371E	D	-	3	2	KLHL1	69354530	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.794000	0.55492	0.821000	0.34540	0.482000	0.46254	GAT		PASS	0.418	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		30	35	30	35	---	---	---	---
TBC1D4	9882	broad.mit.edu	37	13	75936518	75936518	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr13:75936518C>T	ENST00000377636.3	-	2	1070	c.724G>A	c.(724-726)Gag>Aag	p.E242K	TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000431480.2_Missense_Mutation_p.E242K|TBC1D4_ENST00000377625.2_Missense_Mutation_p.E242K	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	242					cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)	p.E242K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		CCGCGCTGCTCCCCTTGGATC	0.647																																						uc001vjl.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(724-726)GAG>AAG		TBC1 domain family, member 4							64.0	67.0	66.0					13																	75936518		2062	4202	6264	SO:0001583	missense	9882					cytoplasm	Rab GTPase activator activity	g.chr13:75936518C>T	AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.724G>A	13.37:g.75936518C>T	ENSP00000366863:p.Glu242Lys					TBC1D4_uc010aer.2_Missense_Mutation_p.E242K|TBC1D4_uc010aes.2_Missense_Mutation_p.E242K	p.E242K	NM_014832	NP_055647	O60343	TBCD4_HUMAN		GBM - Glioblastoma multiforme(99;0.0116)	2	1071	-		Prostate(6;0.014)|Breast(118;0.0982)	242					A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Missense_Mutation	SNP	ENST00000377636.3	37	c.724G>A	CCDS41901.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.010116	0.35415	.	.	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625	T;T;T	0.04234	3.71;3.71;3.67	5.06	5.06	0.68205	Phosphotyrosine interaction domain (1);	0.100124	0.42682	D	0.000677	T	0.11367	0.0277	L	0.56769	1.78	0.80722	D	1	B;P;D	0.59357	0.059;0.828;0.985	B;P;P	0.51170	0.064;0.477;0.661	T	0.32561	-0.9902	10	0.15499	T	0.54	-14.9003	18.4307	0.90624	0.0:1.0:0.0:0.0	.	242;242;242	O60343-2;O60343-3;O60343	.;.;TBCD4_HUMAN	K	242	ENSP00000366863:E242K;ENSP00000395986:E242K;ENSP00000366852:E242K	ENSP00000366852:E242K	E	-	1	0	TBC1D4	74834519	1.000000	0.71417	0.928000	0.36995	0.425000	0.31504	5.361000	0.66092	2.354000	0.79902	0.563000	0.77884	GAG		PASS	0.647	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832		9	42	9	42	---	---	---	---
NALCN	259232	broad.mit.edu	37	13	101763536	101763536	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr13:101763536C>T	ENST00000251127.6	-	19	2315	c.2234G>A	c.(2233-2235)gGg>gAg	p.G745E		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	745					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.G745E(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)					TGCGGGCTGCCCCTCAAATGA	0.488																																						uc001vox.1																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(2233-2235)GGG>GAG		voltage gated channel like 1							126.0	119.0	121.0					13																	101763536		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101763536C>T	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.2234G>A	13.37:g.101763536C>T	ENSP00000251127:p.Gly745Glu						p.G745E	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			19	2423	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		745			Cytoplasmic (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.2234G>A	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.155386	0.57259	.	.	ENSG00000102452	ENST00000251127	D	0.97430	-4.38	5.4	5.4	0.78164	.	0.048705	0.85682	D	0.000000	D	0.93061	0.7791	N	0.22421	0.69	0.80722	D	1	P	0.34934	0.476	B	0.32533	0.147	D	0.92032	0.5634	10	0.11794	T	0.64	.	19.1765	0.93604	0.0:1.0:0.0:0.0	.	745	Q8IZF0	NALCN_HUMAN	E	745	ENSP00000251127:G745E	ENSP00000251127:G745E	G	-	2	0	NALCN	100561537	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.298000	0.78815	2.538000	0.85594	0.650000	0.86243	GGG		PASS	0.488	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		45	48	45	48	---	---	---	---
OR4K15	81127	broad.mit.edu	37	14	20443959	20443959	+	Silent	SNP	C	C	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr14:20443959C>T	ENST00000305051.5	+	1	357	c.282C>T	c.(280-282)gaC>gaT	p.D94D		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	94						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D94D(2)		endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CATTTATAGACGTATGTGTTG	0.453																																						uc010tkx.1																			2	Substitution - coding silent(2)		lung(1)|prostate(1)	ovary(1)	1						c.(280-282)GAC>GAT		olfactory receptor, family 4, subfamily K,							107.0	119.0	115.0					14																	20443959		2203	4298	6501	SO:0001819	synonymous_variant	81127				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20443959C>T		CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"""GPCR / Class A : Olfactory receptors"""	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.282C>T	14.37:g.20443959C>T							p.D94D	NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	282	+	all_cancers(95;0.00108)		94			Helical; Name=2; (Potential).		B9EIL3|Q6IEZ4	Silent	SNP	ENST00000305051.5	37	c.282C>T	CCDS32026.1																																																																																				PASS	0.453	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409883.1			44	42	44	42	---	---	---	---
OR4K13	390433	broad.mit.edu	37	14	20502611	20502611	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr14:20502611A>T	ENST00000315693.2	-	1	308	c.307T>A	c.(307-309)Ttt>Att	p.F103I	AL359218.1_ENST00000580563.1_RNA	NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	103						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F103I(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AGGTGCATAAAGAACATCTGG	0.453																																						uc010tkz.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(307-309)TTT>ATT		olfactory receptor, family 4, subfamily K,							88.0	87.0	87.0					14																	20502611		2203	4300	6503	SO:0001583	missense	390433				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20502611A>T		CCDS32028.1	14q11.2	2013-09-23			ENSG00000176253	ENSG00000176253		"""GPCR / Class A : Olfactory receptors"""	15351	protein-coding gene	gene with protein product							Standard	NM_001004714		Approved		uc010tkz.2	Q8NH42	OTTHUMG00000170781	ENST00000315693.2:c.307T>A	14.37:g.20502611A>T	ENSP00000319322:p.Phe103Ile						p.F103I	NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	1	307	-	all_cancers(95;0.00108)		103			Helical; Name=3; (Potential).		Q6IF13	Missense_Mutation	SNP	ENST00000315693.2	37	c.307T>A	CCDS32028.1	.	.	.	.	.	.	.	.	.	.	.	14.29	2.491780	0.44249	.	.	ENSG00000176253	ENST00000315693	T	0.00500	6.96	3.64	3.64	0.41730	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40640	U	0.001059	T	0.00906	0.0030	M	0.78916	2.43	0.29145	N	0.878785	D	0.58268	0.982	P	0.48598	0.583	T	0.35025	-0.9805	10	0.56958	D	0.05	.	11.3583	0.49627	1.0:0.0:0.0:0.0	.	103	Q8NH42	OR4KD_HUMAN	I	103	ENSP00000319322:F103I	ENSP00000319322:F103I	F	-	1	0	OR4K13	19572451	0.004000	0.15560	0.983000	0.44433	0.050000	0.14768	0.965000	0.29319	1.523000	0.49018	0.438000	0.28831	TTT		PASS	0.453	OR4K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410344.1			49	54	49	54	---	---	---	---
FANCM	57697	broad.mit.edu	37	14	45668130	45668130	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr14:45668130G>T	ENST00000267430.5	+	22	6085	c.6000G>T	c.(5998-6000)atG>atT	p.M2000I	FANCM_ENST00000542564.2_Missense_Mutation_p.M1974I	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	2000	Interaction with FAAP24 and EME1.				DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)	p.M2000I(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TGAAAAGGATGGCTAACAGGT	0.284								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc001wwd.3																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(2)|breast(2)	7						c.(5998-6000)ATG>ATT	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group M							37.0	41.0	39.0					14																	45668130		2203	4299	6502	SO:0001583	missense	57697	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45668130G>T	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.6000G>T	14.37:g.45668130G>T	ENSP00000267430:p.Met2000Ile					FANCM_uc010anf.2_Missense_Mutation_p.M1974I|FANCM_uc001wwe.3_Missense_Mutation_p.M1536I|FANCM_uc010ang.2_Missense_Mutation_p.M1249I	p.M2000I	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN			22	6099	+			2000			Interaction with FAAP24 and EME1.		B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	c.6000G>T	CCDS32070.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.66|18.66	3.671798|3.671798	0.67928|0.67928	.|.	.|.	ENSG00000187790|ENSG00000187790	ENST00000554809|ENST00000267430;ENST00000542564;ENST00000556250	.|T;T;T	.|0.10099	.|2.91;2.91;2.91	5.58|5.58	5.58|5.58	0.84498|0.84498	.|RuvA domain 2-like (1);	.|0.049370	.|0.85682	.|D	.|0.000000	T|T	0.31670|0.31670	0.0804|0.0804	M|M	0.72894|0.72894	2.215|2.215	0.36227|0.36227	D|D	0.852355|0.852355	.|D;D	.|0.69078	.|0.997;0.996	.|D;P	.|0.73380	.|0.98;0.874	T|T	0.17198|0.17198	-1.0377|-1.0377	5|10	.|0.48119	.|T	.|0.1	.|.	14.8659|14.8659	0.70416|0.70416	0.0:0.0:0.8557:0.1443|0.0:0.0:0.8557:0.1443	.|.	.|1974;2000	.|B2RTQ9;Q8IYD8	.|.;FANCM_HUMAN	C|I	968|2000;1974;1516	.|ENSP00000267430:M2000I;ENSP00000442493:M1974I;ENSP00000452033:M1516I	.|ENSP00000267430:M2000I	G|M	+|+	1|3	0|0	FANCM|FANCM	44737880|44737880	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.995000|0.995000	0.86356|0.86356	4.846000|4.846000	0.62860|0.62860	2.612000|2.612000	0.88384|0.88384	0.563000|0.563000	0.77884|0.77884	GGC|ATG		PASS	0.284	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		11	8	11	8	---	---	---	---
RPL10L	140801	broad.mit.edu	37	14	47120363	47120363	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr14:47120363C>T	ENST00000298283.3	-	1	665	c.577G>A	c.(577-579)Gat>Aat	p.D193N		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	193					spermatogenesis (GO:0007283)|translation (GO:0006412)	cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	structural constituent of ribosome (GO:0003735)	p.D193N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						CCACAACCATCAGGGATGAGG	0.517																																						uc001wwg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(577-579)GAT>AAT		ribosomal protein L10-like protein							88.0	84.0	85.0					14																	47120363		2203	4300	6503	SO:0001583	missense	140801				spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome	g.chr14:47120363C>T	AB063608	CCDS32071.1	14q21.2	2011-09-15			ENSG00000165496	ENSG00000165496		"""L ribosomal proteins"""	17976	protein-coding gene	gene with protein product						19123937	Standard	NM_080746		Approved		uc001wwg.3	Q96L21	OTTHUMG00000157869	ENST00000298283.3:c.577G>A	14.37:g.47120363C>T	ENSP00000298283:p.Asp193Asn						p.D193N	NM_080746	NP_542784	Q96L21	RL10L_HUMAN			1	666	-			193					Q8IUD1	Missense_Mutation	SNP	ENST00000298283.3	37	c.577G>A	CCDS32071.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745005	0.49151	.	.	ENSG00000165496	ENST00000298283	T	0.73789	-0.78	4.57	4.57	0.56435	.	0.052011	0.85682	N	0.000000	D	0.83862	0.5346	M	0.87180	2.865	0.80722	D	1	P	0.41643	0.758	P	0.50352	0.638	D	0.86363	0.1718	10	0.66056	D	0.02	-35.0962	15.6671	0.77238	0.0:1.0:0.0:0.0	.	193	Q96L21	RL10L_HUMAN	N	193	ENSP00000298283:D193N	ENSP00000298283:D193N	D	-	1	0	RPL10L	46190113	1.000000	0.71417	0.700000	0.30305	0.245000	0.25701	6.924000	0.75823	2.824000	0.97209	0.655000	0.94253	GAT		PASS	0.517	RPL10L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349819.1			57	38	57	38	---	---	---	---
PELI2	57161	broad.mit.edu	37	14	56757088	56757088	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr14:56757088C>A	ENST00000267460.4	+	5	896	c.610C>A	c.(610-612)Cag>Aag	p.Q204K		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	204					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein phosphorylation (GO:0001934)|protein ubiquitination (GO:0016567)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)	ligase activity (GO:0016874)	p.Q204K(1)		kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						CGAGGAGTCCCAGCCCGGGGT	0.587																																						uc001xch.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(610-612)CAG>AAG		pellino 2							97.0	104.0	101.0					14																	56757088		2203	4300	6503	SO:0001583	missense	57161				innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding	g.chr14:56757088C>A	AF302502	CCDS9726.1	14q21	2012-02-23	2012-02-23		ENSG00000139946	ENSG00000139946		"""Pellino homologs"""	8828	protein-coding gene	gene with protein product		614798	"""pellino (Drosophila) homolog 2"", ""pellino homolog 2 (Drosophila)"""			11306823, 12860405	Standard	XM_006720211		Approved		uc001xch.3	Q9HAT8	OTTHUMG00000152336	ENST00000267460.4:c.610C>A	14.37:g.56757088C>A	ENSP00000267460:p.Gln204Lys						p.Q204K	NM_021255	NP_067078	Q9HAT8	PELI2_HUMAN			5	896	+			204					B2RDY5	Missense_Mutation	SNP	ENST00000267460.4	37	c.610C>A	CCDS9726.1	.	.	.	.	.	.	.	.	.	.	C	7.064	0.567055	0.13560	.	.	ENSG00000139946	ENST00000267460	T	0.38077	1.16	5.51	3.36	0.38483	.	0.143570	0.64402	D	0.000009	T	0.07143	0.0181	N	0.00268	-1.735	0.31452	N	0.670571	B	0.02656	0.0	B	0.01281	0.0	T	0.35025	-0.9805	10	0.02654	T	1	-22.9724	7.9043	0.29752	0.4232:0.462:0.1148:0.0	.	204	Q9HAT8	PELI2_HUMAN	K	204	ENSP00000267460:Q204K	ENSP00000267460:Q204K	Q	+	1	0	PELI2	55826841	0.990000	0.36364	1.000000	0.80357	0.951000	0.60555	2.592000	0.46171	2.598000	0.87819	0.561000	0.74099	CAG		PASS	0.587	PELI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276925.1			44	72	44	72	---	---	---	---
DYNC1H1	1778	broad.mit.edu	37	14	102460520	102460520	+	Splice_Site	SNP	G	G	C			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr14:102460520G>C	ENST00000360184.4	+	12	3179		c.e12-1			NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.?(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TGGTTGGCTAGGTGGGTGTAC	0.403																																						uc001yks.2																			1	Unknown(1)		lung(1)	ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.e12-1		cytoplasmic dynein 1 heavy chain 1							251.0	228.0	236.0					14																	102460520		2203	4300	6503	SO:0001630	splice_region_variant	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102460520G>C	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.3016-1G>C	14.37:g.102460520G>C							p.V1006_splice	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			12	3180	+								B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Splice_Site	SNP	ENST00000360184.4	37	c.3016_splice	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.898343	0.91962	.	.	ENSG00000197102	ENST00000360184	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0011	0.97409	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DYNC1H1	101530273	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	9.826000	0.99387	2.735000	0.93741	0.557000	0.71058	.		PASS	0.403	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376	Intron	39	92	39	92	---	---	---	---
DYNC1H1	1778	broad.mit.edu	37	14	102460647	102460647	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr14:102460647G>C	ENST00000360184.4	+	12	3306	c.3142G>C	c.(3142-3144)Gaa>Caa	p.E1048Q		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1048	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.E1048Q(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ATCTGAAGTTGAACAGTATGT	0.398																																						uc001yks.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.(3142-3144)GAA>CAA		cytoplasmic dynein 1 heavy chain 1							198.0	180.0	186.0					14																	102460647		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102460647G>C	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.3142G>C	14.37:g.102460647G>C	ENSP00000348965:p.Glu1048Gln						p.E1048Q	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			12	3306	+			1048			Stem (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.3142G>C	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.036458	0.35893	.	.	ENSG00000197102	ENST00000360184	T	0.76316	-1.01	5.78	5.78	0.91487	.	0.050948	0.85682	D	0.000000	T	0.64000	0.2559	N	0.13043	0.29	0.80722	D	1	B	0.13145	0.007	B	0.09377	0.004	T	0.59825	-0.7381	10	0.10636	T	0.68	.	20.0011	0.97409	0.0:0.0:1.0:0.0	.	1048	Q14204	DYHC1_HUMAN	Q	1048	ENSP00000348965:E1048Q	ENSP00000348965:E1048Q	E	+	1	0	DYNC1H1	101530400	1.000000	0.71417	0.953000	0.39169	0.303000	0.27691	9.826000	0.99387	2.735000	0.93741	0.557000	0.71058	GAA		PASS	0.398	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		36	63	36	63	---	---	---	---
IGHV4-34	28395	broad.mit.edu	37	14	106829997	106829997	+	RNA	SNP	G	G	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr14:106829997G>T	ENST00000390616.2	-	0	79									immunoglobulin heavy variable 4-34																		GCTGCCACCAGGAGGAGGAAG	0.502																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							77.0	71.0	72.0					14																	106829997		1916	4125	6041			8755							g.chr14:106829997G>T	X92278		14q32.33	2012-02-08			ENSG00000211956	ENSG00000211956		"""Immunoglobulins / IGH locus"""	5650	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152074		14.37:g.106829997G>T						uc001ysx.1_Intron								323		-									RNA	SNP	ENST00000390616.2	37	c.12508C>A																																																																																					PASS	0.502	IGHV4-34-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325168.1	NG_001019		5	65	5	65	---	---	---	---
NDN	4692	broad.mit.edu	37	15	23931855	23931855	+	Silent	SNP	C	C	G			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr15:23931855C>G	ENST00000331837.4	-	1	595	c.510G>C	c.(508-510)gcG>gcC	p.A170A		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	170	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A170A(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CGGGCTCCAGCGCTTTGACCA	0.652									Prader-Willi syndrome																													uc001ywk.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(508-510)GCG>GCC		necdin							25.0	25.0	25.0					15																	23931855		2203	4300	6503	SO:0001819	synonymous_variant	4692	Prader-Willi_syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	g.chr15:23931855C>G	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"""Prader-Willi syndrome chromosome region"""	602117	"""necdin (mouse) homolog"", ""necdin homolog (mouse)"""			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.510G>C	15.37:g.23931855C>G							p.A170A	NM_002487	NP_002478	Q99608	NECD_HUMAN		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)	1	596	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)	170			MAGE.		B2R6Z5	Silent	SNP	ENST00000331837.4	37	c.510G>C	CCDS10014.1																																																																																				PASS	0.652	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2	NM_002487		7	16	7	16	---	---	---	---
RNF111	54778	broad.mit.edu	37	15	59323210	59323210	+	Missense_Mutation	SNP	A	A	C	rs201703137		TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr15:59323210A>C	ENST00000557998.1	+	2	476	c.189A>C	c.(187-189)gaA>gaC	p.E63D	RNF111_ENST00000561186.1_Missense_Mutation_p.E63D|RNF111_ENST00000559209.1_Missense_Mutation_p.E63D|RNF111_ENST00000348370.4_Missense_Mutation_p.E63D|RNF111_ENST00000434298.1_Missense_Mutation_p.E63D	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	63					gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|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 SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E63D(2)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		TGGGGAATGAATTCTCTCACC	0.418																																					NSCLC(72;983 1365 10746 34387 47081)	uc002afv.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(187-189)GAA>GAC		ring finger protein 111							85.0	84.0	84.0					15																	59323210		2192	4292	6484	SO:0001583	missense	54778				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:59323210A>C	AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"""RING-type (C3HC4) zinc fingers"""	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.189A>C	15.37:g.59323210A>C	ENSP00000452732:p.Glu63Asp					RNF111_uc002afs.2_Missense_Mutation_p.E63D|RNF111_uc002aft.2_Missense_Mutation_p.E63D|RNF111_uc002afu.2_Missense_Mutation_p.E63D|RNF111_uc002afw.2_Missense_Mutation_p.E63D	p.E63D	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN		all cancers(107;0.194)	2	468	+			63					C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Missense_Mutation	SNP	ENST00000557998.1	37	c.189A>C	CCDS58366.1	.	.	.	.	.	.	.	.	.	.	A	9.753	1.167993	0.21621	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	T;T	0.14266	2.52;2.53	5.58	1.76	0.24704	.	0.180058	0.51477	N	0.000090	T	0.06781	0.0173	N	0.17474	0.49	0.43688	D	0.996133	B;B;B	0.16166	0.016;0.009;0.016	B;B;B	0.14578	0.011;0.005;0.011	T	0.30650	-0.9971	10	0.35671	T	0.21	-13.5492	4.214	0.10526	0.4294:0.3363:0.2343:0.0	.	63;63;63	Q6ZNA4-3;Q6ZNA4;Q6ZNA4-2	.;RN111_HUMAN;.	D	63	ENSP00000288199:E63D;ENSP00000393641:E63D	ENSP00000288199:E63D	E	+	3	2	RNF111	57110502	0.987000	0.35691	1.000000	0.80357	0.904000	0.53231	0.338000	0.19858	0.392000	0.25172	-0.515000	0.04445	GAA		PASS	0.418	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1	NM_017610		5	48	5	48	---	---	---	---
KIF23	9493	broad.mit.edu	37	15	69715541	69715541	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr15:69715541G>C	ENST00000260363.4	+	7	724	c.607G>C	c.(607-609)Gaa>Caa	p.E203Q	KIF23_ENST00000395392.2_Missense_Mutation_p.E203Q|KIF23_ENST00000352331.4_Missense_Mutation_p.E203Q|KIF23_ENST00000537891.1_Missense_Mutation_p.E6Q|KIF23_ENST00000558585.1_Missense_Mutation_p.E6Q|KIF23_ENST00000559279.1_Missense_Mutation_p.E203Q	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	203	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)	p.E203Q(1)		central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						AACTGTACAAGAATTCTGCAA	0.284																																						uc002asb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(607-609)GAA>CAA		kinesin family member 23 isoform 1							82.0	92.0	89.0					15																	69715541		2199	4298	6497	SO:0001583	missense	9493				blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding	g.chr15:69715541G>C	X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"""Kinesins"""	6392	protein-coding gene	gene with protein product		605064	"""kinesin-like 5 (mitotic kinesin-like protein 1)"""	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.607G>C	15.37:g.69715541G>C	ENSP00000260363:p.Glu203Gln					KIF23_uc002asc.2_Missense_Mutation_p.E203Q|KIF23_uc010bii.2_Missense_Mutation_p.E93Q|KIF23_uc010ukc.1_Missense_Mutation_p.E6Q|KIF23_uc010bih.1_RNA	p.E203Q	NM_138555	NP_612565	Q02241	KIF23_HUMAN			7	724	+			203			Kinesin-motor.		Q8WVP0	Missense_Mutation	SNP	ENST00000260363.4	37	c.607G>C	CCDS32278.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.663356	0.88251	.	.	ENSG00000137807	ENST00000260363;ENST00000352331;ENST00000395392;ENST00000537891	T;T;T;T	0.77750	-0.93;-0.9;-0.93;-1.12	5.53	5.53	0.82687	Kinesin, motor domain (3);	0.092067	0.64402	D	0.000001	D	0.84097	0.5397	L	0.49455	1.56	0.80722	D	1	D;P;P	0.54397	0.966;0.933;0.909	P;P;P	0.61592	0.891;0.461;0.771	T	0.83150	-0.0104	10	0.45353	T	0.12	.	18.3923	0.90487	0.0:0.0:1.0:0.0	.	6;203;203	B4E1K0;Q02241-2;Q02241	.;.;KIF23_HUMAN	Q	203;203;203;6	ENSP00000260363:E203Q;ENSP00000304978:E203Q;ENSP00000378790:E203Q;ENSP00000442969:E6Q	ENSP00000260363:E203Q	E	+	1	0	KIF23	67502595	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	6.432000	0.73400	2.749000	0.94314	0.655000	0.94253	GAA		PASS	0.284	KIF23-201	KNOWN	basic|CCDS	protein_coding	protein_coding				29	60	29	60	---	---	---	---
BBS4	585	broad.mit.edu	37	15	73028217	73028217	+	Silent	SNP	C	C	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr15:73028217C>T	ENST00000268057.4	+	14	1199	c.1158C>T	c.(1156-1158)ggC>ggT	p.G386G	BBS4_ENST00000395205.2_Silent_p.G394G|BBS4_ENST00000542334.1_Silent_p.G214G|BBS4_ENST00000539603.1_Silent_p.G374G	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	386	Required for localization to centrosomes.				adult behavior (GO:0030534)|brain morphogenesis (GO:0048854)|centrosome organization (GO:0051297)|cerebral cortex development (GO:0021987)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|dendrite development (GO:0016358)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|maintenance of protein location in nucleus (GO:0051457)|melanosome transport (GO:0032402)|metabolic process (GO:0008152)|microtubule anchoring at centrosome (GO:0034454)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of systemic arterial blood pressure (GO:0003085)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of cilium assembly (GO:0045724)|positive regulation of multicellular organism growth (GO:0040018)|protein localization to centrosome (GO:0071539)|protein localization to organelle (GO:0033365)|protein transport (GO:0015031)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of cytokinesis (GO:0032465)|regulation of lipid metabolic process (GO:0019216)|retina homeostasis (GO:0001895)|retinal rod cell development (GO:0046548)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)|spermatid development (GO:0007286)|striatum development (GO:0021756)|visual perception (GO:0007601)	BBSome (GO:0034464)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary membrane (GO:0060170)|cilium (GO:0005929)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|dynactin binding (GO:0034452)|microtubule motor activity (GO:0003777)|RNA polymerase II repressing transcription factor binding (GO:0001103)	p.G386G(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						ACAACCAGGGCGAGAAGAAGA	0.483									Bardet-Biedl syndrome																													uc002avb.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1156-1158)GGC>GGT		Bardet-Biedl syndrome 4							139.0	135.0	136.0					15																	73028217		2198	4297	6495	SO:0001819	synonymous_variant	585	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity	g.chr15:73028217C>T	AF090947	CCDS10246.1, CCDS58377.1	15q22.3-q23	2013-01-10			ENSG00000140463	ENSG00000140463		"""Tetratricopeptide (TTC) repeat domain containing"""	969	protein-coding gene	gene with protein product		600374				7711739, 11381270	Standard	NM_033028		Approved		uc002avb.3	Q96RK4	OTTHUMG00000133510	ENST00000268057.4:c.1158C>T	15.37:g.73028217C>T						BBS4_uc010ukv.1_Silent_p.G374G|BBS4_uc002avc.2_Silent_p.G214G|BBS4_uc002avd.2_Silent_p.G394G	p.G386G	NM_033028	NP_149017	Q96RK4	BBS4_HUMAN			14	1201	+			386			TPR 10.|Required for localization to centrosomes.		B4E178|Q53DZ5|Q8NHU9|Q96H45	Silent	SNP	ENST00000268057.4	37	c.1158C>T	CCDS10246.1																																																																																				PASS	0.483	BBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257473.2	NM_033028		11	129	11	129	---	---	---	---
KIAA0430	9665	broad.mit.edu	37	16	15730188	15730188	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr16:15730188C>A	ENST00000396368.3	-	3	362	c.156G>T	c.(154-156)atG>atT	p.M52I	KIAA0430_ENST00000540441.2_Missense_Mutation_p.M52I|KIAA0430_ENST00000551742.1_Missense_Mutation_p.M52I|KIAA0430_ENST00000548025.1_Missense_Mutation_p.M52I|KIAA0430_ENST00000602337.1_Missense_Mutation_p.M52I|KIAA0430_ENST00000344181.3_5'UTR	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	52					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.M52I(1)		breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TCTTGTTCTCCATGTACTCTT	0.388																																						uc002ddr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(154-156)ATG>ATT		limkain b1							102.0	99.0	100.0					16																	15730188		1877	4112	5989	SO:0001583	missense	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15730188C>A	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.156G>T	16.37:g.15730188C>A	ENSP00000379654:p.Met52Ile					KIAA0430_uc002ddq.2_Missense_Mutation_p.M51I|KIAA0430_uc010uzv.1_Missense_Mutation_p.M51I|KIAA0430_uc010uzw.1_Missense_Mutation_p.M51I|KIAA0430_uc010uzx.1_Missense_Mutation_p.M51I	p.M52I	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN			3	349	-			51					A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	ENST00000396368.3	37	c.156G>T	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	C	23.3	4.405565	0.83230	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000548025;ENST00000551742;ENST00000551298;ENST00000549219	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.67887	0.2941	L	0.32530	0.975	0.80722	D	1	D;D;D;D;D	0.71674	0.998;0.979;0.979;0.979;0.965	D;P;P;P;P	0.65684	0.937;0.725;0.725;0.725;0.535	T	0.70464	-0.4864	9	0.87932	D	0	-21.1994	19.6383	0.95746	0.0:1.0:0.0:0.0	.	51;51;52;51;51	Q9Y4F3-6;Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;.;LKAP_HUMAN	I	52;52;51;52;52;52;52	.	ENSP00000315718:M51I	M	-	3	0	KIAA0430	15637689	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.798000	0.75155	2.631000	0.89168	0.655000	0.94253	ATG		PASS	0.388	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		4	64	4	64	---	---	---	---
GTF3C1	2975	broad.mit.edu	37	16	27495561	27495561	+	Silent	SNP	G	G	A			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr16:27495561G>A	ENST00000356183.4	-	25	3987	c.3972C>T	c.(3970-3972)gtC>gtT	p.V1324V	GTF3C1_ENST00000561623.1_Silent_p.V1324V	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1324					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.V1324V(1)		breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GTGGGTTTTTGACTATGTAGC	0.488																																						uc002dov.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(3970-3972)GTC>GTT		general transcription factor IIIC, polypeptide							140.0	128.0	132.0					16																	27495561		2197	4300	6497	SO:0001819	synonymous_variant	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27495561G>A	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.3972C>T	16.37:g.27495561G>A						GTF3C1_uc002dou.2_Silent_p.V1324V	p.V1324V	NM_001520	NP_001511	Q12789	TF3C1_HUMAN			25	4012	-			1324					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Silent	SNP	ENST00000356183.4	37	c.3972C>T	CCDS32414.1																																																																																				PASS	0.488	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		22	67	22	67	---	---	---	---
RNF40	9810	broad.mit.edu	37	16	30773931	30773931	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr16:30773931T>C	ENST00000324685.6	+	2	500	c.65T>C	c.(64-66)cTg>cCg	p.L22P	C16orf93_ENST00000543610.1_5'UTR|C16orf93_ENST00000541260.1_5'Flank|RNF40_ENST00000563683.1_Missense_Mutation_p.L22P|RNF40_ENST00000357890.5_Missense_Mutation_p.L22P|RNF40_ENST00000402121.3_Missense_Mutation_p.L22P|C16orf93_ENST00000545825.1_5'Flank	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	22					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L22P(1)		central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			GAAAAGAAGCTGAGTCGTGAG	0.632																																						uc002dzq.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(64-66)CTG>CCG		ring finger protein 40							38.0	33.0	35.0					16																	30773931		2197	4300	6497	SO:0001583	missense	9810				histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding	g.chr16:30773931T>C	AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"""RING-type (C3HC4) zinc fingers"""	16867	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"""	607700	"""ring finger protein 40"""			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.65T>C	16.37:g.30773931T>C	ENSP00000325677:p.Leu22Pro					C16orf93_uc002dzm.2_5'Flank|C16orf93_uc002dzn.2_5'Flank|C16orf93_uc002dzo.2_5'Flank|C16orf93_uc002dzp.2_5'Flank|RNF40_uc010caa.2_Missense_Mutation_p.L22P|RNF40_uc010cab.2_Missense_Mutation_p.L22P|RNF40_uc010vfa.1_Intron|RNF40_uc002dzr.2_Missense_Mutation_p.L22P|RNF40_uc010vfb.1_Missense_Mutation_p.L22P	p.L22P	NM_014771	NP_055586	O75150	BRE1B_HUMAN	Colorectal(24;0.198)		2	188	+			22					Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Missense_Mutation	SNP	ENST00000324685.6	37	c.65T>C	CCDS10691.1	.	.	.	.	.	.	.	.	.	.	T	15.15	2.748497	0.49257	.	.	ENSG00000103549	ENST00000324685;ENST00000357890;ENST00000402121	T;T;T	0.30714	1.52;1.52;1.52	5.55	4.41	0.53225	.	0.362369	0.29410	N	0.012225	T	0.15132	0.0365	N	0.17082	0.46	0.37306	D	0.908929	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.001	T	0.16571	-1.0398	10	0.30078	T	0.28	-10.372	3.2963	0.06968	0.1865:0.1646:0.0:0.6488	.	22;22;22;22	F8W8Z4;O75150-4;A8K6K1;O75150	.;.;.;BRE1B_HUMAN	P	22	ENSP00000325677:L22P;ENSP00000350563:L22P;ENSP00000384942:L22P	ENSP00000325677:L22P	L	+	2	0	RNF40	30681432	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.572000	0.36461	2.333000	0.79357	0.533000	0.62120	CTG		PASS	0.632	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255524.2	NM_014771		3	25	3	25	---	---	---	---
ATP2C2	9914	broad.mit.edu	37	16	84492924	84492924	+	Silent	SNP	G	G	T	rs181099197	byFrequency	TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr16:84492924G>T	ENST00000262429.4	+	23	2354	c.2265G>T	c.(2263-2265)ctG>ctT	p.L755L	ATP2C2_ENST00000420010.2_3'UTR|RP11-517C16.2_ENST00000565700.1_RNA|ATP2C2_ENST00000416219.2_Silent_p.L755L	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	755					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.L755L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						TGTTCAACCTGCCCAGCCCCC	0.647													G|||	7	0.00139776	0.0045	0.0	5008	,	,		18023	0.001		0.0	False		,,,				2504	0.0					uc002fhx.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(2263-2265)CTG>CTT		ATPase, Ca++ transporting, type 2C, member 2		G		5,4159		0,5,2077	69.0	78.0	75.0		2265	3.7	1.0	16		75	0,8410		0,0,4205	no	coding-synonymous	ATP2C2	NM_014861.2		0,5,6282	TT,TG,GG		0.0,0.1201,0.0398		755/947	84492924	5,12569	2082	4205	6287	SO:0001819	synonymous_variant	9914				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr16:84492924G>T	AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"""ATPases / P-type"""	29103	protein-coding gene	gene with protein product	"""secretory pathway calcium ATPase 2"""	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.2265G>T	16.37:g.84492924G>T						ATP2C2_uc010chj.2_Silent_p.L755L|ATP2C2_uc002fhy.2_Silent_p.L772L|ATP2C2_uc002fhz.2_Silent_p.L604L|ATP2C2_uc002fia.2_5'Flank	p.L755L	NM_014861	NP_055676	O75185	AT2C2_HUMAN			23	2354	+			755			Helical; Name=6; (Potential).		B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Silent	SNP	ENST00000262429.4	37	c.2265G>T	CCDS42207.1																																																																																				PASS	0.647	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	NM_014861		15	35	15	35	---	---	---	---
IL17C	27189	broad.mit.edu	37	16	88705514	88705514	+	Silent	SNP	C	C	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr16:88705514C>T	ENST00000244241.4	+	2	181	c.132C>T	c.(130-132)ctC>ctT	p.L44L		NM_013278.3	NP_037410.1	Q9P0M4	IL17C_HUMAN	interleukin 17C	44					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|neutrophil differentiation (GO:0030223)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)	p.L44L(1)		large_intestine(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0477)		AACTGCCCCTCGGCCAGGCCC	0.687																																						uc002fla.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(130-132)CTC>CTT		interleukin 17C precursor							46.0	54.0	51.0					16																	88705514		1983	4140	6123	SO:0001819	synonymous_variant	27189				cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response	extracellular space|soluble fraction	cytokine activity	g.chr16:88705514C>T	AF152099	CCDS42217.1	16q24	2011-07-14			ENSG00000124391	ENSG00000124391		"""Interleukins and interleukin receptors"""	5983	protein-coding gene	gene with protein product		604628				10639155	Standard	NM_013278		Approved	IL-17C, CX2, IL-21, MGC126884, MGC138401	uc002fla.3	Q9P0M4		ENST00000244241.4:c.132C>T	16.37:g.88705514C>T							p.L44L	NM_013278	NP_037410	Q9P0M4	IL17C_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0477)	2	181	+			44					Q3MIG8|Q9HC75	Silent	SNP	ENST00000244241.4	37	c.132C>T	CCDS42217.1																																																																																				PASS	0.687	IL17C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422575.1	NM_013278		23	17	23	17	---	---	---	---
RPL13	6137	broad.mit.edu	37	16	89628749	89628749	+	Missense_Mutation	SNP	G	G	A	rs140485395		TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr16:89628749G>A	ENST00000393099.3	+	4	676	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	RPL13_ENST00000567815.1_Missense_Mutation_p.E143K|RPL13_ENST00000311528.5_Missense_Mutation_p.E143K|RPL13_ENST00000452368.3_Missense_Mutation_p.E96K|SNORD68_ENST00000363214.1_RNA	NM_033251.2	NP_150254.1	P26373	RL13_HUMAN	ribosomal protein L13	143					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|cytosolic ribosome (GO:0022626)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.E143K(1)		lung(3)|skin(1)|upper_aerodigestive_tract(2)	6		all_hematologic(23;0.0748)		all cancers(4;1.15e-07)|OV - Ovarian serous cystadenocarcinoma(4;7.8e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0139)		ACAGGCTGAAGAACTGAAACT	0.562																																						uc002fnm.1																			1	Substitution - Missense(1)		lung(1)		0						c.(427-429)GAA>AAA		ribosomal protein L13		G	LYS/GLU,LYS/GLU	0,4396		0,0,2198	54.0	53.0	53.0		427,427	4.4	1.0	16	dbSNP_134	53	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RPL13	NM_000977.3,NM_033251.2	56,56	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	143/212,143/212	89628749	1,12995	2198	4300	6498	SO:0001583	missense	6137				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic ribosome	protein binding|RNA binding|structural constituent of ribosome	g.chr16:89628749G>A	AB007172	CCDS10979.1, CCDS58492.1	16q24.3	2011-04-06			ENSG00000167526	ENSG00000167526		"""L ribosomal proteins"""	10303	protein-coding gene	gene with protein product		113703				9582194	Standard	NM_000977		Approved	D16S444E, BBC1, L13	uc002fnm.2	P26373	OTTHUMG00000133770	ENST00000393099.3:c.427G>A	16.37:g.89628749G>A	ENSP00000376811:p.Glu143Lys					RPL13_uc010vpj.1_Missense_Mutation_p.E96K|RPL13_uc002fnn.1_Missense_Mutation_p.E143K|RPL13_uc002fno.1_3'UTR	p.E143K	NM_000977	NP_000968	P26373	RL13_HUMAN		all cancers(4;1.15e-07)|OV - Ovarian serous cystadenocarcinoma(4;7.8e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0139)	5	478	+		all_hematologic(23;0.0748)	143					B4DLX3|F5H1S2|Q3KQT8|Q567Q8|Q9BPX0	Missense_Mutation	SNP	ENST00000393099.3	37	c.427G>A	CCDS10979.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.209304	0.79240	0.0	1.16E-4	ENSG00000167526	ENST00000311528;ENST00000452368;ENST00000393099	T;T;T	0.34859	1.34;1.34;1.34	4.36	4.36	0.52297	.	0.000000	0.85682	U	0.000000	T	0.63117	0.2484	M	0.87328	2.875	0.80722	D	1	P;P	0.52577	0.526;0.954	B;P	0.62014	0.29;0.897	T	0.71692	-0.4516	10	0.66056	D	0.02	-11.285	16.248	0.82460	0.0:0.0:1.0:0.0	.	96;143	F5H1S2;P26373	.;RL13_HUMAN	K	143;96;143	ENSP00000307889:E143K;ENSP00000438959:E96K;ENSP00000376811:E143K	ENSP00000307889:E143K	E	+	1	0	RPL13	88156250	1.000000	0.71417	0.999000	0.59377	0.027000	0.11550	9.415000	0.97375	2.132000	0.65825	0.448000	0.29417	GAA		PASS	0.562	RPL13-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258294.2	NM_000977		22	14	22	14	---	---	---	---
OR1E2	8388	broad.mit.edu	37	17	3336248	3336248	+	Silent	SNP	G	G	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr17:3336248G>T	ENST00000248384.1	-	1	887	c.888C>A	c.(886-888)ccC>ccA	p.P296P		NM_003554.1	NP_003545.1	P47887	OR1E2_HUMAN	olfactory receptor, family 1, subfamily E, member 2	296					sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|receptor activity (GO:0004872)	p.P296P(1)		endometrium(3)|large_intestine(3)|lung(3)	9						TGTAGATGAAGGGGGTCAGCA	0.458																																						uc010vre.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(886-888)CCC>CCA		olfactory receptor, family 1, subfamily E,							79.0	71.0	74.0					17																	3336248		2203	4300	6503	SO:0001819	synonymous_variant	8388				sensory perception of smell	integral to plasma membrane	olfactory receptor activity	g.chr17:3336248G>T	U04686	CCDS11026.1	17p13.3	2012-08-09			ENSG00000127780	ENSG00000127780		"""GPCR / Class A : Olfactory receptors"""	8190	protein-coding gene	gene with protein product				OR1E4		8004088, 9500546	Standard	NM_003554		Approved	OR17-93, OR17-135	uc010vre.2	P47887	OTTHUMG00000090651	ENST00000248384.1:c.888C>A	17.37:g.3336248G>T							p.P296P	NM_003554	NP_003545	P47887	OR1E2_HUMAN			1	888	-			296			Helical; Name=7; (Potential).		O43877|O95632|Q0VAD5|Q0VAD6|Q9UL13	Silent	SNP	ENST00000248384.1	37	c.888C>A	CCDS11026.1																																																																																				PASS	0.458	OR1E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207311.1			39	33	39	33	---	---	---	---
USP6	9098	broad.mit.edu	37	17	5048769	5048769	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr17:5048769C>G	ENST00000574788.1	+	27	4292	c.2062C>G	c.(2062-2064)Caa>Gaa	p.Q688E	USP6_ENST00000304328.5_Missense_Mutation_p.Q371E|USP6_ENST00000250066.6_Missense_Mutation_p.Q688E|USP6_ENST00000332776.4_Missense_Mutation_p.Q688E			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	688	USP.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)	p.Q688E(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GCTAAGATCTCAAGTCAAATG	0.378			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																	uc002gau.1				Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	COL1A1|CDH11|ZNF9|OMD		aneurysmal bone cysts		2	Substitution - Missense(2)		lung(2)	skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5						c.(2062-2064)CAA>GAA		ubiquitin specific protease 6							138.0	124.0	129.0					17																	5048769		2203	4300	6503	SO:0001583	missense	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5048769C>G	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.2062C>G	17.37:g.5048769C>G	ENSP00000460380:p.Gln688Glu					USP6_uc002gav.1_Missense_Mutation_p.Q688E|USP6_uc010ckz.1_Missense_Mutation_p.Q371E	p.Q688E	NM_004505	NP_004496	P35125	UBP6_HUMAN			27	4292	+			688					Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	c.2062C>G	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	C	11.47	1.647670	0.29246	.	.	ENSG00000129204	ENST00000332776;ENST00000250066;ENST00000304328	T;T;T	0.29397	1.57;1.57;1.57	2.36	2.36	0.29203	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.39009	0.1062	L	0.31926	0.97	0.51482	D	0.999929	D;B	0.58268	0.982;0.347	D;B	0.70227	0.968;0.361	T	0.12344	-1.0551	10	0.42905	T	0.14	.	10.4264	0.44380	0.0:1.0:0.0:0.0	.	371;688	P35125-2;P35125	.;UBP6_HUMAN	E	688;688;371	ENSP00000328010:Q688E;ENSP00000250066:Q688E;ENSP00000305473:Q371E	ENSP00000250066:Q688E	Q	+	1	0	USP6	4989493	1.000000	0.71417	1.000000	0.80357	0.682000	0.39822	4.713000	0.61895	1.318000	0.45170	0.194000	0.17425	CAA		PASS	0.378	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		28	35	28	35	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577092	7577093	+	Missense_Mutation	DNP	CC	CC	GT			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr17:7577092_7577093CC>GT	ENST00000269305.4	-	8	1034_1035	c.845_846GG>AC	c.(844-846)cGG>cAC	p.R282H	TP53_ENST00000455263.2_Missense_Mutation_p.R282H|TP53_ENST00000359597.4_Missense_Mutation_p.R282H|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R282H|TP53_ENST00000420246.2_Missense_Mutation_p.R282H	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	282	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|Ref.22}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934574). {ECO:0000269|PubMed:8829627}.		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.R282Q(27)|p.R282P(17)|p.0?(8)|p.R282R(7)|p.R282L(3)|p.R282H(3)|p.R282fs*24(3)|p.R283fs*63(2)|p.D281fs*63(2)|p.?(2)|p.A276_R283delACPGRDRR(1)|p.R283del(1)|p.R283fs*62(1)|p.R282_E287delRRTEEE(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.C275fs*20(1)|p.D281_R282delDR(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)	CCTCTGTGCGCCGGTCTCTCCC	0.559		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		86	Substitution - Missense(50)|Whole gene deletion(8)|Deletion - In frame(7)|Substitution - coding silent(7)|Insertion - Frameshift(5)|Deletion - Frameshift(4)|Unknown(2)|Complex - frameshift(2)|Complex - deletion inframe(1)	p.R282W(365)|p.R282G(26)|p.R282Q(20)|p.R282P(14)|p.R282R(8)|p.0?(7)|p.R282L(3)|p.R283fs*63(2)|p.D281fs*63(2)|p.?(2)|p.R282fs*24(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.R283del(1)|p.R282_E287delRRTEEE(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.R282H(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R282fs*63(1)|p.C275fs*20(1)|p.D281_R282delDR(1)|p.R282W(365)|p.R282G(26)|p.R282Q(21)|p.R282P(14)|p.R282R(8)|p.0?(7)|p.R282L(3)|p.D281fs*63(2)|p.?(2)|p.R282fs*24(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.R283fs*62(1)|p.R282_E287delRRTEEE(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.R282H(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R282fs*63(1)|p.C275fs*20(1)|p.D281_R282delDR(1)	large_intestine(12)|upper_aerodigestive_tract(10)|lung(10)|haematopoietic_and_lymphoid_tissue(9)|bone(7)|ovary(6)|oesophagus(5)|breast(4)|pancreas(4)|central_nervous_system(3)|urinary_tract(3)|skin(3)|stomach(2)|liver(2)|autonomic_ganglia(2)|vulva(1)|soft_tissue(1)|peritoneum(1)|prostate(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	CM004344	TP53	M		c.(844-846)CGG>CGC|c.(844-846)CGG>CAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a																																				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.chr17:7577092C>G|g.chr17:7577093C>T	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.845_846delinsGT	17.37:g.7577092_7577093delinsGT	ENSP00000269305:p.Arg282His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Silent_p.R282R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Silent_p.R150R|TP53_uc010cng.1_Silent_p.R150R|TP53_uc002gii.1_Silent_p.R150R|TP53_uc010cnh.1_Silent_p.R282R|TP53_uc010cni.1_Silent_p.R282R|TP53_uc002gij.2_Silent_p.R282R|TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R282Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R150Q|TP53_uc010cng.1_Missense_Mutation_p.R150Q|TP53_uc002gii.1_Missense_Mutation_p.R150Q|TP53_uc010cnh.1_Missense_Mutation_p.R282Q|TP53_uc010cni.1_Missense_Mutation_p.R282Q|TP53_uc002gij.2_Missense_Mutation_p.R282Q	p.R282R|p.R282Q	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1040|1039	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	282		R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Silent|Missense_Mutation	SNP	ENST00000269305.4	37	c.846G>C|c.845G>A	CCDS11118.1																																																																																				PASS	0.559	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		8|7	14	7	14	---	---	---	---
PIGS	94005	broad.mit.edu	37	17	26885558	26885558	+	Silent	SNP	G	G	A			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr17:26885558G>A	ENST00000308360.7	-	8	1245	c.870C>T	c.(868-870)tcC>tcT	p.S290S	PIGS_ENST00000395346.2_Silent_p.S282S|PIGS_ENST00000465444.1_5'UTR|PIGS_ENST00000543734.1_Silent_p.S229S	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	290					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)	p.S290S(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					AGTAGCTGGAGGAAGCTGAGT	0.478																																						uc002hbo.2																			1	Substitution - coding silent(1)		lung(1)	breast(2)|urinary_tract(1)|kidney(1)	4						c.(868-870)TCC>TCT		phosphatidylinositol glycan anchor biosynthesis,							69.0	60.0	63.0					17																	26885558		2203	4300	6503	SO:0001819	synonymous_variant	94005				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding	g.chr17:26885558G>A		CCDS11235.1	17p13.2	2013-02-26	2006-06-28		ENSG00000087111	ENSG00000087111		"""Phosphatidylinositol glycan anchor biosynthesis"""	14937	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610271	"""phosphatidylinositol glycan, class S"""				Standard	NM_033198		Approved		uc002hbo.2	Q96S52	OTTHUMG00000132604	ENST00000308360.7:c.870C>T	17.37:g.26885558G>A						PIGS_uc002hbn.2_Silent_p.S282S|PIGS_uc010wap.1_Silent_p.S229S	p.S290S	NM_033198	NP_149975	Q96S52	PIGS_HUMAN			8	1243	-	Lung NSC(42;0.00431)		290			Lumenal (Potential).		Q6UVX6	Silent	SNP	ENST00000308360.7	37	c.870C>T	CCDS11235.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.293229	0.23564	.	.	ENSG00000087111	ENST00000268758	.	.	.	5.83	-3.44	0.04796	.	.	.	.	.	T	0.46405	0.1391	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54166	-0.8334	5	0.59425	D	0.04	-20.4418	1.5012	0.02477	0.301:0.0841:0.3171:0.2978	.	.	.	.	L	33	.	ENSP00000268758:P33L	P	-	2	0	PIGS	23909685	0.981000	0.34729	0.994000	0.49952	0.942000	0.58702	0.109000	0.15417	-0.163000	0.10946	-0.291000	0.09656	CCT		PASS	0.478	PIGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255833.3	NM_033198		5	24	5	24	---	---	---	---
RASL10B	91608	broad.mit.edu	37	17	34068269	34068269	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr17:34068269A>G	ENST00000268864.3	+	4	934	c.557A>G	c.(556-558)cAc>cGc	p.H186R		NM_033315.3	NP_201572.1	Q96S79	RSLAB_HUMAN	RAS-like, family 10, member B	186	Small GTPase-like.				GTP catabolic process (GO:0006184)|positive regulation of peptide hormone secretion (GO:0090277)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)	p.H186R(1)		breast(2)|endometrium(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AAGCACGTGCACGCTGCCCTG	0.692																																						uc002hju.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|breast(2)	4						c.(556-558)CAC>CGC		RAS-like, family 10, member B precursor							36.0	24.0	28.0					17																	34068269		2200	4299	6499	SO:0001583	missense	91608				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	g.chr17:34068269A>G	BC041133	CCDS11297.1	17q21.1	2014-05-09			ENSG00000141150	ENSG00000270885			30295	protein-coding gene	gene with protein product		612128				12477932	Standard	NM_033315		Approved	VTS58635, RRP17	uc002hju.3	Q96S79	OTTHUMG00000188385	ENST00000268864.3:c.557A>G	17.37:g.34068269A>G	ENSP00000268864:p.His186Arg						p.H186R	NM_033315	NP_201572	Q96S79	RSLAB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	4	923	+			186			Small GTPase-like.		B3KV31	Missense_Mutation	SNP	ENST00000268864.3	37	c.557A>G	CCDS11297.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.471557	0.84533	.	.	ENSG00000141150	ENST00000268864	D	0.85955	-2.05	5.39	4.31	0.51392	.	0.000000	0.64402	D	0.000006	D	0.82421	0.5033	L	0.47716	1.5	0.52501	D	0.999956	D	0.60160	0.987	P	0.50708	0.648	T	0.78277	-0.2266	10	0.16420	T	0.52	.	9.928	0.41505	0.9202:0.0:0.0798:0.0	.	186	Q96S79	RSLAB_HUMAN	R	186	ENSP00000268864:H186R	ENSP00000268864:H186R	H	+	2	0	RASL10B	31092382	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.888000	0.92464	2.036000	0.60181	0.459000	0.35465	CAC		PASS	0.692	RASL10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256498.2	NM_033315		5	10	5	10	---	---	---	---
DUSP14	11072	broad.mit.edu	37	17	35872857	35872857	+	Silent	SNP	C	C	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr17:35872857C>T	ENST00000487847.1	+	2	1461	c.483C>T	c.(481-483)taC>taT	p.Y161Y	DUSP14_ENST00000394386.1_Silent_p.Y161Y|DUSP14_ENST00000394389.4_Silent_p.Y161Y			O95147	DUS14_HUMAN	dual specificity phosphatase 14	161					peptidyl-tyrosine dephosphorylation (GO:0035335)		MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|poly(A) RNA binding (GO:0044822)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.Y161Y(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	9		Breast(25;0.00637)|Ovarian(249;0.15)				TGATAGACTACGAGCGCCAGC	0.537																																						uc002hnx.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(481-483)TAC>TAT		dual specificity phosphatase 14							57.0	56.0	56.0					17																	35872857		2203	4300	6503	SO:0001819	synonymous_variant	11072						MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr17:35872857C>T	AF038844	CCDS11320.1	17q12	2014-05-06			ENSG00000161326	ENSG00000276023		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	17007	protein-coding gene	gene with protein product	"""MKP-1 like protein tyrosine phosphatase"""	606618				11123293	Standard	XM_005256977		Approved	MKP-L, MKP6	uc002hnx.2	O95147	OTTHUMG00000188472	ENST00000487847.1:c.483C>T	17.37:g.35872857C>T						DUSP14_uc002hny.2_Silent_p.Y148Y|DUSP14_uc002hnz.2_Silent_p.Y148Y	p.Y161Y	NM_007026	NP_008957	O95147	DUS14_HUMAN			3	777	+		Breast(25;0.00637)|Ovarian(249;0.15)	161						Silent	SNP	ENST00000487847.1	37	c.483C>T	CCDS11320.1																																																																																				PASS	0.537	DUSP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256680.3	NM_007026		15	44	15	44	---	---	---	---
WNK4	65266	broad.mit.edu	37	17	40948204	40948204	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr17:40948204C>A	ENST00000246914.5	+	17	3516	c.3495C>A	c.(3493-3495)agC>agA	p.S1165R	CNTD1_ENST00000588527.1_5'Flank|CNTD1_ENST00000588408.1_5'Flank	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	1165					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)	p.S1153R(1)|p.S1165R(1)		NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		ATTTGTACAGCCGGCTGGGGA	0.592																																					Esophageal Squamous(6;201 374 4964 23855 42828)	uc002ibj.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(3)|stomach(1)	7						c.(3493-3495)AGC>AGA		WNK lysine deficient protein kinase 4							35.0	42.0	40.0					17																	40948204		2203	4300	6503	SO:0001583	missense	65266				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	g.chr17:40948204C>A	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.3495C>A	17.37:g.40948204C>A	ENSP00000246914:p.Ser1165Arg					WNK4_uc010wgx.1_Missense_Mutation_p.S829R|CCDC56_uc010wgz.1_Intron|CNTD1_uc002ibm.3_5'Flank|CNTD1_uc010wha.1_5'Flank	p.S1165R	NM_032387	NP_115763	Q96J92	WNK4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	17	3516	+		Breast(137;0.000143)	1165					B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	ENST00000246914.5	37	c.3495C>A	CCDS11439.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.704178	0.30232	.	.	ENSG00000126562	ENST00000246914	T	0.70516	-0.49	4.61	3.63	0.41609	.	0.246207	0.28828	N	0.014012	T	0.45915	0.1366	N	0.16368	0.405	0.80722	D	1	B	0.31125	0.309	B	0.23574	0.047	T	0.28808	-1.0032	10	0.13853	T	0.58	-3.7378	6.8725	0.24129	0.0:0.6741:0.158:0.1679	.	1165	Q96J92	WNK4_HUMAN	R	1165	ENSP00000246914:S1165R	ENSP00000246914:S1165R	S	+	3	2	WNK4	38201730	0.961000	0.32948	1.000000	0.80357	0.971000	0.66376	0.660000	0.25009	1.152000	0.42452	0.555000	0.69702	AGC		PASS	0.592	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			11	50	11	50	---	---	---	---
HDAC5	10014	broad.mit.edu	37	17	42162413	42162413	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr17:42162413T>C	ENST00000393622.2	-	15	2492	c.2161A>G	c.(2161-2163)Aca>Gca	p.T721A	HDAC5_ENST00000586802.1_Missense_Mutation_p.T721A|HDAC5_ENST00000336057.5_Intron|HDAC5_ENST00000225983.6_Missense_Mutation_p.T722A	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	721	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|inflammatory response (GO:0006954)|multicellular organismal response to stress (GO:0033555)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression, epigenetic (GO:0040029)|regulation of myotube differentiation (GO:0010830)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|histone deacetylase complex (GO:0000118)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.T721A(1)		central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		AGCAGGCCTGTCTCCTGCAGC	0.552																																						uc002ifd.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2161-2163)ACA>GCA		histone deacetylase 5 isoform 1							76.0	66.0	70.0					17																	42162413		2203	4300	6503	SO:0001583	missense	10014				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	g.chr17:42162413T>C	AF249731	CCDS32663.1, CCDS45696.1	17q21	2008-07-18					3.5.1.98		14068	protein-coding gene	gene with protein product		605315				10220385, 9610721	Standard	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	Q9UQL6		ENST00000393622.2:c.2161A>G	17.37:g.42162413T>C	ENSP00000377244:p.Thr721Ala					HDAC5_uc002ife.1_Missense_Mutation_p.T721A|HDAC5_uc002iff.1_Missense_Mutation_p.T722A|HDAC5_uc010czp.1_Intron|HDAC5_uc002ifg.1_Missense_Mutation_p.T31A|HDAC5_uc002ifh.2_Missense_Mutation_p.T721A	p.T721A	NM_005474	NP_005465	Q9UQL6	HDAC5_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.118)	15	2372	-		Breast(137;0.00637)|Prostate(33;0.0313)	721			Histone deacetylase.		C9JFV9|O60340|O60528|Q96DY4	Missense_Mutation	SNP	ENST00000393622.2	37	c.2161A>G	CCDS45696.1	.	.	.	.	.	.	.	.	.	.	T	18.13	3.554770	0.65425	.	.	ENSG00000108840	ENST00000225983;ENST00000393622	T;T	0.69306	-0.39;-0.39	5.24	5.24	0.73138	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	T	0.61438	0.2347	L	0.42008	1.315	0.80722	D	1	B;B;B	0.16396	0.007;0.017;0.012	B;B;B	0.29942	0.109;0.031;0.052	T	0.57027	-0.7881	10	0.27785	T	0.31	-8.3083	14.1357	0.65287	0.0:0.0:0.0:1.0	.	721;722;721	B4DGT4;Q9UQL6-3;Q9UQL6	.;.;HDAC5_HUMAN	A	722;721	ENSP00000225983:T722A;ENSP00000377244:T721A	ENSP00000225983:T722A	T	-	1	0	HDAC5	39517939	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.224000	0.58593	1.983000	0.57843	0.459000	0.35465	ACA		PASS	0.552	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457686.1	NM_001015053		14	40	14	40	---	---	---	---
MRPL10	124995	broad.mit.edu	37	17	45901685	45901685	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr17:45901685G>T	ENST00000351111.2	-	5	677	c.672C>A	c.(670-672)caC>caA	p.H224Q	MRPL10_ENST00000414011.1_Missense_Mutation_p.H234Q|MRPL10_ENST00000290208.7_Missense_Mutation_p.H234Q|OSBPL7_ENST00000392507.3_5'Flank|OSBPL7_ENST00000007414.3_5'Flank	NM_145255.3	NP_660298.2	Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10	224					ribosome biogenesis (GO:0042254)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.H224Q(1)		endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						GGAGGGGCTGGTGCTGGAGCA	0.602																																						uc002ilz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(670-672)CAC>CAA		mitochondrial ribosomal protein L10 precursor							82.0	66.0	71.0					17																	45901685		2203	4300	6503	SO:0001583	missense	124995				ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr17:45901685G>T	AB051618	CCDS11516.1, CCDS11517.1	17q21.3	2012-09-13			ENSG00000159111	ENSG00000159111		"""Mitochondrial ribosomal proteins / large subunits"""	14055	protein-coding gene	gene with protein product	"""39S ribosomal protein L10, mitochondrial"""	611825				11551941	Standard	NM_148887		Approved	RPML8, MRP-L8, L10MT, MRP-L10, MRPL8, MGC17973	uc002ily.3	Q7Z7H8	OTTHUMG00000156302	ENST00000351111.2:c.672C>A	17.37:g.45901685G>T	ENSP00000324100:p.His224Gln					OSBPL7_uc002ilx.1_5'Flank|MRPL10_uc010wky.1_Missense_Mutation_p.H185Q|MRPL10_uc002ily.2_Missense_Mutation_p.H234Q	p.H224Q	NM_145255	NP_660298	Q7Z7H8	RM10_HUMAN			5	698	-			224					A6NGJ4|Q96B80|Q96Q55	Missense_Mutation	SNP	ENST00000351111.2	37	c.672C>A	CCDS11516.1	.	.	.	.	.	.	.	.	.	.	G	5.468	0.271327	0.10349	.	.	ENSG00000159111	ENST00000351111;ENST00000290208;ENST00000414011	T;T;T	0.40225	1.04;1.04;1.04	5.0	1.71	0.24356	.	0.326123	0.37669	N	0.001983	T	0.33147	0.0853	L	0.55103	1.725	0.48452	D	0.999651	B;B	0.18741	0.03;0.011	B;B	0.12837	0.008;0.008	T	0.10753	-1.0616	10	0.15952	T	0.53	0.3461	10.2421	0.43319	0.0798:0.542:0.3782:0.0	.	224;234	Q7Z7H8;A6NGJ4	RM10_HUMAN;.	Q	224;234;234	ENSP00000324100:H224Q;ENSP00000290208:H234Q;ENSP00000395870:H234Q	ENSP00000290208:H234Q	H	-	3	2	MRPL10	43256684	0.997000	0.39634	0.998000	0.56505	0.505000	0.33919	1.323000	0.33701	0.104000	0.17725	0.491000	0.48974	CAC		PASS	0.602	MRPL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343764.1	NM_145255		5	32	5	32	---	---	---	---
CDK5RAP3	80279	broad.mit.edu	37	17	46056209	46056209	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr17:46056209G>T	ENST00000338399.4	+	11	1109	c.1003G>T	c.(1003-1005)Gcc>Tcc	p.A335S	RP11-6N17.10_ENST00000578239.1_RNA|CDK5RAP3_ENST00000536708.2_Missense_Mutation_p.A360S|CDK5RAP3_ENST00000578663.1_3'UTR	NM_176096.1	NP_788276.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	335					brain development (GO:0007420)|protein ufmylation (GO:0071569)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of neuron differentiation (GO:0045664)	membrane (GO:0016020)	protein kinase binding (GO:0019901)	p.A335S(1)		NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						AGAAGGTGTTGCCAGGGGCCC	0.517											OREG0024508	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002imr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1003-1005)GCC>TCC		CDK5 regulatory subunit associated protein 3							86.0	80.0	82.0					17																	46056209		1907	4144	6051	SO:0001583	missense	80279				brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding	g.chr17:46056209G>T	AF110322	CCDS42356.1, CCDS62232.1	17q21.2	2008-07-18				ENSG00000108465			18673	protein-coding gene	gene with protein product	"""ischemic heart CDK5 activator-binding protein C53"", ""LXXLL/leucine-zipper-containing ARFbinding protein"""	608202				10721722	Standard	NM_176096		Approved	MST016, FLJ13660, C53, IC53, HSF-27, OK/SW-cl.114, LZAP	uc010wlc.3	Q96JB5		ENST00000338399.4:c.1003G>T	17.37:g.46056209G>T	ENSP00000344683:p.Ala335Ser		OREG0024508	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	936	CDK5RAP3_uc010wlc.1_Missense_Mutation_p.A355S|CDK5RAP3_uc002imq.1_Missense_Mutation_p.A110S|CDK5RAP3_uc002imu.2_Missense_Mutation_p.A179S|CDK5RAP3_uc002ims.2_Missense_Mutation_p.A248S|CDK5RAP3_uc002imv.2_Missense_Mutation_p.A179S|CDK5RAP3_uc002imw.2_Missense_Mutation_p.A177S|CDK5RAP3_uc002imx.2_Missense_Mutation_p.A110S	p.A335S	NM_176096	NP_788276	Q96JB5	CK5P3_HUMAN			11	1087	+			335					B7Z6N4|D3DTU1|D3DTU2|F5H3I5|Q53FA2|Q9H3F8|Q9H8G0|Q9HBR9	Missense_Mutation	SNP	ENST00000338399.4	37	c.1003G>T	CCDS42356.1	.	.	.	.	.	.	.	.	.	.	G	33	5.199933	0.94997	.	.	ENSG00000108465	ENST00000536708;ENST00000338399	T;T	0.53423	0.62;0.62	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.74535	0.3729	M	0.90542	3.125	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.995;0.999;1.0	T	0.77264	-0.2652	10	0.42905	T	0.14	-4.6678	17.6235	0.88088	0.0:0.0:1.0:0.0	.	360;248;335;110	F5H3I5;Q96JB5-2;Q96JB5;Q96JB5-3	.;.;CK5P3_HUMAN;.	S	360;335	ENSP00000438886:A360S;ENSP00000344683:A335S	ENSP00000344683:A335S	A	+	1	0	CDK5RAP3	43411208	1.000000	0.71417	0.989000	0.46669	0.981000	0.71138	8.630000	0.90987	2.684000	0.91462	0.655000	0.94253	GCC		PASS	0.517	CDK5RAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442913.1	NM_176096		11	46	11	46	---	---	---	---
UBE2Z	65264	broad.mit.edu	37	17	47004450	47004450	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr17:47004450G>T	ENST00000360943.5	+	7	1154	c.1019G>T	c.(1018-1020)aGt>aTt	p.S340I		NM_023079.4	NP_075567.2	Q9H832	UBE2Z_HUMAN	ubiquitin-conjugating enzyme E2Z	340					apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)	p.S232I(1)									TCTGATAGCAGTTCATCTGGG	0.532																																						uc002ioi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1018-1020)AGT>ATT		ubiquitin-conjugating enzyme E2Z							82.0	72.0	75.0					17																	47004450		2203	4300	6503	SO:0001583	missense	65264				apoptosis	cytoplasm|nucleus	ATP binding|ubiquitin-protein ligase activity	g.chr17:47004450G>T	BC015890	CCDS11540.2	17q21.32	2010-01-14	2007-07-18		ENSG00000159202	ENSG00000159202		"""Ubiquitin-conjugating enzymes E2"""	25847	protein-coding gene	gene with protein product	"""UBA6-specific enzyme E2"""	611362				17597759	Standard	NM_023079		Approved	FLJ13855, USE1	uc002ioi.3	Q9H832	OTTHUMG00000150521	ENST00000360943.5:c.1019G>T	17.37:g.47004450G>T	ENSP00000354201:p.Ser340Ile						p.S340I	NM_023079	NP_075567	Q9H832	UBE2Z_HUMAN			7	1118	+			340					A6N8M6|A6NC60|Q7L354|Q8TCM4|Q9H893	Missense_Mutation	SNP	ENST00000360943.5	37	c.1019G>T	CCDS11540.2	.	.	.	.	.	.	.	.	.	.	G	24.9	4.582074	0.86748	.	.	ENSG00000159202	ENST00000360943;ENST00000405215	T	0.74632	-0.86	5.5	5.5	0.81552	.	0.081063	0.85682	D	0.000000	D	0.85296	0.5664	M	0.67953	2.075	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	D	0.83635	0.0147	10	0.42905	T	0.14	-7.2988	19.2517	0.93926	0.0:0.0:1.0:0.0	.	340	Q9H832	UBE2Z_HUMAN	I	340;273	ENSP00000354201:S340I	ENSP00000354201:S340I	S	+	2	0	UBE2Z	44359449	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.100000	0.94213	2.880000	0.98712	0.650000	0.86243	AGT		PASS	0.532	UBE2Z-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318724.2	NM_023079		23	28	23	28	---	---	---	---
MPO	4353	broad.mit.edu	37	17	56348128	56348128	+	Silent	SNP	G	G	A			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr17:56348128G>A	ENST00000225275.3	-	12	2303	c.2127C>T	c.(2125-2127)atC>atT	p.I709I	MPO_ENST00000340482.3_Silent_p.I741I	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	709					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.I709I(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	ACACGGTGGTGATGCCTGTGT	0.547																																						uc002ivu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)|pancreas(1)	4						c.(2125-2127)ATC>ATT		myeloperoxidase	Cefdinir(DB00535)						254.0	195.0	215.0					17																	56348128		2203	4300	6503	SO:0001819	synonymous_variant	4353				anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	g.chr17:56348128G>A		CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.2127C>T	17.37:g.56348128G>A							p.I709I	NM_000250	NP_000241	P05164	PERM_HUMAN			12	2304	-			709					A1L4B8|Q14862|Q4PJH5|Q9UCL7	Silent	SNP	ENST00000225275.3	37	c.2127C>T	CCDS11604.1																																																																																				PASS	0.547	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1			13	22	13	22	---	---	---	---
NOL11	25926	broad.mit.edu	37	17	65720260	65720260	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr17:65720260G>C	ENST00000253247.4	+	6	730	c.615G>C	c.(613-615)aaG>aaC	p.K205N	NOL11_ENST00000535137.1_Missense_Mutation_p.K23N	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	205					maturation of SSU-rRNA (GO:0030490)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)	p.K205N(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			CTGTTATAAAGAGTTTTACTG	0.313																																						uc002jgd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(613-615)AAG>AAC		nucleolar protein 11							93.0	93.0	93.0					17																	65720260		2203	4299	6502	SO:0001583	missense	25926					nucleolus		g.chr17:65720260G>C	AK023702	CCDS11671.1	17q24.2	2005-08-08							24557	protein-coding gene	gene with protein product		615366				12477932	Standard	NM_015462		Approved	DKFZP586L0724	uc002jgd.1	Q9H8H0		ENST00000253247.4:c.615G>C	17.37:g.65720260G>C	ENSP00000253247:p.Lys205Asn					NOL11_uc010wql.1_Missense_Mutation_p.K23N|NOL11_uc010deu.1_5'UTR	p.K205N	NM_015462	NP_056277	Q9H8H0	NOL11_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)		6	618	+	all_cancers(12;1.54e-10)		205					B7Z5V9|Q7L5S1|Q9UG18	Missense_Mutation	SNP	ENST00000253247.4	37	c.615G>C	CCDS11671.1	.	.	.	.	.	.	.	.	.	.	G	2.396	-0.338817	0.05243	.	.	ENSG00000130935	ENST00000253247;ENST00000535137	T	0.52295	0.67	4.7	1.56	0.23342	.	0.612570	0.16262	N	0.222203	T	0.23806	0.0576	N	0.08118	0	0.18873	N	0.999985	B	0.15719	0.014	B	0.18871	0.023	T	0.17868	-1.0355	10	0.27082	T	0.32	-0.0156	7.1545	0.25628	0.2985:0.0:0.7015:0.0	.	205	Q9H8H0	NOL11_HUMAN	N	205;23	ENSP00000253247:K205N	ENSP00000253247:K205N	K	+	3	2	NOL11	63150722	0.963000	0.33076	0.187000	0.23214	0.127000	0.20565	1.510000	0.35790	0.141000	0.18875	0.460000	0.39030	AAG		PASS	0.313	NOL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448074.1	NM_015462		13	43	13	43	---	---	---	---
NARF	26502	broad.mit.edu	37	17	80442724	80442724	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr17:80442724A>G	ENST00000309794.11	+	9	1067	c.869A>G	c.(868-870)cAt>cGt	p.H290R	NARF_ENST00000390006.4_Missense_Mutation_p.H231R|NARF-IT1_ENST00000584012.1_RNA|NARF_ENST00000345415.7_Missense_Mutation_p.H242R|NARF_ENST00000457415.3_Missense_Mutation_p.H336R	NM_012336.3|NM_031968.2	NP_036468.1|NP_114174.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor	290						lamin filament (GO:0005638)|nuclear lamina (GO:0005652)|nuclear lumen (GO:0031981)|nucleus (GO:0005634)	lamin binding (GO:0005521)	p.H336R(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GTGACGCGTCATGATGGAGCC	0.517																																						uc002kfg.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(868-870)CAT>CGT		nuclear prelamin A recognition factor isoform a							150.0	126.0	134.0					17																	80442724		2203	4300	6503	SO:0001583	missense	26502					lamin filament	lamin binding	g.chr17:80442724A>G	BC000438	CCDS32777.1, CCDS42403.1, CCDS42404.1	17q25.3	2011-12-19			ENSG00000141562	ENSG00000141562			29916	protein-coding gene	gene with protein product	"""iron-only hydrogenase-like protein 2"""	605349				10514485, 15667261	Standard	NM_031968		Approved	FLJ10067, DKFZp434G0420, IOP2	uc002kfg.4	Q9UHQ1		ENST00000309794.11:c.869A>G	17.37:g.80442724A>G	ENSP00000309899:p.His290Arg					NARF_uc002kff.3_Missense_Mutation_p.H231R|NARF_uc010wvp.1_3'UTR|NARF_uc010dit.2_Missense_Mutation_p.H336R|NARF_uc002kfj.3_Missense_Mutation_p.H242R|NARF_uc002kfi.3_RNA|NARF_uc002kfh.3_Missense_Mutation_p.H336R|NARF_uc002kfk.2_RNA	p.H290R	NM_012336	NP_036468	Q9UHQ1	NARF_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)		9	1009	+	Breast(20;0.00106)|all_neural(118;0.0804)		290					A6NCJ3|B3KPX2|K4DI98|Q96AY9|Q9BWC6	Missense_Mutation	SNP	ENST00000309794.11	37	c.869A>G	CCDS32777.1	.	.	.	.	.	.	.	.	.	.	.	12.43	1.934440	0.34096	.	.	ENSG00000141562	ENST00000390006;ENST00000374611;ENST00000309794;ENST00000345415	T;T;T	0.39592	1.07;1.07;1.07	5.05	2.83	0.33086	Iron hydrogenase, large subunit, C-terminal (1);Iron hydrogenase (1);	0.046947	0.85682	D	0.000000	T	0.42921	0.1224	M	0.65498	2.005	0.43110	D	0.994817	B;B;B;B	0.28291	0.148;0.206;0.179;0.154	B;B;B;B	0.40477	0.222;0.238;0.33;0.202	T	0.14008	-1.0488	10	0.10902	T	0.67	-11.8598	8.5746	0.33590	0.8411:0.0:0.1589:0.0	.	336;242;337;290	Q9UHQ1-2;Q9UHQ1-3;E9PH27;Q9UHQ1	.;.;.;NARF_HUMAN	R	231;337;290;242	ENSP00000374656:H231R;ENSP00000309899:H290R;ENSP00000283996:H242R	ENSP00000309899:H290R	H	+	2	0	NARF	78036013	1.000000	0.71417	0.041000	0.18516	0.405000	0.30901	5.277000	0.65586	0.272000	0.22027	0.379000	0.24179	CAT		PASS	0.517	NARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443573.2	NM_031968		25	23	25	23	---	---	---	---
ASXL3	80816	broad.mit.edu	37	18	31324466	31324466	+	Silent	SNP	T	T	C			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr18:31324466T>C	ENST00000269197.5	+	12	4654	c.4654T>C	c.(4654-4656)Ttg>Ctg	p.L1552L		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1552					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.L1552L(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CAGTAAAACATTGCCGGCCAC	0.493											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010dmg.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(4654-4656)TTG>CTG		additional sex combs like 3							33.0	34.0	34.0					18																	31324466		1990	4159	6149	SO:0001819	synonymous_variant	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31324466T>C	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.4654T>C	18.37:g.31324466T>C			OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	823	ASXL3_uc002kxq.2_Silent_p.L1259L	p.L1552L	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			12	4709	+			1552					Q6ZMX6|Q96MU3|Q9UFC5	Silent	SNP	ENST00000269197.5	37	c.4654T>C	CCDS45847.1																																																																																				PASS	0.493	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			5	24	5	24	---	---	---	---
SLC14A2	8170	broad.mit.edu	37	18	43219767	43219767	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr18:43219767G>T	ENST00000255226.6	+	7	1716	c.900G>T	c.(898-900)tgG>tgT	p.W300C	SLC14A2_ENST00000586448.1_Missense_Mutation_p.W300C	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	300					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)	p.W300C(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACAATCCCTGGACAGGCGGCG	0.547																																						uc010dnj.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(898-900)TGG>TGT		solute carrier family 14 (urea transporter),							167.0	141.0	150.0					18																	43219767		2203	4300	6503	SO:0001583	missense	8170					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	g.chr18:43219767G>T	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.900G>T	18.37:g.43219767G>T	ENSP00000255226:p.Trp300Cys					SLC14A2_uc002lbb.2_Missense_Mutation_p.W300C|SLC14A2_uc002lbe.2_Missense_Mutation_p.W300C	p.W300C	NM_007163	NP_009094	Q15849	UT2_HUMAN			8	1221	+			300					A8K8Q7|Q2TBD6|Q96PH5	Missense_Mutation	SNP	ENST00000255226.6	37	c.900G>T	CCDS11924.1	.	.	.	.	.	.	.	.	.	.	G	18.28	3.590016	0.66105	.	.	ENSG00000132874	ENST00000255226	T	0.51574	0.7	5.24	5.24	0.73138	.	0.066240	0.64402	D	0.000004	T	0.76471	0.3992	M	0.92738	3.34	0.80722	D	1	D	0.76494	0.999	D	0.69479	0.964	T	0.81782	-0.0775	10	0.72032	D	0.01	-4.8296	19.3787	0.94523	0.0:0.0:1.0:0.0	.	300	Q15849	UT2_HUMAN	C	300	ENSP00000255226:W300C	ENSP00000255226:W300C	W	+	3	0	SLC14A2	41473765	1.000000	0.71417	1.000000	0.80357	0.669000	0.39330	6.003000	0.70701	2.884000	0.98904	0.655000	0.94253	TGG		PASS	0.547	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1			10	65	10	65	---	---	---	---
PIAS2	9063	broad.mit.edu	37	18	44470757	44470757	+	Silent	SNP	G	G	A			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr18:44470757G>A	ENST00000585916.1	-	2	284	c.285C>T	c.(283-285)gaC>gaT	p.D95D	PIAS2_ENST00000545673.1_Intron|PIAS2_ENST00000324794.7_Silent_p.D95D	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	95					androgen receptor signaling pathway (GO:0030521)|negative regulation of androgen receptor signaling pathway (GO:0060766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|regulation of osteoblast differentiation (GO:0045667)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.D95D(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						CCACGGCCAAGTCAGGTTCTA	0.483																																						uc002lck.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|breast(1)|skin(1)	4						c.(283-285)GAC>GAT		protein inhibitor of activated STAT X isoform							104.0	84.0	91.0					18																	44470757		2203	4300	6503	SO:0001819	synonymous_variant	9063				androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|PML body	androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding	g.chr18:44470757G>A	AF077953	CCDS32824.1, CCDS32825.1	18q12.1-q12.3	2011-10-11				ENSG00000078043		"""Zinc fingers, MIZ-type"""	17311	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 4"""	603567				9724754, 9256341	Standard	NM_004671		Approved	PIASX-BETA, miz, PIASX-ALPHA, ZMIZ4	uc002lck.3	O75928		ENST00000585916.1:c.285C>T	18.37:g.44470757G>A						PIAS2_uc010dnp.2_5'UTR|PIAS2_uc002lcl.2_Silent_p.D95D|PIAS2_uc010xda.1_Intron|PIAS2_uc002lcm.2_Silent_p.D95D|PIAS2_uc002lcn.1_Silent_p.D99D	p.D95D	NM_004671	NP_004662	O75928	PIAS2_HUMAN			2	443	-			95					O75927|Q96BT5|Q96KE3	Silent	SNP	ENST00000585916.1	37	c.285C>T	CCDS32824.1																																																																																				PASS	0.483	PIAS2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445656.2	NM_004671		14	25	14	25	---	---	---	---
CCBE1	147372	broad.mit.edu	37	18	57103325	57103325	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr18:57103325G>A	ENST00000439986.4	-	11	1073	c.1036C>T	c.(1036-1038)Cgc>Tgc	p.R346C	CCBE1_ENST00000398179.2_Missense_Mutation_p.R75C	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	346					lymphangiogenesis (GO:0001946)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of protein processing (GO:0010954)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|positive regulation vascular endothelial growth factor production (GO:0010575)|sprouting angiogenesis (GO:0002040)|venous blood vessel morphogenesis (GO:0048845)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|protease binding (GO:0002020)	p.R346C(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				ATGTCATTGCGGATGTCAGCC	0.522																																					NSCLC(137;1340 1860 15773 39604 51087)|Esophageal Squamous(139;339 1777 2926 19691 38524)	uc002lib.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1036-1038)CGC>TGC		collagen and calcium binding EGF domains 1							122.0	127.0	126.0					18																	57103325		2203	4300	6503	SO:0001583	missense	147372				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding	g.chr18:57103325G>A	AB075863	CCDS32838.1	18q21.32	2005-01-18				ENSG00000183287			29426	protein-coding gene	gene with protein product		612753				11853319, 12975309	Standard	NM_133459		Approved	FLJ30681, KIAA1983	uc002lib.3	Q6UXH8		ENST00000439986.4:c.1036C>T	18.37:g.57103325G>A	ENSP00000404464:p.Arg346Cys					CCBE1_uc010dpq.2_Missense_Mutation_p.R75C|CCBE1_uc002lia.2_Missense_Mutation_p.R199C	p.R346C	NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN			11	1106	-		Colorectal(73;0.175)	346					Q6MZX5|Q86SS2|Q8TF19	Missense_Mutation	SNP	ENST00000439986.4	37	c.1036C>T	CCDS32838.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.360196	0.82353	.	.	ENSG00000183287	ENST00000439986;ENST00000398179	D;D	0.94576	-3.46;-3.46	5.79	4.87	0.63330	.	0.096988	0.64402	D	0.000002	D	0.96281	0.8787	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.996;0.999	D	0.95925	0.8934	10	0.87932	D	0	-29.0958	11.6681	0.51385	0.0:0.0:0.6816:0.3184	.	75;346;155	Q6UXH8-2;Q6UXH8;Q6UXH8-3	.;CCBE1_HUMAN;.	C	346;75	ENSP00000404464:R346C;ENSP00000381241:R75C	ENSP00000381241:R75C	R	-	1	0	CCBE1	55254305	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.175000	0.58263	2.731000	0.93534	0.650000	0.86243	CGC		PASS	0.522	CCBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449685.2	NM_133459		32	103	32	103	---	---	---	---
ZNF554	115196	broad.mit.edu	37	19	2834406	2834406	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr19:2834406G>C	ENST00000317243.5	+	5	1371	c.1173G>C	c.(1171-1173)agG>agC	p.R391S		NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	391					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.R391S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTTCAACAGGATCTCATCGC	0.542																																						uc002lwm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1171-1173)AGG>AGC		zinc finger protein 554							46.0	50.0	48.0					19																	2834406		2180	4293	6473	SO:0001583	missense	115196				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2834406G>C	AK027860	CCDS42462.1	19p13.3	2013-09-20			ENSG00000172006	ENSG00000172006		"""Zinc fingers, C2H2-type"", ""-"""	26629	protein-coding gene	gene with protein product						12477932	Standard	NM_001102651		Approved	FLJ34817	uc002lwm.2	Q86TJ5	OTTHUMG00000180493	ENST00000317243.5:c.1173G>C	19.37:g.2834406G>C	ENSP00000321132:p.Arg391Ser					ZNF554_uc002lwl.2_Missense_Mutation_p.R340S	p.R391S	NM_001102651	NP_001096121	Q86TJ5	ZN554_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	1371	+		Hepatocellular(1079;0.137)	391			C2H2-type 4.		Q8NAT3|Q9BWN3	Missense_Mutation	SNP	ENST00000317243.5	37	c.1173G>C	CCDS42462.1	.	.	.	.	.	.	.	.	.	.	G	10.31	1.315753	0.23908	.	.	ENSG00000172006	ENST00000317243	T	0.07444	3.19	2.76	0.499	0.16914	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05777	0.0151	L	0.33485	1.01	0.09310	N	0.999999	P	0.43909	0.821	B	0.40506	0.331	T	0.31752	-0.9932	9	0.36615	T	0.2	.	2.6697	0.05064	0.2702:0.0:0.5055:0.2243	.	391	Q86TJ5	ZN554_HUMAN	S	391	ENSP00000321132:R391S	ENSP00000321132:R391S	R	+	3	2	ZNF554	2785406	0.000000	0.05858	0.868000	0.34077	0.819000	0.46315	-1.200000	0.03029	0.075000	0.16796	0.573000	0.79308	AGG		PASS	0.542	ZNF554-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451598.3	NM_152303		11	44	11	44	---	---	---	---
LRG1	116844	broad.mit.edu	37	19	4538952	4538952	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr19:4538952A>G	ENST00000306390.6	-	2	504	c.44T>C	c.(43-45)aTt>aCt	p.I15T	LRG1_ENST00000586883.1_Intron|CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	15					brown fat cell differentiation (GO:0050873)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.I15T(1)		NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGGGGTTGAATGCCCCCTGG	0.532																																						uc002mau.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(43-45)ATT>ACT		leucine-rich alpha-2-glycoprotein 1 precursor							45.0	48.0	47.0					19																	4538952		2203	4300	6503	SO:0001583	missense	116844					extracellular region|membrane		g.chr19:4538952A>G		CCDS12130.1	19p13.3	2013-09-20			ENSG00000171236	ENSG00000171236			29480	protein-coding gene	gene with protein product	"""leucine rich alpha 2 glycoprotein"""	611289				3856868, 12223515	Standard	NM_052972		Approved	LRG	uc002mau.3	P02750	OTTHUMG00000182010	ENST00000306390.6:c.44T>C	19.37:g.4538952A>G	ENSP00000302621:p.Ile15Thr					PLIN5_uc002mat.1_Intron	p.I15T	NM_052972	NP_443204	P02750	A2GL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	2	55	-		Hepatocellular(1079;0.137)	15					Q8N4F5|Q96QZ4	Missense_Mutation	SNP	ENST00000306390.6	37	c.44T>C	CCDS12130.1	.	.	.	.	.	.	.	.	.	.	.	8.446	0.852030	0.17034	.	.	ENSG00000171236	ENST00000306390;ENST00000538589	T	0.52983	0.64	3.95	1.82	0.25136	.	1.149510	0.06808	N	0.789833	T	0.26122	0.0637	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20773	-1.0265	10	0.48119	T	0.1	-0.4706	3.6768	0.08295	0.6277:0.2495:0.1228:0.0	.	15	P02750	A2GL_HUMAN	T	15	ENSP00000302621:I15T	ENSP00000302621:I15T	I	-	2	0	LRG1	4489952	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.043000	0.13971	0.681000	0.31386	0.459000	0.35465	ATT		PASS	0.532	LRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458654.2	NM_052972		21	42	21	42	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9091636	9091636	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr19:9091636G>A	ENST00000397910.4	-	1	382	c.179C>T	c.(178-180)cCa>cTa	p.P60L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	60	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.P60L(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTCTTATCTGGGGAAGTAAA	0.512																																						uc002mkp.2																			2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(178-180)CCA>CTA		mucin 16							140.0	139.0	140.0					19																	9091636		2037	4196	6233	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9091636G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.179C>T	19.37:g.9091636G>A	ENSP00000381008:p.Pro60Leu						p.P60L	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	383	-			60			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.179C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	5.388	0.256803	0.10185	.	.	ENSG00000181143	ENST00000397910	T	0.03212	4.01	1.16	-1.57	0.08506	.	.	.	.	.	T	0.01800	0.0057	N	0.08118	0	.	.	.	B	0.23540	0.087	B	0.15484	0.013	T	0.44742	-0.9308	8	0.87932	D	0	.	2.5288	0.04697	0.2368:0.3183:0.4449:0.0	.	60	B5ME49	.	L	60	ENSP00000381008:P60L	ENSP00000381008:P60L	P	-	2	0	MUC16	8952636	0.001000	0.12720	0.000000	0.03702	0.453000	0.32348	-0.001000	0.12947	-0.376000	0.07943	0.313000	0.20887	CCA		PASS	0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		48	38	48	38	---	---	---	---
ZNF562	54811	broad.mit.edu	37	19	9763810	9763810	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr19:9763810G>C	ENST00000448622.1	-	6	1258	c.1096C>G	c.(1096-1098)Cac>Gac	p.H366D	ZNF562_ENST00000453372.2_Missense_Mutation_p.H366D|ZNF562_ENST00000541032.1_Missense_Mutation_p.H329D|ZNF562_ENST00000453792.2_Missense_Mutation_p.H297D|ZNF562_ENST00000293648.4_Missense_Mutation_p.H294D|ZNF562_ENST00000590155.1_Missense_Mutation_p.H365D|ZNF562_ENST00000537617.1_Missense_Mutation_p.H250D	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562	366					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.H294D(1)|p.H366D(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						TCTCCAGTGTGATTTCGTATG	0.428																																						uc010xks.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1096-1098)CAC>GAC		zinc finger protein 562 isoform a							136.0	128.0	131.0					19																	9763810		2203	4300	6503	SO:0001583	missense	54811				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9763810G>C	AK000086	CCDS12217.1, CCDS45956.1, CCDS74280.1	19p13.2	2013-09-20			ENSG00000171466	ENSG00000171466		"""Zinc fingers, C2H2-type"", ""-"""	25950	protein-coding gene	gene with protein product							Standard	NM_001130031		Approved	FLJ20079	uc010xks.2	Q6V9R5	OTTHUMG00000180205	ENST00000448622.1:c.1096C>G	19.37:g.9763810G>C	ENSP00000411784:p.His366Asp					ZNF562_uc002mly.2_Missense_Mutation_p.H366D|ZNF562_uc002mlx.2_Missense_Mutation_p.H294D|ZNF562_uc010xkt.1_Missense_Mutation_p.H329D|ZNF562_uc010xku.1_Missense_Mutation_p.H297D|ZNF562_uc010xkv.1_Missense_Mutation_p.H365D|ZNF562_uc010xkw.1_Missense_Mutation_p.H250D	p.H366D	NM_001130032	NP_001123504	Q6V9R5	ZN562_HUMAN			6	1259	-			366			C2H2-type 6.		Q32MN2|Q9NXS5	Missense_Mutation	SNP	ENST00000448622.1	37	c.1096C>G	CCDS45956.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.369320	0.61624	.	.	ENSG00000171466	ENST00000453372;ENST00000448622;ENST00000293648;ENST00000541032;ENST00000453792;ENST00000537617	T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	1.67	1.67	0.24075	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.84871	0.5568	H	0.95850	3.73	0.41536	D	0.988488	P;P;D;P;P	0.76494	0.673;0.721;0.999;0.721;0.673	B;B;D;P;P	0.83275	0.176;0.338;0.996;0.6;0.465	D	0.86633	0.1887	9	0.87932	D	0	.	9.2869	0.37762	0.0:0.0:1.0:0.0	.	250;365;329;366;294	F5H1B4;B4DMG0;B4DZP9;Q6V9R5;Q6V9R5-2	.;.;.;ZN562_HUMAN;.	D	366;366;294;329;297;250	ENSP00000410734:H366D;ENSP00000411784:H366D;ENSP00000293648:H294D;ENSP00000442614:H329D;ENSP00000440451:H297D;ENSP00000445816:H250D	ENSP00000293648:H294D	H	-	1	0	ZNF562	9624810	1.000000	0.71417	0.116000	0.21606	0.779000	0.44077	5.962000	0.70364	1.229000	0.43630	0.313000	0.20887	CAC		PASS	0.428	ZNF562-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450239.1	NM_017656		16	73	16	73	---	---	---	---
ZNF562	54811	broad.mit.edu	37	19	9763923	9763923	+	Nonsense_Mutation	SNP	G	G	C			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr19:9763923G>C	ENST00000448622.1	-	6	1145	c.983C>G	c.(982-984)tCa>tGa	p.S328*	ZNF562_ENST00000453372.2_Nonsense_Mutation_p.S328*|ZNF562_ENST00000541032.1_Nonsense_Mutation_p.S291*|ZNF562_ENST00000453792.2_Nonsense_Mutation_p.S259*|ZNF562_ENST00000293648.4_Nonsense_Mutation_p.S256*|ZNF562_ENST00000590155.1_Nonsense_Mutation_p.S327*|ZNF562_ENST00000537617.1_Nonsense_Mutation_p.S212*	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562	328					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.S256*(1)|p.S328*(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						AAGGTGAGTTGATCTAGTGAA	0.398																																						uc010xks.1																			2	Substitution - Nonsense(2)		lung(2)		0						c.(982-984)TCA>TGA		zinc finger protein 562 isoform a							180.0	165.0	170.0					19																	9763923		2203	4300	6503	SO:0001587	stop_gained	54811				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9763923G>C	AK000086	CCDS12217.1, CCDS45956.1, CCDS74280.1	19p13.2	2013-09-20			ENSG00000171466	ENSG00000171466		"""Zinc fingers, C2H2-type"", ""-"""	25950	protein-coding gene	gene with protein product							Standard	NM_001130031		Approved	FLJ20079	uc010xks.2	Q6V9R5	OTTHUMG00000180205	ENST00000448622.1:c.983C>G	19.37:g.9763923G>C	ENSP00000411784:p.Ser328*					ZNF562_uc002mly.2_Nonsense_Mutation_p.S328*|ZNF562_uc002mlx.2_Nonsense_Mutation_p.S256*|ZNF562_uc010xkt.1_Nonsense_Mutation_p.S291*|ZNF562_uc010xku.1_Nonsense_Mutation_p.S259*|ZNF562_uc010xkv.1_Nonsense_Mutation_p.S327*|ZNF562_uc010xkw.1_Nonsense_Mutation_p.S212*	p.S328*	NM_001130032	NP_001123504	Q6V9R5	ZN562_HUMAN			6	1146	-			328			C2H2-type 5.		Q32MN2|Q9NXS5	Nonsense_Mutation	SNP	ENST00000448622.1	37	c.983C>G	CCDS45956.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.255580	0.59321	.	.	ENSG00000171466	ENST00000453372;ENST00000448622;ENST00000293648;ENST00000541032;ENST00000453792;ENST00000537617	.	.	.	1.52	0.35	0.16037	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	3.7018	0.08386	0.0:0.2782:0.4401:0.2817	.	.	.	.	X	328;328;256;291;259;212	.	ENSP00000293648:S256X	S	-	2	0	ZNF562	9624923	0.000000	0.05858	0.004000	0.12327	0.448000	0.32197	-1.918000	0.01574	0.174000	0.19809	0.306000	0.20318	TCA		PASS	0.398	ZNF562-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450239.1	NM_017656		18	74	18	74	---	---	---	---
ZNF20	7568	broad.mit.edu	37	19	12243726	12243726	+	Silent	SNP	A	A	G			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr19:12243726A>G	ENST00000334213.5	-	4	1499	c.1275T>C	c.(1273-1275)tgT>tgC	p.C425C	ZNF20_ENST00000485451.1_5'Flank|ZNF625-ZNF20_ENST00000430024.1_3'UTR|ZNF20_ENST00000600335.1_Intron	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN	zinc finger protein 20	425					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.C472C(1)|p.C425C(1)		endometrium(1)|kidney(1)|lung(6)	8						CACATTGCTTACATTCATGGG	0.403																																						uc002mtf.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(1273-1275)TGT>TGC		zinc finger protein 20							83.0	87.0	86.0					19																	12243726		2184	4293	6477	SO:0001819	synonymous_variant	7568				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12243726A>G	X52344	CCDS45986.1	19p13.2	2013-01-08	2006-05-10		ENSG00000132010	ENSG00000132010		"""Zinc fingers, C2H2-type"", ""-"""	12992	protein-coding gene	gene with protein product		194557	"""zinc finger protein 20 (KOX 13)"""				Standard	NM_021143		Approved	KOX13	uc002mtf.2	P17024	OTTHUMG00000156409	ENST00000334213.5:c.1275T>C	19.37:g.12243726A>G						ZNF20_uc002mte.1_Silent_p.C390C|ZNF20_uc002mtg.1_Silent_p.C425C	p.C425C	NM_021143	NP_066966	P17024	ZNF20_HUMAN			4	1418	-			425			C2H2-type 12.		Q8N457|Q9UG41	Silent	SNP	ENST00000334213.5	37	c.1275T>C	CCDS45986.1																																																																																				PASS	0.403	ZNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344101.1	NM_021143		24	43	24	43	---	---	---	---
ZNF100	163227	broad.mit.edu	37	19	21910559	21910559	+	Silent	SNP	G	G	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr19:21910559G>T	ENST00000358296.6	-	5	753	c.555C>A	c.(553-555)gtC>gtA	p.V185V	ZNF100_ENST00000305570.6_Silent_p.V121V	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	185					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.V185V(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						ATGTATGAAAGACTTTTGCAG	0.303																																						uc002nqi.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(553-555)GTC>GTA		zinc finger protein 100							124.0	126.0	125.0					19																	21910559		2051	4224	6275	SO:0001819	synonymous_variant	163227				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21910559G>T	BC035579	CCDS42538.1	19p13.1	2013-01-08	2003-12-19		ENSG00000197020	ENSG00000197020		"""Zinc fingers, C2H2-type"", ""-"""	12880	protein-coding gene	gene with protein product		603982	"""zinc finger protein 100 (Y1)"""			12477932	Standard	NM_173531		Approved		uc002nqi.3	Q8IYN0		ENST00000358296.6:c.555C>A	19.37:g.21910559G>T						ZNF100_uc002nqh.2_Silent_p.V121V	p.V185V	NM_173531	NP_775802	Q8IYN0	ZN100_HUMAN			5	754	-			185			C2H2-type 1; degenerate.		Q7M4M0	Silent	SNP	ENST00000358296.6	37	c.555C>A	CCDS42538.1																																																																																				PASS	0.303	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464087.1	NM_173531		8	95	8	95	---	---	---	---
LSR	51599	broad.mit.edu	37	19	35757275	35757275	+	Silent	SNP	C	C	A			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr19:35757275C>A	ENST00000361790.3	+	6	1095	c.936C>A	c.(934-936)ggC>ggA	p.G312G	LSR_ENST00000427250.1_Silent_p.G156G|LSR_ENST00000602122.1_Silent_p.G293G|USF2_ENST00000595068.1_5'Flank|USF2_ENST00000222305.3_5'Flank|LSR_ENST00000354900.3_Silent_p.G293G|LSR_ENST00000347609.4_Silent_p.G275G|USF2_ENST00000343550.5_5'Flank|USF2_ENST00000594064.1_5'Flank|LSR_ENST00000360798.3_Silent_p.G244G|USF2_ENST00000379134.3_5'Flank|AD000684.2_ENST00000602262.1_RNA	NM_205834.3	NP_991403.1	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	312					embryo development (GO:0009790)|liver development (GO:0001889)	chylomicron (GO:0042627)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)		p.G312G(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			ATGCCGCCGGCAAAGCAGCCA	0.617																																						uc002nyl.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(934-936)GGC>GGA		lipolysis stimulated lipoprotein receptor							86.0	86.0	86.0					19																	35757275		2203	4300	6503	SO:0001819	synonymous_variant	51599				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity	g.chr19:35757275C>A	AF130366	CCDS12449.1, CCDS12450.1, CCDS12451.1, CCDS59376.1	19q13.12	2013-01-11			ENSG00000105699	ENSG00000105699		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29572	protein-coding gene	gene with protein product	"""lipolysis-stimulated remnant"", ""immunoglobulin-like domain containing receptor 3"""					10224102	Standard	NM_015925		Approved	LISCH7, ILDR3	uc002nyl.3	Q86X29		ENST00000361790.3:c.936C>A	19.37:g.35757275C>A						LSR_uc002nym.2_Silent_p.G293G|LSR_uc002nyn.2_Silent_p.G244G|LSR_uc002nyo.2_Silent_p.G293G|LSR_uc010xsr.1_Silent_p.G204G|LSR_uc002nyp.2_Silent_p.G275G|USF2_uc010xss.1_5'Flank|USF2_uc002nyq.1_5'Flank|USF2_uc002nyr.1_5'Flank|USF2_uc002nys.1_5'Flank|USF2_uc002nyt.1_5'Flank	p.G312G	NM_205834	NP_991403	Q86X29	LSR_HUMAN	Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		6	1159	+	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		312			Cytoplasmic (Potential).		A6NDW3|B4DKL4|E9PHD4|O00112|O00426|Q6ZT80|Q8NBM0|Q9BT33|Q9UQL3	Silent	SNP	ENST00000361790.3	37	c.936C>A	CCDS12450.1																																																																																				PASS	0.617	LSR-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465513.2	NM_015925		4	73	4	73	---	---	---	---
ZNF473	25888	broad.mit.edu	37	19	50550136	50550136	+	Silent	SNP	G	G	A			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr19:50550136G>A	ENST00000595661.1	+	6	2931	c.2436G>A	c.(2434-2436)aaG>aaA	p.K812K	ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000445728.3_Silent_p.K800K|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000391821.2_Silent_p.K812K|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000270617.3_Silent_p.K812K			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	812					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K812K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		CAGGGGAGAAGCCTTACTCCT	0.493											OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002prn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2434-2436)AAG>AAA		zinc finger protein 473							84.0	81.0	82.0					19																	50550136		2203	4300	6503	SO:0001819	synonymous_variant	25888				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding	g.chr19:50550136G>A	AB032967	CCDS33077.1	19q13.33	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.2436G>A	19.37:g.50550136G>A			OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	970	ZNF473_uc002prm.2_Silent_p.K812K|ZNF473_uc010ybo.1_Silent_p.K800K	p.K812K	NM_001006656	NP_001006657	Q8WTR7	ZN473_HUMAN		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)	5	2673	+		all_neural(266;0.0459)|Ovarian(192;0.0728)	812					A8K8T7|Q9ULS9|Q9Y4Q7	Silent	SNP	ENST00000595661.1	37	c.2436G>A	CCDS33077.1																																																																																				PASS	0.493	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390		21	46	21	46	---	---	---	---
LILRA2	11027	broad.mit.edu	37	19	55086982	55086982	+	Missense_Mutation	SNP	G	G	T	rs143337690	byFrequency	TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr19:55086982G>T	ENST00000251377.3	+	6	1048	c.915G>T	c.(913-915)tgG>tgT	p.W305C	LILRA2_ENST00000391738.3_Missense_Mutation_p.W305C|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.W305C|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.W293C			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	305	Ig-like C2-type 3.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.W305C(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CCTCCGAGTGGTCGGCCCCCA	0.672																																						uc002qgg.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(913-915)TGG>TGT		leukocyte immunoglobulin-like receptor,							42.0	47.0	46.0					19																	55086982		2203	4299	6502	SO:0001583	missense	11027				defense response	integral to membrane	antigen binding|receptor activity	g.chr19:55086982G>T	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.915G>T	19.37:g.55086982G>T	ENSP00000251377:p.Trp305Cys					LILRA2_uc010ern.2_Missense_Mutation_p.W305C|LILRA2_uc002qgf.2_Missense_Mutation_p.W305C|LILRA2_uc010yfe.1_Missense_Mutation_p.W305C|LILRA2_uc010yff.1_Missense_Mutation_p.W293C|LILRA2_uc010ero.2_Missense_Mutation_p.W293C|LILRA2_uc010yfg.1_Intron	p.W305C	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN		GBM - Glioblastoma multiforme(193;0.0963)	5	1004	+			305			Ig-like C2-type 3.|Extracellular (Potential).		O75020	Missense_Mutation	SNP	ENST00000251377.3	37	c.915G>T	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.306262	0.23736	.	.	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T;T	0.00902	5.56;5.56;5.56;5.56;5.56	2.92	2.92	0.33932	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.545838	0.13982	N	0.349415	T	0.06735	0.0172	H	0.96691	3.865	0.34424	D	0.697786	D;P;P;P	0.54207	0.965;0.491;0.904;0.474	P;B;P;B	0.56127	0.79;0.429;0.792;0.315	T	0.03608	-1.1020	10	0.72032	D	0.01	.	9.5201	0.39129	0.0:0.0:1.0:0.0	.	305;293;305;305	E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;LIRA2_HUMAN;.	C	305;305;305;305;293	ENSP00000388131:W305C;ENSP00000251377:W305C;ENSP00000375618:W305C;ENSP00000251376:W305C;ENSP00000375617:W293C	ENSP00000251376:W305C	W	+	3	0	LILRA2	59778794	0.979000	0.34478	0.022000	0.16811	0.309000	0.27889	2.105000	0.41825	1.638000	0.50547	0.502000	0.49764	TGG		PASS	0.672	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			4	55	4	55	---	---	---	---
KIR2DL3	3804	broad.mit.edu	37	19	55255266	55255266	+	Missense_Mutation	SNP	T	T	G			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr19:55255266T>G	ENST00000342376.3	+	4	425	c.394T>G	c.(394-396)Tca>Gca	p.S132A	CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL3_ENST00000434419.2_Missense_Mutation_p.S132A	NM_015868.2	NP_056952.2	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	132					immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.S132A(1)		breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		ACCTTCTCTCTCAGCCCAGCC	0.562																																						uc002qgv.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(394-396)TCA>GCA		killer cell immunoglobulin-like receptor, two							58.0	68.0	65.0					19																	55255266		1240	2439	3679	SO:0001583	missense	3804				immune response|regulation of immune response	integral to plasma membrane	antigen binding|protein binding|receptor activity	g.chr19:55255266T>G	L41268	CCDS33107.1	19q13.4	2013-01-29				ENSG00000243772		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6331	protein-coding gene	gene with protein product		604938				7749980, 8662091	Standard	XM_006725426		Approved	cl-6, nkat2, nkat2a, nkat2b, p58, CD158B2		P43628	OTTHUMG00000065887	ENST00000342376.3:c.394T>G	19.37:g.55255266T>G	ENSP00000342215:p.Ser132Ala					KIR2DL3_uc002qgx.2_Missense_Mutation_p.S132A|KIR2DL3_uc002qgy.2_Intron|KIR2DL3_uc010erw.1_Missense_Mutation_p.S132A|KIR2DL1_uc002qgz.1_Missense_Mutation_p.S42A|KIR2DL3_uc002qha.1_Intron	p.S132A	NM_015868	NP_056952	P43628	KI2L3_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	4	412	+			132			Extracellular (Potential).		O43472|P78402|Q14944|Q14945|Q9UM51|Q9UQ70	Missense_Mutation	SNP	ENST00000342376.3	37	c.394T>G	CCDS33107.1	.	.	.	.	.	.	.	.	.	.	T	12.67	2.007090	0.35415	.	.	ENSG00000243772	ENST00000342376;ENST00000434419	T;T	0.13538	2.58;2.58	1.28	1.28	0.21552	Immunoglobulin-like fold (2);	.	.	.	.	T	0.33556	0.0867	M	0.89214	3.015	0.09310	N	1	P;D;P;P	0.53312	0.522;0.959;0.88;0.88	P;P;P;P	0.60345	0.532;0.873;0.823;0.823	T	0.09271	-1.0682	9	0.87932	D	0	.	4.7652	0.13128	0.0:0.0:0.0:1.0	.	132;132;132;132	E3NZD7;P43627;P43628;E3NZD8	.;KI2L2_HUMAN;KI2L3_HUMAN;.	A	132	ENSP00000342215:S132A;ENSP00000415758:S132A	ENSP00000342215:S132A	S	+	1	0	KIR2DL3	59947078	0.000000	0.05858	0.014000	0.15608	0.108000	0.19459	-0.276000	0.08514	0.849000	0.35215	0.155000	0.16302	TCA		PASS	0.562	KIR2DL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000141150.1			41	21	41	21	---	---	---	---
PLCB1	23236	broad.mit.edu	37	20	8707972	8707972	+	Silent	SNP	T	T	C			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr20:8707972T>C	ENST00000338037.6	+	17	1722	c.1695T>C	c.(1693-1695)ttT>ttC	p.F565F	PLCB1_ENST00000378641.3_Silent_p.F565F|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Silent_p.F565F	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	565	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)	p.F565F(2)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						ATAAAAGTTTTGAAATGTCTT	0.328																																						uc002wnb.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						c.(1693-1695)TTT>TTC		phosphoinositide-specific phospholipase C beta 1							57.0	58.0	57.0					20																	8707972		2203	4299	6502	SO:0001819	synonymous_variant	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8707972T>C	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.1695T>C	20.37:g.8707972T>C						PLCB1_uc010zrb.1_Silent_p.F464F|PLCB1_uc002wna.2_Silent_p.F565F|PLCB1_uc002wnc.1_Silent_p.F464F|PLCB1_uc002wnd.1_Silent_p.F142F	p.F565F	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN			17	1698	+			565			PI-PLC Y-box.		D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Silent	SNP	ENST00000338037.6	37	c.1695T>C	CCDS13102.1																																																																																				PASS	0.328	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			5	37	5	37	---	---	---	---
MYH7B	57644	broad.mit.edu	37	20	33572514	33572514	+	Missense_Mutation	SNP	C	C	T	rs200297719	byFrequency	TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr20:33572514C>T	ENST00000262873.7	+	9	862	c.770C>T	c.(769-771)aCg>aTg	p.T257M		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	215	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.T257M(1)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GCAACAAAGACGGGGGTGAGT	0.647													C|||	3	0.000599042	0.0023	0.0	5008	,	,		14830	0.0		0.0	False		,,,				2504	0.0					uc002xbi.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(769-771)ACG>ATG		myosin, heavy polypeptide 7B, cardiac muscle,		C	MET/THR	3,3779		0,3,1888	42.0	44.0	43.0		770	4.6	1.0	20		43	0,8218		0,0,4109	yes	missense	MYH7B	NM_020884.3	81	0,3,5997	TT,TC,CC		0.0,0.0793,0.025	probably-damaging	257/1984	33572514	3,11997	1891	4109	6000	SO:0001583	missense	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33572514C>T	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.770C>T	20.37:g.33572514C>T	ENSP00000262873:p.Thr257Met						p.T257M	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		9	862	+			215			Myosin head-like.		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	c.770C>T	CCDS42869.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	6.197	0.404441	0.11754	7.93E-4	0.0	ENSG00000078814	ENST00000262873	D	0.87729	-2.29	4.64	4.64	0.57946	Myosin head, motor domain (2);	0.000000	0.33631	N	0.004711	T	0.78349	0.4269	N	0.02876	-0.465	0.38180	D	0.939604	D	0.64830	0.994	P	0.50270	0.636	T	0.83072	-0.0142	10	0.39692	T	0.17	.	15.3692	0.74548	0.0:1.0:0.0:0.0	.	215	A7E2Y1	MYH7B_HUMAN	M	257	ENSP00000262873:T257M	ENSP00000262873:T257M	T	+	2	0	MYH7B	33036175	0.575000	0.26692	0.998000	0.56505	0.949000	0.60115	1.081000	0.30791	2.562000	0.86427	0.655000	0.94253	ACG		PASS	0.647	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		6	33	6	33	---	---	---	---
UQCC1	55245	broad.mit.edu	37	20	33894581	33894581	+	Splice_Site	SNP	C	C	A			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr20:33894581C>A	ENST00000374385.5	-	9	830	c.653G>T	c.(652-654)gGg>gTg	p.G218V	UQCC1_ENST00000540457.1_Splice_Site_p.G63V|UQCC1_ENST00000542501.1_3'UTR|UQCC1_ENST00000407996.2_Splice_Site_p.G81V|UQCC1_ENST00000397556.3_Splice_Site_p.G119V|UQCC1_ENST00000359226.2_Splice_Site_p.G138V|UQCC1_ENST00000349714.5_Splice_Site_p.G191V|UQCC1_ENST00000374377.5_Splice_Site_p.G106V|UQCC1_ENST00000374380.2_Splice_Site_p.G150V|UQCC1_ENST00000374384.2_Splice_Site_p.G192V	NM_018244.4	NP_060714.3	Q9NVA1	UQCC1_HUMAN	ubiquinol-cytochrome c reductase complex assembly factor 1	218						cytoplasmic membrane-bounded vesicle (GO:0016023)|mitochondrion (GO:0005739)		p.G218V(1)									TGAAAGGATCCCCTGGAACAT	0.522											OREG0025889	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002xcd.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(652-654)GGG>GTG		basic FGF-repressed Zic binding protein isoform							76.0	75.0	75.0					20																	33894581		2203	4300	6503	SO:0001630	splice_region_variant	55245					cytoplasmic membrane-bounded vesicle		g.chr20:33894581C>A	AK001712	CCDS13252.1, CCDS13253.1, CCDS13253.2, CCDS54458.1	20q11.22	2013-09-20	2013-09-20	2013-09-20	ENSG00000101019	ENSG00000101019		"""Mitochondrial respiratory chain complex assembly factors"""	15891	protein-coding gene	gene with protein product	"""Basic FGF-repressed Zic-binding protein"", ""cytochrome B protein synthesis 3 homolog (S. cerevisiae)"""	611797	"""chromosome 20 open reading frame 44"", ""ubiquinol-cytochrome c reductase complex chaperone"""	C20orf44, UQCC			Standard	NM_018244		Approved	FLJ10850, CBP3, BFZB	uc002xcd.3	Q9NVA1	OTTHUMG00000032335	ENST00000374385.5:c.652-1G>T	20.37:g.33894581C>A			OREG0025889	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	843	UQCC_uc010zuy.1_Missense_Mutation_p.G119V|UQCC_uc010zuz.1_Missense_Mutation_p.G63V|UQCC_uc010zva.1_Missense_Mutation_p.G81V|UQCC_uc002xce.2_Missense_Mutation_p.G191V|UQCC_uc002xcg.2_Missense_Mutation_p.G84V|UQCC_uc010gfb.2_Missense_Mutation_p.G192V|UQCC_uc010zvb.1_Missense_Mutation_p.G150V|UQCC_uc002xcf.2_Missense_Mutation_p.G106V|UQCC_uc002xch.2_5'Flank|UQCC_uc002xcc.2_Missense_Mutation_p.G31V	p.G218V	NM_018244	NP_060714	Q9NVA1	UQCC_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		9	720	-			218					B1AKV5|Q0VF37|Q5T348|Q5T351|Q5T353|Q86YU3|Q86YU4|Q96H66|Q9H438|Q9H452|Q9H9K8|Q9H9R5	Missense_Mutation	SNP	ENST00000374385.5	37	c.653G>T	CCDS13252.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.214323	0.79352	.	.	ENSG00000101019	ENST00000349714;ENST00000359226;ENST00000374384;ENST00000374380;ENST00000374385;ENST00000374377;ENST00000397556;ENST00000407996;ENST00000540457;ENST00000424405;ENST00000438533	T;T;T;T;T;T;T	0.67698	0.72;0.56;0.94;0.61;-0.28;0.13;0.32	5.23	5.23	0.72850	.	0.058464	0.64402	D	0.000002	D	0.85039	0.5606	M	0.89478	3.035	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.999;1.0;1.0;0.999;0.999;1.0;1.0;1.0	D	0.87208	0.2245	10	0.87932	D	0	-0.078	18.3391	0.90299	0.0:1.0:0.0:0.0	.	150;81;192;103;119;191;218;31	B1AKV5;B7Z7J8;B7ZBG3;Q9NVA1-3;B7Z314;B7ZBG4;Q9NVA1;Q7Z3P9	.;.;.;.;.;.;UQCC_HUMAN;.	V	191;138;192;150;218;106;119;81;63;186;232	ENSP00000335364:G191V;ENSP00000352161:G138V;ENSP00000363505:G192V;ENSP00000363506:G218V;ENSP00000386064:G81V;ENSP00000399713:G186V;ENSP00000398531:G232V	ENSP00000335364:G191V	G	-	2	0	UQCC	33357995	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.187000	0.77730	2.890000	0.99128	0.655000	0.94253	GGG		PASS	0.522	UQCC1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078866.1	NM_018244	Missense_Mutation	8	28	8	28	---	---	---	---
SERINC3	10955	broad.mit.edu	37	20	43129878	43129878	+	Silent	SNP	G	G	A			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr20:43129878G>A	ENST00000342374.4	-	9	1276	c.1119C>T	c.(1117-1119)atC>atT	p.I373I	SERINC3_ENST00000541235.1_Silent_p.I318I|SERINC3_ENST00000255175.1_Silent_p.I373I	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	373					phosphatidylserine metabolic process (GO:0006658)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)	p.I373I(1)		endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			TATCACCAAGGATGACGCTGT	0.517																																						uc002xme.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)	3						c.(1117-1119)ATC>ATT		tumor differentially expressed protein 1							162.0	133.0	143.0					20																	43129878		2203	4300	6503	SO:0001819	synonymous_variant	10955					integral to membrane|plasma membrane	protein binding	g.chr20:43129878G>A	U49188	CCDS13333.1	20q13.12	2008-05-14	2005-11-15	2005-11-15	ENSG00000132824	ENSG00000132824			11699	protein-coding gene	gene with protein product		607165	"""tumor differentially expressed 1"""	TDE1		10559794	Standard	NM_006811		Approved	DIFF33, TDE, SBBI99, TMS-1, AIGP1	uc002xme.3	Q13530	OTTHUMG00000033087	ENST00000342374.4:c.1119C>T	20.37:g.43129878G>A						SERINC3_uc002xmf.1_Silent_p.I373I|SERINC3_uc010ggs.1_Silent_p.I366I|SERINC3_uc010zwp.1_Silent_p.I318I	p.I373I	NM_198941	NP_945179	Q13530	SERC3_HUMAN	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)		9	1253	-		Myeloproliferative disorder(115;0.0122)	373			Extracellular (Potential).		B4DUE9|O43717|Q9BR33	Silent	SNP	ENST00000342374.4	37	c.1119C>T	CCDS13333.1																																																																																				PASS	0.517	SERINC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080544.3	NM_006811		15	35	15	35	---	---	---	---
SON	6651	broad.mit.edu	37	21	34927341	34927341	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr21:34927341G>A	ENST00000356577.4	+	3	6279	c.5804G>A	c.(5803-5805)aGt>aAt	p.S1935N	SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Missense_Mutation_p.S1935N|SON_ENST00000381679.4_Missense_Mutation_p.S1935N|SON_ENST00000300278.4_Missense_Mutation_p.S1935N	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1935	2 X 19 AA repeats of P-S-R-R-R-R-S-R-S-V- V-R-R-R-S-F-S-I-S.|7 X 7 AA repeats of P-S-R-R-S-R-[TS].				cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.S1935N(2)		breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						CATACTCCAAGTCGTCGACGA	0.562																																						uc002yse.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)	6						c.(5803-5805)AGT>AAT		SON DNA-binding protein isoform F							33.0	33.0	33.0					21																	34927341		2194	4290	6484	SO:0001583	missense	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34927341G>A	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.5804G>A	21.37:g.34927341G>A	ENSP00000348984:p.Ser1935Asn					SON_uc002ysb.1_Missense_Mutation_p.S1935N|SON_uc002ysc.2_Missense_Mutation_p.S1935N|SON_uc002ysd.2_Missense_Mutation_p.S926N|SON_uc002ysf.1_Intron|SON_uc002ysg.2_Missense_Mutation_p.S926N	p.S1935N	NM_138927	NP_620305	P18583	SON_HUMAN			3	5853	+			1935			2 X 19 AA repeats of P-S-R-R-R-R-S-R-S-V- V-R-R-R-S-F-S-I-S.|3-1.|7 X 7 AA repeats of P-S-R-R-S-R-[TS].		D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	c.5804G>A	CCDS13629.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.25|13.25	2.181370|2.181370	0.38511|0.38511	.|.	.|.	ENSG00000159140|ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679|ENST00000436227	T;T;T;T|.	0.70045|.	-0.45;-0.45;-0.45;2.17|.	5.53|5.53	4.59|4.59	0.56863|0.56863	.|.	0.000000|.	0.64402|.	D|.	0.000014|.	T|T	0.21186|0.21186	0.0510|0.0510	N|N	0.08118|0.08118	0|0	0.27031|0.27031	N|N	0.964234|0.964234	D;D;D;D;D|.	0.76494|.	0.998;0.996;0.995;0.999;0.999|.	P;P;P;D;D|.	0.68943|.	0.905;0.806;0.836;0.929;0.961|.	T|T	0.10989|0.10989	-1.0606|-1.0606	10|5	0.45353|.	T|.	0.12|.	.|.	10.4335|10.4335	0.44421|0.44421	0.0:0.1248:0.6928:0.1825|0.0:0.1248:0.6928:0.1825	.|.	1935;1935;1616;1935;1935|.	P18583-10;P18583;P18583-2;P18583-3;P18583-6|.	.;SON_HUMAN;.;.;.|.	N|I	1935|930	ENSP00000348984:S1935N;ENSP00000290239:S1935N;ENSP00000300278:S1935N;ENSP00000371095:S1935N|.	ENSP00000290239:S1935N|.	S|V	+|+	2|1	0|0	SON|SON	33849211|33849211	0.977000|0.977000	0.34250|0.34250	0.982000|0.982000	0.44146|0.44146	0.984000|0.984000	0.73092|0.73092	1.820000|1.820000	0.39032|0.39032	2.607000|2.607000	0.88179|0.88179	0.655000|0.655000	0.94253|0.94253	AGT|GTC		PASS	0.562	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		7	51	7	51	---	---	---	---
SETD4	54093	broad.mit.edu	37	21	37408483	37408483	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr21:37408483T>A	ENST00000399215.1	-	10	2627	c.1255A>T	c.(1255-1257)Acg>Tcg	p.T419S	SETD4_ENST00000332131.4_Missense_Mutation_p.T419S|AP000688.1_ENST00000600312.1_Intron|SETD4_ENST00000481477.1_5'UTR|SETD4_ENST00000399212.1_Missense_Mutation_p.T395S			Q9NVD3	SETD4_HUMAN	SET domain containing 4	419				EILVKYLPSTDKQMDKKISILKDHGYIENLTFGWDGPSWRL LTALKLLCLEAEKFTCWKKVLLGEVISDTNEKTSLDIAQKI CYYFIEETNAVLQKVSHMKDEKEALINQLTLVESLWTEELK ILRASAETLHSLQTAFT -> GWNQLCS (in Ref. 5; AAH02898). {ECO:0000305}.			methyltransferase activity (GO:0008168)	p.T419S(1)		autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						AGCTCTTCCGTCCACAAGGAT	0.423																																						uc002yuw.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1255-1257)ACG>TCG		SET domain containing 4 isoform a							140.0	141.0	141.0					21																	37408483		2203	4300	6503	SO:0001583	missense	54093							g.chr21:37408483T>A	AK001660	CCDS13640.1, CCDS42923.1, CCDS74791.1, CCDS74792.1	21q22.13	2006-02-15	2006-02-15	2006-02-15	ENSG00000185917	ENSG00000185917			1258	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 27"", ""chromosome 21 open reading frame 18"""	C21orf27, C21orf18			Standard	XM_005261000		Approved		uc021wiy.1	Q9NVD3	OTTHUMG00000086483	ENST00000399215.1:c.1255A>T	21.37:g.37408483T>A	ENSP00000382163:p.Thr419Ser					SETD4_uc002yux.1_Missense_Mutation_p.T395S|SETD4_uc002yuu.2_RNA|SETD4_uc002yuv.2_Missense_Mutation_p.T419S	p.T419S	NM_017438	NP_059134	Q9NVD3	SETD4_HUMAN			10	2628	-			419	EILVKYLPSTDKQMDKKISILKDHGYIENLTFGWDGPSWRL LTALKLLCLEAEKFTCWKKVLLGEVISDTNEKTSLDIAQKI CYYFIEETNAVLQKVSHMKDEKEALINQLTLVESLWTEELK ILRASAETLHSLQTAFT -> GWNQLCS (in Ref. 5; AAH02898).				B4DT14|D3DSG2|D3DSG4|Q8NE19|Q9BU46	Missense_Mutation	SNP	ENST00000399215.1	37	c.1255A>T	CCDS13640.1	.	.	.	.	.	.	.	.	.	.	T	1.222	-0.626731	0.03610	.	.	ENSG00000185917	ENST00000399215;ENST00000399212;ENST00000332131	T;T;T	0.16897	2.31;2.31;2.31	5.57	0.27	0.15635	Rubisco LS methyltransferase, substrate-binding domain (1);	0.800098	0.11863	N	0.522216	T	0.10121	0.0248	L	0.44542	1.39	0.09310	N	0.999997	B;B	0.14012	0.007;0.009	B;B	0.18263	0.008;0.021	T	0.39742	-0.9599	10	0.09338	T	0.73	-13.6781	1.4149	0.02299	0.1207:0.236:0.2071:0.4362	.	395;419	Q9NVD3-3;Q9NVD3	.;SETD4_HUMAN	S	419;395;419	ENSP00000382163:T419S;ENSP00000382161:T395S;ENSP00000329189:T419S	ENSP00000329189:T419S	T	-	1	0	SETD4	36330353	0.000000	0.05858	0.454000	0.27019	0.044000	0.14063	0.089000	0.15002	0.399000	0.25367	0.460000	0.39030	ACG		PASS	0.423	SETD4-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194456.1	NM_017438		41	63	41	63	---	---	---	---
FAM3B	54097	broad.mit.edu	37	21	42720533	42720533	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr21:42720533C>G	ENST00000357985.2	+	7	646	c.500C>G	c.(499-501)gCc>gGc	p.A167G	FAM3B_ENST00000398647.3_Missense_Mutation_p.A119G|FAM3B_ENST00000398646.3_Missense_Mutation_p.A190G|FAM3B_ENST00000479810.2_3'UTR|FAM3B_ENST00000398652.3_Missense_Mutation_p.A206G	NM_058186.3	NP_478066.3	P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	167					apoptotic process (GO:0006915)|insulin secretion (GO:0030073)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)	p.A167G(1)		central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				AATAACGATGCCAAGAATGCC	0.468																																						uc002yzb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(499-501)GCC>GGC		family with sequence similarity 3, member B							113.0	98.0	103.0					21																	42720533		2203	4300	6503	SO:0001583	missense	54097				apoptosis|insulin secretion	extracellular space	cytokine activity	g.chr21:42720533C>G	AF494379	CCDS13671.1, CCDS42930.1	21q22.3	2014-08-14	2002-05-23	2002-06-20	ENSG00000183844	ENSG00000183844			1253	protein-coding gene	gene with protein product	"""pancreatic-derived factor"""	608617	"""chromosome 21 open reading frame 11"""	C21orf11			Standard	NM_058186		Approved	D21M16SJHU19e, PRED44, 2-21, ORF9, C21orf76, PANDER	uc002yzb.1	P58499	OTTHUMG00000086752	ENST00000357985.2:c.500C>G	21.37:g.42720533C>G	ENSP00000350673:p.Ala167Gly					FAM3B_uc002yza.2_RNA|FAM3B_uc002yzc.1_Missense_Mutation_p.A119G|FAM3B_uc002yzd.1_Missense_Mutation_p.A190G	p.A167G	NM_058186	NP_478066	P58499	FAM3B_HUMAN			7	646	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)	167						Missense_Mutation	SNP	ENST00000357985.2	37	c.500C>G	CCDS13671.1	.	.	.	.	.	.	.	.	.	.	C	10.01	1.233798	0.22626	.	.	ENSG00000183844	ENST00000357985;ENST00000398652;ENST00000398647;ENST00000398646	T;T;T;T	0.63417	0.22;0.22;-0.04;0.21	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000002	T	0.58666	0.2138	M	0.65975	2.015	0.53005	D	0.999961	B;B;B	0.34161	0.439;0.02;0.279	B;B;B	0.29267	0.1;0.033;0.056	T	0.62982	-0.6738	10	0.49607	T	0.09	.	13.752	0.62912	0.0:1.0:0.0:0.0	.	190;119;167	A8MTF8;P58499-3;P58499	.;.;FAM3B_HUMAN	G	167;206;119;190	ENSP00000350673:A167G;ENSP00000381646:A206G;ENSP00000381642:A119G;ENSP00000381641:A190G	ENSP00000350673:A167G	A	+	2	0	FAM3B	41642403	0.990000	0.36364	0.835000	0.33067	0.026000	0.11368	1.817000	0.39002	2.293000	0.77203	0.655000	0.94253	GCC		PASS	0.468	FAM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195142.1	NM_058186		8	36	8	36	---	---	---	---
XRCC6	2547	broad.mit.edu	37	22	42032651	42032651	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr22:42032651G>A	ENST00000359308.4	+	4	1121	c.466G>A	c.(466-468)Gat>Aat	p.D156N	XRCC6_ENST00000360079.3_Missense_Mutation_p.D156N|XRCC6_ENST00000405506.1_Missense_Mutation_p.D106N|XRCC6_ENST00000405878.1_Missense_Mutation_p.D156N|XRCC6_ENST00000428575.2_Missense_Mutation_p.D23N|XRCC6_ENST00000402580.3_Missense_Mutation_p.D115N			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	156					brain development (GO:0007420)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA ligation (GO:0006266)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)	p.D156N(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						CCTCTTTAGTGATGTCCAATT	0.507								Non-homologous end-joining																														uc003bao.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|lung(1)|kidney(1)	5						c.(466-468)GAT>AAT	Direct_reversal_of_damage|NHEJ	ATP-dependent DNA helicase II, 70 kDa subunit							92.0	83.0	86.0					22																	42032651		2203	4300	6503	SO:0001583	missense	2547				DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding	g.chr22:42032651G>A	J04607	CCDS14021.1, CCDS74870.1, CCDS74871.1	22q13.2	2011-09-12	2008-07-31	2005-05-06	ENSG00000196419	ENSG00000196419			4055	protein-coding gene	gene with protein product	"""Ku autoantigen, 70kDa"""	152690	"""thyroid autoantigen 70kD (Ku antigen)"", ""thyroid autoantigen 70kDa (Ku antigen)"""	G22P1		9200330, 9223317	Standard	NM_001469		Approved	D22S731, D22S671, KU70, ML8	uc003bao.1	P12956	OTTHUMG00000151190	ENST00000359308.4:c.466G>A	22.37:g.42032651G>A	ENSP00000352257:p.Asp156Asn					XRCC6_uc003bap.1_Missense_Mutation_p.D115N|XRCC6_uc011apc.1_Missense_Mutation_p.D106N|XRCC6_uc003baq.1_Missense_Mutation_p.D156N|XRCC6_uc003bar.1_Missense_Mutation_p.D156N|XRCC6_uc003bas.1_Missense_Mutation_p.D106N	p.D156N	NM_001469	NP_001460	P12956	XRCC6_HUMAN			5	536	+			156					B1AHC8|Q6FG89|Q9UCQ2|Q9UCQ3	Missense_Mutation	SNP	ENST00000359308.4	37	c.466G>A	CCDS14021.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.695263	0.30052	.	.	ENSG00000196419	ENST00000360079;ENST00000402580;ENST00000428575;ENST00000359308;ENST00000405878;ENST00000402409;ENST00000405506	.	.	.	5.71	1.41	0.22369	Ku70/Ku80, N-terminal alpha/beta (1);	0.303458	0.39834	N	0.001252	T	0.35799	0.0944	N	0.20610	0.595	0.45762	D	0.99865	B;B;B;B	0.15473	0.0;0.0;0.013;0.0	B;B;B;B	0.19148	0.001;0.002;0.024;0.001	T	0.06698	-1.0812	9	0.15066	T	0.55	-10.6185	8.7217	0.34445	0.3462:0.0:0.6538:0.0	.	106;156;115;156	B1AHC9;B1AHC7;B1AHC8;P12956	.;.;.;XRCC6_HUMAN	N	156;115;23;156;156;156;106	.	ENSP00000352257:D156N	D	+	1	0	XRCC6	40362597	1.000000	0.71417	0.739000	0.30968	0.994000	0.84299	3.254000	0.51477	0.104000	0.17725	0.655000	0.94253	GAT		PASS	0.507	XRCC6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321688.1	NM_001469		7	64	7	64	---	---	---	---
MXRA5	25878	broad.mit.edu	37	X	3248704	3248704	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chrX:3248704C>A	ENST00000217939.6	-	3	453	c.299G>T	c.(298-300)aGa>aTa	p.R100I		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	100						extracellular vesicular exosome (GO:0070062)		p.R100I(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCTGAGGTCTCTTAAAGCTCC	0.438																																						uc004crg.3																			2	Substitution - Missense(2)		lung(2)	ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(298-300)AGA>ATA		adlican precursor							136.0	121.0	126.0					X																	3248704		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3248704C>A	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.299G>T	X.37:g.3248704C>A	ENSP00000217939:p.Arg100Ile						p.R100I	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			3	456	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	100			LRR 2.		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.299G>T	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	C	9.984	1.228835	0.22542	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.02472	4.28	3.58	0.0639	0.14351	.	0.202571	0.24318	U	0.039568	T	0.08313	0.0207	M	0.66378	2.025	0.20489	N	0.999893	D	0.59767	0.986	P	0.61800	0.894	T	0.07139	-1.0788	10	0.72032	D	0.01	.	6.7659	0.23566	0.0:0.3922:0.0:0.6078	.	100	Q9NR99	MXRA5_HUMAN	I	100	ENSP00000217939:R100I	ENSP00000217939:R100I	R	-	2	0	MXRA5	3258704	0.550000	0.26489	0.003000	0.11579	0.106000	0.19336	0.459000	0.21908	0.082000	0.17018	0.417000	0.27973	AGA		PASS	0.438	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		4	45	4	45	---	---	---	---
ZNF711	7552	broad.mit.edu	37	X	84526736	84526736	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chrX:84526736G>A	ENST00000373165.3	+	9	2494	c.2188G>A	c.(2188-2190)Gac>Aac	p.D730N	ZNF711_ENST00000360700.4_Missense_Mutation_p.D776N|ZNF711_ENST00000542798.1_Missense_Mutation_p.D572N|ZNF711_ENST00000276123.3_Missense_Mutation_p.D730N|ZNF711_ENST00000395402.1_Missense_Mutation_p.D738N	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	730					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.D740N(1)|p.D730N(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						ACATACAAAAGACTATCCACA	0.388																																						uc004eeo.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(1)	4						c.(2188-2190)GAC>AAC		zinc finger protein 711							79.0	70.0	73.0					X																	84526736		2200	4298	6498	SO:0001583	missense	7552				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chrX:84526736G>A	BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"""Zinc fingers, C2H2-type"""	13128	protein-coding gene	gene with protein product		314990	"""zinc finger protein 6 (CMPX1)"", ""zinc finger protein 6"""	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.2188G>A	X.37:g.84526736G>A	ENSP00000362260:p.Asp730Asn					ZNF711_uc004eep.2_Missense_Mutation_p.D730N|ZNF711_uc004eeq.2_Missense_Mutation_p.D776N|ZNF711_uc011mqy.1_Missense_Mutation_p.D329N	p.D730N	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN			9	2535	+			730					B4DSV4|Q6NX42|Q9Y4J6	Missense_Mutation	SNP	ENST00000373165.3	37	c.2188G>A	CCDS35344.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921477	0.73213	.	.	ENSG00000147180	ENST00000395402;ENST00000373165;ENST00000276123;ENST00000360700;ENST00000542798	T;T;T;T;T	0.15372	2.43;2.43;2.43;2.43;2.43	4.75	4.75	0.60458	Zinc finger, C2H2 (1);	0.000000	0.46145	D	0.000312	T	0.31327	0.0793	L	0.28776	0.89	0.80722	D	1	D;D	0.71674	0.998;0.972	D;P	0.78314	0.991;0.753	T	0.08973	-1.0696	10	0.59425	D	0.04	-9.1478	17.2601	0.87067	0.0:0.0:1.0:0.0	.	776;730	Q9Y462-3;Q9Y462	.;ZN711_HUMAN	N	738;730;730;776;572	ENSP00000378798:D738N;ENSP00000362260:D730N;ENSP00000276123:D730N;ENSP00000353922:D776N;ENSP00000442071:D572N	ENSP00000276123:D730N	D	+	1	0	ZNF711	84413392	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.086000	0.62901	0.506000	0.49869	GAC		PASS	0.388	ZNF711-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057388.2	NM_021998		5	56	5	56	---	---	---	---
ALG13	79868	broad.mit.edu	37	X	110970887	110970887	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chrX:110970887G>T	ENST00000394780.3	+	18	2148	c.2136G>T	c.(2134-2136)gaG>gaT	p.E712D	ALG13_ENST00000470971.1_3'UTR|ALG13_ENST00000251943.4_Missense_Mutation_p.E608D	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	712					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)	p.E608D(1)|p.E712D(1)|p.E113D(1)		endometrium(2)|lung(10)|skin(1)	13						TGAATAAGGAGTCCCAGTATG	0.383																																						uc011msy.1																			3	Substitution - Missense(3)		lung(3)	lung(1)	1						c.(2134-2136)GAG>GAT		SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae);							60.0	52.0	54.0					X																	110970887		1568	3582	5150	SO:0001583	missense	79868				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	g.chrX:110970887G>T	AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"""Tudor domain containing"", ""OTU domain containing"""	30881	protein-coding gene	gene with protein product	"""tudor domain containing 13"", ""N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"""	300776	"""glycosyltransferase 28 domain containing 1"", ""chromosome X open reading frame 45"", ""asparagine-linked glycosylation 13 homolog (S. cerevisiae)"""	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.2136G>T	X.37:g.110970887G>T	ENSP00000378260:p.Glu712Asp					ALG13_uc011msx.1_Missense_Mutation_p.E608D|ALG13_uc011msz.1_Missense_Mutation_p.E634D|ALG13_uc011mta.1_Missense_Mutation_p.E608D|ALG13_uc011mtb.1_Missense_Mutation_p.E608D	p.E712D			Q9NP73	ALG13_HUMAN			18	2170	+			712					B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Missense_Mutation	SNP	ENST00000394780.3	37	c.2136G>T	CCDS55477.1	.	.	.	.	.	.	.	.	.	.	G	4.898	0.166866	0.09339	.	.	ENSG00000101901	ENST00000251943;ENST00000394780;ENST00000436609	T;T	0.61510	0.96;0.1	5.39	-6.44	0.01920	.	0.204155	0.50627	N	0.000116	T	0.57695	0.2071	L	0.58101	1.795	0.27850	N	0.940771	P;B;D	0.61080	0.952;0.087;0.989	P;B;P	0.58620	0.474;0.021;0.842	T	0.60239	-0.7302	10	0.17369	T	0.5	-3.2862	12.5656	0.56308	0.6568:0.0868:0.2564:0.0	.	634;712;608	Q9NP73-3;Q9NP73;Q9NP73-4	.;ALG13_HUMAN;.	D	608;712;345	ENSP00000251943:E608D;ENSP00000378260:E712D	ENSP00000251943:E608D	E	+	3	2	ALG13	110857543	0.185000	0.23213	0.425000	0.26659	0.075000	0.17131	-0.560000	0.05964	-1.680000	0.01450	-0.199000	0.12753	GAG		PASS	0.383	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466		22	9	22	9	---	---	---	---
PIEZO1	9780	broad.mit.edu	37	16	88787608	88787610	+	In_Frame_Del	DEL	CTT	CTT	-	rs3217718|rs150376294|rs113773794	byFrequency	TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr16:88787608_88787610delCTT	ENST00000301015.9	-	39	5878_5880	c.5632_5634delAAG	c.(5632-5634)aagdel	p.K1878del	PIEZO1_ENST00000327397.7_5'Flank|RP5-1142A6.9_ENST00000564984.1_RNA	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1	1878					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)	p.K1878delK(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						CTGGGCCCTCCTTCTTCCTTCTT	0.616														1081	0.215855	0.1452	0.2003	5008	,	,		19820	0.0774		0.334	False		,,,				2504	0.3436					uc010vpb.1																			1	Deletion - In frame(1)		breast(1)		0						c.(5632-5634)AAGdel		family with sequence similarity 38, member A				433,2117		88,257,930						3.8	0.1		dbSNP_131	32	1667,3279		392,883,1198	no	coding	PIEZO1	NM_001142864.2		480,1140,2128	A1A1,A1R,RR		33.704,16.9804,28.0149				2100,5396				SO:0001651	inframe_deletion	9780					endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane|plasma membrane	ion channel activity	g.chr16:88787608_88787610delCTT	D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"""family with sequence similarity 38, member A"""	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776	ENST00000301015.9:c.5632_5634delAAG	16.37:g.88787611_88787613delCTT	ENSP00000301015:p.Lys1878del					FAM38A_uc002flp.3_5'Flank|FAM38A_uc002flq.3_5'Flank|FAM38A_uc002flr.3_In_Frame_Del_p.K1446del|FAM38A_uc010cib.2_In_Frame_Del_p.K741del	p.K1878del	NM_001142864	NP_001136336	Q92508	PIEZ1_HUMAN			39	5635_5637	-			1878					A6NHT9|A7E2B7|Q0KKZ9	In_Frame_Del	DEL	ENST00000301015.9	37	c.5632_5634delAAG	CCDS54058.1																																																																																					0.616	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000345699.4	NM_014745		2	7	2	7	---	---	---	---
PPM1E	22843	broad.mit.edu	37	17	56833644	56833646	+	In_Frame_Del	DEL	GAG	GAG	-	rs544816257		TCGA-18-3415-01A-01D-0983-08	TCGA-18-3415-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ad0365d1-10b1-41e6-b838-9c5794b9ad42	f060d74c-e8d1-4498-b733-232465202974	g.chr17:56833644_56833646delGAG	ENST00000308249.2	+	1	415_417	c.286_288delGAG	c.(286-288)gagdel	p.E100del		NM_014906.4	NP_055721.3	Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	0	PP2C-like.				protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145)			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			ggttgagggtgaggaggaggagg	0.783																																						uc002iwx.2																			0				breast(3)|lung(1)|skin(1)	5						c.(286-288)GAGdel		protein phosphatase 1E				173,3033		18,137,1448						0.3	0.0			5	371,5843		38,295,2774	no	coding	PPM1E	NM_014906.3		56,432,4222	A1A1,A1R,RR		5.9704,5.3961,5.7749				544,8876				SO:0001651	inframe_deletion	22843				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr17:56833644_56833646delGAG	AB028995	CCDS11613.1	17q24.2	2012-04-17	2010-03-05		ENSG00000175175	ENSG00000175175		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	19322	protein-coding gene	gene with protein product	"""partner of PIX 1"", ""nuclear calmodulin-dependent protein kinase phosphatase"""		"""protein phosphatase 1E (PP2C domain containing)"""			11864573, 10470851	Standard	NR_048561		Approved	POPX1, KIAA1072, PP2CH, CaMKP-N	uc002iwx.4	Q8WY54		ENST00000308249.2:c.286_288delGAG	17.37:g.56833653_56833655delGAG	ENSP00000312411:p.Glu100del					PPM1E_uc010ddd.2_5'UTR	p.E100del	NM_014906	NP_055721	Q8WY54	PPM1E_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.76e-11)		1	413_415	+	Medulloblastoma(34;0.127)|all_neural(34;0.237)		100			Glu-rich.|Pro-rich.		Q8N8J9|Q96DB8	In_Frame_Del	DEL	ENST00000308249.2	37	c.286_288delGAG	CCDS11613.1																																																																																					0.783	PPM1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445458.1	NM_014906		3	3	3	3	---	---	---	---
