#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
NECAP2	55707	broad.mit.edu	37	1	16775693	16775693	+	Silent	SNP	C	C	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr1:16775693C>T	ENST00000337132.5	+	5	576	c.486C>T	c.(484-486)atC>atT	p.I162I	NECAP2_ENST00000406746.1_Silent_p.I162I|NECAP2_ENST00000504551.2_Silent_p.I101I|NECAP2_ENST00000443980.2_Silent_p.I162I|NECAP2_ENST00000457722.2_Silent_p.I136I	NM_001145278.1|NM_018090.4	NP_001138750.1|NP_060560.1	Q9NVZ3	NECP2_HUMAN	NECAP endocytosis associated 2	162					endocytosis (GO:0006897)|protein transport (GO:0015031)	clathrin vesicle coat (GO:0030125)|coated pit (GO:0005905)|intracellular (GO:0005622)|plasma membrane (GO:0005886)		p.I162I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		AGCTCAACATCGCAGTGAGTT	0.527																																						uc001ayo.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(484-486)ATC>ATT		NECAP endocytosis associated 2 isoform 1							70.0	53.0	59.0					1																	16775693		2203	4300	6503	SO:0001819	synonymous_variant	55707				endocytosis|protein transport	clathrin vesicle coat|coated pit|plasma membrane		g.chr1:16775693C>T	AK021938	CCDS173.1, CCDS44066.1, CCDS44067.1	1p36.13	2008-02-05			ENSG00000157191	ENSG00000157191			25528	protein-coding gene	gene with protein product		611624				14555962, 15494011	Standard	NM_001145277		Approved	FLJ10420	uc001ayq.3	Q9NVZ3	OTTHUMG00000002313	ENST00000337132.5:c.486C>T	1.37:g.16775693C>T						NECAP2_uc001ayp.3_RNA|NECAP2_uc010ocd.1_Silent_p.I136I|NECAP2_uc001ayq.2_Silent_p.I162I	p.I162I	NM_018090	NP_060560	Q9NVZ3	NECP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)	5	576	+		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	162					B4DY19|E9PGQ8|Q5VSU4|Q5VSU5|Q9H7L1|Q9H8L1	Silent	SNP	ENST00000337132.5	37	c.486C>T	CCDS173.1																																																																																				PASS	0.527	NECAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006680.2	NM_018090		6	12	6	12	---	---	---	---
EPHA8	2046	broad.mit.edu	37	1	22913107	22913107	+	Missense_Mutation	SNP	C	C	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr1:22913107C>T	ENST00000166244.3	+	4	1030	c.958C>T	c.(958-960)Ccg>Tcg	p.P320S	EPHA8_ENST00000374644.4_Missense_Mutation_p.P320S|EPHA8_ENST00000538803.1_Missense_Mutation_p.P320S	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	320	Cys-rich.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.P320S(2)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGCCCTGGACCCGCCGTCCTC	0.677																																						uc001bfx.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13						c.(958-960)CCG>TCG		ephrin receptor EphA8 isoform 1 precursor							42.0	43.0	43.0					1																	22913107		2203	4300	6503	SO:0001583	missense	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22913107C>T	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.958C>T	1.37:g.22913107C>T	ENSP00000166244:p.Pro320Ser					EPHA8_uc001bfw.2_Missense_Mutation_p.P320S	p.P320S	NM_020526	NP_065387	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	4	1083	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	320			Extracellular (Potential).|Cys-rich.		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	37	c.958C>T	CCDS225.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.851713	0.51270	.	.	ENSG00000070886	ENST00000166244;ENST00000374644;ENST00000538803	T;T;T	0.28069	1.63;5.05;5.05	4.05	4.05	0.47172	.	0.067001	0.64402	D	0.000010	T	0.29976	0.0750	L	0.54323	1.7	0.49798	D	0.999827	B;B	0.28801	0.146;0.223	B;B	0.24269	0.038;0.052	T	0.15838	-1.0423	10	0.45353	T	0.12	.	15.3	0.73940	0.0:1.0:0.0:0.0	.	320;320	P29322;P29322-2	EPHA8_HUMAN;.	S	320	ENSP00000166244:P320S;ENSP00000363775:P320S;ENSP00000440274:P320S	ENSP00000166244:P320S	P	+	1	0	EPHA8	22785694	1.000000	0.71417	0.995000	0.50966	0.977000	0.68977	3.083000	0.50136	2.265000	0.75225	0.455000	0.32223	CCG		PASS	0.677	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		17	24	17	24	---	---	---	---
PTPRU	10076	broad.mit.edu	37	1	29609186	29609186	+	Splice_Site	SNP	A	A	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr1:29609186A>T	ENST00000345512.3	+	12	1997		c.e12-1		PTPRU_ENST00000323874.8_Splice_Site|PTPRU_ENST00000428026.2_Splice_Site|PTPRU_ENST00000356870.3_Splice_Site|PTPRU_ENST00000460170.2_Splice_Site|PTPRU_ENST00000373779.3_Splice_Site|PTPRU_ENST00000415600.2_Splice_Site	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U						canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.?(3)		breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CTCCCTGTCCAGTGTGTACCA	0.647																																						uc001bru.2																			3	Unknown(3)		lung(3)	large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7						c.e12-2		protein tyrosine phosphatase, receptor type, U							41.0	36.0	38.0					1																	29609186		2203	4300	6503	SO:0001630	splice_region_variant	10076				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:29609186A>T	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.1869-1A>T	1.37:g.29609186A>T						PTPRU_uc001brv.2_Splice_Site_p.S623_splice|PTPRU_uc001brw.2_Splice_Site_p.S623_splice|PTPRU_uc009vtq.2_Splice_Site_p.S623_splice|PTPRU_uc009vtr.2_Splice_Site_p.S623_splice	p.S623_splice	NM_005704	NP_005695	Q92729	PTPRU_HUMAN		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)	12	1979	+		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)						A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Splice_Site	SNP	ENST00000345512.3	37	c.1869_splice	CCDS334.1	.	.	.	.	.	.	.	.	.	.	A	17.50	3.406306	0.62288	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8189	0.70055	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTPRU	29481773	1.000000	0.71417	0.961000	0.40146	0.495000	0.33615	7.327000	0.79147	2.100000	0.63781	0.448000	0.29417	.		PASS	0.647	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1		Intron	8	37	8	37	---	---	---	---
WDR63	126820	broad.mit.edu	37	1	85564330	85564330	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr1:85564330G>A	ENST00000294664.6	+	13	1648	c.1468G>A	c.(1468-1470)Gac>Aac	p.D490N	WDR63_ENST00000370596.1_Missense_Mutation_p.D451N|WDR63_ENST00000326813.8_Missense_Mutation_p.D451N	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	490								p.D490N(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		CTGGTTGTCTGACACATTTGA	0.348																																						uc001dkt.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5						c.(1468-1470)GAC>AAC		WD repeat domain 63							109.0	111.0	111.0					1																	85564330		2203	4297	6500	SO:0001583	missense	126820							g.chr1:85564330G>A		CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"""WD repeat domain containing"""	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.1468G>A	1.37:g.85564330G>A	ENSP00000294664:p.Asp490Asn					WDR63_uc009wcl.2_Missense_Mutation_p.D451N	p.D490N	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN		all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)	13	1659	+			490			WD 2.		A8K988|Q96L72|Q96NU4	Missense_Mutation	SNP	ENST00000294664.6	37	c.1468G>A	CCDS702.1	.	.	.	.	.	.	.	.	.	.	G	6.508	0.461875	0.12342	.	.	ENSG00000162643	ENST00000370596;ENST00000326813;ENST00000294664	T;T;T	0.62498	0.02;0.02;0.02	6.02	5.11	0.69529	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.301242	0.41194	N	0.000928	T	0.31949	0.0813	L	0.33668	1.02	0.09310	N	1	B;B	0.26002	0.139;0.051	B;B	0.28709	0.058;0.093	T	0.12477	-1.0546	10	0.34782	T	0.22	-7.445	10.8198	0.46597	0.144:0.0:0.856:0.0	.	451;490	Q8IWG1-2;Q8IWG1	.;WDR63_HUMAN	N	451;451;490	ENSP00000359628:D451N;ENSP00000317463:D451N;ENSP00000294664:D490N	ENSP00000294664:D490N	D	+	1	0	WDR63	85336918	0.742000	0.28228	0.028000	0.17463	0.053000	0.15095	1.717000	0.37991	1.558000	0.49541	0.650000	0.86243	GAC		PASS	0.348	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	NM_145172		49	61	49	61	---	---	---	---
PALMD	54873	broad.mit.edu	37	1	100154844	100154844	+	Missense_Mutation	SNP	C	C	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr1:100154844C>T	ENST00000263174.4	+	7	1403	c.1028C>T	c.(1027-1029)cCg>cTg	p.P343L	PALMD_ENST00000605497.1_Missense_Mutation_p.P343L	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	343					regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)		p.P343L(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		CTTCACACCCCGCAAAAAAGG	0.488																																						uc001dsg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1027-1029)CCG>CTG		palmdelphin							60.0	57.0	58.0					1																	100154844		2203	4300	6503	SO:0001583	missense	54873				regulation of cell shape	cytoplasm|membrane		g.chr1:100154844C>T	AJ312214	CCDS758.1	1p22-p21	2008-07-18			ENSG00000099260	ENSG00000099260			15846	protein-coding gene	gene with protein product		610182		C1orf11		11478809	Standard	NM_017734		Approved	FLJ20271, PALML	uc001dsg.3	Q9NP74	OTTHUMG00000010764	ENST00000263174.4:c.1028C>T	1.37:g.100154844C>T	ENSP00000263174:p.Pro343Leu					PALMD_uc001dsf.2_Missense_Mutation_p.P343L	p.P343L	NM_017734	NP_060204	Q9NP74	PALMD_HUMAN		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)	7	1471	+		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)	343					Q9H7E6|Q9NPM5|Q9NPM6|Q9NPS0	Missense_Mutation	SNP	ENST00000263174.4	37	c.1028C>T	CCDS758.1	.	.	.	.	.	.	.	.	.	.	C	1.770	-0.484635	0.04352	.	.	ENSG00000099260	ENST00000263174	T	0.18338	2.22	5.76	-0.847	0.10730	.	1.464360	0.03710	N	0.250026	T	0.02083	0.0065	N	0.08118	0	0.09310	N	1	B;B	0.18741	0.01;0.03	B;B	0.12156	0.002;0.007	T	0.39482	-0.9612	10	0.16420	T	0.52	0.7061	5.8298	0.18574	0.6825:0.1378:0.0893:0.0904	.	343;263	Q9NP74;Q9NP74-2	PALMD_HUMAN;.	L	343	ENSP00000263174:P343L	ENSP00000263174:P343L	P	+	2	0	PALMD	99927432	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.539000	0.06113	-0.043000	0.13513	0.563000	0.77884	CCG		PASS	0.488	PALMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029672.1	NM_017734		25	37	25	37	---	---	---	---
RSBN1	54665	broad.mit.edu	37	1	114319901	114319901	+	Missense_Mutation	SNP	A	A	G			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr1:114319901A>G	ENST00000261441.5	-	4	1652	c.1589T>C	c.(1588-1590)aTg>aCg	p.M530T		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	530						nucleus (GO:0005634)		p.M530T(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCTTACCCACATTATAGGCCC	0.443																																						uc001edq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1588-1590)ATG>ACG		round spermatid basic protein 1							160.0	154.0	156.0					1																	114319901		2203	4300	6503	SO:0001583	missense	54665					nucleus		g.chr1:114319901A>G	AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.1589T>C	1.37:g.114319901A>G	ENSP00000261441:p.Met530Thr					RSBN1_uc001edr.2_RNA	p.M530T	NM_018364	NP_060834	Q5VWQ0	RSBN1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	1625	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	530					A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Missense_Mutation	SNP	ENST00000261441.5	37	c.1589T>C	CCDS862.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.497455	0.85069	.	.	ENSG00000081019	ENST00000261441	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.52805	0.1757	L	0.60455	1.87	0.80722	D	1	D	0.56968	0.978	P	0.47402	0.546	T	0.61372	-0.7076	9	0.87932	D	0	-10.1857	16.3322	0.83039	1.0:0.0:0.0:0.0	.	530	Q5VWQ0	RSBN1_HUMAN	T	530	.	ENSP00000261441:M530T	M	-	2	0	RSBN1	114121424	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.210000	0.95106	2.251000	0.74343	0.528000	0.53228	ATG		PASS	0.443	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2	NM_018364		47	110	47	110	---	---	---	---
IGSF3	3321	broad.mit.edu	37	1	117131648	117131648	+	Missense_Mutation	SNP	A	A	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr1:117131648A>T	ENST00000369486.3	-	8	2873	c.2108T>A	c.(2107-2109)gTc>gAc	p.V703D	IGSF3_ENST00000369483.1_Missense_Mutation_p.V723D|IGSF3_ENST00000318837.6_Missense_Mutation_p.V723D	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	703	Ig-like C2-type 6.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.V703D(1)|p.V723D(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CTGAGACTTGACTGAGCAGTT	0.527																																						uc001egr.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(2107-2109)GTC>GAC		immunoglobulin superfamily, member 3 isoform 2							120.0	112.0	115.0					1																	117131648		2203	4300	6503	SO:0001583	missense	3321					integral to membrane		g.chr1:117131648A>T	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.2108T>A	1.37:g.117131648A>T	ENSP00000358498:p.Val703Asp					IGSF3_uc001egq.1_Missense_Mutation_p.V723D|IGSF3_uc001egs.1_Missense_Mutation_p.V376D	p.V703D	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	8	2813	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	703			Ig-like C2-type 6.|Extracellular (Potential).		A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	c.2108T>A	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	A	19.99	3.928117	0.73327	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.66995	-0.24;-0.24;-0.24	4.16	4.16	0.48862	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.156902	0.43579	D	0.000543	T	0.67590	0.2909	L	0.46157	1.445	0.80722	D	1	D;D;D	0.64830	0.993;0.994;0.994	D;D;D	0.69824	0.943;0.938;0.966	T	0.72597	-0.4245	10	0.87932	D	0	-36.7122	11.1892	0.48675	1.0:0.0:0.0:0.0	.	723;703;723	O75054-2;O75054;A6NJZ6	.;IGSF3_HUMAN;.	D	703;723;723	ENSP00000358498:V703D;ENSP00000358495:V723D;ENSP00000321184:V723D	ENSP00000321184:V723D	V	-	2	0	IGSF3	116933171	1.000000	0.71417	0.978000	0.43139	0.968000	0.65278	8.390000	0.90175	1.749000	0.51849	0.379000	0.24179	GTC		PASS	0.527	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		46	101	46	101	---	---	---	---
ANKRD35	148741	broad.mit.edu	37	1	145562900	145562900	+	Missense_Mutation	SNP	C	C	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr1:145562900C>T	ENST00000355594.4	+	10	2675	c.2588C>T	c.(2587-2589)gCc>gTc	p.A863V		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	863								p.A863V(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TATAATACGGCCTGCCGGGAA	0.677																																					Melanoma(9;127 754 22988 51047)	uc001eob.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(2587-2589)GCC>GTC		ankyrin repeat domain 35							17.0	21.0	20.0					1																	145562900		2202	4289	6491	SO:0001583	missense	148741							g.chr1:145562900C>T	AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"""Ankyrin repeat domain containing"""	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.2588C>T	1.37:g.145562900C>T	ENSP00000347802:p.Ala863Val					NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Missense_Mutation_p.A706V	p.A863V	NM_144698	NP_653299	Q8N283	ANR35_HUMAN			10	2696	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		863			Potential.		A6NEU0|B4DL62|Q3MJ10|Q96LS3	Missense_Mutation	SNP	ENST00000355594.4	37	c.2588C>T	CCDS919.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.530847	0.45073	.	.	ENSG00000198483	ENST00000453670;ENST00000355594	T	0.53640	0.61	5.49	5.49	0.81192	.	0.000000	0.53938	D	0.000053	T	0.57562	0.2062	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.54912	-0.8222	10	0.48119	T	0.1	-14.2624	14.7509	0.69525	0.0:1.0:0.0:0.0	.	863	Q8N283	ANR35_HUMAN	V	772;863	ENSP00000347802:A863V	ENSP00000347802:A863V	A	+	2	0	ANKRD35	144274257	0.917000	0.31117	0.989000	0.46669	0.432000	0.31715	2.664000	0.46783	2.857000	0.98124	0.650000	0.86243	GCC		PASS	0.677	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		7	19	7	19	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152283513	152283513	+	Silent	SNP	G	G	A	rs576683386	byFrequency	TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr1:152283513G>A	ENST00000368799.1	-	3	3884	c.3849C>T	c.(3847-3849)tcC>tcT	p.S1283S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1283	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.S1283S(2)		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)			ACAACCTCTCGGAGTCGTCTG	0.552									Ichthyosis				g|||	4	0.000798722	0.003	0.0	5008	,	,		20950	0.0		0.0	False		,,,				2504	0.0					uc001ezu.1																			2	Substitution - coding silent(2)		lung(2)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(3847-3849)TCC>TCT		filaggrin							205.0	200.0	202.0					1																	152283513		2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:152283513G>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.3849C>T	1.37:g.152283513G>A						uc001ezv.2_5'Flank	p.S1283S	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3885	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1283			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.3849C>T	CCDS30860.1																																																																																				PASS	0.552	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		111	238	111	238	---	---	---	---
INTS3	65123	broad.mit.edu	37	1	153735804	153735804	+	Silent	SNP	C	C	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr1:153735804C>T	ENST00000318967.2	+	16	2300	c.1732C>T	c.(1732-1734)Ctg>Ttg	p.L578L	INTS3_ENST00000512605.1_Silent_p.L372L|INTS3_ENST00000435409.2_Silent_p.L578L|INTS3_ENST00000456435.1_Silent_p.L372L|INTS3_ENST00000476843.1_3'UTR	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	579					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)|snRNA processing (GO:0016180)	integrator complex (GO:0032039)|nucleus (GO:0005634)|SOSS complex (GO:0070876)		p.L578L(1)		breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGATGAGTCCCTGAGGGACAA	0.512																																						uc009wom.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(1732-1734)CTG>TTG		integrator complex subunit 3							138.0	132.0	134.0					1																	153735804		2203	4300	6503	SO:0001819	synonymous_variant	65123				DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding	g.chr1:153735804C>T	BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"""sensor of single-strand DNA complex subunit A"""	611347	"""chromosome 1 open reading frame 60"""	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.1732C>T	1.37:g.153735804C>T						INTS3_uc001fct.2_Silent_p.L578L|INTS3_uc001fcu.2_Silent_p.L270L|INTS3_uc001fcv.2_Silent_p.L372L|INTS3_uc010peb.1_Silent_p.L372L|INTS3_uc001fcw.2_Silent_p.L91L|INTS3_uc010pec.1_Silent_p.L91L	p.L578L	NM_023015	NP_075391	Q68E01	INT3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		17	1953	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		579					A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Silent	SNP	ENST00000318967.2	37	c.1732C>T	CCDS1052.1																																																																																				PASS	0.512	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090045.2	NM_023015		4	176	4	176	---	---	---	---
TDRD10	126668	broad.mit.edu	37	1	154492811	154492811	+	Missense_Mutation	SNP	A	A	G	rs370275136		TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr1:154492811A>G	ENST00000368480.3	+	5	258	c.173A>G	c.(172-174)aAc>aGc	p.N58S	TDRD10_ENST00000368482.4_Missense_Mutation_p.N58S			Q5VZ19	TDR10_HUMAN	tudor domain containing 10	58	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.N58S(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			AAGGACTTCAACCCTCTTGAT	0.418																																						uc009wow.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(172-174)AAC>AGC		tudor domain containing 10 isoform a			SER/ASN,SER/ASN	1,3859		0,1,1929	157.0	152.0	153.0		173,173	-2.1	0.8	1		153	0,8286		0,0,4143	no	missense,missense	TDRD10	NM_001098475.1,NM_182499.3	46,46	0,1,6072	GG,GA,AA		0.0,0.0259,0.0082	benign,benign	58/367,58/352	154492811	1,12145	1930	4143	6073	SO:0001583	missense	126668						nucleotide binding|RNA binding	g.chr1:154492811A>G	AL713777	CCDS30878.2, CCDS41406.1	1q21.3	2013-02-12			ENSG00000163239	ENSG00000163239		"""Tudor domain containing"", ""RNA binding motif (RRM) containing"""	25316	protein-coding gene	gene with protein product						12975309	Standard	NM_182499		Approved	DKFZp434M202	uc009wow.3	Q5VZ19	OTTHUMG00000037264	ENST00000368480.3:c.173A>G	1.37:g.154492811A>G	ENSP00000357465:p.Asn58Ser					TDRD10_uc001ffd.2_Missense_Mutation_p.N58S|TDRD10_uc001ffe.2_5'Flank	p.N58S	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		5	1011	+	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		58			RRM.		A4FU09|B0QZ53|B4DXV4|Q3ZCP1|Q3ZCS7|Q5SXY7|Q6UXV2|Q8TCN3	Missense_Mutation	SNP	ENST00000368480.3	37	c.173A>G	CCDS41406.1	.	.	.	.	.	.	.	.	.	.	a	8.981	0.975384	0.18736	2.59E-4	0.0	ENSG00000163239	ENST00000368482;ENST00000368480	T;T	0.74002	-0.8;-0.8	3.78	-2.14	0.07123	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.	.	.	.	T	0.28764	0.0713	N	0.10707	0.03	0.09310	N	0.999995	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.23154	-1.0196	9	0.44086	T	0.13	.	7.6332	0.28251	0.5384:0.0:0.4616:0.0	.	58;58	Q5VZ19;Q5VZ19-2	TDR10_HUMAN;.	S	58	ENSP00000357467:N58S;ENSP00000357465:N58S	ENSP00000357465:N58S	N	+	2	0	TDRD10	152759435	0.000000	0.05858	0.757000	0.31301	0.510000	0.34073	-3.263000	0.00535	-0.489000	0.06716	-1.111000	0.02071	AAC		PASS	0.418	TDRD10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090700.2	NM_182499		28	62	28	62	---	---	---	---
CHRNB2	1141	broad.mit.edu	37	1	154544002	154544002	+	Missense_Mutation	SNP	C	C	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr1:154544002C>T	ENST00000368476.3	+	5	967	c.703C>T	c.(703-705)Ctc>Ttc	p.L235F		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	235					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)	p.L235F(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	CCGCAAGCCGCTCTTCTACAC	0.572																																						uc001ffg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(703-705)CTC>TTC		neuronal nicotinic acetylcholine receptor beta 2	Nicotine(DB00184)						344.0	266.0	292.0					1																	154544002		2203	4300	6503	SO:0001583	missense	1141				B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr1:154544002C>T	U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1962	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 2 (neuronal)"""	118507	"""cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"""			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.703C>T	1.37:g.154544002C>T	ENSP00000357461:p.Leu235Phe						p.L235F	NM_000748	NP_000739	P17787	ACHB2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		5	967	+	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		235			Helical; (Potential).		Q9UEH9	Missense_Mutation	SNP	ENST00000368476.3	37	c.703C>T	CCDS1070.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.500050	0.85176	.	.	ENSG00000160716	ENST00000368476	D	0.87650	-2.28	4.1	4.1	0.47936	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.92718	0.7685	M	0.84156	2.68	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.93974	0.7252	10	0.87932	D	0	.	16.1089	0.81244	0.0:1.0:0.0:0.0	.	235	P17787	ACHB2_HUMAN	F	235	ENSP00000357461:L235F	ENSP00000357461:L235F	L	+	1	0	CHRNB2	152810626	1.000000	0.71417	0.986000	0.45419	0.964000	0.63967	7.597000	0.82733	2.095000	0.63458	0.467000	0.42956	CTC		PASS	0.572	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090697.1	NM_000748		50	134	50	134	---	---	---	---
CRABP2	1382	broad.mit.edu	37	1	156675204	156675204	+	Missense_Mutation	SNP	C	C	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr1:156675204C>T	ENST00000368222.3	-	1	189	c.35G>A	c.(34-36)cGa>cAa	p.R12Q	CRABP2_ENST00000368221.1_Missense_Mutation_p.R12Q	NM_001199723.1|NM_001878.3	NP_001186652.1|NP_001869.1	P29373	RABP2_HUMAN	cellular retinoic acid binding protein 2	12					epidermis development (GO:0008544)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215)	p.R12Q(1)		endometrium(2)|lung(3)|upper_aerodigestive_tract(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)				Alitretinoin(DB00523)|Tretinoin(DB00755)	GTTTTCCGATCGGATGATTTT	0.577																																						uc001fpr.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(34-36)CGA>CAA		cellular retinoic acid binding protein 2	Alitretinoin(DB00523)						128.0	122.0	124.0					1																	156675204		2203	4300	6503	SO:0001583	missense	1382				epidermis development|regulation of transcription, DNA-dependent|signal transduction	cytoplasm|nucleus	retinal binding|retinol binding|transporter activity	g.chr1:156675204C>T	BC001109	CCDS1152.1	1q21.3	2013-03-01	2001-11-28		ENSG00000143320	ENSG00000143320		"""Fatty acid binding protein family"""	2339	protein-coding gene	gene with protein product		180231	"""cellular retinoic acid-binding protein 2"""			1654334	Standard	NM_001878		Approved	CRABP-II	uc001fpr.3	P29373	OTTHUMG00000041300	ENST00000368222.3:c.35G>A	1.37:g.156675204C>T	ENSP00000357205:p.Arg12Gln						p.R12Q	NM_001878	NP_001869	P29373	RABP2_HUMAN			1	172	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		12					B2R4Z8|D3DVC5|F1T098|Q6ICN6	Missense_Mutation	SNP	ENST00000368222.3	37	c.35G>A	CCDS1152.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.185367	0.57909	.	.	ENSG00000143320	ENST00000368222;ENST00000368221;ENST00000368220	T;T;T	0.07800	3.16;3.16;3.16	4.54	1.67	0.24075	Calycin-like (1);Cytosolic fatty-acid binding (2);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.370576	0.28883	N	0.013825	T	0.01661	0.0053	N	0.22421	0.69	0.27507	N	0.951811	B	0.02656	0.0	B	0.06405	0.002	T	0.44421	-0.9329	10	0.56958	D	0.05	.	6.4101	0.21686	0.0:0.5976:0.0:0.4024	.	12	P29373	RABP2_HUMAN	Q	12	ENSP00000357205:R12Q;ENSP00000357204:R12Q;ENSP00000357203:R12Q	ENSP00000357203:R12Q	R	-	2	0	CRABP2	154941828	0.986000	0.35501	0.909000	0.35828	0.998000	0.95712	2.592000	0.46171	0.183000	0.20059	0.591000	0.81541	CGA		PASS	0.577	CRABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098966.1	NM_001878		34	86	34	86	---	---	---	---
PYHIN1	149628	broad.mit.edu	37	1	158943530	158943530	+	Missense_Mutation	SNP	A	A	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr1:158943530A>T	ENST00000368140.1	+	8	1698	c.1453A>T	c.(1453-1455)Acc>Tcc	p.T485S	PYHIN1_ENST00000392252.3_Intron|PYHIN1_ENST00000368138.3_Missense_Mutation_p.T476S|PYHIN1_ENST00000392254.2_Intron	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	485					cell cycle (GO:0007049)	nucleus (GO:0005634)		p.T485S(1)		breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					TGACACTTCCACCAACCGCCA	0.458																																						uc001ftb.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(1453-1455)ACC>TCC		pyrin and HIN domain family, member 1 alpha 1							144.0	130.0	135.0					1																	158943530		2203	4300	6503	SO:0001583	missense	149628				cell cycle	nuclear speck		g.chr1:158943530A>T	AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.1453A>T	1.37:g.158943530A>T	ENSP00000357122:p.Thr485Ser					PYHIN1_uc001ftc.2_Missense_Mutation_p.T476S|PYHIN1_uc001ftd.2_Intron|PYHIN1_uc001fte.2_Intron	p.T485S	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN			8	1698	+	all_hematologic(112;0.0378)		485					Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Missense_Mutation	SNP	ENST00000368140.1	37	c.1453A>T	CCDS1178.1	.	.	.	.	.	.	.	.	.	.	A	9.343	1.063444	0.20067	.	.	ENSG00000163564	ENST00000368140;ENST00000368138	T;T	0.05513	3.44;3.43	1.6	0.322	0.15888	.	.	.	.	.	T	0.01061	0.0035	L	0.27053	0.805	0.09310	N	1	P;P	0.40578	0.722;0.601	B;B	0.25405	0.06;0.027	T	0.47886	-0.9082	9	0.87932	D	0	.	4.4111	0.11434	0.6487:0.3513:0.0:0.0	.	476;485	Q6K0P9-2;Q6K0P9	.;IFIX_HUMAN	S	485;476	ENSP00000357122:T485S;ENSP00000357120:T476S	ENSP00000357120:T476S	T	+	1	0	PYHIN1	157210154	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.242000	0.18087	0.065000	0.16485	0.456000	0.33151	ACC		PASS	0.458	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501		35	79	35	79	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176760601	176760601	+	Missense_Mutation	SNP	A	A	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr1:176760601A>T	ENST00000367662.3	+	19	6167	c.5003A>T	c.(5002-5004)gAa>gTa	p.E1668V		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1668	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E1668V(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TACAAATGTGAACAAGGATAT	0.388																																						uc001gkz.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(5002-5004)GAA>GTA		pappalysin 2 isoform 1							86.0	84.0	84.0					1																	176760601		1878	4110	5988	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176760601A>T	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.5003A>T	1.37:g.176760601A>T	ENSP00000356634:p.Glu1668Val					PAPPA2_uc009www.2_RNA	p.E1668V	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			19	6167	+			1668			Sushi 5.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.5003A>T	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	A	6.493	0.459072	0.12342	.	.	ENSG00000116183	ENST00000367662	T	0.01767	4.65	5.1	2.78	0.32641	.	0.300594	0.34411	N	0.003989	T	0.01870	0.0059	L	0.53249	1.67	0.33381	D	0.574855	P	0.36789	0.57	B	0.28709	0.093	T	0.42310	-0.9459	10	0.46703	T	0.11	-5.3224	6.7409	0.23435	0.8026:0.0:0.1974:0.0	.	1668	Q9BXP8	PAPP2_HUMAN	V	1668	ENSP00000356634:E1668V	ENSP00000356634:E1668V	E	+	2	0	PAPPA2	175027224	1.000000	0.71417	0.370000	0.25965	0.005000	0.04900	2.892000	0.48625	0.890000	0.36211	0.533000	0.62120	GAA		PASS	0.388	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			17	60	17	60	---	---	---	---
ZNF648	127665	broad.mit.edu	37	1	182025847	182025847	+	Silent	SNP	G	G	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr1:182025847G>A	ENST00000339948.3	-	2	1506	c.1299C>T	c.(1297-1299)tcC>tcT	p.S433S		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	433					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.S433S(1)		breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						CGGACAGATTGGAGGACTTGG	0.692																																					NSCLC(71;908 1374 5429 20458 35642)	uc001goz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1297-1299)TCC>TCT		zinc finger protein 648							33.0	34.0	33.0					1																	182025847		2200	4296	6496	SO:0001819	synonymous_variant	127665				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:182025847G>A	AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"""Zinc fingers, C2H2-type"""	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.1299C>T	1.37:g.182025847G>A							p.S433S	NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN			2	1507	-			433			C2H2-type 6.		B2RP16	Silent	SNP	ENST00000339948.3	37	c.1299C>T	CCDS30952.1																																																																																				PASS	0.692	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090794.1	XM_060597		3	4	3	4	---	---	---	---
PRG4	10216	broad.mit.edu	37	1	186278006	186278006	+	Missense_Mutation	SNP	C	C	G			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr1:186278006C>G	ENST00000445192.2	+	7	3200	c.3155C>G	c.(3154-3156)cCc>cGc	p.P1052R	RNU6-1240P_ENST00000365155.1_RNA|PRG4_ENST00000367484.3_Missense_Mutation_p.P581R|PRG4_ENST00000367485.4_Missense_Mutation_p.P959R|PRG4_ENST00000367483.4_Missense_Mutation_p.P1011R|PRG4_ENST00000367486.3_Missense_Mutation_p.P1009R	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	1052					cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.P1052R(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACACCAACTCCCCGCAAGATG	0.458																																						uc001gru.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(3154-3156)CCC>CGC		proteoglycan 4 isoform A							170.0	179.0	176.0					1																	186278006		2203	4300	6503	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186278006C>G	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.3155C>G	1.37:g.186278006C>G	ENSP00000399679:p.Pro1052Arg					PRG4_uc001grt.3_Missense_Mutation_p.P1011R|PRG4_uc009wyl.2_Missense_Mutation_p.P959R|PRG4_uc009wym.2_Missense_Mutation_p.P918R|PRG4_uc010poo.1_RNA	p.P1052R	NM_005807	NP_005798	Q92954	PRG4_HUMAN			7	3206	+			1052					Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.3155C>G	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	C	8.085	0.773252	0.16051	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T	0.05319	3.48;3.57;3.57;3.46;3.59	3.7	2.78	0.32641	.	0.000000	0.42548	U	0.000694	T	0.13286	0.0322	L	0.47190	1.495	0.22156	N	0.999328	D;D;D;D	0.62365	0.991;0.991;0.985;0.991	P;P;P;P	0.61070	0.883;0.883;0.767;0.883	T	0.02232	-1.1191	10	0.72032	D	0.01	-1.4723	8.4311	0.32757	0.0:0.8877:0.0:0.1123	.	918;959;1052;1011	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	R	1009;581;1011;959;1052	ENSP00000356456:P1009R;ENSP00000356454:P581R;ENSP00000356453:P1011R;ENSP00000356455:P959R;ENSP00000399679:P1052R	ENSP00000356453:P1011R	P	+	2	0	PRG4	184544629	0.000000	0.05858	0.051000	0.19133	0.178000	0.23041	0.441000	0.21611	0.926000	0.37118	0.579000	0.79373	CCC		PASS	0.458	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		5	107	5	107	---	---	---	---
CRB1	23418	broad.mit.edu	37	1	197403847	197403847	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr1:197403847G>T	ENST00000367400.3	+	9	2989	c.2854G>T	c.(2854-2856)Gct>Tct	p.A952S	CRB1_ENST00000538660.1_Intron|CRB1_ENST00000535699.1_Missense_Mutation_p.A928S|CRB1_ENST00000544212.1_Missense_Mutation_p.A433S|CRB1_ENST00000367397.1_Missense_Mutation_p.A333S|CRB1_ENST00000367399.2_Missense_Mutation_p.A840S	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	952	EGF-like 14. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A952S(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TATTGCAAATGCTGTTTTTAA	0.308																																						uc001gtz.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|large_intestine(1)	9						c.(2854-2856)GCT>TCT		crumbs homolog 1 precursor							63.0	68.0	66.0					1																	197403847		2201	4298	6499	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197403847G>T		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.2854G>T	1.37:g.197403847G>T	ENSP00000356370:p.Ala952Ser					CRB1_uc010poz.1_Missense_Mutation_p.A928S|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.A840S|CRB1_uc010ppb.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.A433S|CRB1_uc001gub.1_Missense_Mutation_p.A601S	p.A952S	NM_201253	NP_957705	P82279	CRUM1_HUMAN			9	2989	+			952			Extracellular (Potential).|EGF-like 14.|Laminin G-like 3.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.2854G>T	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.576751	0.28092	.	.	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	D;D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03;-2.03	5.34	4.43	0.53597	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.89427	0.6712	M	0.85542	2.76	0.41583	D	0.988752	D;D;D;P	0.59767	0.986;0.961;0.983;0.955	P;P;P;B	0.53224	0.721;0.616;0.558;0.433	D	0.88254	0.2918	9	0.20519	T	0.43	.	14.0245	0.64577	0.073:0.0:0.927:0.0	.	928;840;601;952	F5H0L2;P82279-3;P82279-4;P82279	.;.;.;CRUM1_HUMAN	S	928;952;840;433;333;601	ENSP00000438786:A928S;ENSP00000356370:A952S;ENSP00000356369:A840S;ENSP00000444556:A433S;ENSP00000356367:A333S	ENSP00000356367:A333S	A	+	1	0	CRB1	195670470	1.000000	0.71417	0.998000	0.56505	0.009000	0.06853	5.767000	0.68850	1.239000	0.43787	-0.140000	0.14226	GCT		PASS	0.308	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		22	54	22	54	---	---	---	---
IGFN1	91156	broad.mit.edu	37	1	201196154	201196154	+	Missense_Mutation	SNP	A	A	G			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr1:201196154A>G	ENST00000335211.4	+	23	11061	c.10931A>G	c.(10930-10932)cAc>cGc	p.H3644R	IGFN1_ENST00000295591.8_3'UTR	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	1187						nucleus (GO:0005634)|Z disc (GO:0030018)		p.H3644R(1)|p.H804R(1)		autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCCCGGCCCCACGTCACCTGG	0.677																																						uc001gwc.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)	3						c.(2410-2412)CAC>CGC		RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1;							61.0	52.0	55.0					1																	201196154		2203	4300	6503	SO:0001583	missense	91156							g.chr1:201196154A>G	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.10931A>G	1.37:g.201196154A>G	ENSP00000334714:p.His3644Arg					IGFN1_uc001gwb.2_RNA	p.H804R	NM_178275	NP_840059					12	3183	+								F8WAI1|Q9NT72	Missense_Mutation	SNP	ENST00000335211.4	37	c.2411A>G	CCDS53455.1	.	.	.	.	.	.	.	.	.	.	A	9.163	1.019210	0.19355	.	.	ENSG00000163395	ENST00000335211	T	0.65916	-0.18	5.06	-7.89	0.01174	.	1.186530	0.05948	N	0.638229	T	0.44891	0.1315	N	0.10874	0.06	0.09310	N	1	B	0.17465	0.022	B	0.25405	0.06	T	0.42899	-0.9424	10	0.52906	T	0.07	.	17.7763	0.88510	0.2542:0.0:0.7458:0.0	.	3644	F8WAI1	.	R	3644	ENSP00000334714:H3644R	ENSP00000334714:H3644R	H	+	2	0	IGFN1	199462777	0.000000	0.05858	0.000000	0.03702	0.896000	0.52359	-0.367000	0.07553	-2.004000	0.00961	-0.441000	0.05720	CAC		PASS	0.677	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275		26	64	26	64	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216420069	216420069	+	Missense_Mutation	SNP	C	C	G			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr1:216420069C>G	ENST00000307340.3	-	13	3053	c.2667G>C	c.(2665-2667)ttG>ttC	p.L889F	USH2A_ENST00000366942.3_Missense_Mutation_p.L889F|USH2A_ENST00000366943.2_Missense_Mutation_p.L889F	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	889	Laminin EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.L889F(1)|p.L889L(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGTCAATGGTCAAATTGTACC	0.468										HNSCC(13;0.011)																												uc001hku.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(2665-2667)TTG>TTC		usherin isoform B							225.0	206.0	213.0					1																	216420069		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216420069C>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.2667G>C	1.37:g.216420069C>G	ENSP00000305941:p.Leu889Phe	HNSCC(13;0.011)				USH2A_uc001hkv.2_Missense_Mutation_p.L889F	p.L889F	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	13	3054	-			889			Laminin EGF-like 7.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.2667G>C	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.594496	0.66219	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.56103	0.48;0.48;0.48	6.03	5.09	0.68999	EGF-like, laminin (4);	0.233598	0.20749	N	0.086389	T	0.67850	0.2937	L	0.50333	1.59	0.40009	D	0.975269	D;D	0.89917	0.984;1.0	P;D	0.91635	0.835;0.999	T	0.69022	-0.5255	10	0.66056	D	0.02	.	16.2747	0.82638	0.0:0.7054:0.2946:0.0	.	889;889	O75445-2;O75445	.;USH2A_HUMAN	F	889	ENSP00000305941:L889F;ENSP00000355910:L889F;ENSP00000355909:L889F	ENSP00000305941:L889F	L	-	3	2	USH2A	214486692	0.953000	0.32496	0.961000	0.40146	0.932000	0.56968	0.167000	0.16602	2.861000	0.98227	0.655000	0.94253	TTG		PASS	0.468	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		97	142	97	142	---	---	---	---
SNAP47	116841	broad.mit.edu	37	1	227935399	227935399	+	Missense_Mutation	SNP	A	A	G			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr1:227935399A>G	ENST00000366759.4	+	2	511	c.97A>G	c.(97-99)Aag>Gag	p.K33E	SNAP47_ENST00000366760.1_Intron|SNAP47_ENST00000315781.5_Missense_Mutation_p.K33E|SNAP47-AS1_ENST00000413347.2_RNA	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	33					long-term synaptic potentiation (GO:0060291)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)		p.K33E(1)		endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TCAGAGGCAGAAGAGGCCTGG	0.607																																						uc001hrf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(97-99)AAG>GAG		synaptosomal-associated protein, 47kDa							66.0	57.0	60.0					1																	227935399		2203	4300	6503	SO:0001583	missense	116841					endomembrane system|membrane|perinuclear region of cytoplasm		g.chr1:227935399A>G	AY090635	CCDS1562.1	1q42.13	2013-10-11	2008-10-27	2008-10-27	ENSG00000143740	ENSG00000143740			30669	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 142"""	C1orf142		16621800	Standard	NM_053052		Approved	SVAP1, SNAP-47	uc001hrf.2	Q5SQN1	OTTHUMG00000037697	ENST00000366759.4:c.97A>G	1.37:g.227935399A>G	ENSP00000355721:p.Lys33Glu					SNAP47_uc001hqz.2_5'UTR|SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.2_Missense_Mutation_p.K33E|SNAP47_uc001hre.2_Intron|SNAP47_uc001hrg.1_5'UTR	p.K33E	NM_053052	NP_444280	Q5SQN1	SNP47_HUMAN			2	511	+			33					B6EDE0|Q5HYB5|Q5TBZ3|Q8N558|Q8TB31|Q8TCW8|Q8WV46|Q96CQ3|Q96FE1|Q96I66|Q96NU3|Q9BT10|Q9BVB2	Missense_Mutation	SNP	ENST00000366759.4	37	c.97A>G	CCDS1562.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.84|11.84	1.757533|1.757533	0.31137|0.31137	.|.	.|.	ENSG00000143740|ENSG00000143740	ENST00000426344|ENST00000366759;ENST00000315781	.|T;T	.|0.22743	.|1.94;1.94	3.78|3.78	1.33|1.33	0.21861|0.21861	.|.	.|3.254620	.|0.00939	.|N	.|0.002800	T|T	0.11750|0.11750	0.0286|0.0286	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B	.|0.22604	.|0.044;0.072	.|B;B	.|0.12837	.|0.003;0.008	T|T	0.23297|0.23297	-1.0192|-1.0192	5|10	.|0.59425	.|D	.|0.04	.|.	3.248|3.248	0.06803|0.06803	0.6814:0.0:0.1158:0.2028|0.6814:0.0:0.1158:0.2028	.|.	.|33;33	.|Q5SQN1;Q5SQN1-2	.|SNP47_HUMAN;.	G|E	24|33	.|ENSP00000355721:K33E;ENSP00000314157:K33E	.|ENSP00000314157:K33E	E|K	+|+	2|1	0|0	SNAP47|SNAP47	226002022|226002022	0.014000|0.014000	0.17966|0.17966	0.108000|0.108000	0.21378|0.21378	0.686000|0.686000	0.39977|0.39977	0.260000|0.260000	0.18424|0.18424	0.140000|0.140000	0.18849|0.18849	0.482000|0.482000	0.46254|0.46254	GAA|AAG		PASS	0.607	SNAP47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091961.1	NM_053052		24	47	24	47	---	---	---	---
AC113607.3	0	broad.mit.edu	37	2	905474	905474	+	RNA	SNP	G	G	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr2:905474G>A	ENST00000427019.1	-	0	1178																		p.Q158*(1)									CACTGGGTCTGGTGTTTCATT	0.612																																						uc010ewg.2																			1	Substitution - Nonsense(1)		lung(1)										Homo sapiens cDNA FLJ46162 fis, clone TESTI4002520.							67.0	63.0	64.0					2																	905474		1862	4056	5918			0							g.chr2:905474G>A																													2.37:g.905474G>A						uc010ewh.1_Nonsense_Mutation_p.Q158*								1		-									RNA	SNP	ENST00000427019.1	37	c.109C>T																																																																																					PASS	0.612	AC113607.3-001	KNOWN	basic	antisense	antisense	OTTHUMT00000322408.1			72	141	72	141	---	---	---	---
AC113607.3	0	broad.mit.edu	37	2	905558	905558	+	RNA	SNP	G	G	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr2:905558G>A	ENST00000427019.1	-	0	1178																		p.Q130*(1)									CACTGGGTCTGGTGTTTCATT	0.597																																						uc010ewg.2																			1	Substitution - Nonsense(1)		lung(1)										Homo sapiens cDNA FLJ46162 fis, clone TESTI4002520.							196.0	234.0	222.0					2																	905558		1405	3185	4590			0							g.chr2:905558G>A																													2.37:g.905558G>A						uc010ewh.1_Nonsense_Mutation_p.Q130*								1		-									RNA	SNP	ENST00000427019.1	37	c.25C>T																																																																																					PASS	0.597	AC113607.3-001	KNOWN	basic	antisense	antisense	OTTHUMT00000322408.1			6	209	6	209	---	---	---	---
KCNF1	3754	broad.mit.edu	37	2	11053295	11053295	+	Missense_Mutation	SNP	T	T	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr2:11053295T>A	ENST00000295082.1	+	1	1233	c.743T>A	c.(742-744)cTg>cAg	p.L248Q		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	248					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)	p.L248Q(1)		NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CCCAACAAGCTGCACTTCGCG	0.617																																						uc002rax.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(742-744)CTG>CAG		potassium voltage-gated channel, subfamily F,							96.0	80.0	85.0					2																	11053295		2203	4300	6503	SO:0001583	missense	3754					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr2:11053295T>A	AF033382	CCDS1676.1	2p25	2011-07-05			ENSG00000162975	ENSG00000162975		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6246	protein-coding gene	gene with protein product		603787		KCNF		9434767, 16382104	Standard	NM_002236		Approved	Kv5.1, kH1, IK8	uc002rax.3	Q9H3M0	OTTHUMG00000119054	ENST00000295082.1:c.743T>A	2.37:g.11053295T>A	ENSP00000295082:p.Leu248Gln						p.L248Q	NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)	1	1233	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		248			Cytoplasmic (Potential).		O43527|Q585L3	Missense_Mutation	SNP	ENST00000295082.1	37	c.743T>A	CCDS1676.1	.	.	.	.	.	.	.	.	.	.	t	16.10	3.027615	0.54790	.	.	ENSG00000162975	ENST00000295082	D	0.98531	-4.98	5.2	5.2	0.72013	Ion transport (1);	0.317793	0.29558	N	0.011806	D	0.98308	0.9439	M	0.68317	2.08	0.44142	D	0.996933	D	0.55385	0.971	P	0.59546	0.859	D	0.98281	1.0508	10	0.34782	T	0.22	.	15.3884	0.74723	0.0:0.0:0.0:1.0	.	248	Q9H3M0	KCNF1_HUMAN	Q	248	ENSP00000295082:L248Q	ENSP00000295082:L248Q	L	+	2	0	KCNF1	10970746	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.216000	0.72212	2.085000	0.62840	0.529000	0.55759	CTG		PASS	0.617	KCNF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239265.1	NM_002236		24	59	24	59	---	---	---	---
APOB	338	broad.mit.edu	37	2	21252821	21252821	+	Silent	SNP	C	C	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr2:21252821C>T	ENST00000233242.1	-	11	1546	c.1419G>A	c.(1417-1419)caG>caA	p.Q473Q	APOB_ENST00000399256.4_Silent_p.Q473Q	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	473	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.Q473Q(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATCTTGAATCTGTTCCATCA	0.418																																						uc002red.2																			1	Substitution - coding silent(1)		lung(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(1417-1419)CAG>CAA		apolipoprotein B precursor	Atorvastatin(DB01076)						181.0	181.0	181.0					2																	21252821		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21252821C>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.1419G>A	2.37:g.21252821C>T							p.Q473Q	NM_000384	NP_000375	P04114	APOB_HUMAN			11	1547	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		473			Vitellogenin.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.1419G>A	CCDS1703.1																																																																																				PASS	0.418	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			25	124	25	124	---	---	---	---
ATAD2B	54454	broad.mit.edu	37	2	24118806	24118806	+	Missense_Mutation	SNP	T	T	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr2:24118806T>A	ENST00000238789.5	-	2	594	c.251A>T	c.(250-252)cAc>cTc	p.H84L		NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	84						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)	p.H84L(1)		central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGAGATACGTGGCTATCACT	0.343																																						uc002rek.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(250-252)CAC>CTC		ATPase family, AAA domain containing 2B							104.0	94.0	97.0					2																	24118806		1921	4141	6062	SO:0001583	missense	54454						ATP binding|nucleoside-triphosphatase activity	g.chr2:24118806T>A	AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"""ATPases / AAA-type"""	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.251A>T	2.37:g.24118806T>A	ENSP00000238789:p.His84Leu					ATAD2B_uc010yki.1_RNA|ATAD2B_uc010exx.1_Missense_Mutation_p.H84L	p.H84L	NM_017552	NP_060022	Q9ULI0	ATD2B_HUMAN			2	545	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		84					B9ZVQ5|Q6ZNA6|Q8N9E7	Missense_Mutation	SNP	ENST00000238789.5	37	c.251A>T	CCDS46227.1	.	.	.	.	.	.	.	.	.	.	T	17.41	3.382875	0.61845	.	.	ENSG00000119778	ENST00000238789;ENST00000439915	D;T	0.91740	-2.9;0.9	5.19	5.19	0.71726	.	.	.	.	.	T	0.81254	0.4784	N	0.08118	0	0.43003	D	0.994526	B;P	0.39480	0.418;0.675	B;B	0.30855	0.121;0.074	T	0.82307	-0.0522	9	0.25751	T	0.34	.	15.3568	0.74434	0.0:0.0:0.0:1.0	.	84;84	C9JG15;Q9ULI0	.;ATD2B_HUMAN	L	84	ENSP00000238789:H84L;ENSP00000403177:H84L	ENSP00000238789:H84L	H	-	2	0	ATAD2B	23972310	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	5.389000	0.66255	2.094000	0.63399	0.533000	0.62120	CAC		PASS	0.343	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	NM_017552		29	39	29	39	---	---	---	---
ZNF513	130557	broad.mit.edu	37	2	27600640	27600640	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr2:27600640G>T	ENST00000323703.6	-	4	1596	c.1398C>A	c.(1396-1398)caC>caA	p.H466Q	ZNF513_ENST00000491924.1_5'UTR|ZNF513_ENST00000407879.1_Missense_Mutation_p.H404Q	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	466					regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)	p.H466Q(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTCGCCTGTGTGCCGCAGCA	0.587																																						uc002rkk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1396-1398)CAC>CAA		zinc finger protein 513							157.0	153.0	155.0					2																	27600640		2203	4300	6503	SO:0001583	missense	130557				regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr2:27600640G>T	AL833946	CCDS1751.1, CCDS56114.1	2p23.3	2014-01-28			ENSG00000163795	ENSG00000163795		"""Zinc fingers, C2H2-type"""	26498	protein-coding gene	gene with protein product		613598				12477932	Standard	NM_001201459		Approved	FLJ32203, RP58	uc002rkk.3	Q8N8E2	OTTHUMG00000097783	ENST00000323703.6:c.1398C>A	2.37:g.27600640G>T	ENSP00000318373:p.His466Gln					ZNF513_uc002rkj.2_Missense_Mutation_p.H404Q	p.H466Q	NM_144631	NP_653232	Q8N8E2	ZN513_HUMAN			4	1598	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		466			C2H2-type 7.		A8K3S5|B7WP71|Q3ZCU1|Q68CJ1|Q86UZ3|Q8NDL8|Q96ML3	Missense_Mutation	SNP	ENST00000323703.6	37	c.1398C>A	CCDS1751.1	.	.	.	.	.	.	.	.	.	.	G	9.475	1.096709	0.20552	.	.	ENSG00000163795	ENST00000323703;ENST00000407879	T;T	0.66995	-0.24;-0.24	4.77	0.95	0.19572	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47455	D	0.000226	T	0.81049	0.4742	M	0.91612	3.225	0.40937	D	0.984435	D	0.89917	1.0	D	0.91635	0.999	T	0.77879	-0.2423	10	0.87932	D	0	-9.6619	5.4368	0.16486	0.2345:0.0:0.6254:0.1401	.	466	Q8N8E2	ZN513_HUMAN	Q	466;404	ENSP00000318373:H466Q;ENSP00000384874:H404Q	ENSP00000318373:H466Q	H	-	3	2	ZNF513	27454144	1.000000	0.71417	0.996000	0.52242	0.074000	0.17049	2.841000	0.48223	0.001000	0.14605	-0.895000	0.02911	CAC		PASS	0.587	ZNF513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215026.2	NM_144631		68	194	68	194	---	---	---	---
PLB1	151056	broad.mit.edu	37	2	28766132	28766132	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr2:28766132G>T	ENST00000327757.5	+	14	977	c.933G>T	c.(931-933)agG>agT	p.R311S	PLB1_ENST00000422425.2_Missense_Mutation_p.R322S	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	311	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)	p.R322S(1)|p.R311S(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TCTGGAATAGGATGGTGAGTA	0.627																																						uc002rmb.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(2)|skin(2)|breast(1)	9						c.(931-933)AGG>AGT		phospholipase B1 precursor							35.0	35.0	35.0					2																	28766132		2203	4300	6503	SO:0001583	missense	151056				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	g.chr2:28766132G>T		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.933G>T	2.37:g.28766132G>T	ENSP00000330442:p.Arg311Ser					PLB1_uc010ezj.1_Missense_Mutation_p.R322S	p.R311S	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN			14	933	+	Acute lymphoblastic leukemia(172;0.155)		311			4 X 308-326 AA approximate repeats.|Extracellular (Potential).|1.		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	ENST00000327757.5	37	c.933G>T	CCDS33168.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.772|8.772	0.926154|0.926154	0.18056|0.18056	.|.	.|.	ENSG00000163803|ENSG00000163803	ENST00000404858|ENST00000327757;ENST00000422425	.|T;T	.|0.10763	.|2.84;2.85	4.87|4.87	2.0|2.0	0.26442|0.26442	.|.	.|0.673640	.|0.14486	.|N	.|0.316663	T|T	0.02380|0.02380	0.0073|0.0073	N|N	0.01109|0.01109	-1.01|-1.01	0.80722|0.80722	D|D	1|1	.|B;B	.|0.09022	.|0.002;0.001	.|B;B	.|0.08055	.|0.003;0.002	T|T	0.38112|0.38112	-0.9676|-0.9676	5|10	.|0.06365	.|T	.|0.9	-3.423|-3.423	3.6764|3.6764	0.08294|0.08294	0.1525:0.5629:0.1874:0.0971|0.1525:0.5629:0.1874:0.0971	.|.	.|322;311	.|Q6P1J6-3;Q6P1J6	.|.;PLB1_HUMAN	V|S	321|311;322	.|ENSP00000330442:R311S;ENSP00000416440:R322S	.|ENSP00000330442:R311S	G|R	+|+	2|3	0|2	PLB1|PLB1	28619636|28619636	0.953000|0.953000	0.32496|0.32496	0.961000|0.961000	0.40146|0.40146	0.813000|0.813000	0.45954|0.45954	0.686000|0.686000	0.25392|0.25392	0.284000|0.284000	0.22305|0.22305	0.561000|0.561000	0.74099|0.74099	GGA|AGG		PASS	0.627	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			6	16	6	16	---	---	---	---
BIRC6	57448	broad.mit.edu	37	2	32703790	32703790	+	Missense_Mutation	SNP	C	C	G			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr2:32703790C>G	ENST00000421745.2	+	36	7290	c.7156C>G	c.(7156-7158)Ctt>Gtt	p.L2386V		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2386					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.L2386V(1)|p.L2358V(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ACTGCTGTTACTTTTGGTTGG	0.433																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(7156-7158)CTT>GTT		baculoviral IAP repeat-containing 6							167.0	151.0	157.0					2																	32703790		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32703790C>G	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.7156C>G	2.37:g.32703790C>G	ENSP00000393596:p.Leu2386Val						p.L2386V	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			36	7290	+	Acute lymphoblastic leukemia(172;0.155)		2386					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.7156C>G	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	21.4	4.149504	0.78001	.	.	ENSG00000115760	ENST00000421745	T	0.79454	-1.27	5.34	5.34	0.76211	.	0.000000	0.64402	D	0.000005	D	0.82747	0.5104	L	0.29908	0.895	0.58432	D	0.999999	D	0.63880	0.993	D	0.70016	0.967	D	0.84812	0.0791	10	0.72032	D	0.01	.	19.0366	0.92982	0.0:1.0:0.0:0.0	.	2386	Q9NR09	BIRC6_HUMAN	V	2386	ENSP00000393596:L2386V	ENSP00000393596:L2386V	L	+	1	0	BIRC6	32557294	1.000000	0.71417	0.948000	0.38648	0.979000	0.70002	4.840000	0.62817	2.487000	0.83934	0.655000	0.94253	CTT		PASS	0.433	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		29	132	29	132	---	---	---	---
RPIA	22934	broad.mit.edu	37	2	88991249	88991249	+	Nonsense_Mutation	SNP	C	C	G			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr2:88991249C>G	ENST00000283646.4	+	1	88	c.33C>G	c.(31-33)taC>taG	p.Y11*		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	11					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|ribose phosphate metabolic process (GO:0019693)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	monosaccharide binding (GO:0048029)|ribose-5-phosphate isomerase activity (GO:0004751)	p.Y11*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				GCACCCTCTACGGGCGGGTCT	0.766																																						uc002ste.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(31-33)TAC>TAG		ribose 5-phosphate isomerase A							9.0	12.0	11.0					2																	88991249		1516	3549	5065	SO:0001587	stop_gained	22934				pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity	g.chr2:88991249C>G	L35035	CCDS2004.2	2p11.2	2008-07-31	2008-07-31		ENSG00000153574	ENSG00000153574	5.3.1.6		10297	protein-coding gene	gene with protein product	"""ribose 5-phosphate epimerase"""	180430				7758956	Standard	NM_144563		Approved		uc002ste.3	P49247	OTTHUMG00000130333	ENST00000283646.4:c.33C>G	2.37:g.88991249C>G	ENSP00000283646:p.Tyr11*						p.Y11*	NM_144563	NP_653164	P49247	RPIA_HUMAN			1	74	+		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)	11					Q541P9|Q96BJ6	Nonsense_Mutation	SNP	ENST00000283646.4	37	c.33C>G	CCDS2004.2	.	.	.	.	.	.	.	.	.	.	C	38	6.803252	0.97849	.	.	ENSG00000153574	ENST00000283646	.	.	.	4.87	4.87	0.63330	.	0.169560	0.26331	U	0.024984	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.7267	13.6852	0.62511	0.0:1.0:0.0:0.0	.	.	.	.	X	11	.	ENSP00000283646:Y11X	Y	+	3	2	RPIA	88772364	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.315000	0.51951	2.694000	0.91930	0.484000	0.47621	TAC		PASS	0.766	RPIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252683.2			17	33	17	33	---	---	---	---
AMER3	205147	broad.mit.edu	37	2	131520797	131520797	+	Silent	SNP	C	C	T	rs200882863		TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr2:131520797C>T	ENST00000423981.1	+	2	1262	c.1152C>T	c.(1150-1152)gaC>gaT	p.D384D	AMER3_ENST00000321420.4_Silent_p.D384D	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	384					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.D384D(2)									CCACAAGTGACGAGGGCTACT	0.627													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17372	0.0		0.0	False		,,,				2504	0.0					uc002trw.2																			2	Substitution - coding silent(2)		lung(2)	pancreas(2)|ovary(1)	3						c.(1150-1152)GAC>GAT		hypothetical protein LOC205147							77.0	60.0	66.0					2																	131520797		2203	4300	6503	SO:0001819	synonymous_variant	205147							g.chr2:131520797C>T	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.1152C>T	2.37:g.131520797C>T						FAM123C_uc010fmv.2_Silent_p.D384D|FAM123C_uc010fms.1_Silent_p.D384D|FAM123C_uc010fmt.1_Silent_p.D384D|FAM123C_uc010fmu.1_Silent_p.D384D	p.D384D	NM_152698	NP_689911	Q8N944	F123C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	2	1342	+	Colorectal(110;0.1)		384					B7ZLH6	Silent	SNP	ENST00000423981.1	37	c.1152C>T	CCDS2164.1																																																																																				PASS	0.627	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		33	47	33	47	---	---	---	---
NCKAP5	344148	broad.mit.edu	37	2	133531461	133531461	+	Missense_Mutation	SNP	C	C	G			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr2:133531461C>G	ENST00000409261.1	-	16	5429	c.5056G>C	c.(5056-5058)Gag>Cag	p.E1686Q	NCKAP5_ENST00000405974.3_Missense_Mutation_p.E367Q|NCKAP5_ENST00000409213.1_Missense_Mutation_p.E367Q|NCKAP5_ENST00000317721.6_Missense_Mutation_p.E1686Q|NCKAP5_ENST00000473859.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1686								p.E1686Q(1)|p.E206Q(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TCATTTGCCTCTTTTACCTGC	0.328																																						uc002ttp.2																			2	Substitution - Missense(2)		lung(2)		0						c.(5056-5058)GAG>CAG		Nck-associated protein 5 isoform 1							182.0	169.0	173.0					2																	133531461		1836	4089	5925	SO:0001583	missense	344148						protein binding	g.chr2:133531461C>G	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.5056G>C	2.37:g.133531461C>G	ENSP00000387128:p.Glu1686Gln					NCKAP5_uc002ttq.2_Missense_Mutation_p.E367Q	p.E1686Q	NM_207363	NP_997246	O14513	NCKP5_HUMAN			16	5430	-			1686					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.5056G>C	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	C	12.43	1.936564	0.34189	.	.	ENSG00000176771	ENST00000409261;ENST00000409213;ENST00000317721;ENST00000405974;ENST00000537661	T;T;T;T	0.47869	2.75;0.83;2.75;0.83	5.65	4.78	0.61160	.	0.289681	0.17761	U	0.162883	T	0.50222	0.1603	L	0.27053	0.805	0.20403	N	0.999909	D;B	0.60575	0.988;0.002	P;B	0.53689	0.732;0.008	T	0.48917	-0.8992	10	0.41790	T	0.15	.	18.0753	0.89425	0.0:0.8781:0.1219:0.0	.	367;1686	O14513-2;O14513	.;NCKP5_HUMAN	Q	1686;367;1686;367;367	ENSP00000387128:E1686Q;ENSP00000386952:E367Q;ENSP00000380603:E1686Q;ENSP00000385692:E367Q	ENSP00000380603:E1686Q	E	-	1	0	NCKAP5	133247931	0.922000	0.31269	0.096000	0.21009	0.185000	0.23345	0.800000	0.27042	0.950000	0.37743	-0.795000	0.03280	GAG		PASS	0.328	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		11	181	11	181	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141274521	141274521	+	Silent	SNP	A	A	G			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr2:141274521A>G	ENST00000389484.3	-	50	9057	c.8086T>C	c.(8086-8088)Ttg>Ctg	p.L2696L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2696	LDL-receptor class A 15. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.L2696L(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)		CAGGTATTCAAAATGCATCTT	0.333										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - coding silent(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(8086-8088)TTG>CTG		low density lipoprotein-related protein 1B							158.0	143.0	148.0					2																	141274521		2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141274521A>G	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.8086T>C	2.37:g.141274521A>G		TSP Lung(27;0.18)					p.L2696L	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)	50	9058	-		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)	2696			Extracellular (Potential).|LDL-receptor class A 15.		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.8086T>C	CCDS2182.1																																																																																				PASS	0.333	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		3	48	3	48	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141533667	141533667	+	Splice_Site	SNP	C	C	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr2:141533667C>A	ENST00000389484.3	-	33	6471	c.5500G>T	c.(5500-5502)Ggc>Tgc	p.G1834C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1834	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.G1834C(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)		TGTGATTTACCTTGCTGTGCT	0.383										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(5500-5502)GGC>TGC		low density lipoprotein-related protein 1B							131.0	123.0	126.0					2																	141533667		2203	4300	6503	SO:0001630	splice_region_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141533667C>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.5500+1G>T	2.37:g.141533667C>A		TSP Lung(27;0.18)					p.G1834C	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	33	6472	-		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)	1834			Extracellular (Potential).|EGF-like 4.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.5500G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	32	5.155186	0.94686	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95885	-3.84	5.39	5.39	0.77823	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.98429	0.9477	M	0.93420	3.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99211	1.0876	9	.	.	.	.	19.5084	0.95130	0.0:1.0:0.0:0.0	.	1834	Q9NZR2	LRP1B_HUMAN	C	1834;1772	ENSP00000374135:G1834C	.	G	-	1	0	LRP1B	141250137	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.650000	0.83521	2.702000	0.92279	0.591000	0.81541	GGC		PASS	0.383	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	Missense_Mutation	22	49	22	49	---	---	---	---
DCAF17	80067	broad.mit.edu	37	2	172305295	172305295	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr2:172305295G>T	ENST00000375255.3	+	4	753	c.426G>T	c.(424-426)gaG>gaT	p.E142D	DCAF17_ENST00000468592.1_3'UTR|DCAF17_ENST00000539783.1_Missense_Mutation_p.E142D	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17	142					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.E142D(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						AAATCCTTGAGAAAATATATC	0.318																																						uc002ugx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(424-426)GAG>GAT		DDB1 and CUL4 associated factor 17 isoform 1							74.0	73.0	73.0					2																	172305295		1808	4071	5879	SO:0001583	missense	80067					CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus		g.chr2:172305295G>T	AK023158	CCDS2243.2, CCDS54419.1	2q31.1	2014-01-28	2009-07-17	2009-07-17	ENSG00000115827	ENSG00000115827		"""DDB1 and CUL4 associated factors"""	25784	protein-coding gene	gene with protein product	"""Woodhouse-Sakati syndrome"""	612515	"""chromosome 2 open reading frame 37"""	C2orf37			Standard	NM_001164821		Approved	FLJ13096	uc002ugx.3	Q5H9S7	OTTHUMG00000132259	ENST00000375255.3:c.426G>T	2.37:g.172305295G>T	ENSP00000364404:p.Glu142Asp					DCAF17_uc010zdq.1_RNA|DCAF17_uc010fqf.1_Missense_Mutation_p.E142D|DCAF17_uc010zdr.1_RNA	p.E142D	NM_025000	NP_079276	Q5H9S7	DCA17_HUMAN			4	655	+			142					B2RTW5|Q53TN3|Q9H908	Missense_Mutation	SNP	ENST00000375255.3	37	c.426G>T	CCDS2243.2	.	.	.	.	.	.	.	.	.	.	G	15.96	2.987896	0.53934	.	.	ENSG00000115827	ENST00000375255;ENST00000539783	T;T	0.47528	0.85;0.84	4.83	2.02	0.26589	.	0.070653	0.56097	D	0.000028	T	0.40694	0.1127	L	0.60455	1.87	0.28040	N	0.933801	B;B	0.24576	0.106;0.061	B;B	0.31614	0.133;0.078	T	0.31138	-0.9954	10	0.33940	T	0.23	-5.3465	5.9358	0.19165	0.5307:0.0:0.4693:0.0	.	142;142	F5H7W1;Q5H9S7	.;DCA17_HUMAN	D	142	ENSP00000364404:E142D;ENSP00000442238:E142D	ENSP00000364404:E142D	E	+	3	2	DCAF17	172013541	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.132000	0.42083	0.452000	0.26830	0.460000	0.39030	GAG		PASS	0.318	DCAF17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255342.2	NM_025000		6	131	6	131	---	---	---	---
EVX2	344191	broad.mit.edu	37	2	176948394	176948394	+	Silent	SNP	G	G	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr2:176948394G>T	ENST00000308618.4	-	1	247	c.111C>A	c.(109-111)ctC>ctA	p.L37L		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	37					limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.L37L(1)		kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		CCAGGGCCTCGAGCACAGCAT	0.597																																						uc010zeu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(109-111)CTC>CTA		even-skipped homeobox 2							50.0	56.0	54.0					2																	176948394		2203	4300	6503	SO:0001819	synonymous_variant	344191					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176948394G>T		CCDS33333.1	2q31.1	2012-03-09	2007-02-15		ENSG00000174279	ENSG00000174279		"""Homeoboxes / ANTP class : HOXL subclass"""	3507	protein-coding gene	gene with protein product		142991	"""eve, even-skipped homeobox homolog 2 (Drosophila)"""			1675198	Standard	NM_001080458		Approved		uc010zeu.2	Q03828	OTTHUMG00000154173	ENST00000308618.4:c.111C>A	2.37:g.176948394G>T							p.L37L	NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)	1	297	-			37						Silent	SNP	ENST00000308618.4	37	c.111C>A	CCDS33333.1																																																																																				PASS	0.597	EVX2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359252.1			43	74	43	74	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179593626	179593626	+	Missense_Mutation	SNP	A	A	G			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr2:179593626A>G	ENST00000591111.1	-	63	18412	c.18188T>C	c.(18187-18189)tTa>tCa	p.L6063S	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L5136S|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.L6380S			Q8WZ42	TITIN_HUMAN	titin	12851	Ig-like 41.				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.L5136S(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)			ACCTTGTACTAAAAGGAAAGC	0.393																																						uc010zfg.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.(15406-15408)TTA>TCA		titin isoform N2-A							73.0	66.0	68.0					2																	179593626		1906	4134	6040	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179593626A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.18188T>C	2.37:g.179593626A>G	ENSP00000465570:p.Leu6063Ser					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.L1797S	p.L5136S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		62	15631	-			6063					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.15407T>C		.	.	.	.	.	.	.	.	.	.	A	7.181	0.589505	0.13812	.	.	ENSG00000155657	ENST00000342992	T	0.65732	-0.17	5.63	5.63	0.86233	Immunoglobulin I-set (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.42177	0.1191	N	0.01817	-0.705	0.80722	D	1	P	0.34864	0.473	B	0.38106	0.265	T	0.57087	-0.7871	9	0.87932	D	0	.	16.1485	0.81594	1.0:0.0:0.0:0.0	.	6063	Q8WZ42	TITIN_HUMAN	S	5136	ENSP00000343764:L5136S	ENSP00000343764:L5136S	L	-	2	0	TTN	179301871	1.000000	0.71417	0.989000	0.46669	0.823000	0.46562	4.521000	0.60532	2.281000	0.76405	0.533000	0.62120	TTA		PASS	0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		15	36	15	36	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179611814	179611814	+	Intron	SNP	G	G	A	rs397517814|rs376396183		TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr2:179611814G>A	ENST00000591111.1	-	46	10585				TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Nonsense_Mutation_p.R5105*|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGGAATATCGCTCTAGAGTC	0.493																																						uc002unb.2																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(15313-15315)CGA>TGA		titin isoform novex-3		T	,,stop/ARG,,	0,4406		0,0,2203	67.0	76.0	73.0		,,15313,,	1.6	0.8	2		73	1,8597	1.2+/-3.3	0,1,4298	no	intron,intron,stop-gained,intron,intron	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	,,,,	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	,,,,	,,5105/5605,,	179611814	1,13003	2203	4299	6502	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179611814G>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.10361-5166C>T	2.37:g.179611814G>A						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.R5105*	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	15537	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.15313C>T		.	.	.	.	.	.	.	.	.	.	g	54	22.905910	0.99951	0.0	1.16E-4	ENSG00000155657	ENST00000360870	.	.	.	5.54	1.64	0.23874	.	.	.	.	.	.	.	.	.	.	.	0.53688	D	0.999975	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	12.6931	0.56988	0.0:0.0:0.3736:0.6264	.	.	.	.	X	5105	.	ENSP00000354117:R5105X	R	-	1	2	TTN	179320059	0.013000	0.17824	0.776000	0.31678	0.087000	0.18053	-0.077000	0.11394	0.396000	0.25283	-1.006000	0.02489	CGA		PASS	0.493	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		37	88	37	88	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179635302	179635302	+	Missense_Mutation	SNP	C	C	G			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr2:179635302C>G	ENST00000591111.1	-	35	8441	c.8217G>C	c.(8215-8217)caG>caC	p.Q2739H	TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q2739H|TTN_ENST00000359218.5_Missense_Mutation_p.Q2693H|TTN_ENST00000460472.2_Missense_Mutation_p.Q2693H|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.Q2739H|TTN_ENST00000342175.6_Missense_Mutation_p.Q2693H|TTN_ENST00000589042.1_Missense_Mutation_p.Q2739H			Q8WZ42	TITIN_HUMAN	titin	13065					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.Q2693H(3)|p.Q2739H(3)		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)			TTTTGATCCACTGGACACCTT	0.413																																						uc010zfg.1																			6	Substitution - Missense(6)		lung(6)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(8215-8217)CAG>CAC		titin isoform N2-A							174.0	171.0	172.0					2																	179635302		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179635302C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.8217G>C	2.37:g.179635302C>G	ENSP00000465570:p.Gln2739His					TTN_uc010zfh.1_Missense_Mutation_p.Q2693H|TTN_uc010zfi.1_Missense_Mutation_p.Q2693H|TTN_uc010zfj.1_Missense_Mutation_p.Q2693H|TTN_uc002unb.2_Missense_Mutation_p.Q2739H	p.Q2739H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		35	8441	-			2739					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.8217G>C		.	.	.	.	.	.	.	.	.	.	C	11.82	1.752913	0.31046	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3	6.06	4.26	0.50523	Immunoglobulin I-set (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78502	0.4293	M	0.62723	1.935	0.29242	N	0.87259	D;D;D;D;D	0.89917	0.989;0.989;0.989;0.989;1.0	D;D;D;D;D	0.69479	0.911;0.911;0.911;0.911;0.964	T	0.74312	-0.3706	9	0.87932	D	0	.	13.3252	0.60454	0.0:0.8707:0.0:0.1293	.	2693;2693;2693;2739;2739	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	H	2739;2693;2693;2693;2693;2739	ENSP00000343764:Q2739H;ENSP00000434586:Q2693H;ENSP00000340554:Q2693H;ENSP00000352154:Q2693H;ENSP00000354117:Q2739H	ENSP00000340554:Q2693H	Q	-	3	2	TTN	179343547	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.946000	0.29069	0.871000	0.35750	0.655000	0.94253	CAG		PASS	0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		39	90	39	90	---	---	---	---
PDE1A	5136	broad.mit.edu	37	2	183066211	183066211	+	Silent	SNP	C	C	G			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr2:183066211C>G	ENST00000410103.1	-	11	1211	c.1128G>C	c.(1126-1128)ctG>ctC	p.L376L	PDE1A_ENST00000351439.5_Silent_p.L360L|PDE1A_ENST00000409365.1_Silent_p.L360L|PDE1A_ENST00000456212.1_Silent_p.L376L|PDE1A_ENST00000346717.4_Silent_p.L342L|PDE1A_ENST00000331935.6_Silent_p.L376L|PDE1A_ENST00000536095.1_Silent_p.L272L|PDE1A_ENST00000435564.1_Silent_p.L376L|PDE1A_ENST00000358139.2_Silent_p.L376L	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	376	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)	p.L376L(3)		endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	ACCGATAATGCAGCTTCCAGG	0.473																																						uc002uos.2																			3	Substitution - coding silent(3)		lung(2)|upper_aerodigestive_tract(1)	skin(2)|ovary(1)	3						c.(1126-1128)CTG>CTC		phosphodiesterase 1A isoform 2							144.0	145.0	144.0					2																	183066211		2203	4300	6503	SO:0001819	synonymous_variant	5136				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr2:183066211C>G		CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"""Phosphodiesterases"""	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.1128G>C	2.37:g.183066211C>G						PDE1A_uc010zfp.1_Silent_p.L272L|PDE1A_uc002uoq.1_Silent_p.L376L|PDE1A_uc010zfq.1_Silent_p.L376L|PDE1A_uc002uor.2_Silent_p.L360L|PDE1A_uc002uou.2_Silent_p.L342L	p.L376L	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.061)		11	1212	-			376			Catalytic (By similarity).		D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Silent	SNP	ENST00000410103.1	37	c.1128G>C	CCDS33344.1																																																																																				PASS	0.473	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334356.1			48	85	48	85	---	---	---	---
GLS	2744	broad.mit.edu	37	2	191792155	191792155	+	Missense_Mutation	SNP	A	A	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr2:191792155A>T	ENST00000320717.3	+	12	1630	c.1372A>T	c.(1372-1374)Agt>Tgt	p.S458C	GLS_ENST00000409428.1_5'Flank|GLS_ENST00000409215.1_5'Flank|GLS_ENST00000409626.1_Missense_Mutation_p.S29C|GLS_ENST00000338435.4_Missense_Mutation_p.S458C	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase	458					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate secretion (GO:0014047)|glutamine catabolic process (GO:0006543)|neurotransmitter secretion (GO:0007269)|protein homotetramerization (GO:0051289)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|small molecule metabolic process (GO:0044281)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)	p.S458C(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamine(DB00130)	AAATACATTGAGTTTGATGCA	0.428																																						uc002usf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1372-1374)AGT>TGT		glutaminase precursor	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						164.0	157.0	160.0					2																	191792155		2203	4300	6503	SO:0001583	missense	2744				cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity	g.chr2:191792155A>T	AB020645	CCDS2308.1, CCDS58744.1	2q32-q34	2013-01-10			ENSG00000115419	ENSG00000115419	3.5.1.2	"""Ankyrin repeat domain containing"""	4331	protein-coding gene	gene with protein product		138280				10048485	Standard	NM_014905		Approved	KIAA0838, GLS1	uc002usf.3	O94925	OTTHUMG00000132701	ENST00000320717.3:c.1372A>T	2.37:g.191792155A>T	ENSP00000317379:p.Ser458Cys					GLS_uc002use.2_Missense_Mutation_p.S458C|GLS_uc002usg.1_Missense_Mutation_p.S119C|GLS_uc002ush.2_Missense_Mutation_p.S119C|GLS_uc010zgi.1_Missense_Mutation_p.S29C|GLS_uc010zgj.1_5'Flank	p.S458C	NM_014905	NP_055720	O94925	GLSK_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		12	1636	+			458					Q9UL05|Q9UL06|Q9UL07|Q9UN40	Missense_Mutation	SNP	ENST00000320717.3	37	c.1372A>T	CCDS2308.1	.	.	.	.	.	.	.	.	.	.	A	28.3	4.908162	0.92107	.	.	ENSG00000115419	ENST00000320717;ENST00000338435;ENST00000409626;ENST00000457316	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	5.62	5.62	0.85841	Beta-lactamase/transpeptidase-like (1);	0.000000	0.85682	D	0.000000	T	0.80803	0.4693	H	0.98111	4.15	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;0.999;1.0;0.999	D	0.88182	0.2871	10	0.87932	D	0	-19.152	16.1219	0.81365	1.0:0.0:0.0:0.0	.	29;458;112;458;458	B7Z2P1;A8K132;Q68D38;O94925;O94925-3	.;.;.;GLSK_HUMAN;.	C	458;458;29;29	ENSP00000317379:S458C;ENSP00000340689:S458C;ENSP00000386417:S29C;ENSP00000395596:S29C	ENSP00000317379:S458C	S	+	1	0	GLS	191500400	1.000000	0.71417	0.997000	0.53966	0.951000	0.60555	9.287000	0.95975	2.254000	0.74563	0.528000	0.53228	AGT		PASS	0.428	GLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255999.2			28	72	28	72	---	---	---	---
SMARCAL1	50485	broad.mit.edu	37	2	217293404	217293404	+	Missense_Mutation	SNP	G	G	C			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr2:217293404G>C	ENST00000357276.4	+	7	1563	c.1233G>C	c.(1231-1233)aaG>aaC	p.K411N	SMARCAL1_ENST00000479008.1_3'UTR|SMARCAL1_ENST00000358207.5_Missense_Mutation_p.K411N	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	411					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)	p.K411N(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		AGCTCAAGAAGACATCTCTCA	0.537									Schimke Immuno-Osseous Dysplasia																													uc002vgc.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(3)|skin(1)	7						c.(1231-1233)AAG>AAC		SWI/SNF-related matrix-associated							147.0	134.0	138.0					2																	217293404		2203	4300	6503	SO:0001583	missense	50485	Schimke_Immuno-Osseous_Dysplasia	Familial Cancer Database	SIOD	chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity	g.chr2:217293404G>C	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"""HepA-related protein"", ""ATP-driven annealing helicase"""	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.1233G>C	2.37:g.217293404G>C	ENSP00000349823:p.Lys411Asn					SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Missense_Mutation_p.K411N|SMARCAL1_uc010fvg.2_Missense_Mutation_p.K411N	p.K411N	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)	7	1563	+		Renal(323;0.0458)	411					A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Missense_Mutation	SNP	ENST00000357276.4	37	c.1233G>C	CCDS2403.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.217862	0.39201	.	.	ENSG00000138375	ENST00000357276;ENST00000358207;ENST00000427645;ENST00000392128;ENST00000412913	D;D;T;D;T	0.86694	-2.12;-2.12;1.22;-2.16;0.48	6.07	4.26	0.50523	.	0.248736	0.47852	D	0.000208	D	0.82829	0.5122	L	0.59436	1.845	0.43435	D	0.995609	B	0.16166	0.016	B	0.14578	0.011	T	0.77003	-0.2749	10	0.45353	T	0.12	-19.5659	7.9914	0.30242	0.2499:0.0:0.7501:0.0	.	411	Q9NZC9	SMAL1_HUMAN	N	411;411;293;275;131	ENSP00000349823:K411N;ENSP00000350940:K411N;ENSP00000392997:K293N;ENSP00000375974:K275N;ENSP00000390248:K131N	ENSP00000349823:K411N	K	+	3	2	SMARCAL1	217001649	1.000000	0.71417	1.000000	0.80357	0.578000	0.36192	1.637000	0.37155	0.878000	0.35920	0.655000	0.94253	AAG		PASS	0.537	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2			41	107	41	107	---	---	---	---
SP100	6672	broad.mit.edu	37	2	231326018	231326018	+	Missense_Mutation	SNP	T	T	C			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr2:231326018T>C	ENST00000264052.5	+	9	1217	c.862T>C	c.(862-864)Tcc>Ccc	p.S288P	SP100_ENST00000427101.2_Missense_Mutation_p.S263P|SP100_ENST00000409112.1_Missense_Mutation_p.S288P|SP100_ENST00000409897.1_Missense_Mutation_p.S253P|SP100_ENST00000409341.1_Missense_Mutation_p.S288P|SP100_ENST00000341950.4_Missense_Mutation_p.S288P|SP100_ENST00000409824.1_Missense_Mutation_p.S263P|SP100_ENST00000340126.4_Missense_Mutation_p.S288P	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	288					cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.S288P(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CCAAATTAATTCCTGTTCTGT	0.403																																						uc002vqt.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(1)	5						c.(862-864)TCC>CCC		nuclear antigen Sp100 isoform 2							87.0	86.0	87.0					2																	231326018		2203	4300	6503	SO:0001583	missense	6672				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding	g.chr2:231326018T>C	AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.862T>C	2.37:g.231326018T>C	ENSP00000264052:p.Ser288Pro					SP100_uc002vqs.2_Missense_Mutation_p.S288P|SP100_uc002vqu.1_Missense_Mutation_p.S288P|SP100_uc010zmb.1_Missense_Mutation_p.S288P|SP100_uc002vqq.1_Missense_Mutation_p.S288P|SP100_uc002vqr.1_Missense_Mutation_p.S263P|SP100_uc010zmc.1_Missense_Mutation_p.S263P|SP100_uc002vqv.1_Missense_Mutation_p.S252P	p.S288P	NM_003113	NP_003104	P23497	SP100_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	9	1003	+		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)	288			PxVxL motif.		B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	ENST00000264052.5	37	c.862T>C	CCDS2477.1	.	.	.	.	.	.	.	.	.	.	T	7.357	0.624011	0.14193	.	.	ENSG00000067066	ENST00000264052;ENST00000427101;ENST00000409824;ENST00000409341;ENST00000409112;ENST00000340126;ENST00000341950;ENST00000409897	T;T;T;T;D;T;T;T	0.84370	1.8;1.7;1.69;1.68;-1.84;-0.27;1.6;1.69	4.14	0.566	0.17317	.	0.269507	0.19982	N	0.101746	T	0.66761	0.2822	N	0.12746	0.255	0.19775	N	0.999955	B;B;B;B;B;B;B;B	0.27559	0.181;0.064;0.114;0.106;0.029;0.064;0.064;0.181	B;B;B;B;B;B;B;B	0.26864	0.074;0.02;0.034;0.045;0.018;0.02;0.02;0.074	T	0.54009	-0.8357	10	0.27082	T	0.32	.	5.8057	0.18438	0.0:0.356:0.0:0.644	.	263;288;253;288;288;288;263;288	F8WFE2;B4E2B9;B8ZZD8;P23497-4;P23497;E7EUA7;E9PHV6;P23497-2	.;.;.;.;SP100_HUMAN;.;.;.	P	288;263;263;288;288;288;288;253	ENSP00000264052:S288P;ENSP00000399389:S263P;ENSP00000387311:S263P;ENSP00000386404:S288P;ENSP00000386427:S288P;ENSP00000343023:S288P;ENSP00000342729:S288P;ENSP00000386998:S253P	ENSP00000264052:S288P	S	+	1	0	SP100	231034262	0.007000	0.16637	0.285000	0.24819	0.017000	0.09413	-0.463000	0.06696	0.093000	0.17368	-0.256000	0.11100	TCC		PASS	0.403	SP100-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256914.2	NM_003113		10	47	10	47	---	---	---	---
DGKD	8527	broad.mit.edu	37	2	234372821	234372821	+	Silent	SNP	G	G	C	rs377191277		TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr2:234372821G>C	ENST00000264057.2	+	27	3210	c.3198G>C	c.(3196-3198)ccG>ccC	p.P1066P	DGKD_ENST00000409813.3_Silent_p.P1022P	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	1066					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.P1066P(1)		central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	AGCTGGATCCGCCTCAGAAGG	0.677																																						uc002vui.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|pancreas(1)|lung(1)|skin(1)	5						c.(3196-3198)CCG>CCC		diacylglycerol kinase, delta 130kDa isoform 2	Phosphatidylserine(DB00144)						32.0	37.0	35.0					2																	234372821		2203	4299	6502	SO:0001819	synonymous_variant	8527				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr2:234372821G>C	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.3198G>C	2.37:g.234372821G>C						DGKD_uc002vuj.1_Silent_p.P1022P|DGKD_uc010fyi.1_RNA	p.P1066P	NM_152879	NP_690618	Q16760	DGKD_HUMAN		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	27	3210	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)	1066					Q14158|Q6PK55|Q8NG53	Silent	SNP	ENST00000264057.2	37	c.3198G>C	CCDS2504.1																																																																																				PASS	0.677	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648		14	45	14	45	---	---	---	---
FBLN2	2199	broad.mit.edu	37	3	13671366	13671366	+	Silent	SNP	G	G	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr3:13671366G>A	ENST00000295760.7	+	13	2817	c.2748G>A	c.(2746-2748)acG>acA	p.T916T	FBLN2_ENST00000404922.3_Silent_p.T963T|FBLN2_ENST00000492059.1_Silent_p.T963T|FBLN2_ENST00000535798.1_Silent_p.T942T	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	916	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)	p.T963T(1)|p.T382T(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GCCAGCACACGTGTGAGAACA	0.647																																						uc011avb.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(2746-2748)ACG>ACA		fibulin 2 isoform b precursor							21.0	25.0	24.0					3																	13671366		2136	4242	6378	SO:0001819	synonymous_variant	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13671366G>A	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.2748G>A	3.37:g.13671366G>A						FBLN2_uc011auz.1_Silent_p.T942T|FBLN2_uc011ava.1_Silent_p.T963T|FBLN2_uc011avc.1_Silent_p.T963T	p.T916T	NM_001998	NP_001989	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		13	2873	+			916			EGF-like 7; calcium-binding.		B7Z9C5|Q8IUI0|Q8IUI1	Silent	SNP	ENST00000295760.7	37	c.2748G>A	CCDS46762.1																																																																																				PASS	0.647	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019		6	6	6	6	---	---	---	---
FBXW12	285231	broad.mit.edu	37	3	48423471	48423471	+	Silent	SNP	C	C	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr3:48423471C>A	ENST00000296438.5	+	10	1377	c.1191C>A	c.(1189-1191)tcC>tcA	p.S397S	RN7SL321P_ENST00000581742.1_RNA|FBXW12_ENST00000436231.1_Silent_p.S240S|FBXW12_ENST00000445170.1_Silent_p.S378S|FBXW12_ENST00000468158.1_3'UTR|FBXW12_ENST00000415155.1_Silent_p.S327S	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12	397								p.S397S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCACCACATCCGAGAACTCTG	0.507																																						uc003csr.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1189-1191)TCC>TCA		F-box and WD repeat domain containing 12 isoform							148.0	136.0	140.0					3																	48423471		2203	4300	6503	SO:0001819	synonymous_variant	285231							g.chr3:48423471C>A	AK097594, AY247969	CCDS2764.1, CCDS54577.1, CCDS54578.1	3p21.31	2011-07-01	2007-02-08	2004-07-21	ENSG00000164049	ENSG00000164049		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	20729	protein-coding gene	gene with protein product		609075	"""F-box only protein 35"", ""F-box and WD-40 domain protein 12"""	FBXO35		15040455	Standard	NM_207102		Approved	Fbw12	uc010hjv.3	Q6X9E4	OTTHUMG00000133530	ENST00000296438.5:c.1191C>A	3.37:g.48423471C>A						FBXW12_uc010hjv.2_Silent_p.S378S|FBXW12_uc003css.2_Silent_p.S327S|FBXW12_uc010hjw.2_Silent_p.S296S	p.S397S	NM_207102	NP_996985	Q6X9E4	FBW12_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	10	1377	+			397			WD 5.		E9PG36|Q494Y9|Q494Z0	Silent	SNP	ENST00000296438.5	37	c.1191C>A	CCDS2764.1																																																																																				PASS	0.507	FBXW12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257505.1	NM_207102		4	96	4	96	---	---	---	---
COL7A1	1294	broad.mit.edu	37	3	48612666	48612666	+	Nonsense_Mutation	SNP	C	C	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr3:48612666C>A	ENST00000328333.8	-	74	6297	c.6190G>T	c.(6190-6192)Gga>Tga	p.G2064*	COL7A1_ENST00000454817.1_Nonsense_Mutation_p.G2032*	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2064	Triple-helical region.		G -> R (in DDEB). {ECO:0000269|PubMed:20598510, ECO:0000269|PubMed:9856843}.		cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.G2064*(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCTTTCTCTCCCCGTTCTCCC	0.632																																						uc003ctz.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11	GRCh37	CM980411	COL7A1	M		c.(6190-6192)GGA>TGA		alpha 1 type VII collagen precursor							142.0	147.0	145.0					3																	48612666		2203	4300	6503	SO:0001587	stop_gained	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48612666C>A	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.6190G>T	3.37:g.48612666C>A	ENSP00000332371:p.Gly2064*						p.G2064*	NM_000094	NP_000085	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	74	6191	-			2064		G -> R (in DDEB).	Triple-helical region.		Q14054|Q16507	Nonsense_Mutation	SNP	ENST00000328333.8	37	c.6190G>T	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	47	13.535340	0.99748	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	.	.	.	5.22	4.35	0.52113	.	0.000000	0.39407	N	0.001365	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.8502	0.57852	0.0:0.9212:0.0:0.0788	.	.	.	.	X	2064;2032	.	ENSP00000332371:G2064X	G	-	1	0	COL7A1	48587670	1.000000	0.71417	0.998000	0.56505	0.947000	0.59692	6.237000	0.72345	1.198000	0.43158	-0.251000	0.11542	GGA		PASS	0.632	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		37	54	37	54	---	---	---	---
P4HTM	54681	broad.mit.edu	37	3	49044195	49044195	+	Missense_Mutation	SNP	A	A	G			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr3:49044195A>G	ENST00000383729.4	+	9	1735	c.1364A>G	c.(1363-1365)aAc>aGc	p.N455S	WDR6_ENST00000448293.1_5'Flank|WDR6_ENST00000415265.2_5'Flank|P4HTM_ENST00000343546.4_Missense_Mutation_p.N516S|WDR6_ENST00000608424.1_5'Flank|WDR6_ENST00000395474.3_5'Flank	NM_177939.2	NP_808808.1	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	455	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)	p.N455S(1)|p.N516S(1)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	TGGATTGCCAACAACTGGATT	0.632																																						uc003cvg.2																			2	Substitution - Missense(2)		lung(2)	skin(1)|pancreas(1)	2						c.(1363-1365)AAC>AGC		hypoxia-inducible factor prolyl 4-hydroxylase	Vitamin C(DB00126)						54.0	52.0	53.0					3																	49044195		2203	4300	6503	SO:0001583	missense	54681					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr3:49044195A>G		CCDS2781.2, CCDS43089.1	3p21.31	2009-01-14			ENSG00000178467	ENSG00000178467			28858	protein-coding gene	gene with protein product	"""Prolyl hydroxlase domain-containing 4"", ""hypoxia inducible factor prolyl 4 hydroxylase"""	614584				12163023, 17726031	Standard	XR_245139		Approved	P4H-TM, PHD4, PH4, HIFPH4, FLJ20262, EGLN4, PH-4	uc003cvh.3	Q9NXG6	OTTHUMG00000074057	ENST00000383729.4:c.1364A>G	3.37:g.49044195A>G	ENSP00000373235:p.Asn455Ser					P4HTM_uc003cvh.2_Missense_Mutation_p.N516S|WDR6_uc011bbx.1_5'Flank|WDR6_uc003cvj.2_5'Flank|WDR6_uc011bby.1_5'Flank|WDR6_uc010hkn.2_5'Flank|WDR6_uc011bbz.1_5'Flank	p.N455S	NM_177939	NP_808808	Q9NXG6	P4HTM_HUMAN			9	1713	+			455			Lumenal (Potential).|Fe2OG dioxygenase.		Q6PAG6|Q8TCJ9|Q8WV55|Q96F22|Q9BW77	Missense_Mutation	SNP	ENST00000383729.4	37	c.1364A>G	CCDS43089.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.097327	0.76870	.	.	ENSG00000178467	ENST00000383729;ENST00000343546	T	0.58940	0.3	5.51	5.51	0.81932	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.047005	0.85682	D	0.000000	T	0.58438	0.2122	L	0.47016	1.485	0.36754	D	0.882937	P;B	0.37708	0.606;0.084	B;B	0.43701	0.428;0.048	T	0.67070	-0.5763	10	0.51188	T	0.08	-39.8824	14.8059	0.69956	1.0:0.0:0.0:0.0	.	516;455	Q9NXG6-3;Q9NXG6	.;P4HTM_HUMAN	S	455;516	ENSP00000373235:N455S	ENSP00000341422:N516S	N	+	2	0	P4HTM	49019199	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.144000	0.77357	2.093000	0.63338	0.533000	0.62120	AAC		PASS	0.632	P4HTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157211.1	NM_177938		23	32	23	32	---	---	---	---
GNAT1	2779	broad.mit.edu	37	3	50231296	50231296	+	Missense_Mutation	SNP	T	T	G			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr3:50231296T>G	ENST00000433068.1	+	5	616	c.560T>G	c.(559-561)tTc>tGc	p.F187C	GNAT1_ENST00000481246.1_3'UTR|GNAT1_ENST00000232461.3_Missense_Mutation_p.F187C	NM_000172.3	NP_000163.2	P11488	GNAT1_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1	187					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular response to electrical stimulus (GO:0071257)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|phototransduction, visible light (GO:0007603)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to light intensity (GO:0009642)|response to light stimulus (GO:0009416)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	acyl binding (GO:0000035)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.F187C(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CAGTTCTCCTTCAAGGATCTC	0.652																																						uc003cym.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(559-561)TTC>TGC		rod-type transducin alpha subunit							80.0	73.0	76.0					3																	50231296		2203	4300	6503	SO:0001583	missense	2779				detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity	g.chr3:50231296T>G		CCDS2812.1	3p21	2014-01-28			ENSG00000114349	ENSG00000114349			4393	protein-coding gene	gene with protein product		139330					Standard	NM_000172		Approved	CSNBAD3	uc003cyl.2	P11488	OTTHUMG00000156808	ENST00000433068.1:c.560T>G	3.37:g.50231296T>G	ENSP00000387555:p.Phe187Cys					GNAT1_uc003cyl.2_Missense_Mutation_p.F187C	p.F187C	NM_144499	NP_653082	P11488	GNAT1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	5	676	+			187					Q4VBN2	Missense_Mutation	SNP	ENST00000433068.1	37	c.560T>G	CCDS2812.1	.	.	.	.	.	.	.	.	.	.	T	15.47	2.843543	0.51057	.	.	ENSG00000114349	ENST00000232461;ENST00000433068	D;D	0.89485	-2.52;-2.52	5.7	5.7	0.88788	.	0.049130	0.85682	D	0.000000	D	0.85822	0.5786	L	0.44542	1.39	0.58432	D	0.999998	B	0.10296	0.003	B	0.17722	0.019	T	0.82174	-0.0588	10	0.56958	D	0.05	.	14.9525	0.71086	0.0:0.0:0.0:1.0	.	187	P11488	GNAT1_HUMAN	C	187	ENSP00000232461:F187C;ENSP00000387555:F187C	ENSP00000232461:F187C	F	+	2	0	GNAT1	50206300	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.675000	0.61619	2.189000	0.69895	0.459000	0.35465	TTC		PASS	0.652	GNAT1-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000345957.1	NM_000172		28	39	28	39	---	---	---	---
KIAA2018	205717	broad.mit.edu	37	3	113377404	113377404	+	Missense_Mutation	SNP	C	C	G			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr3:113377404C>G	ENST00000478658.1	-	5	3142	c.3125G>C	c.(3124-3126)aGt>aCt	p.S1042T	KIAA2018_ENST00000316407.4_Missense_Mutation_p.S1042T|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	1042						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.S1042T(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TAAATTCACACTTGAATCAAC	0.358																																						uc003eam.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(3124-3126)AGT>ACT		hypothetical protein LOC205717							136.0	125.0	129.0					3																	113377404		1880	4111	5991	SO:0001583	missense	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113377404C>G	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.3125G>C	3.37:g.113377404C>G	ENSP00000420721:p.Ser1042Thr					KIAA2018_uc003eal.2_Missense_Mutation_p.S986T	p.S1042T	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN			7	3536	-			1042					Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	c.3125G>C	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.594675	0.00126	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.14391	2.51;2.51	4.97	2.0	0.26442	.	0.779052	0.12417	N	0.470766	T	0.05914	0.0154	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44128	-0.9348	10	0.05525	T	0.97	-0.3419	5.4827	0.16733	0.0:0.5732:0.1454:0.2815	.	1042	Q68DE3	K2018_HUMAN	T	1042	ENSP00000320794:S1042T;ENSP00000420721:S1042T	ENSP00000320794:S1042T	S	-	2	0	KIAA2018	114860094	0.176000	0.23096	0.007000	0.13788	0.610000	0.37248	0.148000	0.16224	0.093000	0.17368	0.455000	0.32223	AGT		PASS	0.358	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		3	104	3	104	---	---	---	---
ADPRH	141	broad.mit.edu	37	3	119301046	119301047	+	Missense_Mutation	DNP	GA	GA	TC			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr3:119301046_119301047GA>TC	ENST00000478399.1	+	2	1435_1436	c.30_31GA>TC	c.(28-33)ctGAgt>ctTCgt	p.S11R	ADPRH_ENST00000478927.1_Missense_Mutation_p.S11R|ADPRH_ENST00000465513.1_Missense_Mutation_p.S11R|RP11-190C22.9_ENST00000609385.1_RNA|ADPRH_ENST00000471850.1_Intron|ADPRH_ENST00000357003.3_Missense_Mutation_p.S11R			P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	11					cellular protein modification process (GO:0006464)|protein de-ADP-ribosylation (GO:0051725)		ADP-ribosylarginine hydrolase activity (GO:0003875)|magnesium ion binding (GO:0000287)	p.S11R(2)|p.L10L(1)		breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		CTATGGTGCTGAGTGCAGCTGG	0.545																																					GBM(133;579 1804 5989 9967 40052)	uc003ecs.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(1)	1						c.(28-30)CTG>CTT|c.(31-33)AGT>CGT		ADP-ribosylarginine hydrolase																																				SO:0001583	missense	141				protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding	g.chr3:119301046G>T|g.chr3:119301047A>C	L13291	CCDS2990.1	3q13.31-q13.33	2004-02-27			ENSG00000144843	ENSG00000144843			269	protein-coding gene	gene with protein product		603081				8349667, 12070318	Standard	NM_001125		Approved	ARH1	uc003ecs.3	P54922	OTTHUMG00000159420	Exception_encountered	3.37:g.119301046_119301047delinsTC	ENSP00000420200:p.Ser11Arg					ADPRH_uc010hqv.2_Silent_p.L10L|ADPRH_uc011bjb.1_Intron|ADPRH_uc003ect.2_Silent_p.L10L|ADPRH_uc010hqv.2_Missense_Mutation_p.S11R|ADPRH_uc011bjb.1_Intron|ADPRH_uc003ect.2_Missense_Mutation_p.S11R	p.L10L|p.S11R	NM_001125	NP_001116	P54922	ADPRH_HUMAN		GBM - Glioblastoma multiforme(114;0.23)	3	328|329	+		Lung NSC(201;0.0977)	10|11					B2R8H1|D3DN83	Silent|Missense_Mutation	SNP	ENST00000478399.1	37	c.30G>T|c.31A>C	CCDS2990.1																																																																																				PASS	0.545	ADPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355199.1	NM_001125		17|16	59|57	16	57	---	---	---	---
UROC1	131669	broad.mit.edu	37	3	126224833	126224833	+	Silent	SNP	A	A	G			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr3:126224833A>G	ENST00000290868.2	-	7	677	c.624T>C	c.(622-624)ggT>ggC	p.G208G	UROC1_ENST00000383579.3_Silent_p.G208G	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	208					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)	p.G208G(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		AGCAGTAGCTACCTGCTGTCA	0.637																																						uc003eiz.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(622-624)GGT>GGC		urocanase domain containing 1 isoform 1							57.0	54.0	55.0					3																	126224833		2203	4300	6503	SO:0001819	synonymous_variant	131669				histidine catabolic process	cytosol	urocanate hydratase activity	g.chr3:126224833A>G	AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"""urocanase 1"""	613012	"""urocanase domain containing 1"""			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.624T>C	3.37:g.126224833A>G						UROC1_uc010hsi.1_Silent_p.G208G	p.G208G	NM_144639	NP_653240	Q96N76	HUTU_HUMAN		GBM - Glioblastoma multiforme(114;0.17)	7	656	-			208					E9PE13|Q14C64|Q68CJ7	Silent	SNP	ENST00000290868.2	37	c.624T>C	CCDS3038.1																																																																																				PASS	0.637	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	NM_144639		3	64	3	64	---	---	---	---
PLSCR2	57047	broad.mit.edu	37	3	146173087	146173087	+	Missense_Mutation	SNP	A	A	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr3:146173087A>T	ENST00000497985.1	-	6	918	c.479T>A	c.(478-480)gTc>gAc	p.V160D	PLSCR2_ENST00000336685.2_Missense_Mutation_p.V87D	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	160					phospholipid scrambling (GO:0017121)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid scramblase activity (GO:0017128)	p.V160D(1)|p.V87D(1)		endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						CAGAGTTATGACTTCTCGACC	0.408																																						uc003evv.1																			2	Substitution - Missense(2)		lung(2)		0						c.(259-261)GTC>GAC		phospholipid scramblase 2							139.0	132.0	134.0					3																	146173087		2203	4300	6503	SO:0001583	missense	57047				phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity	g.chr3:146173087A>T		CCDS56284.1, CCDS3134.1, CCDS75029.1	3q24	2008-07-18			ENSG00000163746	ENSG00000163746			16494	protein-coding gene	gene with protein product		607610				10930526	Standard	NM_001199978		Approved		uc003evw.2	Q9NRY7	OTTHUMG00000159429	ENST00000497985.1:c.479T>A	3.37:g.146173087A>T	ENSP00000420132:p.Val160Asp					PLSCR2_uc003evw.1_Missense_Mutation_p.V156D	p.V87D	NM_020359	NP_065092	Q9NRY7	PLS2_HUMAN			5	593	-			87			Cytoplasmic (By similarity).		B4DXC3|J3KR76|Q0VAQ1|Q6NSW9|Q7Z4L7	Missense_Mutation	SNP	ENST00000497985.1	37	c.260T>A	CCDS56284.1	.	.	.	.	.	.	.	.	.	.	.	23.2	4.387100	0.82902	.	.	ENSG00000163746	ENST00000336685;ENST00000535500;ENST00000497985;ENST00000489015	T;T;T	0.36157	1.27;1.27;1.27	3.1	3.1	0.35709	.	0.199725	0.18748	U	0.132275	T	0.70649	0.3248	H	0.96604	3.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.992	T	0.80111	-0.1519	10	0.87932	D	0	.	12.3575	0.55184	1.0:0.0:0.0:0.0	.	180;87	Q7Z4L7;Q9NRY7	.;PLS2_HUMAN	D	87;179;160;87	ENSP00000338707:V87D;ENSP00000420132:V160D;ENSP00000418444:V87D	ENSP00000338707:V87D	V	-	2	0	PLSCR2	147655777	1.000000	0.71417	0.759000	0.31340	0.505000	0.33919	8.654000	0.91092	1.653000	0.50694	0.455000	0.32223	GTC		PASS	0.408	PLSCR2-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000355264.1	NM_020359		45	116	45	116	---	---	---	---
GPR149	344758	broad.mit.edu	37	3	154146767	154146767	+	Missense_Mutation	SNP	G	G	C			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr3:154146767G>C	ENST00000389740.2	-	1	737	c.638C>G	c.(637-639)aCt>aGt	p.T213S		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	213					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.T213S(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CAATCGGTGAGTGAGTGGGAC	0.592																																						uc003faa.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)	6						c.(637-639)ACT>AGT		G protein-coupled receptor 149							53.0	60.0	58.0					3																	154146767		1960	4140	6100	SO:0001583	missense	344758					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:154146767G>C	AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"""GPCR / Class A : Orphans"""	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.638C>G	3.37:g.154146767G>C	ENSP00000374390:p.Thr213Ser						p.T213S	NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		1	738	-			213			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000389740.2	37	c.638C>G	CCDS43162.1	.	.	.	.	.	.	.	.	.	.	G	10.97	1.501502	0.26861	.	.	ENSG00000174948	ENST00000389740	T	0.37058	1.22	5.41	1.43	0.22495	GPCR, rhodopsin-like superfamily (1);	0.204258	0.50627	D	0.000103	T	0.44726	0.1307	M	0.66939	2.045	0.35199	D	0.774101	P	0.49783	0.928	P	0.51974	0.686	T	0.56727	-0.7931	10	0.87932	D	0	-0.1756	9.5018	0.39022	0.3692:0.0:0.6308:0.0	.	213	Q86SP6	GP149_HUMAN	S	213	ENSP00000374390:T213S	ENSP00000374390:T213S	T	-	2	0	GPR149	155629461	0.984000	0.35163	0.024000	0.17045	0.000000	0.00434	1.763000	0.38461	-0.024000	0.13941	-0.345000	0.07892	ACT		PASS	0.592	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		61	122	61	122	---	---	---	---
C3orf33	285315	broad.mit.edu	37	3	155493633	155493633	+	Nonsense_Mutation	SNP	G	G	C			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr3:155493633G>C	ENST00000340171.2	-	3	277	c.179C>G	c.(178-180)tCa>tGa	p.S60*	C3orf33_ENST00000534941.1_Nonsense_Mutation_p.S17*			Q6P1S2	CC033_HUMAN	chromosome 3 open reading frame 33	60					negative regulation of ERK1 and ERK2 cascade (GO:0070373)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)	p.S11*(1)		breast(1)|kidney(1)|large_intestine(3)|lung(3)	8			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TGTAAATTTTGATGTCTATTG	0.284																																						uc003fal.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(49-51)TCA>TGA		hypothetical protein LOC285315							80.0	78.0	79.0					3																	155493633		1789	4054	5843	SO:0001587	stop_gained	285315						hydrolase activity, acting on ester bonds|nucleic acid binding	g.chr3:155493633G>C	AF115515	CCDS54659.1	3q25.31	2012-10-31			ENSG00000174928	ENSG00000174928			26434	protein-coding gene	gene with protein product						20680465	Standard	NM_173657		Approved	FLJ31139, AC3-33	uc003fal.1	Q6P1S2	OTTHUMG00000158496	ENST00000340171.2:c.179C>G	3.37:g.155493633G>C	ENSP00000342512:p.Ser60*					C3orf33_uc003fam.1_Nonsense_Mutation_p.S60*	p.S17*	NM_173657	NP_775928	Q96NB5	Q96NB5_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		4	320	-			17					A8K1H5|Q86YE6|Q8IXA7|Q96NB5	Nonsense_Mutation	SNP	ENST00000340171.2	37	c.50C>G		.	.	.	.	.	.	.	.	.	.	G	33	5.282320	0.95489	.	.	ENSG00000174928	ENST00000534941;ENST00000340171;ENST00000537385	.	.	.	5.43	4.52	0.55395	.	0.270733	0.35838	N	0.002946	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-1.8137	14.4572	0.67425	0.0:0.0:0.8522:0.1478	.	.	.	.	X	17;60;60	.	ENSP00000342512:S60X	S	-	2	0	C3orf33	156976327	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	4.608000	0.61141	2.547000	0.85894	0.655000	0.94253	TCA		PASS	0.284	C3orf33-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351167.1	NM_173657		7	198	7	198	---	---	---	---
GFM1	85476	broad.mit.edu	37	3	158371155	158371155	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr3:158371155C>A	ENST00000486715.1	+	7	1254	c.897C>A	c.(895-897)agC>agA	p.S299R	GFM1_ENST00000478576.1_Missense_Mutation_p.S299R|GFM1_ENST00000264263.5_Missense_Mutation_p.S318R	NM_024996.5	NP_079272.4			G elongation factor, mitochondrial 1									p.S299R(1)|p.S33R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TTTTGGGAAGCGCCTTGAAGA	0.353																																						uc003fce.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(1)	4						c.(895-897)AGC>AGA		G elongation factor, mitochondrial 1 precursor							87.0	87.0	87.0					3																	158371155		2203	4300	6503	SO:0001583	missense	85476				mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity	g.chr3:158371155C>A	AF309777	CCDS33885.1	3q25	2008-02-05			ENSG00000168827	ENSG00000168827			13780	protein-coding gene	gene with protein product		606639	"""G translation elongation factor, mitochondrial"""			11374907, 11735030	Standard	NM_024996		Approved	EFGM, GFM, EGF1	uc003fce.3	Q96RP9	OTTHUMG00000158804	ENST00000486715.1:c.897C>A	3.37:g.158371155C>A	ENSP00000419038:p.Ser299Arg					GFM1_uc003fcd.2_Missense_Mutation_p.S299R|GFM1_uc003fcf.2_RNA|GFM1_uc003fcg.2_Missense_Mutation_p.S230R	p.S299R	NM_024996	NP_079272	Q96RP9	EFGM_HUMAN	Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		7	1004	+			299						Missense_Mutation	SNP	ENST00000486715.1	37	c.897C>A	CCDS33885.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.864349	0.51482	.	.	ENSG00000168827	ENST00000486715;ENST00000478576;ENST00000264263;ENST00000312756	D;D;D	0.81659	-1.52;-1.52;-1.52	5.8	-2.15	0.07102	Protein synthesis factor, GTP-binding (1);	0.095295	0.64402	D	0.000001	D	0.93612	0.7960	H	0.99946	5.015	0.80722	D	1	D;D;D	0.59357	0.981;0.985;0.985	D;D;D	0.70935	0.952;0.958;0.971	D	0.91765	0.5423	10	0.87932	D	0	-6.2639	11.4097	0.49919	0.0:0.3284:0.0:0.6716	.	318;299;299	Q96RP9-2;Q96RP9;C9IZ01	.;EFGM_HUMAN;.	R	299;299;318;33	ENSP00000419038:S299R;ENSP00000418755:S299R;ENSP00000264263:S318R	ENSP00000264263:S318R	S	+	3	2	GFM1	159853849	0.854000	0.29725	0.968000	0.41197	0.519000	0.34347	-0.104000	0.10923	-0.637000	0.05516	-1.106000	0.02097	AGC		PASS	0.353	GFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352271.1	NM_024996		38	73	38	73	---	---	---	---
RTP1	132112	broad.mit.edu	37	3	186915549	186915549	+	Missense_Mutation	SNP	G	G	C			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr3:186915549G>C	ENST00000312295.4	+	1	276	c.246G>C	c.(244-246)caG>caC	p.Q82H	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	82					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)	p.Q82H(1)		breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		GTTGGAAGCAGTACCTGGAAT	0.572																																						uc003frg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(244-246)CAG>CAC		receptor transporting protein 1							103.0	89.0	93.0					3																	186915549		2203	4300	6503	SO:0001583	missense	132112				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	g.chr3:186915549G>C	BC034744	CCDS3287.2	3q27.3	2014-02-20	2006-11-21		ENSG00000175077	ENSG00000175077		"""Receptor transporter proteins"""	28580	protein-coding gene	gene with protein product	"""receptor transporting protein 1"", ""zinc finger, 3CxxC-type 1"""	609137	"""receptor transporter protein 1"""			16271481, 15550249, 16720576	Standard	NM_153708		Approved	MGC35450, Z3CXXC1	uc003frg.3	P59025	OTTHUMG00000149886	ENST00000312295.4:c.246G>C	3.37:g.186915549G>C	ENSP00000311712:p.Gln82His						p.Q82H	NM_153708	NP_714919	P59025	RTP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)	1	276	+	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		82			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000312295.4	37	c.246G>C	CCDS3287.2	.	.	.	.	.	.	.	.	.	.	G	18.43	3.621522	0.66787	.	.	ENSG00000175077	ENST00000312295	T	0.17054	2.3	5.93	5.06	0.68205	.	0.282091	0.40144	N	0.001167	T	0.38772	0.1053	M	0.71871	2.18	0.27745	N	0.944342	D	0.76494	0.999	D	0.72625	0.978	T	0.30297	-0.9983	10	0.87932	D	0	.	10.9485	0.47315	0.0855:0.0:0.9145:0.0	.	82	P59025	RTP1_HUMAN	H	82	ENSP00000311712:Q82H	ENSP00000311712:Q82H	Q	+	3	2	RTP1	188398243	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	3.345000	0.52182	1.517000	0.48917	0.655000	0.94253	CAG		PASS	0.572	RTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313731.2	NM_153708		20	234	20	234	---	---	---	---
MFI2	4241	broad.mit.edu	37	3	196754711	196754711	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr3:196754711G>T	ENST00000296350.5	-	2	233	c.120C>A	c.(118-120)agC>agA	p.S40R	MFI2_ENST00000296351.4_Missense_Mutation_p.S40R	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	40	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of plasminogen activation (GO:0010756)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ferric iron binding (GO:0008199)|iron ion binding (GO:0005506)	p.S40R(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		GGAAGGCCTCGCTCATGTTGC	0.701																																						uc003fxk.3																			2	Substitution - Missense(2)		lung(2)		0						c.(118-120)AGC>AGA		melanoma-associated antigen p97 isoform 1							54.0	48.0	50.0					3																	196754711		2203	4298	6501	SO:0001583	missense	4241				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding	g.chr3:196754711G>T		CCDS3325.1, CCDS3326.1	3q28-q29	2012-10-02			ENSG00000163975	ENSG00000163975		"""CD molecules"""	7037	protein-coding gene	gene with protein product	"""melanotransferrin"", ""membrane-bound transferrin-like protein"""	155750					Standard	NM_033316		Approved	CD228, FLJ38863, MAP97, MGC4856, MTF1	uc003fxk.4	P08582	OTTHUMG00000155518	ENST00000296350.5:c.120C>A	3.37:g.196754711G>T	ENSP00000296350:p.Ser40Arg					MFI2_uc003fxl.3_Missense_Mutation_p.S40R|MFI2_uc011bua.1_Missense_Mutation_p.S40R	p.S40R	NM_005929	NP_005920	P08582	TRFM_HUMAN	Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)	2	233	-	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		40			Transferrin-like 1.		Q9BQE2	Missense_Mutation	SNP	ENST00000296350.5	37	c.120C>A	CCDS3325.1	.	.	.	.	.	.	.	.	.	.	g	10.75	1.439165	0.25900	.	.	ENSG00000163975	ENST00000296350;ENST00000296351;ENST00000439320	T;T;T	0.31510	1.49;1.49;1.49	5.0	4.03	0.46877	.	0.505964	0.24325	N	0.039502	T	0.34890	0.0913	L	0.33710	1.025	0.21782	N	0.999542	D;D;D	0.69078	0.996;0.996;0.997	D;D;D	0.67725	0.922;0.953;0.952	T	0.12578	-1.0542	10	0.18710	T	0.47	-39.0666	7.0374	0.25000	0.0936:0.0:0.6385:0.2678	.	40;40;40	P08582-2;Q53XS6;P08582	.;.;TRFM_HUMAN	R	40	ENSP00000296350:S40R;ENSP00000296351:S40R;ENSP00000393439:S40R	ENSP00000296350:S40R	S	-	3	2	MFI2	198239108	0.110000	0.22057	1.000000	0.80357	0.251000	0.25915	0.680000	0.25306	2.312000	0.78011	0.556000	0.70494	AGC		PASS	0.701	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340458.1			3	35	3	35	---	---	---	---
NKX3-2	579	broad.mit.edu	37	4	13544131	13544131	+	Missense_Mutation	SNP	T	T	C			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr4:13544131T>C	ENST00000382438.5	-	2	1123	c.488A>G	c.(487-489)gAg>gGg	p.E163G		NM_001189.3	NP_001180.1	P78367	NKX32_HUMAN	NK3 homeobox 2	163					determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|intestinal epithelial cell development (GO:0060576)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|organ formation (GO:0048645)|pancreas development (GO:0031016)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|spleen development (GO:0048536)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.E163G(1)		breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						ACCGTCGTCCTCGGTCCTTGG	0.726																																						uc003gmx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(487-489)GAG>GGG		NK3 homeobox 2							17.0	20.0	19.0					4																	13544131		1750	3356	5106	SO:0001583	missense	579				negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr4:13544131T>C	AF009801	CCDS3410.1	4p16.3	2012-03-09	2007-07-26	2007-07-26	ENSG00000109705	ENSG00000109705		"""Homeoboxes / ANTP class : NKL subclass"""	951	protein-coding gene	gene with protein product		602183	"""bagpipe homeobox homolog 1 (Drosophila)"""	BAPX1		9344671	Standard	NM_001189		Approved	NKX3B, NKX3.2	uc003gmx.2	P78367	OTTHUMG00000090657	ENST00000382438.5:c.488A>G	4.37:g.13544131T>C	ENSP00000371875:p.Glu163Gly						p.E163G	NM_001189	NP_001180	P78367	NKX32_HUMAN			2	564	-			163					Q2M2I7	Missense_Mutation	SNP	ENST00000382438.5	37	c.488A>G	CCDS3410.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.374011	0.82573	.	.	ENSG00000109705	ENST00000382438	D	0.92048	-2.96	5.31	4.14	0.48551	.	0.218039	0.37955	N	0.001877	D	0.83700	0.5311	N	0.24115	0.695	0.36887	D	0.889718	B	0.17667	0.023	B	0.14023	0.01	T	0.80453	-0.1376	10	0.36615	T	0.2	.	7.0661	0.25154	0.0:0.0998:0.0:0.9002	.	163	P78367	NKX32_HUMAN	G	163	ENSP00000371875:E163G	ENSP00000371875:E163G	E	-	2	0	NKX3-2	13153229	0.007000	0.16637	0.994000	0.49952	0.891000	0.51852	0.624000	0.24462	2.010000	0.58986	0.459000	0.35465	GAG		PASS	0.726	NKX3-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207317.3			3	32	3	32	---	---	---	---
PACRGL	133015	broad.mit.edu	37	4	20715163	20715163	+	Splice_Site	SNP	G	G	T	rs548171843		TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr4:20715163G>T	ENST00000503585.1	+	7	1000		c.e7+1		PACRGL_ENST00000513459.1_Splice_Site|PACRGL_ENST00000507634.1_Splice_Site|PACRGL_ENST00000295290.8_Splice_Site|PACRGL_ENST00000360916.5_Splice_Site|PACRGL_ENST00000444671.2_Splice_Site|PACRGL_ENST00000502938.1_Intron|PACRGL_ENST00000538990.1_Splice_Site|PACRGL_ENST00000502374.1_Splice_Site	NM_001258345.1	NP_001245274.1	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like									p.?(1)		endometrium(2)|lung(7)|prostate(1)	10						GCTTACAAGCGTAAGTACTGC	0.368																																						uc010iek.2																			1	Unknown(1)		lung(1)		0						c.e7+1		PARK2 co-regulated-like isoform 1							184.0	146.0	159.0					4																	20715163		2203	4300	6503	SO:0001630	splice_region_variant	133015						binding	g.chr4:20715163G>T	AK098692	CCDS3427.1, CCDS47034.1, CCDS58895.1, CCDS58896.1	4p15.31	2008-10-02	2008-10-02	2008-10-02	ENSG00000163138	ENSG00000163138			28442	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 28"""	C4orf28		12477932	Standard	NM_145048		Approved	MGC29898	uc010iek.3	Q8N7B6	OTTHUMG00000128550	ENST00000503585.1:c.609+1G>T	4.37:g.20715163G>T						PACRGL_uc003gpu.2_Splice_Site|PACRGL_uc003gpz.2_Splice_Site_p.S203_splice|PACRGL_uc011bxm.1_Splice_Site_p.S150_splice|PACRGL_uc003gqa.2_Splice_Site_p.S105_splice|PACRGL_uc003gpx.3_Splice_Site|PACRGL_uc003gpv.2_Splice_Site_p.S203_splice|PACRGL_uc003gpw.2_Splice_Site|PACRGL_uc010iej.1_Splice_Site|PACRGL_uc011bxn.1_Splice_Site_p.S105_splice|PACRGL_uc003gpy.2_Splice_Site_p.S150_splice	p.S203_splice	NM_145048	NP_659485	Q8N7B6	PACRL_HUMAN			7	1000	+								B2RDB9|B4DFF8|B4DMN7|Q8TBA8	Splice_Site	SNP	ENST00000503585.1	37	c.609_splice	CCDS58895.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.704441	0.68615	.	.	ENSG00000163138	ENST00000503585;ENST00000360916;ENST00000295290;ENST00000444671;ENST00000502374;ENST00000538990;ENST00000507634;ENST00000513459	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6973	0.96031	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PACRGL	20324261	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	7.083000	0.76859	2.674000	0.91012	0.655000	0.94253	.		PASS	0.368	PACRGL-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360321.2	NM_145048	Intron	18	44	18	44	---	---	---	---
TECRL	253017	broad.mit.edu	37	4	65175582	65175582	+	Missense_Mutation	SNP	C	C	G			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr4:65175582C>G	ENST00000381210.3	-	6	729	c.619G>C	c.(619-621)Gtt>Ctt	p.V207L	TECRL_ENST00000507440.1_Missense_Mutation_p.V207L|TECRL_ENST00000513125.1_5'UTR	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	207					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)	p.V207L(1)		endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						CCTGCAGAAACTTTGTGAACA	0.318																																						uc003hcv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(619-621)GTT>CTT		steroid 5 alpha-reductase 2-like 2							110.0	117.0	115.0					4																	65175582		2203	4300	6503	SO:0001583	missense	253017				lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	g.chr4:65175582C>G	AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"""glycoprotein, synaptic 2-like"""					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.619G>C	4.37:g.65175582C>G	ENSP00000370607:p.Val207Leu					TECRL_uc003hcw.2_Missense_Mutation_p.V207L	p.V207L	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN			6	728	-			207						Missense_Mutation	SNP	ENST00000381210.3	37	c.619G>C	CCDS33990.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.326794	0.41197	.	.	ENSG00000205678	ENST00000507440;ENST00000381210	T;T	0.76060	-0.99;1.82	5.11	4.25	0.50352	.	0.142523	0.48286	D	0.000181	T	0.54775	0.1879	N	0.13043	0.29	0.26034	N	0.981709	B;B	0.09022	0.002;0.001	B;B	0.11329	0.006;0.003	T	0.47649	-0.9101	10	0.56958	D	0.05	-23.4328	7.1408	0.25554	0.1633:0.5895:0.2472:0.0	.	207;207	Q6IN47;Q5HYJ1	.;TECRL_HUMAN	L	207	ENSP00000426043:V207L;ENSP00000370607:V207L	ENSP00000370607:V207L	V	-	1	0	TECRL	64858177	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	1.322000	0.33689	2.370000	0.80446	0.555000	0.69702	GTT		PASS	0.318	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361705.4	NM_001010874		57	127	57	127	---	---	---	---
SHROOM3	57619	broad.mit.edu	37	4	77676030	77676030	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr4:77676030G>T	ENST00000296043.6	+	7	5347	c.4394G>T	c.(4393-4395)aGt>aTt	p.S1465I	RP11-359D14.2_ENST00000452412.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1465					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)		p.S1464I(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			AGTCTTCCAAGTTTATGCAGC	0.562																																						uc011cbx.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(4393-4395)AGT>ATT		shroom family member 3 protein							61.0	65.0	64.0					4																	77676030		2203	4300	6503	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77676030G>T	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.4394G>T	4.37:g.77676030G>T	ENSP00000296043:p.Ser1465Ile					SHROOM3_uc003hkg.2_Missense_Mutation_p.S1243I	p.S1465I	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		7	5347	+			1465					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.4394G>T	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	G	13.39	2.222892	0.39300	.	.	ENSG00000138771	ENST00000296043	T	0.25749	1.78	5.23	3.52	0.40303	.	0.822627	0.11419	N	0.566020	T	0.30510	0.0767	L	0.32530	0.975	0.09310	N	1	D	0.63880	0.993	P	0.56343	0.796	T	0.10474	-1.0628	10	0.66056	D	0.02	-6.9522	6.1573	0.20344	0.1705:0.1985:0.6311:0.0	.	1465	Q8TF72	SHRM3_HUMAN	I	1465	ENSP00000296043:S1465I	ENSP00000296043:S1465I	S	+	2	0	SHROOM3	77895054	0.018000	0.18449	0.009000	0.14445	0.005000	0.04900	0.639000	0.24690	0.795000	0.33922	-0.150000	0.13652	AGT		PASS	0.562	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		6	110	6	110	---	---	---	---
GPRIN3	285513	broad.mit.edu	37	4	90169836	90169836	+	Missense_Mutation	SNP	A	A	G			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr4:90169836A>G	ENST00000609438.1	-	2	1944	c.1426T>C	c.(1426-1428)Tgc>Cgc	p.C476R	GPRIN3_ENST00000333209.4_Missense_Mutation_p.C476R	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	476								p.C476R(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		GCTTGACTGCATGCACTGATA	0.453																																						uc003hsm.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1426-1428)TGC>CGC		G protein-regulated inducer of neurite outgrowth							96.0	100.0	99.0					4																	90169836		2203	4300	6503	SO:0001583	missense	285513							g.chr4:90169836A>G	AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.1426T>C	4.37:g.90169836A>G	ENSP00000476603:p.Cys476Arg						p.C476R	NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)	2	1945	-		Hepatocellular(203;0.114)	476					Q8IVE4	Missense_Mutation	SNP	ENST00000609438.1	37	c.1426T>C	CCDS34030.1	.	.	.	.	.	.	.	.	.	.	A	9.279	1.047570	0.19827	.	.	ENSG00000185477	ENST00000333209	T	0.09911	2.93	5.31	2.39	0.29439	.	0.513841	0.14598	N	0.309817	T	0.04588	0.0125	N	0.14661	0.345	0.09310	N	1	B	0.29531	0.247	B	0.29077	0.098	T	0.36311	-0.9753	10	0.17832	T	0.49	-0.3526	0.683	0.00878	0.3336:0.3144:0.1344:0.2176	.	476	Q6ZVF9	GRIN3_HUMAN	R	476	ENSP00000328672:C476R	ENSP00000328672:C476R	C	-	1	0	GPRIN3	90388859	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	0.452000	0.21795	0.792000	0.33850	-0.213000	0.12676	TGC		PASS	0.453	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2	NM_198281		8	115	8	115	---	---	---	---
HSPA4L	22824	broad.mit.edu	37	4	128725243	128725243	+	Splice_Site	SNP	G	G	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr4:128725243G>T	ENST00000296464.4	+	8	1396		c.e8+1		HSPA4L_ENST00000505726.1_Splice_Site|HSPA4L_ENST00000439123.2_Splice_Site|HSPA4L_ENST00000508776.1_Splice_Site	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like						protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)	p.?(1)		central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GAACAAGCTAGTAAGTGGAAA	0.338																																						uc003ifm.2																			1	Unknown(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.e8+1		heat shock 70kDa protein 4-like							71.0	70.0	71.0					4																	128725243		2203	4300	6503	SO:0001630	splice_region_variant	22824				protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding	g.chr4:128725243G>T	AB023421	CCDS3734.1	4q28	2011-09-07			ENSG00000164070	ENSG00000164070		"""Heat shock proteins / HSP70"""	17041	protein-coding gene	gene with protein product						10524232	Standard	NM_014278		Approved	APG-1, Osp94, HSPH3	uc003ifm.3	O95757	OTTHUMG00000133302	ENST00000296464.4:c.985+1G>T	4.37:g.128725243G>T						HSPA4L_uc010iny.1_Splice_Site_p.N288_splice|HSPA4L_uc011cgr.1_Splice_Site_p.N296_splice	p.N329_splice	NM_014278	NP_055093	O95757	HS74L_HUMAN			8	1238	+								A2ICT2|Q4W5M5|Q8IWA2	Splice_Site	SNP	ENST00000296464.4	37	c.985_splice	CCDS3734.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.349418	0.82132	.	.	ENSG00000164070	ENST00000508776;ENST00000439123;ENST00000296464;ENST00000508549;ENST00000505726	.	.	.	4.54	4.54	0.55810	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4697	0.87642	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HSPA4L	128944693	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	8.783000	0.91813	2.336000	0.79503	0.460000	0.39030	.		PASS	0.338	HSPA4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257096.3	NM_014278	Intron	18	72	18	72	---	---	---	---
KIAA0922	23240	broad.mit.edu	37	4	154523864	154523864	+	Missense_Mutation	SNP	C	C	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr4:154523864C>T	ENST00000409663.3	+	23	2673	c.2621C>T	c.(2620-2622)aCg>aTg	p.T874M	KIAA0922_ENST00000409959.3_Missense_Mutation_p.T875M|KIAA0922_ENST00000440693.1_Missense_Mutation_p.T791M	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	874						integral component of membrane (GO:0016021)		p.T875M(1)|p.T727M(1)		breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				TGGAGGCTCACGGTCTTCTTT	0.512																																						uc003inm.3																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(2620-2622)ACG>ATG		hypothetical protein LOC23240 isoform 2							160.0	159.0	160.0					4																	154523864		2203	4300	6503	SO:0001583	missense	23240					integral to membrane		g.chr4:154523864C>T	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.2621C>T	4.37:g.154523864C>T	ENSP00000386574:p.Thr874Met					KIAA0922_uc010ipp.2_Missense_Mutation_p.T875M|KIAA0922_uc010ipq.2_Missense_Mutation_p.T643M	p.T874M	NM_015196	NP_056011	A2VDJ0	T131L_HUMAN			23	2673	+	all_hematologic(180;0.093)	Renal(120;0.118)	874			Helical; (Potential).		B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	37	c.2621C>T	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	C	20.8	4.044169	0.75732	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.19669	2.41;2.13;2.41;2.13	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.46483	0.1395	M	0.64404	1.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.97110	0.999;1.0;0.917	T	0.17228	-1.0376	10	0.42905	T	0.14	-18.075	19.6869	0.95982	0.0:1.0:0.0:0.0	.	791;875;874	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	M	874;791;875;652	ENSP00000386574:T874M;ENSP00000409663:T791M;ENSP00000386787:T875M;ENSP00000240487:T652M	ENSP00000240487:T652M	T	+	2	0	KIAA0922	154743314	1.000000	0.71417	0.950000	0.38849	0.657000	0.38888	5.665000	0.68052	2.726000	0.93360	0.655000	0.94253	ACG		PASS	0.512	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		13	207	13	207	---	---	---	---
DCHS2	54798	broad.mit.edu	37	4	155155906	155155906	+	Missense_Mutation	SNP	T	T	G			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr4:155155906T>G	ENST00000357232.4	-	25	8532	c.8533A>C	c.(8533-8535)Aac>Cac	p.N2845H		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2845					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N2845H(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGCCCCAGGTTTACTGCCGGC	0.502																																						uc003inw.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(8533-8535)AAC>CAC		dachsous 2 isoform 1							117.0	119.0	118.0					4																	155155906		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155155906T>G	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.8533A>C	4.37:g.155155906T>G	ENSP00000349768:p.Asn2845His						p.N2845H	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	25	8533	-	all_hematologic(180;0.208)	Renal(120;0.0854)	2845					B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.8533A>C	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	T	10.80	1.452955	0.26161	.	.	ENSG00000197410	ENST00000357232	T	0.52754	0.65	5.93	-5.36	0.02689	.	1.110330	0.06717	N	0.774135	T	0.19927	0.0479	N	0.08118	0	0.09310	N	1	B	0.26002	0.139	B	0.27170	0.077	T	0.18587	-1.0332	10	0.20519	T	0.43	.	2.3488	0.04278	0.1573:0.1024:0.2692:0.471	.	2845	Q6V1P9	PCD23_HUMAN	H	2845	ENSP00000349768:N2845H	ENSP00000349768:N2845H	N	-	1	0	DCHS2	155375356	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.065000	0.14466	-0.411000	0.07530	-0.331000	0.08364	AAC		PASS	0.502	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		69	131	69	131	---	---	---	---
TKTL2	84076	broad.mit.edu	37	4	164393737	164393737	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr4:164393737C>A	ENST00000280605.3	-	1	1310	c.1150G>T	c.(1150-1152)Ggt>Tgt	p.G384C		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	384						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)	p.G384C(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ATGGTTCGACCACGTGTAGCA	0.433																																						uc003iqp.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|pancreas(1)	5						c.(1150-1152)GGT>TGT		transketolase-like 2							87.0	87.0	87.0					4																	164393737		2203	4300	6503	SO:0001583	missense	84076					cytoplasm	metal ion binding|transketolase activity	g.chr4:164393737C>A	BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"""similar to transketolase"""					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.1150G>T	4.37:g.164393737C>A	ENSP00000280605:p.Gly384Cys						p.G384C	NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN			1	1311	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	384					A4FVB4|Q8NCT0|Q96M82	Missense_Mutation	SNP	ENST00000280605.3	37	c.1150G>T	CCDS3805.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.165722	0.57476	.	.	ENSG00000151005	ENST00000280605	D	0.94046	-3.34	4.29	4.29	0.51040	Transketolase-like, pyrimidine-binding domain (2);	0.414642	0.25247	N	0.032052	D	0.97090	0.9049	H	0.96301	3.8	0.29600	N	0.847768	D	0.64830	0.994	D	0.67382	0.951	D	0.93130	0.6532	10	0.59425	D	0.04	-3.0055	8.3122	0.32077	0.0:0.8958:0.0:0.1042	.	384	Q9H0I9	TKTL2_HUMAN	C	384	ENSP00000280605:G384C	ENSP00000280605:G384C	G	-	1	0	TKTL2	164613187	0.992000	0.36948	0.016000	0.15963	0.995000	0.86356	3.008000	0.49544	2.677000	0.91161	0.655000	0.94253	GGT		PASS	0.433	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136		19	67	19	67	---	---	---	---
TKTL2	84076	broad.mit.edu	37	4	164394531	164394531	+	Missense_Mutation	SNP	A	A	G			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr4:164394531A>G	ENST00000280605.3	-	1	516	c.356T>C	c.(355-357)gTt>gCt	p.V119A		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	119						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)	p.V119A(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGCCACGTCAACAAACGGCAA	0.542																																						uc003iqp.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|pancreas(1)	5						c.(355-357)GTT>GCT		transketolase-like 2							105.0	92.0	96.0					4																	164394531		2203	4300	6503	SO:0001583	missense	84076					cytoplasm	metal ion binding|transketolase activity	g.chr4:164394531A>G	BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"""similar to transketolase"""					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.356T>C	4.37:g.164394531A>G	ENSP00000280605:p.Val119Ala						p.V119A	NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN			1	517	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	119					A4FVB4|Q8NCT0|Q96M82	Missense_Mutation	SNP	ENST00000280605.3	37	c.356T>C	CCDS3805.1	.	.	.	.	.	.	.	.	.	.	A	10.53	1.376554	0.24857	.	.	ENSG00000151005	ENST00000280605	T	0.38722	1.12	3.99	1.62	0.23740	Transketolase, N-terminal (1);	0.074750	0.52532	N	0.000068	T	0.59905	0.2228	M	0.89287	3.02	0.50467	D	0.999874	D	0.55385	0.971	P	0.60068	0.868	T	0.59091	-0.7519	10	0.52906	T	0.07	-12.7602	6.6847	0.23138	0.7936:0.0:0.2064:0.0	.	119	Q9H0I9	TKTL2_HUMAN	A	119	ENSP00000280605:V119A	ENSP00000280605:V119A	V	-	2	0	TKTL2	164613981	0.999000	0.42202	0.056000	0.19401	0.025000	0.11179	4.016000	0.57159	0.365000	0.24400	0.459000	0.35465	GTT		PASS	0.542	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136		18	47	18	47	---	---	---	---
GHR	2690	broad.mit.edu	37	5	42695031	42695031	+	Silent	SNP	A	A	G			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr5:42695031A>G	ENST00000230882.4	+	5	469	c.279A>G	c.(277-279)gaA>gaG	p.E93E	GHR_ENST00000357703.3_Silent_p.E71E|GHR_ENST00000537449.1_5'UTR	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	93					2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)	p.E93E(1)		NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	ACactcaagaatggactcaag	0.353																																						uc003jmt.2																			1	Substitution - coding silent(1)		lung(1)	lung(4)|kidney(1)|skin(1)	6						c.(277-279)GAA>GAG		growth hormone receptor precursor	Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						112.0	110.0	111.0					5																	42695031		2202	4300	6502	SO:0001819	synonymous_variant	2690				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding	g.chr5:42695031A>G		CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"""Fibronectin type III domain containing"""	4263	protein-coding gene	gene with protein product	"""growth hormone binding protein"""	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.279A>G	5.37:g.42695031A>G						GHR_uc011cpq.1_5'UTR	p.E93E	NM_000163	NP_000154	P10912	GHR_HUMAN			5	322	+		Myeloproliferative disorder(839;0.00878)	93			Extracellular (Potential).		Q9HCX2	Silent	SNP	ENST00000230882.4	37	c.279A>G	CCDS3940.1																																																																																				PASS	0.353	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211605.2	NM_000163		10	23	10	23	---	---	---	---
PARP8	79668	broad.mit.edu	37	5	50137846	50137846	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr5:50137846G>A	ENST00000281631.5	+	26	2667	c.2509G>A	c.(2509-2511)Gga>Aga	p.G837R	PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514067.2_Missense_Mutation_p.G795R|PARP8_ENST00000505697.2_Missense_Mutation_p.G837R|PARP8_ENST00000503750.2_Missense_Mutation_p.G795R|PARP8_ENST00000505554.1_Missense_Mutation_p.G816R	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	837	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.					intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.G837R(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TACACAAGAAGGAGGCATTCA	0.358																																						uc003jon.3																			1	Substitution - Missense(1)		lung(1)	lung(3)|large_intestine(1)|ovary(1)	5						c.(2509-2511)GGA>AGA		poly (ADP-ribose) polymerase family, member 8							93.0	88.0	90.0					5																	50137846		2203	4300	6503	SO:0001583	missense	79668					intracellular	NAD+ ADP-ribosyltransferase activity	g.chr5:50137846G>A	AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"""Poly (ADP-ribose) polymerases"""	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.2509G>A	5.37:g.50137846G>A	ENSP00000281631:p.Gly837Arg					PARP8_uc011cpz.1_Missense_Mutation_p.G729R|PARP8_uc003joo.2_Missense_Mutation_p.G837R|PARP8_uc003jop.2_Missense_Mutation_p.G795R	p.G837R	NM_024615	NP_078891	Q8N3A8	PARP8_HUMAN			27	2691	+		Lung NSC(810;0.0305)|Breast(144;0.222)	837			PARP catalytic.		Q3KRB7|Q6DHZ1|Q9H754	Missense_Mutation	SNP	ENST00000281631.5	37	c.2509G>A	CCDS3954.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.409820	0.42715	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000281631;ENST00000514067;ENST00000505554	.	.	.	6.08	6.08	0.98989	Poly(ADP-ribose) polymerase, catalytic domain (1);	0.205941	0.39020	N	0.001483	T	0.41003	0.1140	N	0.08118	0	0.80722	D	1	B;P;B	0.39883	0.145;0.693;0.38	B;P;B	0.46237	0.093;0.508;0.147	T	0.29119	-1.0022	8	.	.	.	-17.0856	14.9536	0.71094	0.0:0.2486:0.7514:0.0	.	729;795;837	B4DQ81;Q8N3A8-2;Q8N3A8	.;.;PARP8_HUMAN	R	837;795;837;795;816	.	.	G	+	1	0	PARP8	50173603	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.100000	0.41777	2.894000	0.99253	0.655000	0.94253	GGA		PASS	0.358	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	NM_024615		19	79	19	79	---	---	---	---
PARP8	79668	broad.mit.edu	37	5	50137849	50137849	+	Missense_Mutation	SNP	G	G	C			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr5:50137849G>C	ENST00000281631.5	+	26	2670	c.2512G>C	c.(2512-2514)Ggc>Cgc	p.G838R	PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514067.2_Missense_Mutation_p.G796R|PARP8_ENST00000505697.2_Missense_Mutation_p.G838R|PARP8_ENST00000503750.2_Missense_Mutation_p.G796R|PARP8_ENST00000505554.1_Missense_Mutation_p.G817R	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	838	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.					intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.G838R(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				ACAAGAAGGAGGCATTCACAA	0.363																																						uc003jon.3																			1	Substitution - Missense(1)		lung(1)	lung(3)|large_intestine(1)|ovary(1)	5						c.(2512-2514)GGC>CGC		poly (ADP-ribose) polymerase family, member 8							92.0	87.0	88.0					5																	50137849		2203	4300	6503	SO:0001583	missense	79668					intracellular	NAD+ ADP-ribosyltransferase activity	g.chr5:50137849G>C	AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"""Poly (ADP-ribose) polymerases"""	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.2512G>C	5.37:g.50137849G>C	ENSP00000281631:p.Gly838Arg					PARP8_uc011cpz.1_Missense_Mutation_p.G730R|PARP8_uc003joo.2_Missense_Mutation_p.G838R|PARP8_uc003jop.2_Missense_Mutation_p.G796R	p.G838R	NM_024615	NP_078891	Q8N3A8	PARP8_HUMAN			27	2694	+		Lung NSC(810;0.0305)|Breast(144;0.222)	838			PARP catalytic.		Q3KRB7|Q6DHZ1|Q9H754	Missense_Mutation	SNP	ENST00000281631.5	37	c.2512G>C	CCDS3954.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.907849	0.52333	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000281631;ENST00000514067;ENST00000505554	.	.	.	6.08	6.08	0.98989	Poly(ADP-ribose) polymerase, catalytic domain (1);	0.112267	0.64402	D	0.000012	T	0.34658	0.0905	N	0.08118	0	0.80722	D	1	P;P;P	0.44946	0.468;0.846;0.761	B;P;B	0.50617	0.322;0.646;0.443	T	0.12889	-1.0530	8	.	.	.	-13.8442	8.0027	0.30306	0.1836:0.0:0.8164:0.0	.	730;796;838	B4DQ81;Q8N3A8-2;Q8N3A8	.;.;PARP8_HUMAN	R	838;796;838;796;817	.	.	G	+	1	0	PARP8	50173606	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.653000	0.54446	2.894000	0.99253	0.655000	0.94253	GGC		PASS	0.363	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	NM_024615		19	74	19	74	---	---	---	---
TMEM161B	153396	broad.mit.edu	37	5	87493533	87493533	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr5:87493533G>A	ENST00000296595.6	-	11	1263	c.1139C>T	c.(1138-1140)gCg>gTg	p.A380V	TMEM161B_ENST00000512429.1_Missense_Mutation_p.A369V|TMEM161B_ENST00000506536.1_Intron|TMEM161B_ENST00000511218.1_Missense_Mutation_p.A171V|TMEM161B_ENST00000515293.1_5'UTR|TMEM161B_ENST00000514135.1_Missense_Mutation_p.A380V	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	380						integral component of membrane (GO:0016021)		p.A380V(1)		endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		TACCAGAGGCGCCACATACTG	0.418																																						uc003kjc.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(1138-1140)GCG>GTG		transmembrane protein 161B							137.0	138.0	138.0					5																	87493533		2203	4300	6503	SO:0001583	missense	153396					integral to membrane		g.chr5:87493533G>A	BC037287	CCDS4065.1, CCDS75269.1, CCDS75270.1	5q14.3	2008-02-05			ENSG00000164180	ENSG00000164180			28483	protein-coding gene	gene with protein product						12477932	Standard	NM_001289008		Approved	MGC33214	uc003kjc.3	Q8NDZ6	OTTHUMG00000131323	ENST00000296595.6:c.1139C>T	5.37:g.87493533G>A	ENSP00000296595:p.Ala380Val					TMEM161B_uc011cty.1_Missense_Mutation_p.A369V|TMEM161B_uc010jax.2_RNA|TMEM161B_uc011ctx.1_Missense_Mutation_p.A171V	p.A380V	NM_153354	NP_699185	Q8NDZ6	T161B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)	11	1264	-		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)	380			Helical; (Potential).		Q5CZH7|Q6UWQ6	Missense_Mutation	SNP	ENST00000296595.6	37	c.1139C>T	CCDS4065.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132454	0.77662	.	.	ENSG00000164180	ENST00000514135;ENST00000296595;ENST00000511218;ENST00000512429	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.58323	0.2114	L	0.49350	1.555	0.80722	D	1	B;B	0.31153	0.031;0.31	B;B	0.24006	0.02;0.05	T	0.53816	-0.8385	9	0.32370	T	0.25	-23.7403	20.3465	0.98790	0.0:0.0:1.0:0.0	.	171;380	B7Z6A5;Q8NDZ6	.;T161B_HUMAN	V	380;380;171;369	.	ENSP00000296595:A380V	A	-	2	0	TMEM161B	87529289	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.034000	0.88864	2.798000	0.96311	0.655000	0.94253	GCG		PASS	0.418	TMEM161B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254094.1	NM_153354		9	115	9	115	---	---	---	---
PAM	5066	broad.mit.edu	37	5	102295636	102295636	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr5:102295636G>T	ENST00000438793.3	+	12	1433	c.963G>T	c.(961-963)aaG>aaT	p.K321N	PAM_ENST00000348126.2_Missense_Mutation_p.K321N|PAM_ENST00000304400.7_Missense_Mutation_p.K321N|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000274392.9_Missense_Mutation_p.K224N|PAM_ENST00000346918.2_Missense_Mutation_p.K321N|PAM_ENST00000455264.2_Missense_Mutation_p.K321N	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	321	Peptidylglycine alpha-hydroxylating monooxygenase. {ECO:0000250}.				central nervous system development (GO:0007417)|heart development (GO:0007507)|lactation (GO:0007595)|limb development (GO:0060173)|long-chain fatty acid metabolic process (GO:0001676)|maternal process involved in female pregnancy (GO:0060135)|odontogenesis (GO:0042476)|ovulation cycle process (GO:0022602)|peptide amidation (GO:0001519)|protein amidation (GO:0018032)|protein homooligomerization (GO:0051260)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of protein secretion (GO:0050708)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to pH (GO:0009268)|toxin metabolic process (GO:0009404)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|L-ascorbic acid binding (GO:0031418)|peptidylamidoglycolate lyase activity (GO:0004598)|peptidylglycine monooxygenase activity (GO:0004504)|zinc ion binding (GO:0008270)	p.K321N(2)		endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	TGGAAGCCAAGCATGCAGTTT	0.393																																						uc003knw.2																			2	Substitution - Missense(2)		lung(2)		0						c.(961-963)AAG>AAT		peptidylglycine alpha-amidating monooxygenase	Vitamin C(DB00126)						147.0	133.0	137.0					5																	102295636		2203	4300	6503	SO:0001583	missense	5066				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding	g.chr5:102295636G>T	AB095007	CCDS4092.1, CCDS4093.1, CCDS4094.1, CCDS43348.1, CCDS54885.1	5q	2008-02-05			ENSG00000145730	ENSG00000145730	1.14.17.3		8596	protein-coding gene	gene with protein product	"""peptidyl-alpha-hydroxyglycine alpha-amidating lyase"", ""peptidylglycine alpha-hydroxylating monooxygenase"""	170270				2357221	Standard	NM_000919		Approved	PAL, PHM	uc003knt.3	P19021	OTTHUMG00000128729	ENST00000438793.3:c.963G>T	5.37:g.102295636G>T	ENSP00000396493:p.Lys321Asn					PAM_uc003kns.2_Missense_Mutation_p.K321N|PAM_uc003knt.2_Missense_Mutation_p.K321N|PAM_uc003knu.2_Missense_Mutation_p.K321N|PAM_uc003knv.2_Missense_Mutation_p.K321N|PAM_uc011cuz.1_Missense_Mutation_p.K224N|PAM_uc003knx.1_Missense_Mutation_p.K13N	p.K321N	NM_000919	NP_000910	P19021	AMD_HUMAN		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	12	1336	+		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)	321			Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).|Intragranular (Potential).		A6NMR0|A8K293|O43211|O95080|Q16252|Q16253|Q54A45|Q86U53|Q8WVC7|Q9UCG0	Missense_Mutation	SNP	ENST00000438793.3	37	c.963G>T	CCDS54885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.15|17.15	3.315450|3.315450	0.60524|0.60524	.|.	.|.	ENSG00000145730|ENSG00000145730	ENST00000379799|ENST00000438793;ENST00000346918;ENST00000348126;ENST00000304400;ENST00000274392;ENST00000455264	.|T;T;T;T;T;T	.|0.62941	.|-0.01;-0.01;-0.01;-0.01;-0.01;-0.01	5.58|5.58	4.7|4.7	0.59300|0.59300	.|PHM/PNGase F domain (1);Copper type II, ascorbate-dependent monooxygenase-like, C-terminal (1);	.|0.279972	.|0.40064	.|N	.|0.001193	T|T	0.62490|0.62490	0.2432|0.2432	L|L	0.37630|0.37630	1.12|1.12	0.80722|0.80722	D|D	1|1	.|P;P;P;P;P;P	.|0.46784	.|0.859;0.884;0.859;0.879;0.859;0.879	.|P;P;P;P;P;B	.|0.57009	.|0.712;0.811;0.712;0.664;0.712;0.301	T|T	0.59941|0.59941	-0.7359|-0.7359	5|10	.|0.33940	.|T	.|0.23	.|.	7.6282|7.6282	0.28224|0.28224	0.1452:0.1357:0.7191:0.0|0.1452:0.1357:0.7191:0.0	.|.	.|224;321;321;321;321;321	.|F8WE90;P19021;P19021-4;P19021-3;P19021-5;P19021-2	.|.;AMD_HUMAN;.;.;.;.	S|N	94|321;321;321;321;224;321	.|ENSP00000396493:K321N;ENSP00000282992:K321N;ENSP00000314638:K321N;ENSP00000306100:K321N;ENSP00000274392:K224N;ENSP00000403461:K321N	.|ENSP00000274392:K224N	A|K	+|+	1|3	0|2	PAM|PAM	102323535|102323535	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	0.758000|0.758000	0.26447|0.26447	1.333000|1.333000	0.45449|0.45449	0.460000|0.460000	0.39030|0.39030	GCA|AAG		PASS	0.393	PAM-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250640.2	NM_000919		22	24	22	24	---	---	---	---
PRR16	51334	broad.mit.edu	37	5	119800226	119800226	+	Silent	SNP	C	C	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr5:119800226C>A	ENST00000407149.2	+	1	254	c.45C>A	c.(43-45)gcC>gcA	p.A15A	PRR16_ENST00000379551.2_5'UTR			Q569H4	LARGN_HUMAN	proline rich 16	15					positive regulation of cell size (GO:0045793)|positive regulation of translation (GO:0045727)					endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		CCTGTCCAGCCGAGGGACCGC	0.612																																						uc003ksq.2																			0				pancreas(2)|ovary(1)	3						c.(43-45)GCC>GCA		proline rich 16							16.0	15.0	15.0					5																	119800226		876	1989	2865	SO:0001819	synonymous_variant	51334							g.chr5:119800226C>A	AF242769	CCDS4127.1, CCDS75290.1	5q23.1	2006-08-22			ENSG00000184838	ENSG00000184838			29654	protein-coding gene	gene with protein product		615931				15971941	Standard	XM_005272010		Approved	DSC54	uc003ksp.3	Q569H4	OTTHUMG00000128903	ENST00000407149.2:c.45C>A	5.37:g.119800226C>A						PRR16_uc003ksp.2_5'UTR	p.A15A	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)	1	208	+		all_cancers(142;0.0464)|Prostate(80;0.00446)	15					D3DSZ0|Q8IXY1|Q9NYI5	Silent	SNP	ENST00000407149.2	37	c.45C>A																																																																																					PASS	0.612	PRR16-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371059.1	NM_016644		4	8	4	8	---	---	---	---
DPYSL3	1809	broad.mit.edu	37	5	146777324	146777324	+	Missense_Mutation	SNP	C	C	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr5:146777324C>T	ENST00000398514.3	-	12	1737	c.1366G>A	c.(1366-1368)Gat>Aat	p.D456N	DPYSL3_ENST00000343218.5_Missense_Mutation_p.D570N|DPYSL3_ENST00000534907.1_Missense_Mutation_p.D82N	NM_001387.2	NP_001378.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	456					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cell migration (GO:0030336)|negative regulation of neuron projection development (GO:0010977)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron projection development (GO:0010976)|protein homooligomerization (GO:0051260)|pyrimidine nucleobase catabolic process (GO:0006208)|response to axon injury (GO:0048678)	cell body (GO:0044297)|cytosol (GO:0005829)|extracellular space (GO:0005615)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|lamellipodium (GO:0030027)	chondroitin sulfate binding (GO:0035374)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)|SH3 domain binding (GO:0017124)	p.D456N(1)		breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTTGCCATCTTCCAGCATG	0.577																																						uc003lon.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1366-1368)GAT>AAT		dihydropyrimidinase-like 3							67.0	72.0	71.0					5																	146777324		2053	4219	6272	SO:0001583	missense	1809				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity	g.chr5:146777324C>T	D78014	CCDS43381.1, CCDS56387.1	5q32	2008-02-05							3015	protein-coding gene	gene with protein product		601168				8973361, 9115293	Standard	NM_001197294		Approved	DRP-3, ULIP, CRMP4	uc003loo.3	Q14195		ENST00000398514.3:c.1366G>A	5.37:g.146777324C>T	ENSP00000381526:p.Asp456Asn					DPYSL3_uc003loo.2_Missense_Mutation_p.D570N	p.D456N	NM_001387	NP_001378	Q14195	DPYL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		12	1476	-			456					B3SXQ8|Q93012	Missense_Mutation	SNP	ENST00000398514.3	37	c.1366G>A	CCDS43381.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.194247	0.58017	.	.	ENSG00000113657	ENST00000398514;ENST00000343218;ENST00000534907	T;T;T	0.74737	-0.87;-0.87;-0.87	6.03	6.03	0.97812	Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	T	0.74688	0.3749	L	0.47716	1.5	0.80722	D	1	P;B	0.38642	0.641;0.001	B;B	0.42738	0.396;0.0	T	0.69487	-0.5132	10	0.28530	T	0.3	-11.0191	20.5753	0.99366	0.0:1.0:0.0:0.0	.	570;456	B3SXQ8;Q14195	.;DPYL3_HUMAN	N	456;570;82	ENSP00000381526:D456N;ENSP00000343690:D570N;ENSP00000441819:D82N	ENSP00000343690:D570N	D	-	1	0	DPYSL3	146757517	1.000000	0.71417	0.790000	0.31976	0.636000	0.38137	7.797000	0.85911	2.868000	0.98415	0.557000	0.71058	GAT		PASS	0.577	DPYSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373421.2	NM_001387		58	24	58	24	---	---	---	---
ADAM19	8728	broad.mit.edu	37	5	156936311	156936311	+	Silent	SNP	G	G	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr5:156936311G>T	ENST00000517905.1	-	9	947	c.903C>A	c.(901-903)atC>atA	p.I301I	ADAM19_ENST00000430702.2_Silent_p.I34I|ADAM19_ENST00000394020.1_Silent_p.I303I|ADAM19_ENST00000257527.4_Silent_p.I301I			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	301	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.I302I(1)|p.I301I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTATTTACGTGATTAATTGGG	0.493																																						uc003lwz.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(901-903)ATC>ATA		ADAM metallopeptidase domain 19 preproprotein							104.0	99.0	101.0					5																	156936311		2203	4300	6503	SO:0001819	synonymous_variant	8728				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr5:156936311G>T	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.903C>A	5.37:g.156936311G>T						ADAM19_uc003lww.1_Silent_p.I34I|ADAM19_uc011ddr.1_Silent_p.I232I	p.I301I	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		9	967	-	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	301			Peptidase M12B.|Extracellular (Potential).		Q9BZL5|Q9UHP2	Silent	SNP	ENST00000517905.1	37	c.903C>A																																																																																					PASS	0.493	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		21	18	21	18	---	---	---	---
CDHR2	54825	broad.mit.edu	37	5	176011425	176011425	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr5:176011425G>A	ENST00000510636.1	+	19	2417	c.2143G>A	c.(2143-2145)Gtg>Atg	p.V715M	CDHR2_ENST00000261944.5_Missense_Mutation_p.V715M|CDHR2_ENST00000506348.1_Missense_Mutation_p.V715M	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	715	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V715M(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GCTAGTGGGCGTGGTGAAGGC	0.612																																						uc003mem.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2143-2145)GTG>ATG		protocadherin LKC precursor							83.0	88.0	86.0					5																	176011425		2203	4300	6503	SO:0001583	missense	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176011425G>A	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.2143G>A	5.37:g.176011425G>A	ENSP00000424565:p.Val715Met					CDHR2_uc003men.1_Missense_Mutation_p.V715M	p.V715M	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN			19	2209	+			715			Cadherin 7.|Extracellular (Potential).		A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	ENST00000510636.1	37	c.2143G>A	CCDS34297.1	.	.	.	.	.	.	.	.	.	.	G	2.521	-0.310650	0.05458	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.53206	0.63;0.63;0.63	5.12	-1.25	0.09405	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.28366	0.0701	L	0.35723	1.085	0.09310	N	1	P	0.37500	0.597	B	0.26969	0.075	T	0.09487	-1.0672	9	0.45353	T	0.12	-0.1982	6.3613	0.21431	0.4939:0.0:0.3871:0.119	.	715	Q9BYE9	CDHR2_HUMAN	M	715	ENSP00000424565:V715M;ENSP00000261944:V715M;ENSP00000421078:V715M	ENSP00000261944:V715M	V	+	1	0	CDHR2	175944031	0.000000	0.05858	0.024000	0.17045	0.007000	0.05969	0.071000	0.14594	-0.142000	0.11354	-0.275000	0.10095	GTG		PASS	0.612	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		66	60	66	60	---	---	---	---
SERPINB6	5269	broad.mit.edu	37	6	2954829	2954829	+	Nonsense_Mutation	SNP	C	C	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr6:2954829C>A	ENST00000380520.1	-	3	2421	c.427G>T	c.(427-429)Gaa>Taa	p.E143*	SERPINB6_ENST00000380546.3_Nonsense_Mutation_p.E143*|SERPINB6_ENST00000380529.1_Nonsense_Mutation_p.E143*|SERPINB6_ENST00000335686.5_Nonsense_Mutation_p.E143*|SERPINB6_ENST00000380524.1_Nonsense_Mutation_p.E143*|SERPINB6_ENST00000380539.1_Nonsense_Mutation_p.E143*			P35237	SPB6_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 6	143					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.E143*(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2)	17	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	TTTTCACCTTCTGTCTTTTCA	0.373																																						uc003muk.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(427-429)GAA>TAA		serine (or cysteine) proteinase inhibitor, clade	Drotrecogin alfa(DB00055)						172.0	162.0	165.0					6																	2954829		2203	4300	6503	SO:0001587	stop_gained	5269				regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity	g.chr6:2954829C>A	Z22658	CCDS4479.1, CCDS75386.1, CCDS75387.1	6p25.2	2014-02-18	2005-08-18		ENSG00000124570	ENSG00000124570		"""Serine (or cysteine) peptidase inhibitors"""	8950	protein-coding gene	gene with protein product	"""cytoplasmic antiproteinase"""	173321	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 6"", ""deafness, autosomal recessive 91"""	PI6, DFNB91		8415716, 9858835, 20451170, 24172014	Standard	NM_004568		Approved	PTI, CAP	uc031smo.1	P35237	OTTHUMG00000016170	ENST00000380520.1:c.427G>T	6.37:g.2954829C>A	ENSP00000369891:p.Glu143*					SERPINB6_uc003mui.2_Nonsense_Mutation_p.E26*|SERPINB6_uc003muj.2_RNA|SERPINB6_uc003mul.2_Nonsense_Mutation_p.E143*|SERPINB6_uc003mum.2_Nonsense_Mutation_p.E143*|SERPINB6_uc003mun.2_Nonsense_Mutation_p.E143*|SERPINB6_uc003muo.2_Nonsense_Mutation_p.E143*	p.E143*	NM_004568	NP_004559	P35237	SPB6_HUMAN			3	2422	-	Ovarian(93;0.0412)	all_hematologic(90;0.0895)	143					B2RBA8|Q59F97|Q5TD06|Q7Z2Y7|Q96J44|Q9UDI7	Nonsense_Mutation	SNP	ENST00000380520.1	37	c.427G>T	CCDS4479.1	.	.	.	.	.	.	.	.	.	.	C	39	7.456391	0.98296	.	.	ENSG00000124570	ENST00000380524;ENST00000380520;ENST00000335686;ENST00000380529;ENST00000380539;ENST00000380546	.	.	.	5.22	5.22	0.72569	.	0.242867	0.48767	D	0.000178	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	18.2123	0.89874	0.0:1.0:0.0:0.0	.	.	.	.	X	143	.	ENSP00000338358:E143X	E	-	1	0	SERPINB6	2899828	0.590000	0.26815	1.000000	0.80357	0.741000	0.42261	1.167000	0.31847	2.820000	0.97059	0.650000	0.86243	GAA		PASS	0.373	SERPINB6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043422.1			7	72	7	72	---	---	---	---
HIST1H3E	8353	broad.mit.edu	37	6	26225532	26225532	+	Silent	SNP	C	C	G			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr6:26225532C>G	ENST00000360408.1	+	1	150	c.150C>G	c.(148-150)cgC>cgG	p.R50R		NM_003532.2	NP_003523.1	P68431	H31_HUMAN	histone cluster 1, H3e	50					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.R50R(1)		endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				TGGCTCTGCGCGAGATCCGTC	0.632																																						uc003nhb.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(148-150)CGC>CGG		histone cluster 1, H3f							55.0	54.0	54.0					6																	26225532		2203	4300	6503	SO:0001819	synonymous_variant	8353				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26225532C>G	M60746	CCDS4596.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196966	ENSG00000274750		"""Histones / Replication-dependent"""	4769	protein-coding gene	gene with protein product		602813	"""H3 histone family, member D"", ""histone 1, H3e"""	H3FD		1916825, 12408966	Standard	NM_003532		Approved	H3/d, H3.1	uc003nhc.4	P68431	OTTHUMG00000014434	ENST00000360408.1:c.150C>G	6.37:g.26225532C>G						HIST1H3E_uc003nhc.3_Silent_p.R50R	p.R50R	NM_021018	NP_066298	P68431	H31_HUMAN			2	510	+		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)	50					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	ENST00000360408.1	37	c.150C>G	CCDS4596.1																																																																																				PASS	0.632	HIST1H3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040097.1	NM_003532		6	82	6	82	---	---	---	---
HSP90AB1	3326	broad.mit.edu	37	6	44216403	44216403	+	Missense_Mutation	SNP	G	G	C			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr6:44216403G>C	ENST00000371554.1	+	2	251	c.37G>C	c.(37-39)Gag>Cag	p.E13Q	HSP90AB1_ENST00000371646.5_Missense_Mutation_p.E13Q|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.E13Q			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	13					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)	p.E13Q(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGAGGAGGTGGAGACTTTTGC	0.408																																						uc003oxa.1																			1	Substitution - Missense(1)		lung(1)	lung(3)|breast(1)	4						c.(37-39)GAG>CAG		heat shock 90kDa protein 1, beta							135.0	132.0	133.0					6																	44216403		2203	4300	6503	SO:0001583	missense	3326				axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding	g.chr6:44216403G>C	AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"""Heat shock proteins / HSPC"""	5258	protein-coding gene	gene with protein product		140572	"""heat shock 90kD protein 1, beta"", ""heat shock 90kDa protein 1, beta"""	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.37G>C	6.37:g.44216403G>C	ENSP00000360609:p.Glu13Gln					HSP90AB1_uc011dvr.1_Missense_Mutation_p.E13Q|HSP90AB1_uc003oxb.1_Missense_Mutation_p.E13Q|HSP90AB1_uc011dvs.1_5'UTR|HSP90AB1_uc003oxc.1_5'Flank	p.E13Q	NM_007355	NP_031381	P08238	HS90B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		2	121	+	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		13					B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Missense_Mutation	SNP	ENST00000371554.1	37	c.37G>C	CCDS4909.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.290721	0.80914	.	.	ENSG00000096384	ENST00000441736;ENST00000371646;ENST00000353801;ENST00000371554	T;T;T	0.79352	-1.26;-1.26;-1.26	4.26	4.26	0.50523	Heat shock protein Hsp90, N-terminal (1);ATPase-like, ATP-binding domain (2);	0.153860	0.41396	U	0.000895	D	0.85579	0.5729	M	0.80508	2.5	0.80722	D	1	D;D	0.57899	0.981;0.981	D;D	0.65140	0.932;0.932	D	0.88306	0.2953	10	0.87932	D	0	-18.5961	17.0525	0.86523	0.0:0.0:1.0:0.0	.	13;13	B4DGL0;P08238	.;HS90B_HUMAN	Q	13	ENSP00000360709:E13Q;ENSP00000325875:E13Q;ENSP00000360609:E13Q	ENSP00000325875:E13Q	E	+	1	0	HSP90AB1	44324381	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.852000	0.99516	2.106000	0.64143	0.505000	0.49811	GAG		PASS	0.408	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1	NM_007355		7	149	7	149	---	---	---	---
OPN5	221391	broad.mit.edu	37	6	47763175	47763175	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr6:47763175C>A	ENST00000371211.2	+	4	660	c.632C>A	c.(631-633)cCa>cAa	p.P211Q	OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000393699.2_Missense_Mutation_p.P211Q|OPN5_ENST00000489301.2_Missense_Mutation_p.P211Q	NM_181744.3	NP_859528.1	Q6U736	OPN5_HUMAN	opsin 5	211					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)	p.P211Q(1)		endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						CTCTTGCTCCCAACGGCTGTG	0.542																																					Melanoma(28;740 973 10870 42660 45347)	uc003ozc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(631-633)CCA>CAA		opsin 5 isoform 1							118.0	104.0	108.0					6																	47763175		2203	4300	6503	SO:0001583	missense	221391				phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr6:47763175C>A	AY288419	CCDS4923.1	6p12.3	2012-08-08	2004-01-23		ENSG00000124818	ENSG00000124818		"""GPCR / Class A : Opsin receptors"""	19992	protein-coding gene	gene with protein product	"""neuropsin"""	609042	"""transmembrane protein 13"""	TMEM13		14623103, 14623098	Standard	NR_033806		Approved	neuropsin, dJ402H5.1	uc003ozc.3	Q6U736	OTTHUMG00000014803	ENST00000371211.2:c.632C>A	6.37:g.47763175C>A	ENSP00000360255:p.Pro211Gln					OPN5_uc003ozd.2_Missense_Mutation_p.P46Q	p.P211Q	NM_181744	NP_859528	Q6U736	OPN5_HUMAN			4	637	+			211			Helical; Name=5; (Potential).		A0AV33|Q5T5B9|Q5T886|Q7Z603|Q86SL5	Missense_Mutation	SNP	ENST00000371211.2	37	c.632C>A	CCDS4923.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.841464	0.91197	.	.	ENSG00000124818	ENST00000489301;ENST00000371211;ENST00000393699	T;T;T	0.57107	0.42;0.42;0.42	5.91	5.91	0.95273	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.78342	0.4268	M	0.92317	3.295	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.82462	-0.0445	10	0.87932	D	0	.	20.2857	0.98533	0.0:1.0:0.0:0.0	.	211	Q6U736	OPN5_HUMAN	Q	211	ENSP00000426991:P211Q;ENSP00000360255:P211Q;ENSP00000377302:P211Q	ENSP00000360255:P211Q	P	+	2	0	OPN5	47871134	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.803000	0.96430	0.650000	0.86243	CCA		PASS	0.542	OPN5-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359451.1	NM_181744		42	108	42	108	---	---	---	---
RIMS1	22999	broad.mit.edu	37	6	72967967	72967967	+	Silent	SNP	A	A	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr6:72967967A>T	ENST00000521978.1	+	17	2910	c.2910A>T	c.(2908-2910)ccA>ccT	p.P970P	RIMS1_ENST00000517960.1_Silent_p.P969P|RIMS1_ENST00000518273.1_Silent_p.P970P|RIMS1_ENST00000348717.5_Silent_p.P969P|RIMS1_ENST00000425662.2_Silent_p.P363P|RIMS1_ENST00000401910.3_Silent_p.P443P|RIMS1_ENST00000522291.1_Silent_p.P969P|RIMS1_ENST00000264839.7_Silent_p.P970P|RIMS1_ENST00000523963.1_Silent_p.P444P|RIMS1_ENST00000520567.1_Silent_p.P969P|RIMS1_ENST00000517827.1_Silent_p.P429P|RIMS1_ENST00000538414.1_5'UTR|RIMS1_ENST00000491071.2_Silent_p.P970P	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	970					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)	p.P970P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CACGTTTACCAAATGTGCCAT	0.433																																						uc003pga.2																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|pancreas(2)|breast(1)	10						c.(2908-2910)CCA>CCT		regulating synaptic membrane exocytosis 1							74.0	69.0	71.0					6																	72967967		1934	4138	6072	SO:0001819	synonymous_variant	22999				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:72967967A>T	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.2910A>T	6.37:g.72967967A>T						RIMS1_uc011dyb.1_Silent_p.P595P|RIMS1_uc003pgc.2_Silent_p.P596P|RIMS1_uc010kaq.2_Silent_p.P443P|RIMS1_uc011dyc.1_Silent_p.P444P|RIMS1_uc010kar.2_Silent_p.P363P|RIMS1_uc011dyd.1_Silent_p.P429P|RIMS1_uc003pgf.2_Silent_p.P186P|RIMS1_uc003pgg.2_Silent_p.P187P|RIMS1_uc003pgi.2_Silent_p.P186P|RIMS1_uc003pgh.2_Silent_p.P186P|RIMS1_uc003pgd.2_Silent_p.P187P|RIMS1_uc003pge.2_Silent_p.P187P|RIMS1_uc011dye.1_5'UTR|RIMS1_uc011dyf.1_5'Flank|RIMS1_uc003pgb.3_Silent_p.P596P|RIMS1_uc010kas.1_Silent_p.P429P	p.P970P	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN			17	2987	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	970					A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Silent	SNP	ENST00000521978.1	37	c.2910A>T	CCDS47449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.03|10.03	1.238870|1.238870	0.22711|0.22711	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000517433|ENST00000522211	.|.	.|.	.|.	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	.|.	.|.	.|.	.|.	.|T	.|0.63070	.|0.2480	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.63963	.|-0.6518	.|4	.|.	.|.	.|.	-14.4496|-14.4496	15.0624|15.0624	0.71964|0.71964	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	544|61	.|.	.|.	K|Q	+|+	1|2	0|0	RIMS1|RIMS1	73024688|73024688	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	3.901000|3.901000	0.56303|0.56303	1.971000|1.971000	0.57363|0.57363	0.477000|0.477000	0.44152|0.44152	AAA|CAA		PASS	0.433	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			17	47	17	47	---	---	---	---
LAMA2	3908	broad.mit.edu	37	6	129609117	129609117	+	Missense_Mutation	SNP	T	T	C			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr6:129609117T>C	ENST00000421865.2	+	19	2712	c.2663T>C	c.(2662-2664)aTa>aCa	p.I888T		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	888	Laminin EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.I888T(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TCCTGTCTGATATGTAAACCA	0.502																																						uc003qbn.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(1)|skin(1)	10						c.(2662-2664)ATA>ACA		laminin alpha 2 subunit isoform a precursor							282.0	235.0	251.0					6																	129609117		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129609117T>C	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.2663T>C	6.37:g.129609117T>C	ENSP00000400365:p.Ile888Thr					LAMA2_uc003qbo.2_Missense_Mutation_p.I888T	p.I888T	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	19	2768	+			888			Laminin EGF-like 8.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.2663T>C	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	T	15.29	2.788358	0.49997	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.62232	0.04	5.93	5.93	0.95920	EGF-like, laminin (4);	0.162190	0.41938	D	0.000794	T	0.36744	0.0978	N	0.03983	-0.305	0.38034	D	0.935264	D;D	0.54601	0.96;0.967	P;P	0.54270	0.747;0.613	T	0.50171	-0.8859	10	0.33141	T	0.24	.	11.4643	0.50230	0.1342:0.0:0.0:0.8658	.	888;888	A6NF00;P24043	.;LAMA2_HUMAN	T	888	ENSP00000400365:I888T	ENSP00000346769:I888T	I	+	2	0	LAMA2	129650810	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.543000	0.53633	2.258000	0.74832	0.533000	0.62120	ATA		PASS	0.502	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			84	209	84	209	---	---	---	---
LAMA2	3908	broad.mit.edu	37	6	129833550	129833550	+	Missense_Mutation	SNP	A	A	C			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr6:129833550A>C	ENST00000421865.2	+	63	8949	c.8900A>C	c.(8899-8901)gAa>gCa	p.E2967A		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2967	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.E2967A(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GTAGAATTTGAATTCCGCACA	0.368																																						uc003qbn.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(1)|skin(1)	10						c.(8899-8901)GAA>GCA		laminin alpha 2 subunit isoform a precursor							142.0	139.0	140.0					6																	129833550		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129833550A>C	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.8900A>C	6.37:g.129833550A>C	ENSP00000400365:p.Glu2967Ala					LAMA2_uc003qbo.2_Missense_Mutation_p.E2963A|uc003qbq.2_Intron	p.E2967A	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	62	9005	+			2967			Laminin G-like 5.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.8900A>C	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.300591	0.81136	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.43688	0.94	5.73	5.73	0.89815	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	0.047570	0.85682	D	0.000000	T	0.54271	0.1848	M	0.82823	2.61	0.58432	D	0.999998	D;D	0.54601	0.967;0.967	P;P	0.56278	0.795;0.795	T	0.60250	-0.7300	9	.	.	.	.	16.0329	0.80593	1.0:0.0:0.0:0.0	.	2968;2967	A6NF00;P24043	.;LAMA2_HUMAN	A	2967;2966;2967;985	ENSP00000400365:E2967A	.	E	+	2	0	LAMA2	129875243	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	8.117000	0.89575	2.197000	0.70478	0.533000	0.62120	GAA		PASS	0.368	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			5	91	5	91	---	---	---	---
SASH1	23328	broad.mit.edu	37	6	148855979	148855979	+	Silent	SNP	G	G	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr6:148855979G>A	ENST00000367467.3	+	16	2512	c.2037G>A	c.(2035-2037)agG>agA	p.R679R		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	679	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)	p.R679R(1)		breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		TAAATATCAGGGACCCGGAAC	0.483																																						uc003qme.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(2035-2037)AGG>AGA		SAM and SH3 domain containing 1							118.0	113.0	115.0					6																	148855979		2203	4300	6503	SO:0001819	synonymous_variant	23328						protein binding	g.chr6:148855979G>A	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.2037G>A	6.37:g.148855979G>A						SASH1_uc011eeb.1_Silent_p.R440R|SASH1_uc003qmf.1_Silent_p.R89R	p.R679R	NM_015278	NP_056093	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	16	2512	+		Ovarian(120;0.0169)	679			SAM 1.		Q5TGN5|Q8TAI0|Q9H7R7	Silent	SNP	ENST00000367467.3	37	c.2037G>A	CCDS5212.1																																																																																				PASS	0.483	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		7	75	7	75	---	---	---	---
OPRM1	4988	broad.mit.edu	37	6	154360850	154360850	+	Missense_Mutation	SNP	C	C	G			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr6:154360850C>G	ENST00000330432.7	+	1	408	c.171C>G	c.(169-171)agC>agG	p.S57R	OPRM1_ENST00000434900.2_Missense_Mutation_p.S150R|OPRM1_ENST00000337049.4_Missense_Mutation_p.S57R|OPRM1_ENST00000518759.1_Intron|OPRM1_ENST00000452687.2_Missense_Mutation_p.S57R|OPRM1_ENST00000524163.1_Missense_Mutation_p.S57R|OPRM1_ENST00000419506.2_Missense_Mutation_p.S57R|OPRM1_ENST00000520708.1_Intron|OPRM1_ENST00000523520.1_3'UTR|OPRM1_ENST00000360422.4_Missense_Mutation_p.S57R|OPRM1_ENST00000229768.5_Missense_Mutation_p.S57R|OPRM1_ENST00000435918.2_Missense_Mutation_p.S57R|OPRM1_ENST00000414028.2_Missense_Mutation_p.S57R|OPRM1_ENST00000428397.2_Missense_Mutation_p.S57R	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1	57					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)	p.S57R(2)|p.S150R(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	GGAGAGACAGCCTGTGCCCTC	0.637																																						uc003qpr.2																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(169-171)AGC>AGG		opioid receptor, mu 1 isoform MOR-1	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)						66.0	70.0	69.0					6																	154360850		2008	4170	6178	SO:0001583	missense	4988				behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	g.chr6:154360850C>G	L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"""GPCR / Class A : Opioid receptors"""	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.171C>G	6.37:g.154360850C>G	ENSP00000328264:p.Ser57Arg					OPRM1_uc011efb.1_Missense_Mutation_p.S105R|OPRM1_uc011efc.1_Intron|OPRM1_uc011efd.1_Intron|OPRM1_uc011efe.1_Missense_Mutation_p.S150R|OPRM1_uc003qpn.2_Missense_Mutation_p.S57R|OPRM1_uc003qpo.1_Missense_Mutation_p.S57R|OPRM1_uc011eff.1_Missense_Mutation_p.S57R|OPRM1_uc011efg.1_Missense_Mutation_p.S57R|OPRM1_uc011efh.1_Missense_Mutation_p.S57R|OPRM1_uc003qpq.1_Missense_Mutation_p.S57R|OPRM1_uc003qpt.1_Missense_Mutation_p.S57R|OPRM1_uc011efi.1_Missense_Mutation_p.S57R|OPRM1_uc003qpp.2_RNA|OPRM1_uc003qps.2_RNA	p.S57R	NM_000914	NP_000905	P35372	OPRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	1	408	+		Ovarian(120;0.196)	57			Extracellular (Potential).		B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Missense_Mutation	SNP	ENST00000330432.7	37	c.171C>G	CCDS55070.1	.	.	.	.	.	.	.	.	.	.	C	9.236	1.036949	0.19669	.	.	ENSG00000112038	ENST00000520282;ENST00000434900;ENST00000330432;ENST00000360422;ENST00000428397;ENST00000452687;ENST00000229768;ENST00000419506;ENST00000524163;ENST00000414028;ENST00000435918;ENST00000337049	T;T;T;T;T;T;T;T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15;2.15;2.15;2.15;2.15;2.15;2.15;2.15	5.23	2.31	0.28768	.	0.792557	0.12313	N	0.479996	T	0.02727	0.0082	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B;B;B;B;B;B	0.11235	0.001;0.0;0.0;0.0;0.004;0.0;0.0;0.0;0.002;0.002;0.0	B;B;B;B;B;B;B;B;B;B;B	0.15052	0.002;0.003;0.001;0.004;0.012;0.002;0.003;0.0;0.008;0.008;0.001	T	0.40961	-0.9535	10	0.42905	T	0.14	.	2.4069	0.04414	0.1662:0.5223:0.1615:0.15	.	57;57;57;57;150;57;57;57;57;57;57	P35372-4;P35372-8;P35372-11;P35372-9;P35372-10;P35372-6;P35372-5;P35372;P35372-7;P35372-3;P35372-2	.;.;.;.;.;.;.;OPRM_HUMAN;.;.;.	R	105;150;57;57;57;57;57;57;57;57;57;57	ENSP00000430247:S105R;ENSP00000394624:S150R;ENSP00000328264:S57R;ENSP00000353598:S57R;ENSP00000411903:S57R;ENSP00000410497:S57R;ENSP00000229768:S57R;ENSP00000403549:S57R;ENSP00000430097:S57R;ENSP00000399359:S57R;ENSP00000413752:S57R;ENSP00000338381:S57R	ENSP00000229768:S57R	S	+	3	2	OPRM1	154402543	0.017000	0.18338	0.927000	0.36925	0.524000	0.34500	0.092000	0.15066	0.722000	0.32252	0.585000	0.79938	AGC		PASS	0.637	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042786.2	NM_000914		31	30	31	30	---	---	---	---
SLC22A1	6580	broad.mit.edu	37	6	160553345	160553345	+	Nonsense_Mutation	SNP	C	C	G	rs151091788	byFrequency	TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr6:160553345C>G	ENST00000366963.4	+	3	744	c.597C>G	c.(595-597)taC>taG	p.Y199*	SLC22A1_ENST00000457470.2_Nonsense_Mutation_p.Y199*|SLC22A1_ENST00000324965.4_Nonsense_Mutation_p.Y199*	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1	199					dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|epinephrine transport (GO:0048241)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|norepinephrine transport (GO:0015874)|organic cation transport (GO:0015695)|protein homooligomerization (GO:0051260)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)|dopamine transmembrane transporter activity (GO:0005329)|norepinephrine transmembrane transporter activity (GO:0005333)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)	p.Y199*(1)	SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	Acebutolol(DB01193)|Acepromazine(DB01614)|Aciclovir(DB00787)|Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Caspofungin(DB00520)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Choline(DB00122)|Cimetidine(DB00501)|Cladribine(DB00242)|Clonidine(DB00575)|Codeine(DB00318)|Cytarabine(DB00987)|Desipramine(DB01151)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Estropipate(DB04574)|Ganciclovir(DB01004)|Gentian Violet(DB00406)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Lamivudine(DB00709)|Latanoprost(DB00654)|Metformin(DB00331)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rocuronium(DB00728)|Saquinavir(DB01232)|Spermine(DB00127)|Testosterone(DB00624)|Thiamine(DB00152)|Thioproperazine(DB01622)|Thiothixene(DB01623)|Tubocurarine(DB01199)|Vecuronium(DB01339)|Verapamil(DB00661)	CGCCCAACTACATGTCCATGC	0.577																																						uc003qtc.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(595-597)TAC>TAG		solute carrier family 22 member 1 isoform a							193.0	159.0	170.0					6																	160553345		2203	4300	6503	SO:0001587	stop_gained	6580					basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding	g.chr6:160553345C>G	U77086	CCDS5274.1, CCDS5275.1	6q25.3	2013-05-22			ENSG00000175003	ENSG00000175003		"""Solute carriers"""	10963	protein-coding gene	gene with protein product		602607				9605850	Standard	NM_003057		Approved	OCT1	uc003qtc.3	O15245	OTTHUMG00000015947	ENST00000366963.4:c.597C>G	6.37:g.160553345C>G	ENSP00000355930:p.Tyr199*					SLC22A1_uc003qtd.2_Nonsense_Mutation_p.Y199*	p.Y199*	NM_003057	NP_003048	O15245	S22A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	3	702	+		Breast(66;0.000776)|Ovarian(120;0.00556)	199			Extracellular (Potential).		A6NFF3|A8K1H2|C9JSU6|O15395|Q9NQD4	Nonsense_Mutation	SNP	ENST00000366963.4	37	c.597C>G	CCDS5274.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.979228	0.34942	.	.	ENSG00000175003	ENST00000366963;ENST00000324965;ENST00000457470;ENST00000540443	.	.	.	4.34	2.07	0.26955	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.62	0.45474	0.0:0.8034:0.0:0.1966	.	.	.	.	X	199;199;199;7	.	ENSP00000318103:Y199X	Y	+	3	2	SLC22A1	160473335	0.473000	0.25878	0.003000	0.11579	0.001000	0.01503	1.127000	0.31357	0.780000	0.33566	0.563000	0.77884	TAC		PASS	0.577	SLC22A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042938.2			5	118	5	118	---	---	---	---
PACRG	135138	broad.mit.edu	37	6	163483206	163483206	+	Missense_Mutation	SNP	C	C	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr6:163483206C>T	ENST00000337019.3	+	4	540	c.316C>T	c.(316-318)Cat>Tat	p.H106Y	PACRG_ENST00000366888.2_Missense_Mutation_p.H106Y|PACRG_ENST00000366889.2_Missense_Mutation_p.H106Y	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	106					spermatid development (GO:0007286)	cell body (GO:0044297)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm midpiece (GO:0097225)		p.H106Y(1)		endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		GCTGGATTACCATCATTATCT	0.453																																						uc003qua.2																			1	Substitution - Missense(1)		lung(1)		0						c.(316-318)CAT>TAT		parkin co-regulated gene protein isoform 1							106.0	108.0	107.0					6																	163483206		2203	4300	6503	SO:0001583	missense	135138							g.chr6:163483206C>T	AK057286	CCDS5284.1, CCDS43524.1	6q26	2004-07-01			ENSG00000112530	ENSG00000112530			19152	protein-coding gene	gene with protein product		608427				12547187	Standard	NM_001080378		Approved	PARK2CRG, FLJ32724, Glup, HAK005771	uc003qua.3	Q96M98	OTTHUMG00000016116	ENST00000337019.3:c.316C>T	6.37:g.163483206C>T	ENSP00000337946:p.His106Tyr					PACRG_uc003qub.2_Missense_Mutation_p.H106Y|PACRG_uc003quc.2_Missense_Mutation_p.H106Y	p.H106Y	NM_152410	NP_689623	Q96M98	PACRG_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)	4	540	+		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)	106					E1P5B5|Q6IMB8|Q8IZM1|Q8NHP5|Q9H1V9	Missense_Mutation	SNP	ENST00000337019.3	37	c.316C>T	CCDS5284.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.59|19.59	3.855521|3.855521	0.71719|0.71719	.|.	.|.	ENSG00000112530|ENSG00000112530	ENST00000337019;ENST00000366889;ENST00000366888|ENST00000534958	T|.	0.67171|.	-0.25|.	4.85|4.85	3.98|3.98	0.46160|0.46160	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77935|0.77935	0.4205|0.4205	M|M	0.88640|0.88640	2.97|2.97	0.49051|0.49051	D|D	0.999742|0.999742	D;D|.	0.89917|.	0.997;1.0|.	D;D|.	0.81914|.	0.935;0.995|.	T|T	0.82489|0.82489	-0.0432|-0.0432	10|5	0.62326|.	D|.	0.03|.	-10.5051|-10.5051	15.4513|15.4513	0.75277|0.75277	0.0:0.8607:0.1393:0.0|0.0:0.8607:0.1393:0.0	.|.	106;106|.	Q96M98-2;Q96M98|.	.;PACRG_HUMAN|.	Y|L	106|21	ENSP00000337946:H106Y|.	ENSP00000337946:H106Y|.	H|P	+|+	1|2	0|0	PACRG|PACRG	163403196|163403196	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.016000|3.016000	0.49607|0.49607	1.147000|1.147000	0.42369|0.42369	0.609000|0.609000	0.83330|0.83330	CAT|CCA		PASS	0.453	PACRG-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400424.1	NM_152410		26	64	26	64	---	---	---	---
WDR27	253769	broad.mit.edu	37	6	170068228	170068228	+	Missense_Mutation	SNP	T	T	G			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr6:170068228T>G	ENST00000448612.1	-	5	619	c.510A>C	c.(508-510)aaA>aaC	p.K170N	WDR27_ENST00000423258.1_Intron|WDR27_ENST00000333572.6_Missense_Mutation_p.K170N|WDR27_ENST00000546525.1_5'Flank|WDR27_ENST00000420344.2_Intron	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27	152						nucleus (GO:0005634)		p.K170N(3)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		GTGGTGGGACTTTGTGGCGGT	0.507																																						uc003qwx.2																			3	Substitution - Missense(3)		lung(3)	pancreas(1)	1						c.(508-510)AAA>AAC		RecName: Full=WD repeat-containing protein 27;							103.0	127.0	119.0					6																	170068228		2045	4188	6233	SO:0001583	missense	253769							g.chr6:170068228T>G	AK131435	CCDS47520.1, CCDS47520.2, CCDS56459.1	6q27	2013-01-09	2003-06-18		ENSG00000184465	ENSG00000184465		"""WD repeat domain containing"""	21248	protein-coding gene	gene with protein product							Standard	NM_182552		Approved	MGC43690	uc003qwx.3	A2RRH5	OTTHUMG00000016061	ENST00000448612.1:c.510A>C	6.37:g.170068228T>G	ENSP00000416289:p.Lys170Asn					WDR27_uc010kkw.1_Missense_Mutation_p.K170N|WDR27_uc003qwy.2_Intron|WDR27_uc011egw.1_Intron	p.K170N			A2RRH5	WDR27_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)	5	1030	-		Breast(66;1.53e-05)|Ovarian(120;0.216)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A5PLM8|C9JGV0|Q5T066	Missense_Mutation	SNP	ENST00000448612.1	37	c.510A>C	CCDS47520.2	.	.	.	.	.	.	.	.	.	.	T	11.08	1.533344	0.27387	.	.	ENSG00000184465	ENST00000448612;ENST00000333572	T;T	0.22945	1.93;2.18	4.53	-4.59	0.03400	.	.	.	.	.	T	0.02304	0.0071	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.43750	-0.9372	9	0.13853	T	0.58	.	3.1558	0.06504	0.1164:0.1054:0.429:0.3493	.	170;170	F2Z2U5;C9JGV0	.;.	N	170	ENSP00000416289:K170N;ENSP00000330265:K170N	ENSP00000330265:K170N	K	-	3	2	WDR27	169810153	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.270000	0.18607	-0.411000	0.07530	0.533000	0.62120	AAA		PASS	0.507	WDR27-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407334.1	NM_182552		32	43	32	43	---	---	---	---
SDK1	221935	broad.mit.edu	37	7	3991545	3991545	+	Missense_Mutation	SNP	C	C	G			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr7:3991545C>G	ENST00000404826.2	+	7	1282	c.1143C>G	c.(1141-1143)ttC>ttG	p.F381L	SDK1_ENST00000389531.3_Missense_Mutation_p.F381L	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	381					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.F381L(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCTTTCTTTTCATCATAGGTA	0.577																																						uc003smx.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(3)|ovary(2)|skin(1)	6						c.(1141-1143)TTC>TTG		sidekick 1 precursor							20.0	24.0	23.0					7																	3991545		2203	4298	6501	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:3991545C>G	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.1143C>G	7.37:g.3991545C>G	ENSP00000385899:p.Phe381Leu						p.F381L	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	7	1282	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	381					Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.1143C>G	CCDS34590.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.603|9.603	1.129222|1.129222	0.21041|0.21041	.|.	.|.	ENSG00000146555|ENSG00000146555	ENST00000404826;ENST00000389531|ENST00000426596	T;T|.	0.26223|.	1.75;1.75|.	4.87|4.87	-5.07|-5.07	0.02938|0.02938	Immunoglobulin-like fold (1);|.	0.079373|.	0.51477|.	D|.	0.000090|.	T|.	0.24005|.	0.0581|.	N|N	0.04203|0.04203	-0.255|-0.255	0.80722|0.80722	D|D	1|1	B|.	0.06786|.	0.001|.	B|.	0.01281|.	0.0|.	T|.	0.10613|.	-1.0622|.	10|.	0.25751|.	T|.	0.34|.	.|.	7.6974|7.6974	0.28602|0.28602	0.0:0.2189:0.2151:0.566|0.0:0.2189:0.2151:0.566	.|.	381|.	Q7Z5N4|.	SDK1_HUMAN|.	L|X	381|100	ENSP00000385899:F381L;ENSP00000374182:F381L|.	ENSP00000374182:F381L|.	F|S	+|+	3|2	2|0	SDK1|SDK1	3958071|3958071	0.309000|0.309000	0.24518|0.24518	0.342000|0.342000	0.25602|0.25602	0.297000|0.297000	0.27493|0.27493	-0.550000|-0.550000	0.06034|0.06034	-1.103000|-1.103000	0.03019|0.03019	-0.136000|-0.136000	0.14681|0.14681	TTC|TCA		PASS	0.577	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		27	42	27	42	---	---	---	---
ZNF479	90827	broad.mit.edu	37	7	57200012	57200012	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr7:57200012G>T	ENST00000331162.4	-	2	290	c.20C>A	c.(19-21)cCc>cAc	p.P7H		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	7					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.P7H(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			GCTTCCAGGGGGTCCTGGTCT	0.557																																						uc010kzo.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(19-21)CCC>CAC		zinc finger protein 479							57.0	57.0	57.0					7																	57200012		2042	4222	6264	SO:0001583	missense	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57200012G>T	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.20C>A	7.37:g.57200012G>T	ENSP00000333776:p.Pro7His						p.P7H	NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		2	291	-			7						Missense_Mutation	SNP	ENST00000331162.4	37	c.20C>A	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	g	8.717	0.913512	0.17907	.	.	ENSG00000185177	ENST00000331162	T	0.06449	3.3	0.109	0.109	0.14578	.	.	.	.	.	T	0.08758	0.0217	L	0.32530	0.975	0.09310	N	1	D	0.69078	0.997	P	0.53912	0.737	T	0.31420	-0.9944	8	0.52906	T	0.07	.	.	.	.	.	7	Q96JC4	ZN479_HUMAN	H	7	ENSP00000333776:P7H	ENSP00000333776:P7H	P	-	2	0	ZNF479	57203954	0.004000	0.15560	0.083000	0.20561	0.084000	0.17831	-0.942000	0.03921	0.181000	0.19994	0.184000	0.17185	CCC		PASS	0.557	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		21	59	21	59	---	---	---	---
PEX1	5189	broad.mit.edu	37	7	92146842	92146842	+	Silent	SNP	A	A	C			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr7:92146842A>C	ENST00000248633.4	-	5	1082	c.987T>G	c.(985-987)acT>acG	p.T329T	PEX1_ENST00000438045.1_Intron|PEX1_ENST00000428214.1_Silent_p.T329T|PEX1_ENST00000541751.1_5'Flank	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	329					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)	p.T329T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CATATGTCACAGTAAAGCTGG	0.378																																						uc003uly.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(985-987)ACT>ACG		peroxin1							59.0	58.0	58.0					7																	92146842		2203	4300	6503	SO:0001819	synonymous_variant	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92146842A>C	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.987T>G	7.37:g.92146842A>C						PEX1_uc011khr.1_Silent_p.T121T|PEX1_uc010ley.2_Silent_p.T329T|PEX1_uc011khs.1_Intron|PEX1_uc011kht.1_RNA	p.T329T	NM_000466	NP_000457	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		5	1083	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	329					A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Silent	SNP	ENST00000248633.4	37	c.987T>G	CCDS5627.1																																																																																				PASS	0.378	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		10	59	10	59	---	---	---	---
GAL3ST4	79690	broad.mit.edu	37	7	99757893	99757893	+	Silent	SNP	G	G	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr7:99757893G>A	ENST00000360039.4	-	4	1511	c.1119C>T	c.(1117-1119)ttC>ttT	p.F373F	C7orf43_ENST00000419841.1_5'Flank|GAL3ST4_ENST00000426974.2_Silent_p.F311F|GAL3ST4_ENST00000413800.1_Silent_p.F373F|C7orf43_ENST00000457641.1_5'Flank|C7orf43_ENST00000316937.3_5'Flank|GAL3ST4_ENST00000411994.1_3'UTR|GAL3ST4_ENST00000423751.1_3'UTR	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	373					cell-cell signaling (GO:0007267)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)	p.F373F(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GACTGCGGTTGAAGTGGACAT	0.627																																						uc003utt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1117-1119)TTC>TTT		galactose-3-O-sulfotransferase 4							56.0	60.0	58.0					7																	99757893		2203	4300	6503	SO:0001819	synonymous_variant	79690				cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	g.chr7:99757893G>A	AF316113	CCDS5688.1	7q22.1	2007-04-02			ENSG00000197093	ENSG00000197093		"""Sulfotransferases, membrane-bound"""	24145	protein-coding gene	gene with protein product		608235				11333265	Standard	NM_024637		Approved	FLJ12116	uc003utu.3	Q96RP7	OTTHUMG00000154885	ENST00000360039.4:c.1119C>T	7.37:g.99757893G>A						C7orf43_uc011kjj.1_5'Flank|C7orf43_uc003utr.2_5'Flank|C7orf43_uc003uts.2_5'Flank|GAL3ST4_uc003utu.2_Silent_p.F373F|GAL3ST4_uc010lgq.2_Silent_p.F311F	p.F373F	NM_024637	NP_078913	Q96RP7	G3ST4_HUMAN			3	2136	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		373			Lumenal (Potential).		A4D2A8|B4DWL8|D6W5U5|Q8N3P7|Q8WZ17|Q96E33|Q9HA78	Silent	SNP	ENST00000360039.4	37	c.1119C>T	CCDS5688.1																																																																																				PASS	0.627	GAL3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337495.2	NM_024637		5	131	5	131	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100696357	100696357	+	Silent	SNP	G	G	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr7:100696357G>T	ENST00000306151.4	+	10	13258	c.13194G>T	c.(13192-13194)ggG>ggT	p.G4398G		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4398					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.G4398G(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TGGGGGCAGGGGTCGTGCTGA	0.597																																						uc003uxp.1																			1	Substitution - coding silent(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(13192-13194)GGG>GGT		mucin 17 precursor							98.0	82.0	87.0					7																	100696357		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100696357G>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.13194G>T	7.37:g.100696357G>T						MUC17_uc010lho.1_RNA	p.G4398G	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			10	13247	+	Lung NSC(181;0.136)|all_lung(186;0.182)		4398			Helical; (Potential).		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.13194G>T	CCDS34711.1																																																																																				PASS	0.597	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		10	55	10	55	---	---	---	---
ORC5	5001	broad.mit.edu	37	7	103824482	103824482	+	Splice_Site	SNP	C	C	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr7:103824482C>A	ENST00000297431.4	-	8	876		c.e8-1		ORC5_ENST00000447452.2_Splice_Site|ORC5_ENST00000545943.1_Splice_Site	NM_002553.3	NP_002544.1	O43913	ORC5_HUMAN	origin recognition complex, subunit 5						DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)	ATP binding (GO:0005524)|DNA replication origin binding (GO:0003688)|nucleotide binding (GO:0000166)	p.?(2)		kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						CGTTCACTTGCTACCCCAAAG	0.318																																						uc003vcb.2																			2	Unknown(2)		lung(2)		0						c.e8-1		origin recognition complex subunit 5 isoform 1							110.0	117.0	115.0					7																	103824482		2203	4300	6503	SO:0001630	splice_region_variant	5001				cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	cytoplasm|nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|identical protein binding	g.chr7:103824482C>A		CCDS5734.1, CCDS47681.1	7q22.1	2014-06-13	2010-10-12	2010-10-12	ENSG00000164815	ENSG00000164815			8491	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 117"""	602331	"""origin recognition complex, subunit 5 (yeast homolog)-like"", ""origin recognition complex, subunit 5-like (yeast)"", ""origin recognition complex, subunit 5 homolog (yeast)"""	ORC5L		9417919, 9829972	Standard	NM_002553		Approved	Orc5p, ORC5T, PPP1R117	uc003vcb.3	O43913	OTTHUMG00000157275	ENST00000297431.4:c.734-1G>T	7.37:g.103824482C>A						ORC5L_uc011klp.1_Splice_Site_p.A113_splice|ORC5L_uc003vcc.2_Splice_Site_p.A245_splice	p.A245_splice	NM_002553	NP_002544	O43913	ORC5_HUMAN			8	845	-								A4D0P8|O60590|O95268	Splice_Site	SNP	ENST00000297431.4	37	c.734_splice	CCDS5734.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.686325	0.68157	.	.	ENSG00000164815	ENST00000297431;ENST00000545943;ENST00000447452	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8604	0.96781	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ORC5	103611718	1.000000	0.71417	1.000000	0.80357	0.723000	0.41478	5.093000	0.64517	2.699000	0.92147	0.650000	0.86243	.		PASS	0.318	ORC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348286.1	NM_002553	Intron	5	108	5	108	---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149515170	149515170	+	RNA	SNP	C	C	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr7:149515170C>T	ENST00000378016.2	+	0	11560							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGCCGTGGGCCCCGCCAGGA	0.697																																						uc010lpk.2																			0					0						c.(11560-11562)CCC>TCC		SCO-spondin precursor							9.0	12.0	11.0					7																	149515170		1985	4129	6114			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149515170C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149515170C>T							p.P3854S	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		81	11560	+	Melanoma(164;0.165)|Ovarian(565;0.177)		3854			TSP type-1 16.		Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37	c.11560C>T																																																																																					PASS	0.697	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				9	12	9	12	---	---	---	---
ATG9B	285973	broad.mit.edu	37	7	150720201	150720201	+	Missense_Mutation	SNP	C	C	G			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr7:150720201C>G	ENST00000377974.2	-	4	827	c.752G>C	c.(751-753)aGa>aCa	p.R251T	ATG9B_ENST00000444312.1_5'UTR|ATG9B_ENST00000605938.1_Missense_Mutation_p.R251T|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000605952.1_Missense_Mutation_p.R251T			Q674R7	ATG9B_HUMAN	autophagy related 9B	251					autophagic vacuole assembly (GO:0000045)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)		p.R251T(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGGCCCAGGTCTGGTATGGTT	0.527																																						uc011kvc.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(751-753)AGA>ACA		ATG9 autophagy related 9 homolog B							248.0	251.0	250.0					7																	150720201		2001	4181	6182	SO:0001583	missense	285973				autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane		g.chr7:150720201C>G	AK027791		7q36	2014-02-12	2012-06-06	2005-09-11	ENSG00000181652	ENSG00000181652			21899	protein-coding gene	gene with protein product		612205	"""nitric oxide synthase 3 antisense"", ""ATG9 autophagy related 9 homolog B (S. cerevisiae)"""	NOS3AS		15234981, 15755735	Standard	NM_173681		Approved	FLJ14885, APG9L2, SONE	uc011kvc.2	Q674R7	OTTHUMG00000158634	ENST00000377974.2:c.752G>C	7.37:g.150720201C>G	ENSP00000475005:p.Arg251Thr					ATG9B_uc003wig.3_RNA	p.R251T	NM_173681	NP_775952	Q674R7	ATG9B_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	4	828	-	all_neural(206;0.219)		251			Lumenal (By similarity).		A1A5D3|Q6JRW5|Q8N8I8	Missense_Mutation	SNP	ENST00000377974.2	37	c.752G>C		.	.	.	.	.	.	.	.	.	.	C	8.678	0.904536	0.17760	.	.	ENSG00000248602	ENST00000377974;ENST00000397266;ENST00000545613	.	.	.	5.42	2.52	0.30459	.	0.302943	0.35805	N	0.002964	T	0.25901	0.0631	.	.	.	.	.	.	B	0.14438	0.01	B	0.09377	0.004	T	0.24728	-1.0152	7	0.13853	T	0.58	-4.9482	6.4391	0.21839	0.0:0.53:0.3087:0.1613	.	251	Q674R7	ATG9B_HUMAN	T	251	.	ENSP00000444232:R251T	R	-	2	0	AC010973.1	150351134	0.100000	0.21855	0.000000	0.03702	0.535000	0.34838	1.369000	0.34227	0.209000	0.20645	0.655000	0.94253	AGA		PASS	0.527	ATG9B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173681		46	287	46	287	---	---	---	---
CNPY1	285888	broad.mit.edu	37	7	155301727	155301727	+	Silent	SNP	G	G	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr7:155301727G>A	ENST00000321736.5	-	2	168	c.6C>T	c.(4-6)aaC>aaT	p.N2N	CNPY1_ENST00000406197.1_Silent_p.N2N|AC008060.5_ENST00000415333.1_RNA	NM_001103176.1	NP_001096646.1	Q3B7I2	CNPY1_HUMAN	canopy FGF signaling regulator 1	2								p.N2N(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GCTTGTAGTCGTTCATTCGCT	0.438																																						uc003wmc.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(4-6)AAC>AAT		canopy 1 homolog							62.0	61.0	61.0					7																	155301727		1840	4087	5927	SO:0001819	synonymous_variant	285888							g.chr7:155301727G>A		CCDS43684.1	7q36.3	2014-02-12	2013-07-23		ENSG00000146910	ENSG00000146910			27786	protein-coding gene	gene with protein product		612493	"""canopy 1 homolog (zebrafish)"""			16488878	Standard	NM_001103176		Approved		uc003wmc.1	Q3B7I2	OTTHUMG00000151353	ENST00000321736.5:c.6C>T	7.37:g.155301727G>A							p.N2N	NM_001103176	NP_001096646	Q3B7I2	CNPY1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	2	151	-	all_neural(206;0.119)	all_hematologic(28;0.0592)	2					A6NGX3	Silent	SNP	ENST00000321736.5	37	c.6C>T	CCDS43684.1																																																																																				PASS	0.438	CNPY1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322335.1	XM_001129537		50	66	50	66	---	---	---	---
SGK223	157285	broad.mit.edu	37	8	8234654	8234654	+	Missense_Mutation	SNP	G	G	A	rs200408112		TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr8:8234654G>A	ENST00000520004.1	-	3	1529	c.1265C>T	c.(1264-1266)cCg>cTg	p.P422L	SGK223_ENST00000330777.4_Missense_Mutation_p.P422L			Q86YV5	SG223_HUMAN		424							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.P422L(1)|p.A422V(1)									GGAAGGCACCGGAGCTGCCTT	0.627													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17692	0.0		0.0	False		,,,				2504	0.0				GBM(34;731 755 10259 33573 33867)	uc003wsh.3																			2	Substitution - Missense(2)		lung(2)		0						c.(1264-1266)CCG>CTG		pragmin		G	LEU/PRO	1,4039		0,1,2019	54.0	59.0	57.0		1265	3.5	0.0	8		57	0,8360		0,0,4180	yes	missense	SGK223	NM_001080826.1	98	0,1,6199	AA,AG,GG		0.0,0.0248,0.0081	probably-damaging	422/1403	8234654	1,12399	2020	4180	6200	SO:0001583	missense	157285						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8234654G>A																												ENST00000520004.1:c.1265C>T	8.37:g.8234654G>A	ENSP00000428054:p.Pro422Leu						p.P422L	NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN			2	1265	-			422					Q8N3N5	Missense_Mutation	SNP	ENST00000520004.1	37	c.1265C>T	CCDS43706.1	.	.	.	.	.	.	.	.	.	.	G	2.859	-0.236474	0.05944	2.48E-4	0.0	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.53640	0.61;0.61	5.29	3.47	0.39725	.	0.658556	0.14033	N	0.345980	T	0.31979	0.0814	L	0.46157	1.445	0.09310	N	0.999999	B	0.29766	0.256	B	0.18561	0.022	T	0.12656	-1.0539	10	0.22706	T	0.39	.	3.3686	0.07212	0.2542:0.0:0.5516:0.1942	.	422	Q86YV5	SG223_HUMAN	L	422	ENSP00000330930:P422L;ENSP00000428054:P422L	ENSP00000330930:P422L	P	-	2	0	AC068353.1	8272064	0.050000	0.20438	0.013000	0.15412	0.019000	0.09904	2.355000	0.44107	1.368000	0.46115	0.655000	0.94253	CCG		PASS	0.627	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			3	61	3	61	---	---	---	---
PXDNL	137902	broad.mit.edu	37	8	52321350	52321350	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr8:52321350G>A	ENST00000356297.4	-	17	2934	c.2834C>T	c.(2833-2835)gCg>gTg	p.A945V	PXDNL_ENST00000543296.1_Missense_Mutation_p.A945V	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	945					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.A144V(1)|p.A945V(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CTCCTGTCGCGCGCACTCGGT	0.652																																						uc003xqu.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(2833-2835)GCG>GTG		peroxidasin homolog-like precursor							15.0	17.0	16.0					8																	52321350		1959	4139	6098	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52321350G>A		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.2834C>T	8.37:g.52321350G>A	ENSP00000348645:p.Ala945Val					PXDNL_uc003xqt.3_RNA	p.A945V	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			17	2935	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	945					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.2834C>T	CCDS47855.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.250|4.250	0.045397|0.045397	0.08196|0.08196	.|.	.|.	ENSG00000147485|ENSG00000147485	ENST00000356297;ENST00000543296|ENST00000522933	T;T|.	0.72835|.	-0.69;-0.69|.	3.8|3.8	2.91|2.91	0.33838|0.33838	.|.	1.234380|.	0.06407|.	U|.	0.719947|.	T|T	0.19685|0.19685	0.0473|0.0473	N|N	0.12502|0.12502	0.225|0.225	0.09310|0.09310	N|N	1|1	B|.	0.23854|.	0.092|.	B|.	0.26416|.	0.069|.	T|T	0.26538|0.26538	-1.0100|-1.0100	10|5	0.27082|.	T|.	0.32|.	.|.	7.0795|7.0795	0.25223|0.25223	0.1036:0.0:0.7219:0.1744|0.1036:0.0:0.7219:0.1744	.|.	945|.	A1KZ92|.	PXDNL_HUMAN|.	V|C	945|64	ENSP00000348645:A945V;ENSP00000444865:A945V|.	ENSP00000348645:A945V|.	A|R	-|-	2|1	0|0	PXDNL|PXDNL	52483903|52483903	0.935000|0.935000	0.31712|0.31712	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	2.571000|2.571000	0.45990|0.45990	0.118000|0.118000	0.18165|0.18165	-0.808000|-0.808000	0.03180|0.03180	GCG|CGC		PASS	0.652	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		5	22	5	22	---	---	---	---
NSMAF	8439	broad.mit.edu	37	8	59502566	59502566	+	Splice_Site	SNP	A	A	G			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr8:59502566A>G	ENST00000038176.3	-	25	2299	c.2087T>C	c.(2086-2088)gTc>gCc	p.V696A	NSMAF_ENST00000427130.2_Splice_Site_p.V727A	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	696					ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)	p.V727A(1)|p.V696A(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				AGATACATACACATTATTATC	0.428																																						uc003xtt.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2086-2088)GTC>GCC		neutral sphingomyelinase (N-SMase) activation							107.0	93.0	98.0					8																	59502566		2203	4300	6503	SO:0001630	splice_region_variant	8439				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity	g.chr8:59502566A>G	X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"""WD repeat domain containing"""	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.2087+1T>C	8.37:g.59502566A>G						NSMAF_uc011lee.1_Missense_Mutation_p.V727A	p.V696A	NM_003580	NP_003571	Q92636	FAN_HUMAN			25	2301	-		all_lung(136;0.174)|Lung NSC(129;0.2)	696			WD 2.		B4DFB0|E9PCH0|Q8IW26	Missense_Mutation	SNP	ENST00000038176.3	37	c.2087T>C	CCDS6173.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.258632	0.80246	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	T;T	0.37584	1.19;1.19	5.72	5.72	0.89469	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.448959	0.25321	N	0.031514	T	0.37433	0.1003	L	0.61218	1.895	0.48511	D	0.999665	P;B	0.42692	0.787;0.266	B;B	0.37601	0.254;0.113	T	0.22836	-1.0205	9	.	.	.	.	16.2988	0.82793	1.0:0.0:0.0:0.0	.	727;696	Q92636-2;Q92636	.;FAN_HUMAN	A	696;727	ENSP00000038176:V696A;ENSP00000411012:V727A	.	V	-	2	0	NSMAF	59665120	1.000000	0.71417	0.951000	0.38953	0.995000	0.86356	7.590000	0.82653	2.311000	0.77944	0.533000	0.62120	GTC		PASS	0.428	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378384.1	NM_003580	Missense_Mutation	15	31	15	31	---	---	---	---
PREX2	80243	broad.mit.edu	37	8	69069635	69069635	+	Missense_Mutation	SNP	C	C	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr8:69069635C>T	ENST00000288368.4	+	35	4587	c.4310C>T	c.(4309-4311)tCa>tTa	p.S1437L		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1437					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.S1437L(1)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AATGCAGCCTCACTGGAAAAG	0.343																																						uc003xxv.1																			1	Substitution - Missense(1)		lung(1)	skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						c.(4309-4311)TCA>TTA		DEP domain containing 2 isoform a							107.0	108.0	108.0					8																	69069635		2203	4300	6503	SO:0001583	missense	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:69069635C>T	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.4310C>T	8.37:g.69069635C>T	ENSP00000288368:p.Ser1437Leu						p.S1437L	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN			35	4337	+			1437					B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.4310C>T	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	C	31	5.071163	0.93950	.	.	ENSG00000046889	ENST00000288368	T	0.52754	0.65	5.7	5.7	0.88788	.	0.000000	0.64402	D	0.000001	T	0.63022	0.2476	M	0.71036	2.16	0.80722	D	1	B	0.33477	0.413	P	0.45639	0.488	T	0.64283	-0.6444	10	0.87932	D	0	.	19.8383	0.96670	0.0:1.0:0.0:0.0	.	1437	Q70Z35	PREX2_HUMAN	L	1437	ENSP00000288368:S1437L	ENSP00000288368:S1437L	S	+	2	0	PREX2	69232189	1.000000	0.71417	0.960000	0.40013	0.965000	0.64279	7.452000	0.80683	2.683000	0.91414	0.650000	0.86243	TCA		PASS	0.343	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		11	38	11	38	---	---	---	---
EYA1	2138	broad.mit.edu	37	8	72184094	72184094	+	Missense_Mutation	SNP	C	C	G	rs201504674		TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr8:72184094C>G	ENST00000340726.3	-	10	1504	c.865G>C	c.(865-867)Gat>Cat	p.D289H	EYA1_ENST00000303824.7_Missense_Mutation_p.D283H|EYA1_ENST00000388743.2_Missense_Mutation_p.D288H|EYA1_ENST00000388740.3_Missense_Mutation_p.D256H|EYA1_ENST00000388742.4_Missense_Mutation_p.D289H|EYA1_ENST00000388741.2_Missense_Mutation_p.D255H|EYA1_ENST00000419131.1_Missense_Mutation_p.D284H	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	289					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)	p.D289H(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GAATCTGAATCTTTAATGGGT	0.458																																						uc003xys.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5						c.(865-867)GAT>CAT		eyes absent 1 isoform b							262.0	247.0	252.0					8																	72184094		2203	4300	6503	SO:0001583	missense	2138				double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr8:72184094C>G	AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3519	protein-coding gene	gene with protein product		601653	"""eyes absent (Drosophila) homolog 1"", ""eyes absent homolog 1 (Drosophila)"""	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.865G>C	8.37:g.72184094C>G	ENSP00000342626:p.Asp289His					EYA1_uc003xyr.3_Missense_Mutation_p.D284H|EYA1_uc003xyt.3_Missense_Mutation_p.D256H|EYA1_uc010lzf.2_Missense_Mutation_p.D216H|EYA1_uc003xyu.2_Missense_Mutation_p.D289H|EYA1_uc011lfe.1_Missense_Mutation_p.D283H|EYA1_uc003xyv.2_Missense_Mutation_p.D167H	p.D289H	NM_172058	NP_742055	Q99502	EYA1_HUMAN	Epithelial(68;0.0837)|all cancers(69;0.247)		9	1152	-	Breast(64;0.046)		289					A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP	ENST00000340726.3	37	c.865G>C	CCDS34906.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.787830	0.70337	.	.	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000388744;ENST00000388740;ENST00000303824;ENST00000388741;ENST00000388743;ENST00000419131	D;D;D;D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62;-1.62;-1.62;-1.62	5.7	5.7	0.88788	.	0.096519	0.64402	D	0.000001	D	0.87869	0.6286	L	0.48642	1.525	0.80722	D	1	P;B;B;P;P	0.51147	0.929;0.004;0.001;0.929;0.942	P;B;B;P;P	0.59288	0.718;0.018;0.007;0.855;0.785	D	0.88033	0.2776	10	0.66056	D	0.02	-15.2974	19.8344	0.96650	0.0:1.0:0.0:0.0	.	283;216;256;289;284	A6NCB9;Q0P517;Q99502-2;Q99502;G5E9R4	.;.;.;EYA1_HUMAN;.	H	289;289;257;256;283;255;288;284	ENSP00000373394:D289H;ENSP00000342626:D289H;ENSP00000373392:D256H;ENSP00000303221:D283H;ENSP00000373393:D255H;ENSP00000373395:D288H;ENSP00000410176:D284H	ENSP00000303221:D283H	D	-	1	0	EYA1	72346648	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.440000	0.80464	2.696000	0.92011	0.561000	0.74099	GAT		PASS	0.458	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060		14	331	14	331	---	---	---	---
TRPA1	8989	broad.mit.edu	37	8	72938268	72938268	+	Missense_Mutation	SNP	C	C	G			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr8:72938268C>G	ENST00000262209.4	-	25	3185	c.2978G>C	c.(2977-2979)tGg>tCg	p.W993S	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	993					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)	p.W993S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GCGTAGAAACCAAAGTGGCAG	0.363																																						uc003xza.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(1)|kidney(1)	6						c.(2977-2979)TGG>TCG		ankyrin-like protein 1	Menthol(DB00825)						116.0	107.0	110.0					8																	72938268		2203	4300	6503	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72938268C>G	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.2978G>C	8.37:g.72938268C>G	ENSP00000262209:p.Trp993Ser					uc011lff.1_Intron|uc003xyy.2_Intron	p.W993S	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		25	3153	-			993			Cytoplasmic (Potential).		A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.2978G>C	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.016408	0.54468	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.43688	0.94;1.03	5.79	4.89	0.63831	.	0.155196	0.64402	D	0.000007	T	0.60301	0.2258	M	0.80183	2.485	0.80722	D	1	D	0.61697	0.99	P	0.56612	0.802	T	0.66221	-0.5978	10	0.59425	D	0.04	-0.1333	13.8543	0.63517	0.0:0.9244:0.0:0.0756	.	993	O75762	TRPA1_HUMAN	S	845;993	ENSP00000428151:W845S;ENSP00000262209:W993S	ENSP00000262209:W993S	W	-	2	0	TRPA1	73100822	1.000000	0.71417	0.989000	0.46669	0.644000	0.38419	4.677000	0.61634	1.411000	0.46957	0.555000	0.69702	TGG		PASS	0.363	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		51	103	51	103	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77764838	77764838	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr8:77764838C>A	ENST00000521891.2	+	10	6129	c.5681C>A	c.(5680-5682)tCc>tAc	p.S1894Y	ZFHX4_ENST00000050961.6_Missense_Mutation_p.S1849Y|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S1868Y|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S1849Y	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1849					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.S1894Y(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)			TTGGAACCATCCATCCCACCA	0.418										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(5545-5547)TCC>TAC		zinc finger homeodomain 4							30.0	27.0	28.0					8																	77764838		1883	4107	5990	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77764838C>A		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.5681C>A	8.37:g.77764838C>A	ENSP00000430497:p.Ser1894Tyr	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.S1894Y|ZFHX4_uc003yaw.1_Missense_Mutation_p.S1849Y	p.S1849Y	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	5933	+			1849					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.5546C>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	2.262	-0.369066	0.05069	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.52754	0.65;0.7;0.67;0.66	4.71	0.505	0.16953	.	1.099280	0.07161	U	0.850757	T	0.37376	0.1001	L	0.44542	1.39	0.09310	N	1	B;B;B	0.24963	0.07;0.115;0.115	B;B;B	0.27608	0.037;0.081;0.081	T	0.27226	-1.0080	10	0.02654	T	1	.	11.875	0.52541	0.0:0.4077:0.5216:0.0706	.	1849;1849;1894	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	Y	1894;1894;1849;1849;1868	ENSP00000430497:S1894Y;ENSP00000399605:S1849Y;ENSP00000050961:S1849Y;ENSP00000430848:S1868Y	ENSP00000050961:S1849Y	S	+	2	0	ZFHX4	77927393	0.003000	0.15002	0.000000	0.03702	0.990000	0.78478	1.188000	0.32102	-0.009000	0.14296	0.632000	0.83419	TCC		PASS	0.418	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		18	11	18	11	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77765435	77765435	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr8:77765435C>A	ENST00000521891.2	+	10	6726	c.6278C>A	c.(6277-6279)cCc>cAc	p.P2093H	ZFHX4_ENST00000050961.6_Missense_Mutation_p.P2048H|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P2067H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P2048H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2048					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.P2077H(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)			GCGCTTCCTCCCCAGCTTGCC	0.562										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(6142-6144)CCC>CAC		zinc finger homeodomain 4							25.0	27.0	26.0					8																	77765435		2065	4181	6246	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77765435C>A		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.6278C>A	8.37:g.77765435C>A	ENSP00000430497:p.Pro2093His	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.P2093H|ZFHX4_uc003yaw.1_Missense_Mutation_p.P2048H	p.P2048H	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	6530	+			2048			Pro-rich.		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.6143C>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	18.81	3.702249	0.68501	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.52754	0.65;0.71;0.68;0.67	3.76	2.85	0.33270	.	0.157496	0.29631	U	0.011611	T	0.29355	0.0731	N	0.14661	0.345	0.53005	D	0.99996	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.09377	0.001;0.004;0.003	T	0.05699	-1.0869	10	0.32370	T	0.25	.	12.1294	0.53934	0.0:0.825:0.175:0.0	.	2048;2048;2093	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	H	2093;2077;2048;2048;2067	ENSP00000430497:P2093H;ENSP00000399605:P2048H;ENSP00000050961:P2048H;ENSP00000430848:P2067H	ENSP00000050961:P2048H	P	+	2	0	ZFHX4	77927990	1.000000	0.71417	0.419000	0.26584	0.887000	0.51463	5.555000	0.67301	0.906000	0.36621	0.455000	0.32223	CCC		PASS	0.562	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		4	1	4	1	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77765936	77765937	+	Nonsense_Mutation	DNP	CC	CC	AA			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr8:77765936_77765937CC>AA	ENST00000521891.2	+	10	7227_7228	c.6779_6780CC>AA	c.(6778-6780)tCC>tAA	p.S2260*	ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.S2215*|ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.S2234*|ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.S2215*	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2215					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.S2244S(1)|p.S2244*(1)|p.S2244Y(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)			GAACAACTCTCCACTGTTCTCA	0.406										HNSCC(33;0.089)																												uc003yav.2																			3	Substitution - Missense(1)|Substitution - Nonsense(1)|Substitution - coding silent(1)		lung(3)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(6643-6645)TCC>TAC|c.(6643-6645)TCC>TCA		zinc finger homeodomain 4																																				SO:0001587	stop_gained	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77765936C>A|g.chr8:77765937C>A		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	Exception_encountered	8.37:g.77765936_77765937delinsAA	ENSP00000430497:p.Ser2260*	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.S2260Y|ZFHX4_uc003yaw.1_Missense_Mutation_p.S2215Y|ZFHX4_uc003yau.1_Silent_p.S2260S|ZFHX4_uc003yaw.1_Silent_p.S2215S	p.S2215Y|p.S2215S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	7031|7032	+			2215			Homeobox 2.		G3V138|Q18PS0|Q6ZN20	Missense_Mutation|Silent	SNP	ENST00000521891.2	37	c.6644C>A|c.6645C>A	CCDS47878.2																																																																																				PASS	0.406	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		11	13	11	13	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110437406	110437406	+	Silent	SNP	A	A	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr8:110437406A>T	ENST00000378402.5	+	24	2894	c.2790A>T	c.(2788-2790)gcA>gcT	p.A930A		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	930					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.A932A(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTCAAGCTGCATCTCCACCTC	0.348										HNSCC(38;0.096)																												uc003yne.2																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(2788-2790)GCA>GCT		fibrocystin L precursor							47.0	46.0	46.0					8																	110437406		1836	4095	5931	SO:0001819	synonymous_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110437406A>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.2790A>T	8.37:g.110437406A>T		HNSCC(38;0.096)					p.A930A	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		24	2894	+			930			Extracellular (Potential).		Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	c.2790A>T	CCDS47911.1																																																																																				PASS	0.348	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		3	39	3	39	---	---	---	---
SCRIB	23513	broad.mit.edu	37	8	144891120	144891120	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr8:144891120G>A	ENST00000320476.3	-	15	1780	c.1774C>T	c.(1774-1776)Ccc>Tcc	p.P592S	SCRIB_ENST00000356994.2_Missense_Mutation_p.P592S|SCRIB_ENST00000377533.3_Missense_Mutation_p.P511S	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	592	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)		p.P592S(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			AGGGTCCAGGGGGCCTCAGGC	0.647																																					Pancreas(51;966 1133 10533 14576 29674)	uc003yzp.1																			2	Substitution - Missense(2)		lung(2)	urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5						c.(1774-1776)CCC>TCC		scribble isoform b							58.0	61.0	60.0					8																	144891120		2203	4300	6503	SO:0001583	missense	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144891120G>A	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.1774C>T	8.37:g.144891120G>A	ENSP00000322938:p.Pro592Ser					SCRIB_uc003yzo.1_Missense_Mutation_p.P592S	p.P592S	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		15	1781	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		592			Sufficient for targeting to adherens junction and to inhibit cell proliferation.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	c.1774C>T	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	g	8.081	0.772431	0.16051	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533	T;T;T	0.35236	1.53;1.51;1.32	4.07	2.16	0.27623	.	.	.	.	.	T	0.31888	0.0811	M	0.66939	2.045	0.35687	D	0.814556	B;B	0.28055	0.036;0.199	B;B	0.23574	0.021;0.047	T	0.29671	-1.0004	9	0.13470	T	0.59	.	10.9537	0.47345	0.0:0.3384:0.6616:0.0	.	592;592	Q14160;Q14160-3	SCRIB_HUMAN;.	S	592;592;511	ENSP00000349486:P592S;ENSP00000322938:P592S;ENSP00000366756:P511S	ENSP00000322938:P592S	P	-	1	0	SCRIB	144963108	0.975000	0.34042	0.996000	0.52242	0.483000	0.33249	1.749000	0.38319	0.407000	0.25591	0.401000	0.26515	CCC		PASS	0.647	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		59	85	59	85	---	---	---	---
EXOSC4	54512	broad.mit.edu	37	8	145135352	145135352	+	Missense_Mutation	SNP	A	A	G			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr8:145135352A>G	ENST00000316052.5	+	3	689	c.586A>G	c.(586-588)Att>Gtt	p.I196V	GPAA1_ENST00000355091.4_5'Flank|GPAA1_ENST00000361036.6_5'Flank|CTD-3065J16.9_ENST00000524499.1_RNA|EXOSC4_ENST00000525936.1_Missense_Mutation_p.D153G	NM_019037.2	NP_061910.1	Q9NPD3	EXOS4_HUMAN	exosome component 4	196					defense response to virus (GO:0051607)|DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5'-exoribonuclease activity (GO:0000175)|AU-rich element binding (GO:0017091)	p.I196V(1)		lung(4)|prostate(1)|upper_aerodigestive_tract(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTCAGGACAGATTGCGCTGCT	0.667																																						uc003zau.2																			1	Substitution - Missense(1)		lung(1)		0						c.(586-588)ATT>GTT		exosome component 4							63.0	68.0	66.0					8																	145135352		2203	4299	6502	SO:0001583	missense	54512				DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear mRNA surveillance|positive regulation of cell growth	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding	g.chr8:145135352A>G	AF281133	CCDS6414.1	8q24.3	2004-03-26			ENSG00000178896	ENSG00000178896			18189	protein-coding gene	gene with protein product	"""exosome component Rrp41"""	606491				11110791	Standard	NM_019037		Approved	hRrp41p, FLJ20591, Rrp41p, RRP41, RRP41A, Ski6p, SKI6, p12A	uc003zau.3	Q9NPD3	OTTHUMG00000165437	ENST00000316052.5:c.586A>G	8.37:g.145135352A>G	ENSP00000315476:p.Ile196Val					GPAA1_uc003zav.1_5'Flank|GPAA1_uc003zaw.1_5'Flank|GPAA1_uc003zax.2_5'Flank	p.I196V	NM_019037	NP_061910	Q9NPD3	EXOS4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		3	696	+	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		196						Missense_Mutation	SNP	ENST00000316052.5	37	c.586A>G	CCDS6414.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.59|11.59	1.683012|1.683012	0.29872|0.29872	.|.	.|.	ENSG00000178896|ENSG00000178896	ENST00000525936|ENST00000316052;ENST00000527954	.|T;T	.|0.40476	.|1.03;1.03	5.38|5.38	2.73|2.73	0.32206|0.32206	.|Exoribonuclease, phosphorolytic domain 2 (2);	.|0.118823	.|0.56097	.|D	.|0.000038	T|T	0.32133|0.32133	0.0819|0.0819	L|L	0.46947|0.46947	1.48|1.48	0.24544|0.24544	N|N	0.994055|0.994055	.|B	.|0.02656	.|0.0	.|B	.|0.11329	.|0.006	T|T	0.21075|0.21075	-1.0256|-1.0256	6|10	0.52906|0.12430	T|T	0.07|0.62	-9.7637|-9.7637	11.4182|11.4182	0.49965|0.49965	0.703:0.297:0.0:0.0|0.703:0.297:0.0:0.0	.|.	.|196	.|Q9NPD3	.|EXOS4_HUMAN	G|V	153|196;219	.|ENSP00000315476:I196V;ENSP00000436539:I219V	ENSP00000432661:D153G|ENSP00000315476:I196V	D|I	+|+	2|1	0|0	EXOSC4|EXOSC4	145207340|145207340	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.874000|0.874000	0.50279|0.50279	4.308000|4.308000	0.59129|0.59129	0.842000|0.842000	0.35045|0.35045	0.459000|0.459000	0.35465|0.35465	GAT|ATT		PASS	0.667	EXOSC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384065.1	NM_019037		27	123	27	123	---	---	---	---
AGTPBP1	23287	broad.mit.edu	37	9	88292479	88292479	+	Missense_Mutation	SNP	C	C	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr9:88292479C>T	ENST00000357081.3	-	6	452	c.308G>A	c.(307-309)aGt>aAt	p.S103N	AGTPBP1_ENST00000376083.3_Missense_Mutation_p.S103N|AGTPBP1_ENST00000376081.4_Missense_Mutation_p.S103N|AGTPBP1_ENST00000337006.4_Missense_Mutation_p.S45N|AGTPBP1_ENST00000376080.1_Missense_Mutation_p.S45N|AGTPBP1_ENST00000491784.1_5'UTR|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.S155N|AGTPBP1_ENST00000432218.1_5'UTR			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	103					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.S103N(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						GACTAAGAAACTCACTCTTCG	0.294																																						uc011ltd.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|skin(1)	7						c.(307-309)AGT>AAT		ATP/GTP binding protein 1							100.0	98.0	99.0					9																	88292479		2203	4300	6503	SO:0001583	missense	23287				C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr9:88292479C>T	AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.308G>A	9.37:g.88292479C>T	ENSP00000349592:p.Ser103Asn					AGTPBP1_uc011ltc.1_Missense_Mutation_p.S45N|AGTPBP1_uc010mqc.2_Missense_Mutation_p.S103N|AGTPBP1_uc011lte.1_Missense_Mutation_p.S155N	p.S103N	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN			5	341	-			103					B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Missense_Mutation	SNP	ENST00000357081.3	37	c.308G>A		.	.	.	.	.	.	.	.	.	.	C	5.516	0.280162	0.10458	.	.	ENSG00000135049	ENST00000337006;ENST00000357081;ENST00000376083;ENST00000376109;ENST00000376081;ENST00000376080	T;T;T;T;T;T	0.49139	0.79;0.79;0.83;0.83;0.79;0.79	5.63	4.74	0.60224	Armadillo-like helical (1);Armadillo-type fold (1);	0.221612	0.56097	N	0.000037	T	0.33789	0.0875	L	0.38531	1.155	0.39827	D	0.972915	B;B;B	0.15473	0.013;0.007;0.012	B;B;B	0.13407	0.009;0.004;0.009	T	0.14200	-1.0481	10	0.08837	T	0.75	-17.9028	11.0215	0.47720	0.0:0.8573:0.0:0.1427	.	155;103;103	Q9UPW5-3;Q9UPW5;Q9UPW5-2	.;CBPC1_HUMAN;.	N	45;103;103;155;103;45	ENSP00000338512:S45N;ENSP00000349592:S103N;ENSP00000365251:S103N;ENSP00000365277:S155N;ENSP00000365249:S103N;ENSP00000365248:S45N	ENSP00000338512:S45N	S	-	2	0	AGTPBP1	87482299	1.000000	0.71417	0.993000	0.49108	0.031000	0.12232	2.732000	0.47352	1.509000	0.48786	-0.140000	0.14226	AGT		PASS	0.294	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239		31	68	31	68	---	---	---	---
FAM120A	23196	broad.mit.edu	37	9	96326821	96326821	+	Silent	SNP	A	A	G			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr9:96326821A>G	ENST00000277165.6	+	18	3550	c.3356A>G	c.(3355-3357)tAa>tGa	p.*1119*	AL353629.1_ENST00000582353.1_RNA|FAM120A_ENST00000340893.4_Silent_p.*1073*|FAM120A_ENST00000333936.5_Silent_p.*1147*	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	0						cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.*1119*(1)		endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AAAGAAGAGTAAACTTATTTT	0.408																																						uc004atw.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(3355-3357)TAA>TGA		oxidative stress-associated Src activator							30.0	34.0	33.0					9																	96326821		2197	4292	6489	SO:0001819	synonymous_variant	23196					cytoplasm|plasma membrane	RNA binding	g.chr9:96326821A>G	AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"""DNA polymerase-transactivated protein 1"", ""oxidative stess-associated Src activator"""	612265	"""chromosome 9 open reading frame 10"""	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.3356A>G	9.37:g.96326821A>G						FAM120A_uc004aty.2_Silent_p.*900*|FAM120A_uc004atz.2_Silent_p.*767*|FAM120A_uc010mrg.2_Silent_p.*386*|FAM120A_uc004aua.1_RNA	p.*1119*	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN			18	3381	+			1119					A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Silent	SNP	ENST00000277165.6	37	c.3356A>G	CCDS6706.1																																																																																				PASS	0.408	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053160.2	NM_014612		41	60	41	60	---	---	---	---
FANCC	2176	broad.mit.edu	37	9	97912344	97912344	+	Missense_Mutation	SNP	G	G	C			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr9:97912344G>C	ENST00000289081.3	-	7	801	c.547C>G	c.(547-549)Ctg>Gtg	p.L183V	FANCC_ENST00000375305.1_Missense_Mutation_p.L183V	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	183					DNA repair (GO:0006281)|germ cell development (GO:0007281)|myeloid cell homeostasis (GO:0002262)|nucleotide-excision repair (GO:0006289)|protein complex assembly (GO:0006461)|removal of superoxide radicals (GO:0019430)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.L183V(1)		kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				ACTCGTGACAGGGACGCCACT	0.463			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc004avh.2			yes	Rec		Fanconi anaemia C	9	9q22.3	2176	D|Mis|N|F|S	"""Fanconi anemia, complementation group C"""			L		AML|leukemia			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(547-549)CTG>GTG	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group C							62.0	64.0	64.0					9																	97912344		2203	4300	6503	SO:0001583	missense	2176	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	protein complex assembly	cytosol|nucleoplasm	protein binding	g.chr9:97912344G>C	BC006303	CCDS35071.1, CCDS75861.1	9q22.3	2014-09-17			ENSG00000158169	ENSG00000158169		"""Fanconi anemia, complementation groups"""	3584	protein-coding gene	gene with protein product		613899		FACC		1303234	Standard	NM_001243743		Approved	FAC, FA3	uc004avh.3	Q00597	OTTHUMG00000020279	ENST00000289081.3:c.547C>G	9.37:g.97912344G>C	ENSP00000289081:p.Leu183Val					FANCC_uc004avi.3_Missense_Mutation_p.L183V|FANCC_uc010mrm.1_RNA|FANCC_uc011lul.1_RNA	p.L183V	NM_000136	NP_000127	Q00597	FANCC_HUMAN			7	809	-		Acute lymphoblastic leukemia(62;0.138)	183					B1ALR8	Missense_Mutation	SNP	ENST00000289081.3	37	c.547C>G	CCDS35071.1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.537328	0.27475	.	.	ENSG00000158169	ENST00000289081;ENST00000375305	T;T	0.54866	0.55;0.55	4.77	1.75	0.24633	.	0.512179	0.19333	N	0.116845	T	0.47173	0.1431	L	0.50333	1.59	0.27530	N	0.951114	P	0.48230	0.907	P	0.48840	0.592	T	0.34976	-0.9807	10	0.41790	T	0.15	-8.4283	3.7895	0.08715	0.1972:0.0:0.5517:0.2511	.	183	Q00597	FANCC_HUMAN	V	183	ENSP00000289081:L183V;ENSP00000364454:L183V	ENSP00000289081:L183V	L	-	1	2	FANCC	96952165	0.951000	0.32395	0.979000	0.43373	0.183000	0.23260	0.342000	0.19926	0.734000	0.32515	0.650000	0.86243	CTG		PASS	0.463	FANCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053219.1	NM_000136		17	65	17	65	---	---	---	---
ZNF782	158431	broad.mit.edu	37	9	99581208	99581208	+	Missense_Mutation	SNP	T	T	C	rs145150698	byFrequency	TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr9:99581208T>C	ENST00000481138.1	-	6	1758	c.1097A>G	c.(1096-1098)tAt>tGt	p.Y366C	ZNF782_ENST00000466833.1_5'Flank|ZNF782_ENST00000535338.1_Missense_Mutation_p.Y234C	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y366C(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				ATTATACTCATAGGGTTTTGC	0.418													T|||	3	0.000599042	0.0023	0.0	5008	,	,		20845	0.0		0.0	False		,,,				2504	0.0					uc004awp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1096-1098)TAT>TGT		zinc finger protein 782		T	CYS/TYR	11,4395	19.1+/-41.9	0,11,2192	156.0	149.0	151.0		1097	-7.2	0.0	9	dbSNP_134	151	0,8600		0,0,4300	yes	missense	ZNF782	NM_001001662.1	194	0,11,6492	CC,CT,TT		0.0,0.2497,0.0846	benign	366/700	99581208	11,12995	2203	4300	6503	SO:0001583	missense	158431				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:99581208T>C	AK131468	CCDS35075.1	9q22.33	2013-01-08			ENSG00000196597	ENSG00000196597		"""Zinc fingers, C2H2-type"", ""-"""	33110	protein-coding gene	gene with protein product							Standard	NM_001001662		Approved	FLJ16636	uc004awp.1	Q6ZMW2	OTTHUMG00000020310	ENST00000481138.1:c.1097A>G	9.37:g.99581208T>C	ENSP00000419397:p.Tyr366Cys					ZNF782_uc011lup.1_Missense_Mutation_p.Y234C	p.Y366C	NM_001001662	NP_001001662	Q6ZMW2	ZN782_HUMAN			6	1378	-		Acute lymphoblastic leukemia(62;0.0527)	366			C2H2-type 4; degenerate.		B2RNR0	Missense_Mutation	SNP	ENST00000481138.1	37	c.1097A>G	CCDS35075.1	.	.	.	.	.	.	.	.	.	.	T	3.045	-0.196617	0.06259	0.002497	0.0	ENSG00000196597	ENST00000481138;ENST00000535338	T;T	0.20463	2.07;2.07	3.58	-7.16	0.01516	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.932207	0.08705	N	0.905727	T	0.16642	0.0400	M	0.66506	2.035	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32481	-0.9905	10	0.72032	D	0.01	.	2.2977	0.04154	0.2159:0.3914:0.2191:0.1736	.	366	Q6ZMW2	ZN782_HUMAN	C	366;234	ENSP00000419397:Y366C;ENSP00000440624:Y234C	ENSP00000419397:Y366C	Y	-	2	0	ZNF782	98621029	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.913000	0.01580	-2.476000	0.00526	-3.161000	0.00057	TAT		PASS	0.418	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356810.1	NM_001001662		11	214	11	214	---	---	---	---
GRIN3A	116443	broad.mit.edu	37	9	104433328	104433328	+	Missense_Mutation	SNP	T	T	C			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr9:104433328T>C	ENST00000361820.3	-	3	1966	c.1366A>G	c.(1366-1368)Atc>Gtc	p.I456V		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	456					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)	p.I456V(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	GAGCTGACGATGGTGGAACCT	0.483																																						uc004bbp.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(1366-1368)ATC>GTC		glutamate receptor, ionotropic,	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						139.0	140.0	139.0					9																	104433328		2203	4300	6503	SO:0001583	missense	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104433328T>C		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.1366A>G	9.37:g.104433328T>C	ENSP00000355155:p.Ile456Val					GRIN3A_uc004bbq.1_Missense_Mutation_p.I456V	p.I456V	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN			3	1967	-		Acute lymphoblastic leukemia(62;0.0568)	456			Extracellular (Potential).		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.1366A>G	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	T	0.764	-0.768337	0.02974	.	.	ENSG00000198785	ENST00000361820	D	0.85861	-2.04	5.76	5.76	0.90799	.	0.424324	0.24937	N	0.034402	T	0.76190	0.3953	L	0.31294	0.92	0.31608	N	0.651886	B	0.06786	0.001	B	0.08055	0.003	T	0.71244	-0.4650	10	0.19147	T	0.46	.	12.228	0.54472	0.0:0.0682:0.0:0.9317	.	456	Q8TCU5	NMD3A_HUMAN	V	456	ENSP00000355155:I456V	ENSP00000355155:I456V	I	-	1	0	GRIN3A	103473149	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.672000	0.46850	2.324000	0.78689	0.533000	0.62120	ATC		PASS	0.483	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			65	170	65	170	---	---	---	---
SUSD1	64420	broad.mit.edu	37	9	114886687	114886687	+	Missense_Mutation	SNP	G	G	A	rs370355977		TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr9:114886687G>A	ENST00000374270.3	-	6	908	c.736C>T	c.(736-738)Cgg>Tgg	p.R246W	SUSD1_ENST00000374264.2_Missense_Mutation_p.R246W|SUSD1_ENST00000374263.3_Missense_Mutation_p.R246W|SUSD1_ENST00000482851.1_5'UTR	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	246	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.R246W(1)	SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						ATGGCGTGCCGCATTTCTGGA	0.507																																						uc004bfu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(736-738)CGG>TGG		sushi domain containing 1 precursor		G	TRP/ARG	0,4406		0,0,2203	93.0	86.0	88.0		736	5.8	0.9	9		88	1,8599	1.2+/-3.3	0,1,4299	no	missense	SUSD1	NM_022486.3	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	246/748	114886687	1,13005	2203	4300	6503	SO:0001583	missense	64420					integral to membrane	calcium ion binding	g.chr9:114886687G>A	AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868			25413	protein-coding gene	gene with protein product						12975309	Standard	NM_022486		Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.736C>T	9.37:g.114886687G>A	ENSP00000363388:p.Arg246Trp					SUSD1_uc010mui.2_Missense_Mutation_p.R246W|SUSD1_uc010muj.2_Missense_Mutation_p.R246W	p.R246W	NM_022486	NP_071931	Q6UWL2	SUSD1_HUMAN			6	777	-			246			Sushi 2.|Extracellular (Potential).		A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Missense_Mutation	SNP	ENST00000374270.3	37	c.736C>T	CCDS6783.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.52|17.52	3.409731|3.409731	0.62399|0.62399	0.0|0.0	1.16E-4|1.16E-4	ENSG00000106868|ENSG00000106868	ENST00000355396|ENST00000374270;ENST00000374263;ENST00000374264	.|T;T;T	.|0.65364	.|-0.15;-0.15;-0.15	5.85|5.85	5.85|5.85	0.93711|0.93711	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.853544	.|0.09753	.|N	.|0.760307	T|T	0.61751|0.61751	0.2372|0.2372	N|N	0.22421|0.22421	0.69|0.69	0.25121|0.25121	N|N	0.990648|0.990648	.|D;D;D	.|0.67145	.|0.995;0.996;0.996	.|P;P;P	.|0.51101	.|0.528;0.491;0.659	T|T	0.58222|0.58222	-0.7674|-0.7674	5|10	.|0.52906	.|T	.|0.07	-0.0554|-0.0554	15.6497|15.6497	0.77081|0.77081	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|246;246;246	.|F8WAQ1;Q6UWL2-2;Q6UWL2	.|.;.;SUSD1_HUMAN	V|W	229|246	.|ENSP00000363388:R246W;ENSP00000363381:R246W;ENSP00000363382:R246W	.|ENSP00000363381:R246W	A|R	-|-	2|1	0|2	SUSD1|SUSD1	113926508|113926508	0.072000|0.072000	0.21174|0.21174	0.914000|0.914000	0.36105|0.36105	0.098000|0.098000	0.18820|0.18820	2.863000|2.863000	0.48396|0.48396	2.755000|2.755000	0.94549|0.94549	0.655000|0.655000	0.94253|0.94253	GCG|CGG		PASS	0.507	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053668.3	NM_022486		45	71	45	71	---	---	---	---
PHF19	26147	broad.mit.edu	37	9	123632136	123632136	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr9:123632136G>A	ENST00000373896.3	-	5	704	c.452C>T	c.(451-453)gCa>gTa	p.A151V	PHF19_ENST00000487555.1_5'Flank|PHF19_ENST00000312189.6_Missense_Mutation_p.A151V|PHF19_ENST00000419155.1_5'Flank	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	151					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.A151V(2)		NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CACAGCCAGTGCGAAGATGCA	0.632																																						uc004bks.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)	2						c.(451-453)GCA>GTA		PHD finger protein 19 isoform a							55.0	45.0	48.0					9																	123632136		2202	4300	6502	SO:0001583	missense	26147				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr9:123632136G>A	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.452C>T	9.37:g.123632136G>A	ENSP00000363003:p.Ala151Val					PHF19_uc011lyf.1_5'Flank|PHF19_uc004bkr.2_5'Flank|PHF19_uc004bkt.2_Missense_Mutation_p.A151V|PHF19_uc010mvk.2_3'UTR	p.A151V	NM_015651	NP_056466	Q5T6S3	PHF19_HUMAN			5	705	-			151			PHD-type 1.		Q32NF2|Q5T6S4|Q6N038|Q8TBL6|Q9UFS9	Missense_Mutation	SNP	ENST00000373896.3	37	c.452C>T	CCDS35116.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.220739	0.79464	.	.	ENSG00000119403	ENST00000544082;ENST00000373896;ENST00000436309;ENST00000312189	D;D;D	0.87650	-2.28;-2.28;-2.28	5.24	5.24	0.73138	Zinc finger, FYVE/PHD-type (1);	0.055306	0.64402	D	0.000001	D	0.86264	0.5891	L	0.49778	1.585	0.80722	D	1	P;B	0.51537	0.946;0.432	P;B	0.48677	0.586;0.26	D	0.86507	0.1807	10	0.52906	T	0.07	-14.9261	11.3145	0.49383	0.0836:0.0:0.9164:0.0	.	151;151	Q5T6S3-2;Q5T6S3	.;PHF19_HUMAN	V	151	ENSP00000363003:A151V;ENSP00000408479:A151V;ENSP00000310372:A151V	ENSP00000310372:A151V	A	-	2	0	PHF19	122671957	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.001000	0.88508	2.457000	0.83068	0.313000	0.20887	GCA		PASS	0.632	PHF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053838.3	XM_045308		4	31	4	31	---	---	---	---
KCNT1	57582	broad.mit.edu	37	9	138683697	138683697	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr9:138683697C>A	ENST00000263604.3	+	30	3542	c.3542C>A	c.(3541-3543)cCc>cAc	p.P1181H	KCNT1_ENST00000371757.2_Missense_Mutation_p.P1186H|KCNT1_ENST00000487664.1_Missense_Mutation_p.P1162H|KCNT1_ENST00000298480.5_Missense_Mutation_p.P1207H|KCNT1_ENST00000488444.2_Missense_Mutation_p.P1186H|KCNT1_ENST00000486577.2_Missense_Mutation_p.P1164H|KCNT1_ENST00000490355.2_Missense_Mutation_p.P1185H|KCNT1_ENST00000491806.2_Missense_Mutation_p.P1172H			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	1181					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.P1207H(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		AACCCTCCGCCCGACACGAGG	0.642																																						uc011mdq.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(1)|pancreas(1)	4						c.(3556-3558)CCC>CAC		potassium channel, subfamily T, member 1							127.0	115.0	119.0					9																	138683697		2203	4300	6503	SO:0001583	missense	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138683697C>A	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.3542C>A	9.37:g.138683697C>A	ENSP00000263604:p.Pro1181His					KCNT1_uc011mdr.1_Missense_Mutation_p.P1034H|KCNT1_uc010nbf.2_Missense_Mutation_p.P1162H	p.P1186H	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	30	3631	+		Myeloproliferative disorder(178;0.0821)	1186					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	ENST00000263604.3	37	c.3557C>A		.	.	.	.	.	.	.	.	.	.	C	16.29	3.081945	0.55861	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T	0.25749	1.79;1.85;1.78;1.79	5.24	5.24	0.73138	.	0.000000	0.85682	U	0.000000	T	0.50905	0.1643	L	0.61218	1.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.984;0.997	T	0.51841	-0.8654	10	0.66056	D	0.02	-19.975	18.8119	0.92061	0.0:1.0:0.0:0.0	.	1174;1186;1162	C9JYL2;B9EGP2;G5E9V0	.;.;.	H	1162;1207;1186;1166;1174;1188;1186;1181	ENSP00000417851:P1162H;ENSP00000298480:P1207H;ENSP00000360822:P1186H;ENSP00000263604:P1181H	ENSP00000263604:P1181H	P	+	2	0	KCNT1	137823518	1.000000	0.71417	0.086000	0.20670	0.003000	0.03518	7.609000	0.82925	2.438000	0.82558	0.655000	0.94253	CCC		PASS	0.642	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		19	68	19	68	---	---	---	---
FBXO18	84893	broad.mit.edu	37	10	5948139	5948139	+	Silent	SNP	C	C	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr10:5948139C>T	ENST00000362091.4	+	3	412	c.297C>T	c.(295-297)agC>agT	p.S99S	FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000379999.5_Silent_p.S150S	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	99					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)	p.S150S(1)		NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						CTGCAGAGAGCAGCTGTGCAC	0.597																																						uc001iis.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(295-297)AGC>AGT		F-box only protein, helicase, 18 isoform 2							54.0	54.0	54.0					10																	5948139		2203	4300	6503	SO:0001819	synonymous_variant	84893				DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr10:5948139C>T	AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.297C>T	10.37:g.5948139C>T						FBXO18_uc001iir.2_Silent_p.S25S|FBXO18_uc009xig.2_Silent_p.S25S|FBXO18_uc001iit.2_Silent_p.S150S	p.S99S	NM_178150	NP_835363	Q8NFZ0	FBX18_HUMAN			3	392	+			99					Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Silent	SNP	ENST00000362091.4	37	c.297C>T	CCDS7072.1																																																																																				PASS	0.597	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807		9	64	9	64	---	---	---	---
SKIDA1	387640	broad.mit.edu	37	10	21805147	21805147	+	Silent	SNP	C	C	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr10:21805147C>T	ENST00000449193.2	-	4	3857	c.1605G>A	c.(1603-1605)ccG>ccA	p.P535P	SKIDA1_ENST00000444772.3_Silent_p.P456P	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	454						nucleus (GO:0005634)		p.P535P(2)									CCAGGCTGGCCGGGCAGTACA	0.547																																						uc009xkd.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1603-1605)CCG>CCA		hypothetical protein LOC387640							42.0	47.0	45.0					10																	21805147		1986	4166	6152	SO:0001819	synonymous_variant	387640					nucleus	nucleotide binding	g.chr10:21805147C>T	AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 140"""	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.1605G>A	10.37:g.21805147C>T						uc001iqp.1_RNA	p.P535P	NM_207371	NP_997254	Q1XH10	DLN1_HUMAN			4	3858	-			454					B1ANA5|Q6ZMX4|Q8N3C3	Silent	SNP	ENST00000449193.2	37	c.1605G>A	CCDS44363.1																																																																																				PASS	0.547	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286950.2	NM_207371		21	48	21	48	---	---	---	---
PTCHD3	374308	broad.mit.edu	37	10	27702399	27702399	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr10:27702399G>T	ENST00000438700.3	-	1	898	c.781C>A	c.(781-783)Ctc>Atc	p.L261I		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	261					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)	p.L261I(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GGCACGCAGAGCGCCCTGTAC	0.632																																						uc001itu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(781-783)CTC>ATC		patched domain containing 3							44.0	48.0	46.0					10																	27702399		2203	4300	6503	SO:0001583	missense	374308				spermatid development	integral to membrane	hedgehog receptor activity	g.chr10:27702399G>T	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.781C>A	10.37:g.27702399G>T	ENSP00000417658:p.Leu261Ile						p.L261I	NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN			1	899	-			261					I3L499|Q6ZU28	Missense_Mutation	SNP	ENST00000438700.3	37	c.781C>A	CCDS31173.1	.	.	.	.	.	.	.	.	.	.	G	5.710	0.315513	0.10789	.	.	ENSG00000182077	ENST00000438700	D	0.85955	-2.05	3.93	-7.85	0.01192	.	3.728830	0.00465	N	0.000104	T	0.75620	0.3874	L	0.44542	1.39	0.09310	N	1	B	0.15141	0.012	B	0.21708	0.036	T	0.59878	-0.7371	10	0.37606	T	0.19	9.6953	1.1243	0.01732	0.3184:0.3159:0.1272:0.2385	.	261	Q3KNS1	PTHD3_HUMAN	I	261	ENSP00000417658:L261I	ENSP00000417658:L261I	L	-	1	0	PTCHD3	27742405	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-6.510000	0.00063	-3.894000	0.00094	-0.258000	0.10820	CTC		PASS	0.632	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		17	24	17	24	---	---	---	---
KIAA1462	57608	broad.mit.edu	37	10	30315900	30315900	+	Silent	SNP	C	C	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr10:30315900C>T	ENST00000375377.1	-	3	3278	c.3177G>A	c.(3175-3177)caG>caA	p.Q1059Q		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	1059					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)		p.Q1059Q(1)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CACTGGCACCCTGTTCTTGCC	0.597																																						uc001iux.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(3175-3177)CAG>CAA		hypothetical protein LOC57608							146.0	145.0	145.0					10																	30315900		1920	4119	6039	SO:0001819	synonymous_variant	57608							g.chr10:30315900C>T	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.3177G>A	10.37:g.30315900C>T						KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Silent_p.Q921Q|KIAA1462_uc009xle.1_Silent_p.Q1059Q	p.Q1059Q	NM_020848	NP_065899	Q9P266	K1462_HUMAN			2	3236	-			1059					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Silent	SNP	ENST00000375377.1	37	c.3177G>A	CCDS41500.1																																																																																				PASS	0.597	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		12	205	12	205	---	---	---	---
ANKRD30A	91074	broad.mit.edu	37	10	37508513	37508513	+	Silent	SNP	A	A	C			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr10:37508513A>C	ENST00000602533.1	+	34	3804	c.3705A>C	c.(3703-3705)acA>acC	p.T1235T	ANKRD30A_ENST00000361713.1_Silent_p.T1235T|ANKRD30A_ENST00000374660.1_Silent_p.T1354T			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1291					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T1235T(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AACGTGAAACACAGTGTCAAA	0.363																																						uc001iza.1																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|breast(1)|skin(1)	9						c.(3703-3705)ACA>ACC		ankyrin repeat domain 30A							73.0	63.0	66.0					10																	37508513		1924	4120	6044	SO:0001819	synonymous_variant	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37508513A>C	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.3705A>C	10.37:g.37508513A>C							p.T1235T	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			34	3804	+			1291			Potential.		Q5W025	Silent	SNP	ENST00000602533.1	37	c.3705A>C																																																																																					PASS	0.363	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		5	30	5	30	---	---	---	---
LZTS2	84445	broad.mit.edu	37	10	102766372	102766372	+	Missense_Mutation	SNP	G	G	C			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr10:102766372G>C	ENST00000370220.1	+	4	4520	c.1457G>C	c.(1456-1458)cGg>cCg	p.R486P	LZTS2_ENST00000370223.3_Missense_Mutation_p.R486P					leucine zipper, putative tumor suppressor 2									p.R486P(1)		breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GCTACGCTGCGGGTCAGTGAG	0.687																																					Esophageal Squamous(8;38 437 13604 19902 37640)	uc001ksj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|breast(1)	4						c.(1456-1458)CGG>CCG		leucine zipper, putative tumor suppressor 2							13.0	17.0	16.0					10																	102766372		2197	4297	6494	SO:0001583	missense	84445				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center		g.chr10:102766372G>C	AB058716	CCDS7507.1	10q24	2004-03-18			ENSG00000107816	ENSG00000107816			29381	protein-coding gene	gene with protein product		610454				11347906, 11709705	Standard	NM_032429		Approved	KIAA1813, LAPSER1	uc001ksj.3	Q9BRK4	OTTHUMG00000018914	ENST00000370220.1:c.1457G>C	10.37:g.102766372G>C	ENSP00000359240:p.Arg486Pro					LZTS2_uc010qpw.1_Missense_Mutation_p.R486P|LZTS2_uc001ksk.2_Missense_Mutation_p.R486P|LZTS2_uc001ksl.2_Missense_Mutation_p.R486P|LZTS2_uc001ksm.2_RNA	p.R486P	NM_032429	NP_115805	Q9BRK4	LZTS2_HUMAN		Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)	5	1526	+			486			Potential.|Sufficient for interaction with KATNB1 and for inhibition of katanin-mediated microtubule severing (By similarity).|Sufficient for interaction with CTNNB1.			Missense_Mutation	SNP	ENST00000370220.1	37	c.1457G>C	CCDS7507.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.235789	0.79800	.	.	ENSG00000107816	ENST00000370223;ENST00000315797;ENST00000370220	T;T	0.47528	0.84;0.84	5.67	5.67	0.87782	.	0.208646	0.42294	D	0.000722	T	0.62502	0.2433	M	0.67397	2.05	0.33545	D	0.595334	D	0.67145	0.996	D	0.68483	0.958	T	0.73830	-0.3859	10	0.72032	D	0.01	-30.966	8.7913	0.34852	0.16:0.0:0.84:0.0	.	486	Q9BRK4	LZTS2_HUMAN	P	486	ENSP00000359243:R486P;ENSP00000359240:R486P	ENSP00000314437:R486P	R	+	2	0	LZTS2	102756362	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	2.071000	0.41500	2.677000	0.91161	0.561000	0.74099	CGG		PASS	0.687	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049872.1	XM_046743		5	5	5	5	---	---	---	---
PNLIPRP2	5408	broad.mit.edu	37	10	118396302	118396302	+	RNA	SNP	T	T	G			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr10:118396302T>G	ENST00000298771.7	+	0	968				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000537242.1_RNA	NR_103727.1		P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process (GO:0019376)|lipid digestion (GO:0044241)|phospholipid catabolic process (GO:0009395)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	acylglycerol lipase activity (GO:0047372)|calcium ion binding (GO:0005509)|galactolipase activity (GO:0047714)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)	p.C315G(2)		endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		CTAGAGTAAGTGTTTCCCTTG	0.423																																						uc001lcq.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(946-948)TGT>GGT		pancreatic lipase-related protein 2							110.0	98.0	102.0					10																	118396302		1859	4099	5958			5408				galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity	g.chr10:118396302T>G	M93284		10q26.12	2014-03-14				ENSG00000266200	3.1.1.3		9157	protein-coding gene	gene with protein product		604423				1379598	Standard	NM_005396		Approved	PLRP2	uc001lcq.3	P54317			10.37:g.118396302T>G						PNLIPRP2_uc009xyv.1_RNA	p.C316G	NM_005396	NP_005387	P54317	LIPR2_HUMAN		all cancers(201;0.015)	12	969	+			315					A8K627|Q6IB55	Missense_Mutation	SNP	ENST00000298771.7	37	c.946T>G		.	.	.	.	.	.	.	.	.	.	T	6.668	0.491886	0.12702	.	.	ENSG00000165862	ENST00000537242	D	0.91521	-2.86	5.21	5.21	0.72293	Lipase, N-terminal (1);	0.245759	0.29515	U	0.011938	D	0.93314	0.7869	.	.	.	0.40019	D	0.975387	P	0.40731	0.728	P	0.52386	0.697	D	0.93976	0.7254	9	0.56958	D	0.05	.	15.0514	0.71872	0.0:0.0:0.0:1.0	.	315	P54317	LIPR2_HUMAN	G	315	ENSP00000446346:C315G	ENSP00000446346:C315G	C	+	1	0	PNLIPRP2	118386292	1.000000	0.71417	0.923000	0.36655	0.087000	0.18053	3.964000	0.56780	2.098000	0.63641	0.460000	0.39030	TGT		PASS	0.423	PNLIPRP2-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000050546.6	NM_005396		3	10	3	10	---	---	---	---
INPP5A	3632	broad.mit.edu	37	10	134579331	134579331	+	Missense_Mutation	SNP	G	G	C			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr10:134579331G>C	ENST00000368594.3	+	12	1235	c.958G>C	c.(958-960)Gac>Cac	p.D320H	INPP5A_ENST00000368593.3_Missense_Mutation_p.D320H	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	320					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|PH domain binding (GO:0042731)	p.D320H(2)		cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		GTATGAACTGGACATCTCGTT	0.493																																					Pancreas(63;823 1267 11107 20380 51626)	uc001llp.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(958-960)GAC>CAC		inositol polyphosphate-5-phosphatase A							173.0	166.0	169.0					10																	134579331		2203	4300	6503	SO:0001583	missense	3632				cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding	g.chr10:134579331G>C	X77567	CCDS7669.2	10q26.3	2008-08-07	2002-08-29		ENSG00000068383	ENSG00000068383	3.1.3.56		6076	protein-coding gene	gene with protein product	"""CTCL tumor antigen HD-CL-02"", ""43 kDa inositol polyphosphate 5-phophatase"", ""inositol polyphosphate 5-phophatase, 40kDa"", ""InsP3 5-phosphatase"", ""type I inositol-1,4,5-trisphosphate 5-phosphatase"""	600106	"""inositol polyphosphate-5-phosphatase, 40kD"""			8013665	Standard	NM_005539		Approved	5PTASE	uc001llp.3	Q14642	OTTHUMG00000019293	ENST00000368594.3:c.958G>C	10.37:g.134579331G>C	ENSP00000357583:p.Asp320His					INPP5A_uc001llo.1_Missense_Mutation_p.D320H|INPP5A_uc001llq.2_Missense_Mutation_p.D215H	p.D320H	NM_005539	NP_005530	Q14642	I5P1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)	12	1206	+		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)	320					D3DXI3|Q14640|Q5JSF1	Missense_Mutation	SNP	ENST00000368594.3	37	c.958G>C	CCDS7669.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.52|17.52	3.409034|3.409034	0.62399|0.62399	.|.	.|.	ENSG00000068383|ENSG00000068383	ENST00000368594;ENST00000368593;ENST00000416326;ENST00000432898;ENST00000445580|ENST00000342652	T;T|.	0.41065|.	1.01;1.01|.	4.25|4.25	4.25|4.25	0.50352|0.50352	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);|.	0.049986|.	0.85682|.	D|.	0.000000|.	T|T	0.69958|0.69958	0.3169|0.3169	L|L	0.59436|0.59436	1.845|1.845	0.48087|0.48087	D|D	0.999585|0.999585	B;D;P|.	0.54397|.	0.336;0.966;0.918|.	B;P;P|.	0.60345|.	0.205;0.873;0.823|.	T|T	0.69953|0.69953	-0.5005|-0.5005	10|5	0.46703|.	T|.	0.11|.	-22.3019|-22.3019	15.8293|15.8293	0.78739|0.78739	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	263;320;320|.	F5GWM1;Q14642;Q5T1B5|.	.;I5P1_HUMAN;.|.	H|A	320;320;263;237;2|234	ENSP00000357583:D320H;ENSP00000357582:D320H|.	ENSP00000357582:D320H|.	D|G	+|+	1|2	0|0	INPP5A|INPP5A	134429321|134429321	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.038000|7.038000	0.76537|0.76537	2.080000|2.080000	0.62538|0.62538	0.650000|0.650000	0.86243|0.86243	GAC|GGA		PASS	0.493	INPP5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051085.1	NM_005539		4	89	4	89	---	---	---	---
PHRF1	57661	broad.mit.edu	37	11	608509	608509	+	Missense_Mutation	SNP	G	G	T	rs553793466|rs144630030|rs376527396	byFrequency	TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr11:608509G>T	ENST00000264555.5	+	14	3181	c.3053G>T	c.(3052-3054)cGc>cTc	p.R1018L	PHRF1_ENST00000416188.2_Missense_Mutation_p.R1017L|PHRF1_ENST00000533464.1_Missense_Mutation_p.R1014L|PHRF1_ENST00000413872.2_Missense_Mutation_p.R1016L	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1018	Arg-rich.				mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)	p.G1020_S1023delGTRS(2)|p.R1023L(1)|p.R1018L(1)|p.G1025_S1028delGTRS(1)		breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GGACGGACGCGCTCTGGGACG	0.672																																						uc001lqe.2																			5	Deletion - In frame(3)|Substitution - Missense(2)		lung(2)|breast(2)|ovary(1)		0						c.(3052-3054)CGC>CTC		PHD and ring finger domains 1							25.0	33.0	30.0					11																	608509		2166	4275	6441	SO:0001583	missense	57661						RNA polymerase binding|zinc ion binding	g.chr11:608509G>T	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.3053G>T	11.37:g.608509G>T	ENSP00000264555:p.Arg1018Leu					PHRF1_uc010qwc.1_Missense_Mutation_p.R1017L|PHRF1_uc010qwd.1_Missense_Mutation_p.R1016L|PHRF1_uc010qwe.1_Missense_Mutation_p.R1014L|PHRF1_uc009ybz.1_Missense_Mutation_p.R808L|PHRF1_uc009yca.1_RNA	p.R1018L	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN			14	3184	+			1018			Arg-rich.		A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37	c.3053G>T		.	.	.	.	.	.	.	.	.	.	g	9.497	1.102245	0.20632	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	4.32	3.42	0.39159	.	0.183995	0.26650	N	0.023212	T	0.39118	0.1066	N	0.24115	0.695	0.09310	N	1	D;D;D;D	0.58970	0.973;0.984;0.984;0.973	P;P;P;P	0.55871	0.615;0.786;0.786;0.615	T	0.11743	-1.0575	10	0.59425	D	0.04	-27.7354	7.4004	0.26960	0.2612:0.0:0.7388:0.0	.	1014;1016;1017;1018	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	L	1018;1016;1017;1014	ENSP00000264555:R1018L;ENSP00000388589:R1016L;ENSP00000410626:R1017L;ENSP00000431870:R1014L	ENSP00000264555:R1018L	R	+	2	0	PHRF1	598509	0.012000	0.17670	0.005000	0.12908	0.016000	0.09150	0.554000	0.23407	1.049000	0.40321	0.556000	0.70494	CGC		PASS	0.672	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		14	43	14	43	---	---	---	---
KCNQ1	3784	broad.mit.edu	37	11	2608873	2608873	+	Missense_Mutation	SNP	G	G	T	rs542628042		TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr11:2608873G>T	ENST00000155840.5	+	9	1310	c.1202G>T	c.(1201-1203)cGg>cTg	p.R401L	KCNQ1_ENST00000335475.5_Missense_Mutation_p.R274L	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	401					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle contraction (GO:0060048)|cardiovascular system development (GO:0072358)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|gene silencing (GO:0016458)|male gonad development (GO:0008584)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of insulin secretion (GO:0046676)|positive regulation of gastric acid secretion (GO:0060454)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	basolateral plasma membrane (GO:0016323)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)|zymogen granule membrane (GO:0042589)	calmodulin binding (GO:0005516)|delayed rectifier potassium channel activity (GO:0005251)|ion channel binding (GO:0044325)|outward rectifier potassium channel activity (GO:0015271)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|protein phosphatase 1 binding (GO:0008157)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)	p.R401L(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	AAGGCCCCCCGGAGCCACACT	0.642																																						uc001lwn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1201-1203)CGG>CTG		potassium voltage-gated channel, KQT-like	Bepridil(DB01244)|Indapamide(DB00808)						76.0	81.0	80.0					11																	2608873		2202	4299	6501	SO:0001583	missense	3784				blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding	g.chr11:2608873G>T	AF000571	CCDS7736.1	11p15.5	2014-09-17			ENSG00000053918	ENSG00000053918		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6294	protein-coding gene	gene with protein product	"""Jervell and Lange-Nielsen syndrome 1"""	607542		LQT, KCNA9		8528244, 16382104	Standard	NM_181798		Approved	Kv7.1, KCNA8, KVLQT1, JLNS1, LQT1	uc001lwn.3	P51787	OTTHUMG00000009900	ENST00000155840.5:c.1202G>T	11.37:g.2608873G>T	ENSP00000155840:p.Arg401Leu					KCNQ1_uc009ydp.1_Missense_Mutation_p.R185L|KCNQ1_uc001lwo.2_Missense_Mutation_p.R274L	p.R401L	NM_000218	NP_000209	P51787	KCNQ1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	9	1310	+		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)	401			Cytoplasmic (Potential).		O00347|O60607|O94787|Q14D14|Q7Z6G9|Q92960|Q9UMN8|Q9UMN9	Missense_Mutation	SNP	ENST00000155840.5	37	c.1202G>T	CCDS7736.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.586087	0.28268	.	.	ENSG00000053918	ENST00000155840;ENST00000335475	D;D	0.99277	-5.67;-5.59	4.68	4.68	0.58851	.	0.318671	0.29980	N	0.010702	D	0.97424	0.9157	L	0.40543	1.245	0.50467	D	0.999872	P;B;P	0.40050	0.579;0.444;0.7	B;B;B	0.39660	0.184;0.089;0.306	D	0.99253	1.0888	10	0.10636	T	0.68	-38.1179	15.4623	0.75369	0.0:0.0:1.0:0.0	.	274;274;401	P51787-2;Q14D14;P51787	.;.;KCNQ1_HUMAN	L	401;274	ENSP00000155840:R401L;ENSP00000334497:R274L	ENSP00000155840:R401L	R	+	2	0	KCNQ1	2565449	0.927000	0.31430	0.609000	0.28983	0.025000	0.11179	3.904000	0.56325	2.304000	0.77564	0.650000	0.86243	CGG		PASS	0.642	KCNQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027382.2	NM_000218		31	76	31	76	---	---	---	---
OR51B5	282763	broad.mit.edu	37	11	5364468	5364468	+	Missense_Mutation	SNP	A	A	G			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr11:5364468A>G	ENST00000300773.2	-	1	341	c.287T>C	c.(286-288)tTt>tCt	p.F96S	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	96					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F96S(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCTGGGAAAAGCAGGCCGC	0.552																																						uc001map.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(286-288)TTT>TCT		olfactory receptor, family 51, subfamily B,							44.0	42.0	43.0					11																	5364468		2201	4297	6498	SO:0001583	missense	282763				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5364468A>G	BK004430	CCDS31378.1	11p15.4	2012-08-09			ENSG00000242180	ENSG00000242180		"""GPCR / Class A : Olfactory receptors"""	19599	protein-coding gene	gene with protein product							Standard	NM_001005567		Approved		uc001maq.2	Q9H339	OTTHUMG00000066676	ENST00000300773.2:c.287T>C	11.37:g.5364468A>G	ENSP00000300773:p.Phe96Ser					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Missense_Mutation_p.F96S	p.F96S	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	287	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	96			Extracellular (Potential).		B2RN59	Missense_Mutation	SNP	ENST00000300773.2	37	c.287T>C	CCDS31378.1	.	.	.	.	.	.	.	.	.	.	A	18.05	3.537253	0.65085	.	.	ENSG00000242180	ENST00000300773	T	0.28255	1.62	4.76	4.76	0.60689	GPCR, rhodopsin-like superfamily (1);	0.183400	0.26207	N	0.025716	T	0.52108	0.1714	M	0.81179	2.53	0.09310	N	1	D	0.67145	0.996	D	0.65874	0.939	T	0.49934	-0.8886	10	0.87932	D	0	.	8.6339	0.33936	0.9097:0.0:0.0903:0.0	.	96	Q9H339	O51B5_HUMAN	S	96	ENSP00000300773:F96S	ENSP00000300773:F96S	F	-	2	0	OR51B5	5321044	0.220000	0.23631	0.942000	0.38095	0.963000	0.63663	4.495000	0.60353	2.017000	0.59298	0.529000	0.55759	TTT		PASS	0.552	OR51B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142975.1	NM_001005567		4	53	4	53	---	---	---	---
OR51I1	390063	broad.mit.edu	37	11	5462308	5462308	+	Missense_Mutation	SNP	A	A	G			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr11:5462308A>G	ENST00000380211.1	-	1	436	c.437T>C	c.(436-438)aTg>aCg	p.M146T	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	146					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M146T(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCCAGACCCATAGCCAATAT	0.483																																						uc010qze.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(436-438)ATG>ACG		olfactory receptor, family 51, subfamily I,							136.0	106.0	116.0					11																	5462308		2201	4297	6498	SO:0001583	missense	390063				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5462308A>G	BK004429	CCDS31382.1	11p15.4	2012-08-09			ENSG00000167359	ENSG00000167359		"""GPCR / Class A : Olfactory receptors"""	15200	protein-coding gene	gene with protein product							Standard	NM_001005288		Approved		uc010qze.2	Q9H343	OTTHUMG00000066908	ENST00000380211.1:c.437T>C	11.37:g.5462308A>G	ENSP00000369559:p.Met146Thr					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.M146T	NM_001005288	NP_001005288	Q9H343	O51I1_HUMAN		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	437	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	146			Helical; Name=4; (Potential).		B9EKW2|Q6IF33	Missense_Mutation	SNP	ENST00000380211.1	37	c.437T>C	CCDS31382.1	.	.	.	.	.	.	.	.	.	.	A	1.532	-0.544060	0.04024	.	.	ENSG00000167359	ENST00000317283;ENST00000321307;ENST00000380211	T	0.00058	8.79	5.74	2.02	0.26589	GPCR, rhodopsin-like superfamily (1);	0.195531	0.37261	N	0.002172	T	0.00144	0.0004	L	0.49640	1.575	0.21220	N	0.999756	B	0.02656	0.0	B	0.08055	0.003	T	0.37361	-0.9709	10	0.44086	T	0.13	.	5.7814	0.18308	0.6547:0.1313:0.214:0.0	.	146	Q9H343	O51I1_HUMAN	T	131;143;146	ENSP00000369559:M146T	ENSP00000348350:M131T	M	-	2	0	OR51I1	5418884	0.000000	0.05858	0.790000	0.31976	0.305000	0.27757	0.037000	0.13840	0.094000	0.17404	-0.382000	0.06688	ATG		PASS	0.483	OR51I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143399.1	NM_001005288		35	54	35	54	---	---	---	---
OR56B1	387748	broad.mit.edu	37	11	5758258	5758258	+	Missense_Mutation	SNP	T	T	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr11:5758258T>A	ENST00000317121.3	+	1	578	c.512T>A	c.(511-513)cTt>cAt	p.L171H	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	171						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L171H(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		GTGCCTGTGCTTGCAGCACAG	0.473																																						uc001mbt.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(511-513)CTT>CAT		olfactory receptor, family 56, subfamily B,							138.0	119.0	125.0					11																	5758258		2201	4297	6498	SO:0001583	missense	387748				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5758258T>A	BK004386	CCDS31395.1	11p15.4	2012-08-09		2004-03-10	ENSG00000181023	ENSG00000181023		"""GPCR / Class A : Olfactory receptors"""	15245	protein-coding gene	gene with protein product				OR56B1P			Standard	NM_001005180		Approved		uc001mbt.2	Q8NGI3	OTTHUMG00000066891	ENST00000317121.3:c.512T>A	11.37:g.5758258T>A	ENSP00000322939:p.Leu171His					TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron|OR56B1_uc001mbs.1_Missense_Mutation_p.L171H|OR56B1_uc009yev.1_Missense_Mutation_p.L171H	p.L171H	NM_001005180	NP_001005180	Q8NGI3	O56B1_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)	1	512	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)	171			Extracellular (Potential).		B2RNY6|B3KV42|Q6IF76	Missense_Mutation	SNP	ENST00000317121.3	37	c.512T>A	CCDS31395.1	.	.	.	.	.	.	.	.	.	.	T	13.55	2.271008	0.40194	.	.	ENSG00000181023	ENST00000317121	T	0.00174	8.62	5.7	5.7	0.88788	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37053	U	0.002262	T	0.00724	0.0024	M	0.89715	3.055	0.20196	N	0.999929	D	0.89917	1.0	D	0.83275	0.996	T	0.33777	-0.9855	10	0.87932	D	0	-10.7879	13.919	0.63919	0.0:0.0:0.0:1.0	.	171	Q8NGI3	O56B1_HUMAN	H	171	ENSP00000322939:L171H	ENSP00000322939:L171H	L	+	2	0	OR56B1	5714834	0.001000	0.12720	0.854000	0.33618	0.158000	0.22134	1.094000	0.30951	2.174000	0.68829	0.533000	0.62120	CTT		PASS	0.473	OR56B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143354.1	NM_001005180		42	84	42	84	---	---	---	---
OR52N4	390072	broad.mit.edu	37	11	5776678	5776678	+	Silent	SNP	G	G	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr11:5776678G>A	ENST00000317254.3	+	1	756	c.708G>A	c.(706-708)cgG>cgA	p.R236R	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R236R(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		CAGATGCTCGGCAGAAGGCCT	0.502																																						uc001mbu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(706-708)CGG>CGA		olfactory receptor, family 52, subfamily N,							181.0	174.0	177.0					11																	5776678		2100	4267	6367	SO:0001819	synonymous_variant	390072				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5776678G>A	AB065813	CCDS44528.1	11p15.4	2013-10-10	2013-10-10		ENSG00000181074	ENSG00000181074		"""GPCR / Class A : Olfactory receptors"""	15230	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily N, member 4"""				Standard	NM_001005175		Approved		uc001mbu.3	Q8NGI2	OTTHUMG00000066887	ENST00000317254.3:c.708G>A	11.37:g.5776678G>A						TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	p.R236R	NM_001005175	NP_001005175	Q8NGI2	O52N4_HUMAN		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)	1	756	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	236			Cytoplasmic (Potential).		B2RNP8|Q6IF77	Silent	SNP	ENST00000317254.3	37	c.708G>A	CCDS44528.1																																																																																				PASS	0.502	OR52N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143350.1	NM_001005175		66	113	66	113	---	---	---	---
NLRP14	338323	broad.mit.edu	37	11	7079556	7079556	+	Silent	SNP	T	T	C			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr11:7079556T>C	ENST00000299481.4	+	8	2854	c.2508T>C	c.(2506-2508)tcT>tcC	p.S836S		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	836					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)	p.S836S(1)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AGTATCTTTCTTTGGCTCTCA	0.453																																						uc001mfb.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8						c.(2506-2508)TCT>TCC		NLR family, pyrin domain containing 14							188.0	169.0	176.0					11																	7079556		2201	4296	6497	SO:0001819	synonymous_variant	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7079556T>C	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.2508T>C	11.37:g.7079556T>C							p.S836S	NM_176822	NP_789792	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	8	2831	+			836			LRR 4.		Q7RTR6	Silent	SNP	ENST00000299481.4	37	c.2508T>C	CCDS7776.1																																																																																				PASS	0.453	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		49	84	49	84	---	---	---	---
SBF2	81846	broad.mit.edu	37	11	9861056	9861056	+	Silent	SNP	T	T	C			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr11:9861056T>C	ENST00000256190.8	-	26	3581	c.3444A>G	c.(3442-3444)tcA>tcG	p.S1148S	RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1148	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.S1148S(1)		breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TCCGGCAGAGTGAATACATCC	0.443																																						uc001mib.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(3442-3444)TCA>TCG		SET binding factor 2							90.0	95.0	93.0					11																	9861056		2201	4294	6495	SO:0001819	synonymous_variant	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:9861056T>C	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.3444A>G	11.37:g.9861056T>C						SBF2_uc001mif.3_Silent_p.S904S|uc001mig.2_Intron	p.S1148S	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	26	3582	-			1148			Myotubularin phosphatase.		Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Silent	SNP	ENST00000256190.8	37	c.3444A>G	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	T	10.04	1.241029	0.22711	.	.	ENSG00000133812	ENST00000530741	.	.	.	5.48	-1.66	0.08265	.	.	.	.	.	T	0.38825	0.1055	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30707	-0.9969	4	.	.	.	.	0.7242	0.00946	0.1909:0.1967:0.2804:0.332	.	.	.	.	R	32	.	.	H	-	2	0	SBF2	9817632	0.897000	0.30589	0.997000	0.53966	0.983000	0.72400	-0.129000	0.10515	-0.112000	0.11979	0.529000	0.55759	CAC		PASS	0.443	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		67	130	67	130	---	---	---	---
PIK3C2A	5286	broad.mit.edu	37	11	17113137	17113137	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr11:17113137C>A	ENST00000265970.7	-	30	4708	c.4709G>T	c.(4708-4710)cGa>cTa	p.R1570L	PIK3C2A_ENST00000540361.1_Missense_Mutation_p.R1190L|PIK3C2A_ENST00000531428.1_5'UTR	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1570	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)	p.R1570L(1)		central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						AGTACCATTTCGGTAAGAGAT	0.383																																						uc001mmq.3																			1	Substitution - Missense(1)		lung(1)	lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10						c.(4708-4710)CGA>CTA		phosphoinositide-3-kinase, class 2 alpha	Phosphatidylserine(DB00144)						109.0	102.0	104.0					11																	17113137		2200	4294	6494	SO:0001583	missense	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17113137C>A	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.4709G>T	11.37:g.17113137C>A	ENSP00000265970:p.Arg1570Leu					PIK3C2A_uc009ygu.1_Missense_Mutation_p.R173L|PIK3C2A_uc010rcw.1_Missense_Mutation_p.R1190L|PIK3C2A_uc001mmr.3_Intron	p.R1570L	NM_002645	NP_002636	O00443	P3C2A_HUMAN			30	4775	-			1570			C2.		B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	37	c.4709G>T	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.956496	0.92726	.	.	ENSG00000011405	ENST00000265970;ENST00000540361	T;T	0.07908	3.15;3.15	5.31	5.31	0.75309	C2 calcium/lipid-binding domain, CaLB (1);	0.055932	0.64402	D	0.000002	T	0.17492	0.0420	N	0.17278	0.47	0.80722	D	1	D;D	0.89917	0.988;1.0	D;D	0.81914	0.937;0.995	T	0.09729	-1.0661	10	0.59425	D	0.04	-7.7146	19.0068	0.92854	0.0:1.0:0.0:0.0	.	1190;1570	F5H2B0;O00443	.;P3C2A_HUMAN	L	1570;1190	ENSP00000265970:R1570L;ENSP00000438687:R1190L	ENSP00000265970:R1570L	R	-	2	0	PIK3C2A	17069713	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.822000	0.62686	2.482000	0.83794	0.655000	0.94253	CGA		PASS	0.383	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		3	74	3	74	---	---	---	---
PIK3C2A	5286	broad.mit.edu	37	11	17153551	17153551	+	Missense_Mutation	SNP	G	G	C			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr11:17153551G>C	ENST00000265970.7	-	11	2142	c.2143C>G	c.(2143-2145)Cac>Gac	p.H715D	PIK3C2A_ENST00000540361.1_Missense_Mutation_p.H335D|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	715	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00041, ECO:0000255|PROSITE- ProRule:PRU00880}.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)	p.H715D(1)		central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						TTTCCATTGTGAGACAGTGAA	0.274																																						uc001mmq.3																			1	Substitution - Missense(1)		lung(1)	lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10						c.(2143-2145)CAC>GAC		phosphoinositide-3-kinase, class 2 alpha	Phosphatidylserine(DB00144)						92.0	96.0	95.0					11																	17153551		2200	4289	6489	SO:0001583	missense	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17153551G>C	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.2143C>G	11.37:g.17153551G>C	ENSP00000265970:p.His715Asp					PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Missense_Mutation_p.H335D|PIK3C2A_uc001mmr.3_Intron	p.H715D	NM_002645	NP_002636	O00443	P3C2A_HUMAN			11	2209	-			715					B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	37	c.2143C>G	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.892351	0.72524	.	.	ENSG00000011405	ENST00000265970;ENST00000540361	T;T	0.79247	-1.25;-1.25	5.81	3.93	0.45458	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (2);	0.091921	0.85682	D	0.000000	T	0.81384	0.4811	M	0.66939	2.045	0.80722	D	1	P	0.39311	0.667	P	0.48815	0.591	T	0.81638	-0.0842	10	0.87932	D	0	-4.5481	11.6885	0.51501	0.1366:0.0:0.8634:0.0	.	715	O00443	P3C2A_HUMAN	D	715;335	ENSP00000265970:H715D;ENSP00000438687:H335D	ENSP00000265970:H715D	H	-	1	0	PIK3C2A	17110127	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.395000	0.73228	0.789000	0.33779	0.650000	0.86243	CAC		PASS	0.274	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		22	142	22	142	---	---	---	---
LRRC4C	57689	broad.mit.edu	37	11	40136309	40136309	+	Missense_Mutation	SNP	T	T	C			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr11:40136309T>C	ENST00000278198.2	-	2	3497	c.1534A>G	c.(1534-1536)Ata>Gta	p.I512V	LRRC4C_ENST00000530763.1_Missense_Mutation_p.I512V|LRRC4C_ENST00000527150.1_Missense_Mutation_p.I512V|LRRC4C_ENST00000528697.1_Missense_Mutation_p.I512V			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	512					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)		p.I512V(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CCACTGTTTATATCAGTCACT	0.498																																						uc001mxa.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(3)|central_nervous_system(1)	8						c.(1534-1536)ATA>GTA		netrin-G1 ligand precursor							178.0	143.0	155.0					11																	40136309		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40136309T>C	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.1534A>G	11.37:g.40136309T>C	ENSP00000278198:p.Ile512Val					LRRC4C_uc001mxc.1_Missense_Mutation_p.I508V|LRRC4C_uc001mxd.1_Missense_Mutation_p.I508V|LRRC4C_uc001mxb.1_Missense_Mutation_p.I508V	p.I512V	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN			2	3498	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	512					A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.1534A>G	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.682746	0.00101	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	5.99	2.24	0.28232	.	0.426076	0.25878	N	0.027716	T	0.11024	0.0269	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36986	-0.9725	10	0.02654	T	1	.	6.1356	0.20230	0.0:0.1275:0.4534:0.4192	.	512	Q9HCJ2	LRC4C_HUMAN	V	512	ENSP00000278198:I512V;ENSP00000436976:I512V;ENSP00000437132:I512V;ENSP00000434761:I512V	ENSP00000278198:I512V	I	-	1	0	LRRC4C	40092885	0.006000	0.16342	0.287000	0.24848	0.903000	0.53119	-0.001000	0.12947	0.117000	0.18138	-0.313000	0.08912	ATA		PASS	0.498	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		29	67	29	67	---	---	---	---
OR4C6	219432	broad.mit.edu	37	11	55432843	55432843	+	Silent	SNP	G	G	A	rs191322588		TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr11:55432843G>A	ENST00000314259.3	+	1	230	c.201G>A	c.(199-201)ttG>ttA	p.L67L		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	67						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L67L(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TGTCCCTTTTGGATGTCATGT	0.448													g|||	1	0.000199681	0.0008	0.0	5008	,	,		19868	0.0		0.0	False		,,,				2504	0.0					uc001nht.3																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(199-201)TTG>TTA		olfactory receptor, family 4, subfamily C,							283.0	245.0	258.0					11																	55432843		2200	4296	6496	SO:0001819	synonymous_variant	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55432843G>A	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.201G>A	11.37:g.55432843G>A						OR4C6_uc010rik.1_Silent_p.L67L	p.L67L	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN			3	466	+			67			Helical; Name=2; (Potential).		B2RP11|Q6IFD2	Silent	SNP	ENST00000314259.3	37	c.201G>A	CCDS31506.1																																																																																				PASS	0.448	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		25	115	25	115	---	---	---	---
OR4C6	219432	broad.mit.edu	37	11	55433068	55433069	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr11:55433068_55433069GG>AT	ENST00000314259.3	+	1	455_456	c.426_427GG>AT	c.(424-429)atGGta>atATta	p.142_143MV>IL		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	142						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M142I(1)|p.M142_V143>IL(1)|p.V143L(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GCTGCCTAATGGTAGGAGGGGC	0.49																																						uc001nht.3																			3	Substitution - Missense(2)|Complex - compound substitution(1)		lung(3)	skin(2)	2						c.(424-426)ATG>ATA|c.(427-429)GTA>TTA		olfactory receptor, family 4, subfamily C,																																				SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433068G>A|g.chr11:55433069G>T	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	Exception_encountered	11.37:g.55433068_55433069delinsAT	ENSP00000324769:p.M142_V143delinsIL					OR4C6_uc010rik.1_Missense_Mutation_p.M142I|OR4C6_uc010rik.1_Missense_Mutation_p.V143L	p.M142I|p.V143L	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN			3	691|692	+			142|143			Helical; Name=4; (Potential).		B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.426G>A|c.427G>T	CCDS31506.1																																																																																				PASS	0.490	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		43|42	75	42	75	---	---	---	---
OR10W1	81341	broad.mit.edu	37	11	58034971	58034971	+	Silent	SNP	C	C	T	rs200368241	byFrequency	TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr11:58034971C>T	ENST00000395079.2	-	1	761	c.360G>A	c.(358-360)ccG>ccA	p.P120P		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P120P(1)		kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				GGTACTGCAACGGGTGGCAAA	0.532													t|||	4	0.000798722	0.0008	0.0014	5008	,	,		23338	0.0		0.0	False		,,,				2504	0.002					uc001nmq.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(358-360)CCG>CCA		olfactory receptor, family 10, subfamily W,		T		1,4401	2.1+/-5.4	0,1,2200	117.0	80.0	92.0		360	-11.6	0.0	11		92	2,8588	2.2+/-6.3	0,2,4293	no	coding-synonymous	OR10W1	NM_207374.3		0,3,6493	TT,TC,CC		0.0233,0.0227,0.0231		120/306	58034971	3,12989	2201	4295	6496	SO:0001819	synonymous_variant	81341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58034971C>T	AB065850	CCDS7968.1	11q12.1	2012-08-09	2004-03-04	2004-03-05		ENSG00000172772		"""GPCR / Class A : Olfactory receptors"""	15139	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily W, member 1 pseudogene"""	OR10W1P			Standard	NM_207374		Approved		uc001nmq.1	Q8NGF6		ENST00000395079.2:c.360G>A	11.37:g.58034971C>T							p.P120P	NM_207374	NP_997257	Q8NGF6	O10W1_HUMAN			1	762	-		Breast(21;0.0589)	120			Cytoplasmic (Potential).		A2RUD2|A8MTE1|Q6UXQ2	Silent	SNP	ENST00000395079.2	37	c.360G>A	CCDS7968.1																																																																																				PASS	0.532	OR10W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394704.1	NM_207374		9	41	9	41	---	---	---	---
TIGD3	220359	broad.mit.edu	37	11	65123817	65123817	+	Missense_Mutation	SNP	T	T	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr11:65123817T>A	ENST00000309880.5	+	2	745	c.538T>A	c.(538-540)Ttg>Atg	p.L180M		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	180	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L180M(1)		endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						TGAATTGCCCTTGCTGTATCG	0.602																																						uc001odo.3																			1	Substitution - Missense(1)		lung(1)		0						c.(538-540)TTG>ATG		tigger transposable element derived 3							121.0	128.0	126.0					11																	65123817		2201	4295	6496	SO:0001583	missense	220359				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr11:65123817T>A		CCDS8101.1	11q13.1	2008-07-21				ENSG00000173825			18334	protein-coding gene	gene with protein product							Standard	NM_145719		Approved		uc001odo.4	Q6B0B8		ENST00000309880.5:c.538T>A	11.37:g.65123817T>A	ENSP00000308354:p.Leu180Met						p.L180M	NM_145719	NP_663771	Q6B0B8	TIGD3_HUMAN			2	701	+			180			DDE.			Missense_Mutation	SNP	ENST00000309880.5	37	c.538T>A	CCDS8101.1	.	.	.	.	.	.	.	.	.	.	T	16.60	3.167318	0.57476	.	.	ENSG00000173825	ENST00000309880	T	0.28069	1.63	4.0	2.83	0.33086	.	0.000000	0.28641	N	0.014634	T	0.48169	0.1485	M	0.72894	2.215	0.26026	N	0.981809	D	0.76494	0.999	D	0.87578	0.998	T	0.30937	-0.9961	10	0.72032	D	0.01	-10.2263	5.6906	0.17827	0.0:0.1349:0.0:0.8651	.	180	Q6B0B8	TIGD3_HUMAN	M	180	ENSP00000308354:L180M	ENSP00000308354:L180M	L	+	1	2	TIGD3	64880393	0.998000	0.40836	1.000000	0.80357	0.951000	0.60555	0.596000	0.24044	0.697000	0.31718	0.374000	0.22700	TTG		PASS	0.602	TIGD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387310.1	NM_145719		34	180	34	180	---	---	---	---
CNIH2	254263	broad.mit.edu	37	11	66050605	66050605	+	Missense_Mutation	SNP	T	T	C			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr11:66050605T>C	ENST00000311445.6	+	4	556	c.298T>C	c.(298-300)Tac>Cac	p.Y100H	YIF1A_ENST00000526497.1_5'Flank|CNIH2_ENST00000528852.1_Missense_Mutation_p.Y100H|CNIH2_ENST00000530519.1_3'UTR	NM_182553.2	NP_872359.1	Q6PI25	CNIH2_HUMAN	cornichon family AMPA receptor auxiliary protein 2	100					intracellular signal transduction (GO:0035556)|localization within membrane (GO:0051668)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of membrane potential (GO:0042391)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)		p.Y100H(1)		endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5						CCTCCTCTTCTACCACCTCTG	0.612											OREG0021100	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001ohi.1																			1	Substitution - Missense(1)		lung(1)		0						c.(298-300)TAC>CAC		cornichon homolog 2							97.0	95.0	96.0					11																	66050605		2200	4295	6495	SO:0001583	missense	254263				intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|dendritic spine|endoplasmic reticulum membrane|postsynaptic density|postsynaptic membrane	protein binding	g.chr11:66050605T>C	BC047953	CCDS8131.1	11q13.2	2013-08-28	2013-08-28		ENSG00000174871	ENSG00000174871			28744	protein-coding gene	gene with protein product		611288	"""cornichon homolog 2 (Drosophila)"""			12477932	Standard	NM_182553		Approved	MGC50896, Cnil, CNIH-2	uc001ohi.2	Q6PI25	OTTHUMG00000166919	ENST00000311445.6:c.298T>C	11.37:g.66050605T>C	ENSP00000310003:p.Tyr100His		OREG0021100	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1088	CNIH2_uc001ohh.2_Missense_Mutation_p.Y100H|CNIH2_uc009yrb.1_RNA	p.Y100H	NM_182553	NP_872359	Q6PI25	CNIH2_HUMAN			4	530	+			100			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000311445.6	37	c.298T>C	CCDS8131.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.118850	0.77323	.	.	ENSG00000174871	ENST00000528852;ENST00000311445	T;T	0.56941	0.43;0.43	5.5	5.5	0.81552	.	0.182284	0.49916	D	0.000138	T	0.72906	0.3519	M	0.78344	2.41	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.76228	-0.3036	10	0.62326	D	0.03	-8.1819	14.8798	0.70522	0.0:0.0:0.0:1.0	.	100;100	Q6PI25;E9PS15	CNIH2_HUMAN;.	H	100	ENSP00000432177:Y100H;ENSP00000310003:Y100H	ENSP00000310003:Y100H	Y	+	1	0	CNIH2	65807181	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.627000	0.83176	2.220000	0.72140	0.460000	0.39030	TAC		PASS	0.612	CNIH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000391892.1	NM_182553		3	97	3	97	---	---	---	---
NUDT8	254552	broad.mit.edu	37	11	67396482	67396482	+	Missense_Mutation	SNP	C	C	G			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr11:67396482C>G	ENST00000376693.2	-	2	244	c.235G>C	c.(235-237)Gtg>Ctg	p.V79L	NUDT8_ENST00000301490.4_Missense_Mutation_p.V79L|RP11-655M14.13_ENST00000533311.1_lincRNA	NM_001243750.1	NP_001230679.1	Q8WV74	NUDT8_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 8	79	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.					mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.V79L(2)		endometrium(1)|lung(1)|prostate(1)|skin(1)	4						GCCGTGTGCACCACATCTTGG	0.642											OREG0021134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001omo.1																			2	Substitution - Missense(2)		lung(1)|endometrium(1)		0						c.(235-237)GTG>CTG		nudix-type motif 8							63.0	62.0	62.0					11																	67396482		2200	4294	6494	SO:0001583	missense	254552					mitochondrion	hydrolase activity|metal ion binding	g.chr11:67396482C>G	AI743601	CCDS8174.1, CCDS58151.1	11q13.2	2008-07-21			ENSG00000167799	ENSG00000167799		"""Nudix motif containing"""	8055	protein-coding gene	gene with protein product						11415433	Standard	NM_181843		Approved	FLJ41567	uc001omo.2	Q8WV74	OTTHUMG00000167292	ENST00000376693.2:c.235G>C	11.37:g.67396482C>G	ENSP00000365883:p.Val79Leu		OREG0021134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1099	NUDT8_uc001omn.2_Missense_Mutation_p.V79L	p.V79L	NM_181843	NP_862826	Q8WV74	NUDT8_HUMAN			2	254	-			79			Nudix box.|Nudix hydrolase.		Q6ZW59	Missense_Mutation	SNP	ENST00000376693.2	37	c.235G>C	CCDS58151.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.364776	0.61513	.	.	ENSG00000167799	ENST00000301490;ENST00000376693	T;T	0.07021	3.23;3.23	4.77	3.84	0.44239	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.156561	0.43110	D	0.000601	T	0.04907	0.0132	N	0.21508	0.67	0.46011	D	0.998814	B;B	0.31026	0.304;0.009	B;B	0.26310	0.068;0.06	T	0.41662	-0.9496	10	0.11485	T	0.65	-12.921	9.2009	0.37258	0.0:0.895:0.0:0.105	.	79;79	Q8WV74;Q8WV74-2	NUDT8_HUMAN;.	L	79	ENSP00000301490:V79L;ENSP00000365883:V79L	ENSP00000301490:V79L	V	-	1	0	NUDT8	67153058	0.859000	0.29813	0.999000	0.59377	0.815000	0.46073	1.157000	0.31724	0.978000	0.38470	0.561000	0.74099	GTG		PASS	0.642	NUDT8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394036.1	NM_181843		7	100	7	100	---	---	---	---
CLPB	81570	broad.mit.edu	37	11	72091393	72091393	+	Missense_Mutation	SNP	G	G	C			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr11:72091393G>C	ENST00000294053.3	-	4	751	c.578C>G	c.(577-579)cCa>cGa	p.P193R	CLPB_ENST00000543042.1_Missense_Mutation_p.P22R|CLPB_ENST00000445069.2_Missense_Mutation_p.P89R|CLPB_ENST00000538039.1_Missense_Mutation_p.P193R|CLPB_ENST00000340729.5_Missense_Mutation_p.P164R|CLPB_ENST00000437826.2_Missense_Mutation_p.P148R	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	193					cellular response to heat (GO:0034605)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)	p.P193R(1)		endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						TCCAAGGTTTGGATCAGCCCC	0.488																																						uc001osj.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(577-579)CCA>CGA		caseinolytic peptidase B							106.0	94.0	98.0					11																	72091393		2200	4293	6493	SO:0001583	missense	81570				cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr11:72091393G>C	BC006404	CCDS8215.1, CCDS58152.1, CCDS58153.1, CCDS58154.1	11q13.4	2013-01-10			ENSG00000162129	ENSG00000162129		"""Ankyrin repeat domain containing"""	30664	protein-coding gene	gene with protein product	"""suppressor of potassium transport defect 3"""					11230166, 7835694	Standard	NM_030813		Approved	HSP78, SKD3, FLJ13152	uc010rqy.3	Q9H078	OTTHUMG00000167902	ENST00000294053.3:c.578C>G	11.37:g.72091393G>C	ENSP00000294053:p.Pro193Arg					CLPB_uc010rqx.1_Missense_Mutation_p.P148R|CLPB_uc010rqy.1_Missense_Mutation_p.P164R|CLPB_uc001osk.2_Missense_Mutation_p.P193R|CLPB_uc009ytg.2_RNA|CLPB_uc010rqz.1_Missense_Mutation_p.P22R	p.P193R	NM_030813	NP_110440	Q9H078	CLPB_HUMAN			4	628	-			193			ANK 2.		B4DXJ7|B4DXP7|E7EWN6|F8W7P6|Q8ND11|Q9H8Y0	Missense_Mutation	SNP	ENST00000294053.3	37	c.578C>G	CCDS8215.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.145919	0.77888	.	.	ENSG00000162129	ENST00000294053;ENST00000538039;ENST00000535990;ENST00000340729;ENST00000437826;ENST00000543042;ENST00000544683;ENST00000539148	T;T;T;T;T;T;T;T	0.66995	1.31;0.49;-0.24;1.31;-0.24;-0.16;0.49;-0.24	5.89	5.89	0.94794	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.81465	0.4828	M	0.72479	2.2	0.58432	D	0.99999	D;D;D;D;D	0.89917	0.997;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.969;0.991;0.995;0.991;1.0	T	0.82129	-0.0610	10	0.66056	D	0.02	-8.0992	16.9895	0.86349	0.0:0.0:1.0:0.0	.	22;164;148;193;193	B4DXW4;F8W7P6;E7EWN6;Q9H078-2;Q9H078	.;.;.;.;CLPB_HUMAN	R	193;193;198;164;148;22;47;47	ENSP00000294053:P193R;ENSP00000441518:P193R;ENSP00000443822:P198R;ENSP00000340385:P164R;ENSP00000407296:P148R;ENSP00000439746:P22R;ENSP00000442651:P47R;ENSP00000445327:P47R	ENSP00000294053:P193R	P	-	2	0	CLPB	71769041	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	8.038000	0.88943	2.793000	0.96121	0.561000	0.74099	CCA		PASS	0.488	CLPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396889.1	NM_030813		5	57	5	57	---	---	---	---
MYO7A	4647	broad.mit.edu	37	11	76893063	76893063	+	Nonsense_Mutation	SNP	G	G	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr11:76893063G>T	ENST00000409709.3	+	24	3243	c.2971G>T	c.(2971-2973)Gag>Tag	p.E991*	MYO7A_ENST00000458637.2_Nonsense_Mutation_p.E991*|MYO7A_ENST00000409893.1_Nonsense_Mutation_p.E991*|MYO7A_ENST00000409619.2_Nonsense_Mutation_p.E980*	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	991					actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)	p.E991*(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCTGCCTGACGAGGATGAGGA	0.607																																						uc001oyb.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|breast(1)	4						c.(2971-2973)GAG>TAG		myosin VIIA isoform 1							62.0	76.0	71.0					11																	76893063		2127	4212	6339	SO:0001587	stop_gained	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76893063G>T	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.2971G>T	11.37:g.76893063G>T	ENSP00000386331:p.Glu991*					MYO7A_uc010rsl.1_Nonsense_Mutation_p.E991*|MYO7A_uc010rsm.1_Nonsense_Mutation_p.E980*|MYO7A_uc001oyc.2_Nonsense_Mutation_p.E991*|MYO7A_uc001oyd.2_Nonsense_Mutation_p.E331*|MYO7A_uc009yus.1_RNA|MYO7A_uc009yut.1_Nonsense_Mutation_p.E202*	p.E991*	NM_000260	NP_000251	Q13402	MYO7A_HUMAN			24	3243	+			991					B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Nonsense_Mutation	SNP	ENST00000409709.3	37	c.2971G>T	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	.	37	5.987462	0.97173	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000343419;ENST00000458169	.	.	.	5.15	5.15	0.70609	.	0.059139	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	18.6347	0.91372	0.0:0.0:1.0:0.0	.	.	.	.	X	991;991;991;980;202;990;990;867;990;172	.	ENSP00000345075:E867X	E	+	1	0	MYO7A	76570711	1.000000	0.71417	0.798000	0.32154	0.958000	0.62258	9.465000	0.97660	2.396000	0.81511	0.549000	0.68633	GAG		PASS	0.607	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		19	116	19	116	---	---	---	---
DLG2	1740	broad.mit.edu	37	11	83497769	83497769	+	Missense_Mutation	SNP	G	G	C			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr11:83497769G>C	ENST00000532653.1	-	13	1776	c.1474C>G	c.(1474-1476)Cag>Gag	p.Q492E	DLG2_ENST00000537455.1_Missense_Mutation_p.Q246E|DLG2_ENST00000398309.2_Missense_Mutation_p.Q492E|DLG2_ENST00000531015.1_Missense_Mutation_p.Q459E|DLG2_ENST00000524982.1_Missense_Mutation_p.Q492E|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000280241.8_Missense_Mutation_p.Q531E|DLG2_ENST00000543673.1_Missense_Mutation_p.Q597E|DLG2_ENST00000418306.2_Missense_Mutation_p.Q389E|DLG2_ENST00000330014.6_Missense_Mutation_p.Q431E|DLG2_ENST00000398301.2_Missense_Mutation_p.Q531E|DLG2_ENST00000376104.2_Missense_Mutation_p.Q597E			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	233	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)	p.Q492E(1)|p.Q389E(1)|p.Q597E(1)|p.Q531E(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GTCACTGTCTGTCCAGCCCCC	0.468																																						uc001paj.2																			4	Substitution - Missense(4)		lung(4)	ovary(3)|pancreas(2)|skin(1)	6						c.(1474-1476)CAG>GAG		chapsyn-110 isoform 2							97.0	94.0	95.0					11																	83497769		1976	4184	6160	SO:0001583	missense	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding	g.chr11:83497769G>C	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.1474C>G	11.37:g.83497769G>C	ENSP00000435849:p.Gln492Glu					DLG2_uc001pai.2_Missense_Mutation_p.Q389E|DLG2_uc010rsy.1_Missense_Mutation_p.Q459E|DLG2_uc010rsz.1_Missense_Mutation_p.Q492E|DLG2_uc010rta.1_Missense_Mutation_p.Q492E|DLG2_uc001pak.2_Missense_Mutation_p.Q597E|DLG2_uc010rtb.1_Missense_Mutation_p.Q459E|DLG2_uc001pal.1_Missense_Mutation_p.Q492E|DLG2_uc001pam.1_Missense_Mutation_p.Q531E	p.Q492E	NM_001364	NP_001355	Q15700	DLG2_HUMAN			13	1777	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	492			PDZ 3.		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000532653.1	37	c.1474C>G		.	.	.	.	.	.	.	.	.	.	G	21.7	4.184778	0.78677	.	.	ENSG00000150672	ENST00000398309;ENST00000376104;ENST00000418306;ENST00000543673;ENST00000280241;ENST00000330014;ENST00000537455;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000531015;ENST00000398301	T;T;T;T;T;T;T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79	5.59	5.59	0.84812	PDZ/DHR/GLGF (4);	0.000000	0.64402	D	0.000002	T	0.20861	0.0502	N	0.04686	-0.185	0.80722	D	1	P;B;B;B;P;P;B;P	0.46220	0.852;0.037;0.022;0.001;0.863;0.874;0.033;0.554	P;B;B;B;P;B;B;B	0.48873	0.55;0.074;0.088;0.016;0.593;0.442;0.155;0.301	T	0.10800	-1.0614	9	.	.	.	.	18.3632	0.90382	0.0:0.0:1.0:0.0	.	459;492;492;431;531;597;492;389	E9PIW2;B7Z2T4;E9PN83;B7Z264;Q6ZSU2;Q15700-2;Q15700;Q15700-3	.;.;.;.;.;.;DLG2_HUMAN;.	E	492;597;389;597;531;431;246;492;492;597;459;531	ENSP00000381355:Q492E;ENSP00000365272:Q597E;ENSP00000402275:Q389E;ENSP00000441994:Q597E;ENSP00000280241:Q531E;ENSP00000381353:Q431E;ENSP00000443248:Q246E;ENSP00000432894:Q492E;ENSP00000435849:Q492E;ENSP00000433848:Q459E;ENSP00000381346:Q531E	.	Q	-	1	0	DLG2	83175417	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.006000	0.93592	2.614000	0.88457	0.650000	0.86243	CAG		PASS	0.468	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364		10	87	10	87	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92616485	92616485	+	Missense_Mutation	SNP	A	A	C			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr11:92616485A>C	ENST00000298047.6	+	23	12880	c.12863A>C	c.(12862-12864)aAc>aCc	p.N4288T	FAT3_ENST00000533797.1_Missense_Mutation_p.N623T|FAT3_ENST00000489716.1_3'UTR|FAT3_ENST00000525166.1_Missense_Mutation_p.N4138T|FAT3_ENST00000409404.2_Missense_Mutation_p.N4288T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4288					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N4288T(4)|p.N863T(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTGGCCCCCAACCTCCCCGCC	0.657										TCGA Ovarian(4;0.039)																												uc001pdj.3																			6	Substitution - Missense(6)		lung(3)|kidney(3)	ovary(4)|pancreas(1)	5						c.(12862-12864)AAC>ACC		FAT tumor suppressor homolog 3							23.0	28.0	27.0					11																	92616485		2081	4183	6264	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92616485A>C	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.12863A>C	11.37:g.92616485A>C	ENSP00000298047:p.Asn4288Thr	TCGA Ovarian(4;0.039)				FAT3_uc001pdi.3_Missense_Mutation_p.N728T	p.N4288T	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			23	12880	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	4288			Cytoplasmic (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.12863A>C		.	.	.	.	.	.	.	.	.	.	A	16.63	3.177419	0.57692	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;D	0.89196	-1.11;-1.11;-1.12;-2.48	5.64	5.64	0.86602	.	.	.	.	.	D	0.89726	0.6798	M	0.72353	2.195	0.80722	D	1	P;P	0.48294	0.908;0.889	P;B	0.45753	0.492;0.348	D	0.89114	0.3498	9	0.35671	T	0.21	.	15.8571	0.78987	1.0:0.0:0.0:0.0	.	4288;4288	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	T	4288;4288;4138;623	ENSP00000298047:N4288T;ENSP00000387040:N4288T;ENSP00000432586:N4138T;ENSP00000436399:N623T	ENSP00000298047:N4288T	N	+	2	0	FAT3	92256133	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.319000	0.79040	2.149000	0.67028	0.533000	0.62120	AAC		PASS	0.657	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		6	44	6	44	---	---	---	---
NPAT	4863	broad.mit.edu	37	11	108042941	108042941	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr11:108042941G>A	ENST00000278612.8	-	13	2875	c.2770C>T	c.(2770-2772)Cca>Tca	p.P924S	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	924					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.P924S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		GAAAAGTTTGGTGACACAGCT	0.393																																						uc001pjz.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2770-2772)CCA>TCA		nuclear protein,  ataxia-telangiectasia locus							195.0	178.0	183.0					11																	108042941		1917	4121	6038	SO:0001583	missense	4863				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr11:108042941G>A	X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.2770C>T	11.37:g.108042941G>A	ENSP00000278612:p.Pro924Ser					NPAT_uc010rvv.1_5'Flank|NPAT_uc001pka.2_Missense_Mutation_p.P719S	p.P924S	NM_002519	NP_002510	Q14207	NPAT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)	13	2872	-		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	924					A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Missense_Mutation	SNP	ENST00000278612.8	37	c.2770C>T	CCDS41710.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.900605	0.72754	.	.	ENSG00000149308	ENST00000278612	T	0.05139	3.49	5.82	5.82	0.92795	.	0.069339	0.64402	D	0.000016	T	0.27241	0.0668	M	0.72894	2.215	0.52099	D	0.999943	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.00097	-1.2071	10	0.66056	D	0.02	-13.7915	20.1054	0.97890	0.0:0.0:1.0:0.0	.	924;924	B9EG70;Q14207	.;NPAT_HUMAN	S	924	ENSP00000278612:P924S	ENSP00000278612:P924S	P	-	1	0	NPAT	107548151	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.241000	0.78201	2.757000	0.94681	0.655000	0.94253	CCA		PASS	0.393	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519		14	151	14	151	---	---	---	---
VWF	7450	broad.mit.edu	37	12	6172175	6172175	+	Missense_Mutation	SNP	C	C	G			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr12:6172175C>G	ENST00000261405.5	-	13	1732	c.1478G>C	c.(1477-1479)aGc>aCc	p.S493T		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	493	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.S493N(1)|p.S493T(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTCCCCGTAGCTGAGGCGCAC	0.667											OREG0021618	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001qnn.1																			2	Substitution - Missense(2)		lung(2)	skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12						c.(1477-1479)AGC>ACC		von Willebrand factor preproprotein	Antihemophilic Factor(DB00025)						58.0	46.0	50.0					12																	6172175		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6172175C>G		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.1478G>C	12.37:g.6172175C>G	ENSP00000261405:p.Ser493Thr		OREG0021618	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	632	VWF_uc010set.1_Missense_Mutation_p.S493T	p.S493T	NM_000552	NP_000543	P04275	VWF_HUMAN			13	1728	-			493			VWFD 2.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.1478G>C	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	C	2.883	-0.231325	0.05983	.	.	ENSG00000110799	ENST00000261405	T	0.59906	0.23	4.88	1.9	0.25705	von Willebrand factor, type D domain (3);	0.144445	0.32444	N	0.006082	T	0.33440	0.0863	N	0.10945	0.07	0.80722	D	1	B;B	0.18310	0.001;0.027	B;B	0.29942	0.008;0.109	T	0.03739	-1.1008	10	0.20519	T	0.43	.	6.0555	0.19809	0.0:0.5393:0.2751:0.1856	.	493;493	B4DNX0;P04275	.;VWF_HUMAN	T	493	ENSP00000261405:S493T	ENSP00000261405:S493T	S	-	2	0	VWF	6042436	0.984000	0.35163	1.000000	0.80357	0.142000	0.21351	0.071000	0.14594	0.777000	0.33496	-0.137000	0.14449	AGC		PASS	0.667	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		14	67	14	67	---	---	---	---
ACRBP	84519	broad.mit.edu	37	12	6756072	6756072	+	Silent	SNP	C	C	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr12:6756072C>T	ENST00000229243.2	-	2	243	c.150G>A	c.(148-150)ctG>ctA	p.L50L	ACRBP_ENST00000536350.1_Silent_p.L50L|ACRBP_ENST00000414226.2_Silent_p.L50L	NM_032489.2	NP_115878.2			acrosin binding protein									p.L50L(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						AGGTTGGAGTCAGCAGTGCGA	0.607																																						uc001qpu.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(148-150)CTG>CTA		proacrosin binding protein sp32 precursor							109.0	101.0	104.0					12																	6756072		2203	4300	6503	SO:0001819	synonymous_variant	84519					acrosomal vesicle|extracellular region		g.chr12:6756072C>T	AB051833	CCDS8554.1	12p13.31	2009-03-12			ENSG00000111644	ENSG00000111644			17195	protein-coding gene	gene with protein product	"""proacrosin binding protein sp32"", ""cancer/testis antigen 23"""	608352				11248070	Standard	NM_032489		Approved	SP32, OY-TES-1, CT23	uc001qpu.1	Q8NEB7	OTTHUMG00000168715	ENST00000229243.2:c.150G>A	12.37:g.6756072C>T						ACRBP_uc010sfg.1_Silent_p.L50L	p.L50L	NM_032489	NP_115878	Q8NEB7	ACRBP_HUMAN			2	198	-			50						Silent	SNP	ENST00000229243.2	37	c.150G>A	CCDS8554.1																																																																																				PASS	0.607	ACRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400703.1	NM_032489		55	88	55	88	---	---	---	---
CD163	9332	broad.mit.edu	37	12	7639173	7639173	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr12:7639173G>T	ENST00000359156.4	-	10	2582	c.2380C>A	c.(2380-2382)Cgc>Agc	p.R794S	CD163_ENST00000539632.1_5'Flank|CD163_ENST00000396620.3_Missense_Mutation_p.R827S|CD163_ENST00000541972.1_Missense_Mutation_p.R782S|CD163_ENST00000432237.2_Missense_Mutation_p.R794S	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	794	SRCR 7. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.R794S(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	TGCCAAATGCGGGATTCTTTT	0.507																																						uc001qsz.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|pancreas(1)|skin(1)	8						c.(2380-2382)CGC>AGC		CD163 antigen isoform a							146.0	147.0	147.0					12																	7639173		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7639173G>T	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.2380C>A	12.37:g.7639173G>T	ENSP00000352071:p.Arg794Ser					CD163_uc001qta.3_Missense_Mutation_p.R794S|CD163_uc009zfw.2_Missense_Mutation_p.R827S	p.R794S	NM_004244	NP_004235	Q86VB7	C163A_HUMAN			10	2508	-			794			SRCR 7.|Extracellular (Potential).		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.2380C>A	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.939789	0.34189	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.54	5.54	0.83059	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	0.991549	0.08214	N	0.980194	T	0.13884	0.0336	N	0.00256	-1.76	0.09310	N	1	B;B;B	0.24258	0.059;0.003;0.1	B;B;B	0.21917	0.037;0.005;0.037	T	0.08617	-1.0713	10	0.20046	T	0.44	.	10.7458	0.46179	0.0867:0.0:0.9133:0.0	.	827;794;794	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	S	794;782;827;794	ENSP00000352071:R794S;ENSP00000444071:R782S;ENSP00000379863:R827S;ENSP00000403885:R794S	ENSP00000352071:R794S	R	-	1	0	CD163	7530440	0.000000	0.05858	0.388000	0.26195	0.837000	0.47467	-0.131000	0.10482	2.776000	0.95493	0.650000	0.86243	CGC		PASS	0.507	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		11	360	11	360	---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	13716959	13716959	+	Silent	SNP	C	C	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr12:13716959C>T	ENST00000609686.1	-	13	3422	c.3213G>A	c.(3211-3213)ggG>ggA	p.G1071G		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1071					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.G1071G(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCTCGATGTTCCCATAGGTGA	0.567																																						uc001rbt.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.(3211-3213)GGG>GGA		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						59.0	52.0	54.0					12																	13716959		2203	4300	6503	SO:0001819	synonymous_variant	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13716959C>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.3213G>A	12.37:g.13716959C>T							p.G1071G	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			13	3392	-			1071			Cytoplasmic (Potential).		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	ENST00000609686.1	37	c.3213G>A	CCDS8662.1																																																																																				PASS	0.567	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			28	52	28	52	---	---	---	---
ARHGDIB	397	broad.mit.edu	37	12	15095561	15095562	+	Missense_Mutation	DNP	CA	CA	AG			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr12:15095561_15095562CA>AG	ENST00000228945.4	-	6	644_645	c.500_501TG>CT	c.(499-501)cTG>cCT	p.L167P	ARHGDIB_ENST00000539131.1_5'UTR|ARHGDIB_ENST00000541644.1_Missense_Mutation_p.L167P|ARHGDIB_ENST00000541546.1_Missense_Mutation_p.L167P	NM_001175.4	NP_001166.3	P52566	GDIR2_HUMAN	Rho GDP dissociation inhibitor (GDI) beta	167					actin cytoskeleton organization (GO:0030036)|cellular component movement (GO:0006928)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|negative regulation of cell adhesion (GO:0007162)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	GTPase activator activity (GO:0005096)|Rho GDP-dissociation inhibitor activity (GO:0005094)	p.L167P(2)|p.L167L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	15						TGCCTCGCGCCAGCATGCCCTT	0.53																																						uc001rcq.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)		0						c.(499-501)CTG>CTT|c.(499-501)CTG>CCG		Rho GDP dissociation inhibitor (GDI) beta																																				SO:0001583	missense	397				actin cytoskeleton organization|cellular component movement|immune response|multicellular organismal development|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoplasmic membrane-bounded vesicle|cytoskeleton|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity	g.chr12:15095561C>A|g.chr12:15095562A>G	L07916	CCDS8671.1	12p12.3	2014-01-30				ENSG00000111348		"""Endogenous ligands"""	679	protein-coding gene	gene with protein product		602843		RAP1GN1, GDIA2, GDID4		8434008, 8356058	Standard	NM_001175		Approved	Ly-GDI, RhoGDI2	uc001rcq.1	P52566		ENST00000228945.4:c.500_501delinsAG	12.37:g.15095561_15095562delinsAG	ENSP00000228945:p.Leu167Pro					ARHGDIB_uc001rcp.1_RNA	p.L167L|p.L167P	NM_001175	NP_001166	P52566	GDIR2_HUMAN			6	605|604	-			167					B5BU79	Silent|Missense_Mutation	SNP	ENST00000228945.4	37	c.501G>T|c.500T>C	CCDS8671.1																																																																																				PASS	0.530	ARHGDIB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400871.1	NM_001175		50	188|187	50	187	---	---	---	---
METTL7B	196410	broad.mit.edu	37	12	56075807	56075807	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr12:56075807C>A	ENST00000394252.3	+	1	478	c.269C>A	c.(268-270)cCg>cAg	p.P90Q		NM_152637.2	NP_689850.2	Q6UX53	MET7B_HUMAN	methyltransferase like 7B	90							methyltransferase activity (GO:0008168)	p.P90Q(1)|p.P40Q(1)		kidney(1)|large_intestine(1)|lung(4)	6						TTCTACCCACCGGGCTGCAGG	0.567																																						uc010spr.1																			2	Substitution - Missense(2)		lung(2)		0						c.(268-270)CCG>CAG		methyltransferase like 7B precursor							65.0	61.0	63.0					12																	56075807		2203	4300	6503	SO:0001583	missense	196410						methyltransferase activity	g.chr12:56075807C>A		CCDS8887.2	12q13.2	2012-06-12			ENSG00000170439	ENSG00000170439			28276	protein-coding gene	gene with protein product	"""associated with lipid droplets 1"""					17004324	Standard	NM_152637		Approved	MGC17301, ALDI	uc010spr.2	Q6UX53	OTTHUMG00000152665	ENST00000394252.3:c.269C>A	12.37:g.56075807C>A	ENSP00000377796:p.Pro90Gln						p.P90Q	NM_152637	NP_689850	Q6UX53	MET7B_HUMAN			1	478	+			90					A8K247|Q8WUI1	Missense_Mutation	SNP	ENST00000394252.3	37	c.269C>A	CCDS8887.2	.	.	.	.	.	.	.	.	.	.	C	12.27	1.888515	0.33348	.	.	ENSG00000170439	ENST00000394252	T	0.55930	0.49	4.96	2.12	0.27331	Methyltransferase type 11 (1);	0.826748	0.10899	N	0.621792	T	0.47248	0.1435	L	0.48218	1.51	0.09310	N	1	B	0.25609	0.13	B	0.35931	0.214	T	0.47736	-0.9094	10	0.45353	T	0.12	-23.8481	5.4589	0.16606	0.1444:0.6364:0.1396:0.0795	.	90	Q6UX53	MET7B_HUMAN	Q	90	ENSP00000377796:P90Q	ENSP00000377796:P90Q	P	+	2	0	METTL7B	54362074	0.000000	0.05858	0.003000	0.11579	0.967000	0.64934	0.191000	0.17076	0.266000	0.21894	0.655000	0.94253	CCG		PASS	0.567	METTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327271.1	NM_152637		17	50	17	50	---	---	---	---
ITGA7	3679	broad.mit.edu	37	12	56094858	56094858	+	Silent	SNP	C	C	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr12:56094858C>T	ENST00000555728.1	-	4	523	c.495G>A	c.(493-495)gtG>gtA	p.V165V	ITGA7_ENST00000553804.1_Silent_p.V165V|ITGA7_ENST00000257879.6_Silent_p.V165V|ITGA7_ENST00000257880.7_Silent_p.V165V|ITGA7_ENST00000394229.2_Silent_p.V165V|ITGA7_ENST00000347027.6_Silent_p.V165V|ITGA7_ENST00000452168.2_Silent_p.V68V|ITGA7_ENST00000394230.2_Silent_p.V165V			Q13683	ITA7_HUMAN	integrin, alpha 7	165					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)	p.V165V(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CCTGGCTGAGCACAAAGCAGC	0.592																																						uc001shh.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(493-495)GTG>GTA		integrin alpha 7 isoform 1 precursor							126.0	109.0	115.0					12																	56094858		2203	4300	6503	SO:0001819	synonymous_variant	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56094858C>T		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.495G>A	12.37:g.56094858C>T						ITGA7_uc001shg.2_Silent_p.V165V|ITGA7_uc010sps.1_Silent_p.V68V|ITGA7_uc009znx.2_Silent_p.V52V	p.V165V	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN			4	715	-			165			FG-GAP 2.|Extracellular (Potential).		B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Silent	SNP	ENST00000555728.1	37	c.495G>A																																																																																					PASS	0.592	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		24	66	24	66	---	---	---	---
CCDC38	120935	broad.mit.edu	37	12	96300166	96300166	+	Splice_Site	SNP	T	T	C			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr12:96300166T>C	ENST00000344280.3	-	5	925	c.368A>G	c.(367-369)gAg>gGg	p.E123G		NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	123								p.E123G(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TTTTACTACCTCGAGCAGAAA	0.363																																						uc001tek.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(367-369)GAG>GGG		coiled-coil domain containing 38							76.0	73.0	74.0					12																	96300166		2203	4300	6503	SO:0001630	splice_region_variant	120935							g.chr12:96300166T>C	AK097408	CCDS9056.1	12q23.1	2005-11-02				ENSG00000165972			26843	protein-coding gene	gene with protein product							Standard	NM_182496		Approved	FLJ40089	uc001tek.2	Q502W7	OTTHUMG00000170352	ENST00000344280.3:c.369+1A>G	12.37:g.96300166T>C							p.E123G	NM_182496	NP_872302	Q502W7	CCD38_HUMAN			5	602	-			123					Q8N835	Missense_Mutation	SNP	ENST00000344280.3	37	c.368A>G	CCDS9056.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.982075	0.74474	.	.	ENSG00000165972	ENST00000344280	T	0.18657	2.2	4.98	4.98	0.66077	.	0.108390	0.64402	D	0.000008	T	0.44582	0.1300	M	0.79475	2.455	0.80722	D	1	D	0.63880	0.993	D	0.68765	0.96	T	0.44360	-0.9333	10	0.66056	D	0.02	-17.8699	10.9763	0.47467	0.0:0.0:0.0:1.0	.	123	Q502W7	CCD38_HUMAN	G	123	ENSP00000345470:E123G	ENSP00000345470:E123G	E	-	2	0	CCDC38	94824297	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	3.432000	0.52824	2.093000	0.63338	0.459000	0.35465	GAG		PASS	0.363	CCDC38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408634.1	NM_182496	Missense_Mutation	11	48	11	48	---	---	---	---
IGF1	3479	broad.mit.edu	37	12	102813396	102813396	+	Missense_Mutation	SNP	C	C	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr12:102813396C>T	ENST00000307046.8	-	3	474	c.293G>A	c.(292-294)cGg>cAg	p.R98Q	IGF1_ENST00000456098.1_Missense_Mutation_p.R98Q|IGF1_ENST00000392904.1_Missense_Mutation_p.R98Q|IGF1_ENST00000424202.2_Missense_Mutation_p.R82Q|IGF1_ENST00000337514.6_Missense_Mutation_p.R98Q	NM_001111285.1	NP_001104755.1	P05019	IGF1_HUMAN	insulin-like growth factor 1 (somatomedin C)	98	A.				blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|bone mineralization involved in bone maturation (GO:0035630)|branching morphogenesis of an epithelial tube (GO:0048754)|cell activation (GO:0001775)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|DNA replication (GO:0006260)|exocrine pancreas development (GO:0031017)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|glial cell differentiation (GO:0010001)|glycolate metabolic process (GO:0009441)|inner ear development (GO:0048839)|insulin-like growth factor receptor signaling pathway (GO:0048009)|lung alveolus development (GO:0048286)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|mammary gland development (GO:0030879)|multicellular organism growth (GO:0035264)|muscle hypertrophy (GO:0014896)|muscle organ development (GO:0007517)|myoblast differentiation (GO:0045445)|myoblast proliferation (GO:0051450)|myotube cell development (GO:0014904)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate gland growth (GO:0060736)|prostate gland stromal morphogenesis (GO:0060741)|proteoglycan biosynthetic process (GO:0030166)|Ras protein signal transduction (GO:0007265)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of multicellular organism growth (GO:0040014)|signal transduction (GO:0007165)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|skeletal system development (GO:0001501)|Type I pneumocyte differentiation (GO:0060509)|Type II pneumocyte differentiation (GO:0060510)|water homeostasis (GO:0030104)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|insulin-like growth factor binding protein complex (GO:0016942)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	hormone activity (GO:0005179)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|integrin binding (GO:0005178)	p.R98Q(2)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)	11						ATCACAGCTCCGGAAGCAGCA	0.597																																						uc001tjp.3																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)|pancreas(1)	2						c.(292-294)CGG>CAG		insulin-like growth factor 1 isoform 3							93.0	80.0	85.0					12																	102813396		2203	4300	6503	SO:0001583	missense	3479				anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|DNA replication|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of activated T cell proliferation|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of Ras protein signal transduction|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|Ras protein signal transduction|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration	platelet alpha granule lumen	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding	g.chr12:102813396C>T	X00173	CCDS9091.1, CCDS44960.1, CCDS44961.1, CCDS44962.1	12q23.2	2014-09-16			ENSG00000017427	ENSG00000017427		"""Endogenous ligands"""	5464	protein-coding gene	gene with protein product		147440				2982726, 6358902	Standard	NM_001111283		Approved	IGF1A, IGFI, IGF-I	uc001tjp.4	P05019	OTTHUMG00000149910	ENST00000307046.8:c.293G>A	12.37:g.102813396C>T	ENSP00000302665:p.Arg98Gln					IGF1_uc001tjn.2_Missense_Mutation_p.R82Q|IGF1_uc001tjm.2_Missense_Mutation_p.R98Q|IGF1_uc001tjo.2_Missense_Mutation_p.R98Q	p.R98Q	NM_001111285	NP_001104755	P05019	IGF1_HUMAN			3	512	-			98			A.		B2RWM7|E9PD02|P01343|Q14620	Missense_Mutation	SNP	ENST00000307046.8	37	c.293G>A	CCDS44962.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.681955	0.47991	.	.	ENSG00000017427	ENST00000456098;ENST00000337514;ENST00000392904;ENST00000424202;ENST00000392905;ENST00000307046	D;D;D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39;-2.39;-2.39	5.84	5.84	0.93424	Insulin, conserved site (1);Insulin-like (4);	0.052508	0.85682	D	0.000000	T	0.71995	0.3406	N	0.11651	0.15	0.41763	D	0.989726	P;B;B;B	0.35684	0.515;0.258;0.308;0.258	B;B;B;B	0.25405	0.041;0.055;0.038;0.06	T	0.71182	-0.4668	10	0.16896	T	0.51	-19.3185	7.6661	0.28432	0.0:0.8078:0.0:0.1922	.	98;129;82;98	P05019;Q59GC5;Q14620;E9PD02	IGF1_HUMAN;.;.;.	Q	98;98;98;82;79;98	ENSP00000394999:R98Q;ENSP00000337612:R98Q;ENSP00000376637:R98Q;ENSP00000416811:R82Q;ENSP00000376638:R79Q;ENSP00000302665:R98Q	ENSP00000302665:R98Q	R	-	2	0	IGF1	101337526	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.735000	0.68587	2.764000	0.94973	0.650000	0.86243	CGG		PASS	0.597	IGF1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313855.1	NM_000618		3	53	3	53	---	---	---	---
TMEM132D	121256	broad.mit.edu	37	12	129559245	129559245	+	Silent	SNP	T	T	C			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr12:129559245T>C	ENST00000422113.2	-	9	2801	c.2475A>G	c.(2473-2475)agA>agG	p.R825R	TMEM132D_ENST00000389441.4_Silent_p.R363R	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	825					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.R825R(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TTTTGGGCCTTCTGTCACTGA	0.512																																						uc009zyl.1																			1	Substitution - coding silent(1)		lung(1)	ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(2473-2475)AGA>AGG		transmembrane protein 132D precursor							154.0	131.0	139.0					12																	129559245		2203	4300	6503	SO:0001819	synonymous_variant	121256					integral to membrane		g.chr12:129559245T>C	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.2475A>G	12.37:g.129559245T>C						TMEM132D_uc001uia.2_Silent_p.R363R	p.R825R	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	9	2803	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	825			Extracellular (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	37	c.2475A>G	CCDS9266.1																																																																																				PASS	0.512	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		4	95	4	95	---	---	---	---
UGGT2	55757	broad.mit.edu	37	13	96513097	96513097	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr13:96513097C>A	ENST00000376747.3	-	32	3755	c.3685G>T	c.(3685-3687)Gat>Tat	p.D1229Y		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	1229	Glucosyltransferase.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)	p.D1229Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TTTAGGACATCTTTTTCCTTT	0.259																																						uc001vmt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(3685-3687)GAT>TAT		UDP-glucose ceramide glucosyltransferase-like 2							56.0	60.0	58.0					13																	96513097		2193	4249	6442	SO:0001583	missense	55757				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity	g.chr13:96513097C>A	AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.3685G>T	13.37:g.96513097C>A	ENSP00000365938:p.Asp1229Tyr						p.D1229Y	NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN			32	3855	-			1229			Glucosyltransferase.		A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	ENST00000376747.3	37	c.3685G>T	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.661019	0.88154	.	.	ENSG00000102595	ENST00000376747	T	0.09538	2.97	5.16	4.31	0.51392	.	0.050106	0.85682	D	0.000000	T	0.33818	0.0876	M	0.81112	2.525	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	T	0.17471	-1.0368	10	0.72032	D	0.01	-13.5498	13.4605	0.61225	0.0:0.9227:0.0:0.0773	.	1229	Q9NYU1	UGGG2_HUMAN	Y	1229	ENSP00000365938:D1229Y	ENSP00000365938:D1229Y	D	-	1	0	UGGT2	95311098	1.000000	0.71417	0.094000	0.20943	0.921000	0.55340	2.603000	0.46266	1.259000	0.44117	0.655000	0.94253	GAT		PASS	0.259	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121		19	22	19	22	---	---	---	---
TM9SF2	9375	broad.mit.edu	37	13	100181844	100181844	+	Missense_Mutation	SNP	C	C	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr13:100181844C>T	ENST00000376387.4	+	4	647	c.457C>T	c.(457-459)Cac>Tac	p.H153Y	TM9SF2_ENST00000463709.1_3'UTR	NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	153					transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)		p.H153Y(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					TTATCAACATCACTGGTAAGG	0.294																																						uc001voj.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(457-459)CAC>TAC		transmembrane 9 superfamily member 2 precursor							97.0	101.0	100.0					13																	100181844		2202	4295	6497	SO:0001583	missense	9375				transport	endosome membrane|integral to plasma membrane		g.chr13:100181844C>T	U81006	CCDS9493.1	13q32.2	2011-03-28			ENSG00000125304	ENSG00000125304			11865	protein-coding gene	gene with protein product		604678				9729438	Standard	NM_004800		Approved	P76	uc001voj.2	Q99805	OTTHUMG00000017272	ENST00000376387.4:c.457C>T	13.37:g.100181844C>T	ENSP00000365567:p.His153Tyr					TM9SF2_uc010afz.1_Intron	p.H153Y	NM_004800	NP_004791	Q99805	TM9S2_HUMAN			4	590	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)		153			Lumenal (Potential).		A8K399|Q2TAY5	Missense_Mutation	SNP	ENST00000376387.4	37	c.457C>T	CCDS9493.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.156625	0.78114	.	.	ENSG00000125304	ENST00000376387	T	0.44881	0.91	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.62344	0.2420	M	0.88906	2.99	0.80722	D	1	B	0.32893	0.389	B	0.42959	0.403	T	0.68202	-0.5471	10	0.72032	D	0.01	-25.7534	19.2335	0.93849	0.0:1.0:0.0:0.0	.	153	Q99805	TM9S2_HUMAN	Y	153	ENSP00000365567:H153Y	ENSP00000365567:H153Y	H	+	1	0	TM9SF2	98979845	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	7.396000	0.79891	2.598000	0.87819	0.650000	0.86243	CAC		PASS	0.294	TM9SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045602.3			23	72	23	72	---	---	---	---
NALCN	259232	broad.mit.edu	37	13	101763490	101763490	+	Silent	SNP	G	G	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr13:101763490G>A	ENST00000251127.6	-	19	2361	c.2280C>T	c.(2278-2280)atC>atT	p.I760I		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	760					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.I760I(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)					GCTCTTGGCGGATATGATGCT	0.522																																						uc001vox.1																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(2278-2280)ATC>ATT		voltage gated channel like 1							174.0	164.0	167.0					13																	101763490		2203	4300	6503	SO:0001819	synonymous_variant	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101763490G>A	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.2280C>T	13.37:g.101763490G>A							p.I760I	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			19	2469	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		760			Cytoplasmic (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Silent	SNP	ENST00000251127.6	37	c.2280C>T	CCDS9498.1																																																																																				PASS	0.522	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		12	217	12	217	---	---	---	---
TMCO3	55002	broad.mit.edu	37	13	114203835	114203835	+	Silent	SNP	G	G	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr13:114203835G>A	ENST00000434316.2	+	13	2375	c.2016G>A	c.(2014-2016)gaG>gaA	p.E672E	TMCO3_ENST00000375391.1_Intron	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	672						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)	p.E672E(1)		NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			CCAGACCGGAGAGACGGTCCA	0.607																																						uc001vtu.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(2014-2016)GAG>GAA		transmembrane and coiled-coil domains 3							90.0	66.0	74.0					13																	114203835		2203	4300	6503	SO:0001819	synonymous_variant	55002					integral to membrane	solute:hydrogen antiporter activity	g.chr13:114203835G>A	BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 11"""	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.2016G>A	13.37:g.114203835G>A							p.E672E	NM_017905	NP_060375	Q6UWJ1	TMCO3_HUMAN	all cancers(43;0.0317)		13	2377	+	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	672					Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Silent	SNP	ENST00000434316.2	37	c.2016G>A	CCDS9537.1																																																																																				PASS	0.607	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045931.3	NM_017905		8	34	8	34	---	---	---	---
OR4N5	390437	broad.mit.edu	37	14	20612092	20612092	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr14:20612092G>T	ENST00000333629.1	+	1	198	c.198G>T	c.(196-198)ttG>ttT	p.L66F	RNA5SP381_ENST00000516076.1_RNA	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	66						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L66F(1)		endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TGGGCAACTTGGCCTTACTGG	0.468																																						uc010tla.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(196-198)TTG>TTT		olfactory receptor, family 4, subfamily N,							185.0	189.0	188.0					14																	20612092		2203	4300	6503	SO:0001583	missense	390437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20612092G>T		CCDS32031.1	14q11.2	2013-09-23			ENSG00000184394	ENSG00000184394		"""GPCR / Class A : Olfactory receptors"""	15358	protein-coding gene	gene with protein product							Standard	NM_001004724		Approved		uc010tla.2	Q8IXE1	OTTHUMG00000170784	ENST00000333629.1:c.198G>T	14.37:g.20612092G>T	ENSP00000332110:p.Leu66Phe						p.L66F	NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)	1	198	+	all_cancers(95;0.00108)		66			Helical; Name=2; (Potential).		Q6IF11	Missense_Mutation	SNP	ENST00000333629.1	37	c.198G>T	CCDS32031.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.553310	0.45487	.	.	ENSG00000184394	ENST00000333629	T	0.00512	6.89	3.99	3.01	0.34805	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34603	N	0.003836	T	0.01558	0.0050	M	0.77820	2.39	0.26256	N	0.978648	D	0.89917	1.0	D	0.91635	0.999	T	0.19943	-1.0290	10	0.87932	D	0	.	11.4569	0.50187	0.0:0.1844:0.8155:0.0	.	66	Q8IXE1	OR4N5_HUMAN	F	66	ENSP00000332110:L66F	ENSP00000332110:L66F	L	+	3	2	OR4N5	19681932	0.000000	0.05858	0.998000	0.56505	0.845000	0.48019	-1.604000	0.02076	2.214000	0.71695	0.650000	0.86243	TTG		PASS	0.468	OR4N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410347.1			14	209	14	209	---	---	---	---
PARP2	10038	broad.mit.edu	37	14	20824553	20824553	+	Missense_Mutation	SNP	G	G	C			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr14:20824553G>C	ENST00000250416.5	+	12	1255	c.1228G>C	c.(1228-1230)Gat>Cat	p.D410H	PARP2_ENST00000527915.1_Missense_Mutation_p.D410H|PARP2_ENST00000429687.3_Missense_Mutation_p.D397H	NM_001042618.1|NM_005484.3	NP_001036083.1|NP_005475.2	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	410	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				base-excision repair (GO:0006284)|DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway (GO:0097191)|protein ADP-ribosylation (GO:0006471)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.D410H(1)|p.D361H(1)		central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		AGTGGAGAAGGATGGTGAGAA	0.458								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														uc001vxc.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(1228-1230)GAT>CAT	Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA	poly (ADP-ribose) polymerase family, member 2							182.0	176.0	178.0					14																	20824553		1975	4166	6141	SO:0001583	missense	10038				protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity	g.chr14:20824553G>C	AF085734	CCDS41910.1, CCDS45077.1	14q11.2-q12	2010-02-16	2008-07-28	2004-08-26	ENSG00000129484	ENSG00000129484		"""Poly (ADP-ribose) polymerases"""	272	protein-coding gene	gene with protein product		607725	"""ADP-ribosyltransferase (NAD+; poly(ADP-ribose) polymerase)-like 2"", ""poly (ADP-ribose) polymerase family, member 2"""	ADPRTL2		10329013, 18353725	Standard	NM_005484		Approved		uc001vxc.3	Q9UGN5	OTTHUMG00000166106	ENST00000250416.5:c.1228G>C	14.37:g.20824553G>C	ENSP00000250416:p.Asp410His					PARP2_uc001vxd.2_Missense_Mutation_p.D397H|PARP2_uc001vxb.1_Missense_Mutation_p.D410H|PARP2_uc010tle.1_Missense_Mutation_p.D160H	p.D410H	NM_005484	NP_005475	Q9UGN5	PARP2_HUMAN	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)	12	1256	+	all_cancers(95;0.00092)	all_lung(585;0.235)	410			PARP catalytic.		Q8TEU4|Q9NUV2|Q9UMR4|Q9Y6C8	Missense_Mutation	SNP	ENST00000250416.5	37	c.1228G>C	CCDS41910.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.26|15.26	2.780637|2.780637	0.49891|0.49891	.|.	.|.	ENSG00000129484|ENSG00000129484	ENST00000429687;ENST00000250416;ENST00000527915|ENST00000539930	T;T;T|.	0.14640|.	2.49;2.49;2.49|.	6.07|6.07	5.18|5.18	0.71444|0.71444	Poly(ADP-ribose) polymerase, catalytic domain (2);|.	0.318910|.	0.32952|.	N|.	0.005452|.	T|T	0.32852|0.32852	0.0843|0.0843	N|N	0.21097|0.21097	0.63|0.63	0.24263|0.24263	N|N	0.995276|0.995276	P;B;P|.	0.42409|.	0.779;0.158;0.565|.	B;B;P|.	0.45913|.	0.265;0.212;0.497|.	T|T	0.21415|0.21415	-1.0246|-1.0246	10|5	0.41790|.	T|.	0.15|.	-17.2609|-17.2609	10.6875|10.6875	0.45852|0.45852	0.1474:0.0:0.8526:0.0|0.1474:0.0:0.8526:0.0	.|.	323;397;410|.	B4DV82;Q9UGN5-2;Q9UGN5|.	.;.;PARP2_HUMAN|.	H|A	397;410;410|86	ENSP00000392972:D397H;ENSP00000250416:D410H;ENSP00000432283:D410H|.	ENSP00000250416:D410H|.	D|G	+|+	1|2	0|0	PARP2|PARP2	19894393|19894393	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.887000|0.887000	0.51463|0.51463	3.345000|3.345000	0.52182|0.52182	1.584000|1.584000	0.49913|0.49913	-0.137000|-0.137000	0.14449|0.14449	GAT|GGA		PASS	0.458	PARP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000387847.2			18	166	18	166	---	---	---	---
TPPP2	122664	broad.mit.edu	37	14	21500193	21500193	+	Missense_Mutation	SNP	G	G	C			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr14:21500193G>C	ENST00000321760.6	+	4	618	c.470G>C	c.(469-471)aGt>aCt	p.S157T	AL161668.5_ENST00000533984.1_lincRNA|RP11-998D10.1_ENST00000531638.1_5'Flank|NDRG2_ENST00000403829.3_Intron|TPPP2_ENST00000530140.2_Missense_Mutation_p.S157T	NM_173846.4	NP_776245.2	P59282	TPPP2_HUMAN	tubulin polymerization-promoting protein family member 2	157						cytoplasm (GO:0005737)		p.S157T(1)		endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		GGCTATGTGAGTGGTTACAAG	0.542																																						uc001vzh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(469-471)AGT>ACT		tubulin polymerization-promoting protein family							200.0	153.0	169.0					14																	21500193		2203	4300	6503	SO:0001583	missense	122664					cytoplasm		g.chr14:21500193G>C	AY072034	CCDS9566.1	14q11.2	2014-01-21	2007-05-02	2007-05-02	ENSG00000179636	ENSG00000179636			19293	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 8"""	C14orf8		15590652, 17105200	Standard	NM_173846		Approved	p25beta, p18, CT152	uc001vzh.3	P59282	OTTHUMG00000029642	ENST00000321760.6:c.470G>C	14.37:g.21500193G>C	ENSP00000317595:p.Ser157Thr					NDRG2_uc010tll.1_Intron	p.S157T	NM_173846	NP_776245	P59282	TPPP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)	4	658	+	all_cancers(95;0.000759)		157					Q2VYF3	Missense_Mutation	SNP	ENST00000321760.6	37	c.470G>C	CCDS9566.1	.	.	.	.	.	.	.	.	.	.	G	9.446	1.089337	0.20390	.	.	ENSG00000179636	ENST00000321760;ENST00000530140	T;T	0.47869	0.83;0.83	4.5	4.5	0.54988	.	0.253108	0.39759	N	0.001270	T	0.47210	0.1433	L	0.54908	1.71	0.35893	D	0.829825	B	0.20550	0.046	B	0.30316	0.114	T	0.55915	-0.8065	10	0.42905	T	0.14	-9.2995	15.086	0.72155	0.0:0.0:1.0:0.0	.	157	P59282	TPPP2_HUMAN	T	157	ENSP00000317595:S157T;ENSP00000435356:S157T	ENSP00000317595:S157T	S	+	2	0	TPPP2	20570033	1.000000	0.71417	1.000000	0.80357	0.522000	0.34438	3.573000	0.53856	2.485000	0.83878	0.655000	0.94253	AGT		PASS	0.542	TPPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073914.3	NM_173846		9	63	9	63	---	---	---	---
LRFN5	145581	broad.mit.edu	37	14	42361139	42361139	+	Missense_Mutation	SNP	C	C	A	rs369488450		TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr14:42361139C>A	ENST00000298119.4	+	4	3261	c.2072C>A	c.(2071-2073)aCg>aAg	p.T691K	LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	691						integral component of membrane (GO:0016021)		p.T691M(1)|p.T691K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GAGGGGCCCACGTCTAAAAGA	0.468										HNSCC(30;0.082)																												uc001wvm.2																			2	Substitution - Missense(2)	p.T691M(1)	ovary(1)|lung(1)	ovary(5)|pancreas(2)|central_nervous_system(1)	8						c.(2071-2073)ACG>AAG		leucine rich repeat and fibronectin type III							54.0	51.0	52.0					14																	42361139		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42361139C>A	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.2072C>A	14.37:g.42361139C>A	ENSP00000298119:p.Thr691Lys	HNSCC(30;0.082)				LRFN5_uc010ana.2_Intron	p.T691K	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	4	3270	+			691			Cytoplasmic (Potential).		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.2072C>A	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	C	8.207	0.799378	0.16397	.	.	ENSG00000165379	ENST00000298119	T	0.44482	0.92	5.69	3.86	0.44501	.	0.586689	0.16082	N	0.230480	T	0.19406	0.0466	N	0.08118	0	0.25479	N	0.987751	B	0.23650	0.089	B	0.14578	0.011	T	0.14227	-1.0480	10	0.19590	T	0.45	.	6.8618	0.24072	0.0:0.7381:0.0:0.2619	.	691	Q96NI6	LRFN5_HUMAN	K	691	ENSP00000298119:T691K	ENSP00000298119:T691K	T	+	2	0	LRFN5	41430889	0.023000	0.18921	0.858000	0.33744	0.535000	0.34838	1.837000	0.39201	1.413000	0.46997	0.650000	0.86243	ACG		PASS	0.468	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		20	28	20	28	---	---	---	---
IGHG3	3502	broad.mit.edu	37	14	106235847	106235847	+	RNA	SNP	C	C	G			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr14:106235847C>G	ENST00000390551.2	-	0	859							P01860	IGHG3_HUMAN	immunoglobulin heavy constant gamma 3 (G3m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										TCTTGGTCATCTCCTCCCGGG	0.637																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							111.0	120.0	117.0					14																	106235847		2012	4164	6176			8755							g.chr14:106235847C>G	M12958		14q32.33	2012-10-02			ENSG00000211897	ENSG00000211897		"""Immunoglobulins / IGH locus"""	5527	other	immunoglobulin gene		147120				6808505	Standard	NG_001019		Approved			P01860	OTTHUMG00000152539		14.37:g.106235847C>G						uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron|uc001yse.2_Intron|uc001ysf.2_Intron|uc001ysh.1_RNA|uc001ysi.1_RNA								3617		-								A2NU35	RNA	SNP	ENST00000390551.2	37	c.58000G>C																																																																																					PASS	0.637	IGHG3-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326654.1	NG_001019		61	207	61	207	---	---	---	---
NUTM1	256646	broad.mit.edu	37	15	34649392	34649392	+	Missense_Mutation	SNP	G	G	C			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr15:34649392G>C	ENST00000333756.4	+	7	3254	c.3099G>C	c.(3097-3099)agG>agC	p.R1033S	NUTM1_ENST00000438749.3_Missense_Mutation_p.R1051S|NUTM1_ENST00000537011.1_Missense_Mutation_p.R1061S	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	1033						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R1033S(1)									TCTCACCAAGGGAGCATCCCC	0.532																																						uc001zif.2										T					BRD3|BRD4		lethal midline carcinoma	BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	1	Substitution - Missense(1)		lung(1)	midline_organs(25)|ovary(2)|lung(2)|skin(1)	30						c.(3097-3099)AGG>AGC		nuclear protein in testis							82.0	68.0	73.0					15																	34649392		2201	4298	6499	SO:0001583	missense	256646					cytoplasm|nucleus		g.chr15:34649392G>C	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.3099G>C	15.37:g.34649392G>C	ENSP00000329448:p.Arg1033Ser					C15orf55_uc010ucc.1_Missense_Mutation_p.R1061S|C15orf55_uc010ucd.1_Missense_Mutation_p.R1051S	p.R1033S	NM_175741	NP_786883	Q86Y26	NUT_HUMAN		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)	7	3254	+		all_lung(180;2.78e-08)	1033					B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Missense_Mutation	SNP	ENST00000333756.4	37	c.3099G>C	CCDS32190.1	.	.	.	.	.	.	.	.	.	.	G	9.014	0.983250	0.18889	.	.	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000333756	T;T;T	0.08193	3.12;3.12;3.12	4.98	-0.507	0.11985	.	0.998199	0.08108	N	0.996671	T	0.08846	0.0219	L	0.58101	1.795	0.09310	N	1	P;P;P	0.42375	0.67;0.778;0.608	B;B;B	0.42555	0.219;0.391;0.154	T	0.32295	-0.9912	10	0.15066	T	0.55	.	3.605	0.08039	0.4088:0.0:0.4202:0.1711	.	1051;1061;1033	E7EVE8;F5H4I6;Q86Y26	.;.;NUT_HUMAN	S	1061;1051;1033	ENSP00000444896:R1061S;ENSP00000407031:R1051S;ENSP00000329448:R1033S	ENSP00000329448:R1033S	R	+	3	2	C15orf55	32436684	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.016000	0.12613	-0.257000	0.09459	0.655000	0.94253	AGG		PASS	0.532	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		25	51	25	51	---	---	---	---
TUBGCP4	27229	broad.mit.edu	37	15	43692396	43692396	+	Missense_Mutation	SNP	G	G	C			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr15:43692396G>C	ENST00000260383.7	+	14	1830	c.1576G>C	c.(1576-1578)Gat>Cat	p.D526H	TUBGCP4_ENST00000564079.1_Missense_Mutation_p.D525H|TUBGCP4_ENST00000399460.3_3'UTR			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	526					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922)	structural constituent of cytoskeleton (GO:0005200)	p.D525H(1)		breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		ATTTTTGGTGGATAATCTTCA	0.488																																						uc001zro.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1576-1578)GAT>CAT		tubulin, gamma complex associated protein 4							149.0	150.0	150.0					15																	43692396		1966	4143	6109	SO:0001583	missense	27229				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton	g.chr15:43692396G>C	AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822			16691	protein-coding gene	gene with protein product		609610				10562286	Standard	NM_001286414		Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000260383.7:c.1576G>C	15.37:g.43692396G>C	ENSP00000260383:p.Asp526His					TUBGCP4_uc001zrn.2_Missense_Mutation_p.D525H|TUBGCP4_uc010bdh.2_RNA	p.D526H	NM_014444	NP_055259	Q9UGJ1	GCP4_HUMAN		GBM - Glioblastoma multiforme(94;3.53e-07)	14	1816	+		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)	526					B3KNK6|Q969X3|Q9NVF0	Missense_Mutation	SNP	ENST00000260383.7	37	c.1576G>C		.	.	.	.	.	.	.	.	.	.	G	27.5	4.833441	0.91036	.	.	ENSG00000137822	ENST00000260383	.	.	.	5.2	5.2	0.72013	.	0.043091	0.85682	D	0.000000	T	0.77232	0.4100	M	0.71036	2.16	0.80722	D	1	D;D	0.89917	1.0;0.979	D;P	0.74674	0.984;0.731	T	0.71807	-0.4481	9	0.23302	T	0.38	-19.7974	18.2666	0.90054	0.0:0.0:1.0:0.0	.	526;525	Q9UGJ1;Q9UGJ1-2	GCP4_HUMAN;.	H	525	.	ENSP00000260383:D525H	D	+	1	0	TUBGCP4	41479688	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.601000	0.98297	2.861000	0.98227	0.655000	0.94253	GAT		PASS	0.488	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000432970.1	NM_014444		29	112	29	112	---	---	---	---
DUOX1	53905	broad.mit.edu	37	15	45426062	45426062	+	Splice_Site	SNP	G	G	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr15:45426062G>T	ENST00000321429.4	+	4	466	c.59G>T	c.(58-60)gGa>gTa	p.G20V	DUOX1_ENST00000389037.3_Splice_Site_p.G20V	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	20					cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)	p.G20V(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TCTCACACAGGAGCTCAGAAC	0.577																																						uc001zus.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(2)|breast(1)	8						c.(58-60)GGA>GTA		dual oxidase 1 precursor							138.0	122.0	127.0					15																	45426062		2198	4298	6496	SO:0001630	splice_region_variant	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45426062G>T	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.59-1G>T	15.37:g.45426062G>T						DUOX1_uc001zut.1_Missense_Mutation_p.G20V|DUOX1_uc010bee.1_5'UTR	p.G20V	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	4	405	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	20					A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	37	c.59G>T	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	G	11.43	1.635394	0.29068	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.85702	-2.02;-2.02	5.1	4.18	0.49190	.	0.730690	0.13022	N	0.419985	T	0.81197	0.4772	L	0.61218	1.895	0.80722	D	1	B	0.18741	0.03	B	0.21917	0.037	T	0.73946	-0.3822	9	.	.	.	.	6.4582	0.21942	0.0895:0.0:0.7289:0.1816	.	20	Q9NRD9	DUOX1_HUMAN	V	20	ENSP00000317997:G20V;ENSP00000373689:G20V	.	G	+	2	0	DUOX1	43213354	0.799000	0.28903	0.980000	0.43619	0.724000	0.41520	1.059000	0.30517	1.364000	0.46038	0.563000	0.77884	GGA		PASS	0.577	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434	Missense_Mutation	35	93	35	93	---	---	---	---
SLC24A5	283652	broad.mit.edu	37	15	48413351	48413351	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr15:48413351C>A	ENST00000341459.3	+	1	183	c.110C>A	c.(109-111)cCa>cAa	p.P37Q	SLC24A5_ENST00000449382.2_Missense_Mutation_p.P37Q|SLC24A5_ENST00000482911.2_Missense_Mutation_p.P37Q	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	37					ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|negative regulation of melanin biosynthetic process (GO:0048022)|response to stimulus (GO:0050896)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)	p.P37Q(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		CAACGTCTCCCAAGGGCCACA	0.572																																						uc001zwe.2																			1	Substitution - Missense(1)		lung(1)		0						c.(109-111)CCA>CAA		solute carrier family 24, member 5 precursor							48.0	42.0	44.0					15																	48413351		2198	4297	6495	SO:0001583	missense	283652				response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr15:48413351C>A	AF348468	CCDS10128.1	15q21.1	2014-01-28	2013-07-18		ENSG00000188467	ENSG00000188467		"""Solute carriers"""	20611	protein-coding gene	gene with protein product	"""oculocutaneous albinism 6 (autosomal recessive)"""	609802	"""solute carrier family 24, member 5"""			23364476	Standard	XM_005254308		Approved	JSX, OCA6	uc001zwe.3	Q71RS6	OTTHUMG00000131494	ENST00000341459.3:c.110C>A	15.37:g.48413351C>A	ENSP00000341550:p.Pro37Gln					SLC24A5_uc001zwd.2_Missense_Mutation_p.P37Q|SLC24A5_uc010bel.2_Missense_Mutation_p.P37Q	p.P37Q	NM_205850	NP_995322	Q71RS6	NCKX5_HUMAN		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)	1	183	+		all_lung(180;0.00217)	37			Extracellular (Potential).		A5X8Z8|A5X8Z9|Q14CT4|Q6DKH3	Missense_Mutation	SNP	ENST00000341459.3	37	c.110C>A	CCDS10128.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.112608	0.77210	.	.	ENSG00000188467	ENST00000341459;ENST00000449382	T;T	0.74421	-0.84;-0.82	5.38	5.38	0.77491	.	0.248187	0.29133	N	0.013051	T	0.71434	0.3339	N	0.08118	0	0.24104	N	0.995861	P;P;D	0.71674	0.662;0.745;0.998	B;B;P	0.62649	0.252;0.224;0.905	T	0.66304	-0.5957	10	0.39692	T	0.17	.	15.9897	0.80193	0.0:1.0:0.0:0.0	.	37;37;37	A5X8Z9;Q71RS6;A5X8Z8	.;NCKX5_HUMAN;.	Q	37	ENSP00000341550:P37Q;ENSP00000389966:P37Q	ENSP00000341550:P37Q	P	+	2	0	SLC24A5	46200643	0.649000	0.27322	0.998000	0.56505	0.954000	0.61252	1.419000	0.34793	2.813000	0.96785	0.655000	0.94253	CCA		PASS	0.572	SLC24A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254340.2	NM_205850		15	38	15	38	---	---	---	---
FBN1	2200	broad.mit.edu	37	15	48717600	48717600	+	Silent	SNP	G	G	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr15:48717600G>T	ENST00000316623.5	-	60	7874	c.7419C>A	c.(7417-7419)ggC>ggA	p.G2473G		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2473	EGF-like 42; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.G2473G(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GCAGAATGTAGCCTTTCGGGC	0.473																																						uc001zwx.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(7417-7419)GGC>GGA		fibrillin 1 precursor							192.0	161.0	171.0					15																	48717600		2198	4296	6494	SO:0001819	synonymous_variant	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48717600G>T	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.7419C>A	15.37:g.48717600G>T						FBN1_uc010beo.1_RNA	p.G2473G	NM_000138	NP_000129	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	60	7747	-		all_lung(180;0.00279)	2473			EGF-like 42; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP	ENST00000316623.5	37	c.7419C>A	CCDS32232.1																																																																																				PASS	0.473	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			6	115	6	115	---	---	---	---
UNC13C	440279	broad.mit.edu	37	15	54630593	54630593	+	Missense_Mutation	SNP	T	T	C			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr15:54630593T>C	ENST00000260323.11	+	16	4619	c.4619T>C	c.(4618-4620)aTg>aCg	p.M1540T	UNC13C_ENST00000545554.1_Missense_Mutation_p.M1540T|UNC13C_ENST00000537900.1_Missense_Mutation_p.M1538T	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1540					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.M1540T(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AAAGCGAGCATGGTGGTGAAG	0.433																																						uc002ack.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|pancreas(2)	7						c.(4618-4620)ATG>ACG		unc-13 homolog C							149.0	151.0	150.0					15																	54630593		1880	4107	5987	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54630593T>C	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.4619T>C	15.37:g.54630593T>C	ENSP00000260323:p.Met1540Thr					UNC13C_uc002acl.2_Missense_Mutation_p.M370T	p.M1540T	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	15	4619	+			1540					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.4619T>C	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	T	0.012	-1.648761	0.00785	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.76968	-1.06;-1.06;-1.06	4.72	-1.43	0.08884	Calcium-dependent secretion activator (1);	0.485051	0.23409	N	0.048483	T	0.39172	0.1068	N	0.00729	-1.24	0.26868	N	0.967806	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.46386	-0.9195	10	0.08599	T	0.76	.	9.8884	0.41274	0.0:0.5796:0.0:0.4204	.	1540;1540	F5H090;Q8NB66	.;UN13C_HUMAN	T	1540;1540;1538	ENSP00000260323:M1540T;ENSP00000438156:M1540T;ENSP00000442569:M1538T	ENSP00000260323:M1540T	M	+	2	0	UNC13C	52417885	0.432000	0.25554	0.951000	0.38953	0.234000	0.25298	0.591000	0.23969	-0.133000	0.11537	-0.468000	0.05107	ATG		PASS	0.433	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		67	177	67	177	---	---	---	---
TLN2	83660	broad.mit.edu	37	15	63084986	63084986	+	Splice_Site	SNP	G	G	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr15:63084986G>T	ENST00000561311.1	+	45	6113	c.5883G>T	c.(5881-5883)aaG>aaT	p.K1961N	TLN2_ENST00000306829.6_Splice_Site_p.K1961N			Q9Y4G6	TLN2_HUMAN	talin 2	1961					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.K1961N(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TCACGGAAAAGGTAAGGAGCA	0.552																																						uc002alb.3																			1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						c.(5881-5883)AAG>AAT		talin 2							34.0	35.0	34.0					15																	63084986		2203	4300	6503	SO:0001630	splice_region_variant	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63084986G>T	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.5883+1G>T	15.37:g.63084986G>T						TLN2_uc002alc.3_Missense_Mutation_p.K354N	p.K1961N	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN			43	5883	+			1961					A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.5883G>T	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.128928	0.77549	.	.	ENSG00000171914	ENST00000306829	T	0.48836	0.8	5.67	4.75	0.60458	Vinculin-binding site-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.69931	0.3166	M	0.83483	2.645	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.72404	-0.4304	10	0.40728	T	0.16	-26.033	14.4619	0.67456	0.0701:0.0:0.9299:0.0	.	1961	Q9Y4G6	TLN2_HUMAN	N	1961	ENSP00000303476:K1961N	ENSP00000303476:K1961N	K	+	3	2	TLN2	60872039	1.000000	0.71417	1.000000	0.80357	0.567000	0.35839	7.965000	0.87945	1.402000	0.46780	0.655000	0.94253	AAG		PASS	0.552	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2		Missense_Mutation	5	32	5	32	---	---	---	---
PLEKHO2	80301	broad.mit.edu	37	15	65158077	65158077	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr15:65158077G>T	ENST00000323544.4	+	6	1591	c.1463G>T	c.(1462-1464)aGt>aTt	p.S488I	AC069368.3_ENST00000437723.1_Intron	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	488								p.S488I(1)		NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						TACAGGAGAAGTGCACCCTAG	0.577																																						uc002anv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(1462-1464)AGT>ATT		pleckstrin homology domain containing, family O							25.0	26.0	25.0					15																	65158077		2201	4298	6499	SO:0001583	missense	80301							g.chr15:65158077G>T	AF318373	CCDS10196.1, CCDS73739.1	15q22.31	2013-01-10	2007-12-14	2007-12-14	ENSG00000241839	ENSG00000241839		"""Pleckstrin homology (PH) domain containing"""	30026	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family Q member 1"""	PLEKHQ1		12477932	Standard	NM_025201		Approved	DKFZp761K2312, PP1628, pp9099	uc002anv.3	Q8TD55	OTTHUMG00000133050	ENST00000323544.4:c.1463G>T	15.37:g.65158077G>T	ENSP00000326706:p.Ser488Ile					PLEKHO2_uc010bgz.2_Missense_Mutation_p.S164I|PLEKHO2_uc002anw.2_Missense_Mutation_p.S438I	p.S488I	NM_025201	NP_079477	Q8TD55	PKHO2_HUMAN			6	1597	+			488					Q7L4H4|Q8WYS8	Missense_Mutation	SNP	ENST00000323544.4	37	c.1463G>T	CCDS10196.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.495901	0.64186	.	.	ENSG00000241839	ENST00000323544	T	0.56941	0.43	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.63260	0.2496	L	0.34521	1.04	0.44316	D	0.99719	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.66889	-0.5809	10	0.87932	D	0	.	15.7604	0.78076	0.0:0.0:1.0:0.0	.	438;488	Q8TD55-2;Q8TD55	.;PKHO2_HUMAN	I	488	ENSP00000326706:S488I	ENSP00000326706:S488I	S	+	2	0	PLEKHO2	62945130	1.000000	0.71417	0.976000	0.42696	0.614000	0.37383	5.860000	0.69546	2.381000	0.81170	0.549000	0.68633	AGT		PASS	0.577	PLEKHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256659.1	NM_025201		15	49	15	49	---	---	---	---
MAN2C1	4123	broad.mit.edu	37	15	75656349	75656349	+	Missense_Mutation	SNP	T	T	C			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr15:75656349T>C	ENST00000267978.5	-	6	827	c.781A>G	c.(781-783)Att>Gtt	p.I261V	MAN2C1_ENST00000569482.1_Missense_Mutation_p.I261V|MAN2C1_ENST00000565683.1_Missense_Mutation_p.I261V|MAN2C1_ENST00000563539.1_Intron|MAN2C1_ENST00000563622.1_Intron	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	261					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)	p.I261V(1)		central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						CCTGTATCAATGTGGCAGTGC	0.592																																						uc002baf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(781-783)ATT>GTT		mannosidase, alpha, class 2C, member 1							110.0	66.0	81.0					15																	75656349		2197	4294	6491	SO:0001583	missense	4123				mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding	g.chr15:75656349T>C	AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.781A>G	15.37:g.75656349T>C	ENSP00000267978:p.Ile261Val					MAN2C1_uc002bag.2_Missense_Mutation_p.I261V|MAN2C1_uc002bah.2_Missense_Mutation_p.I261V|MAN2C1_uc010bkk.2_Intron|MAN2C1_uc010umi.1_Missense_Mutation_p.I43V|MAN2C1_uc010umj.1_Intron|MAN2C1_uc010umk.1_RNA	p.I261V	NM_006715	NP_006706	Q9NTJ4	MA2C1_HUMAN			6	798	-			261					H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Missense_Mutation	SNP	ENST00000267978.5	37	c.781A>G	CCDS32298.1	.	.	.	.	.	.	.	.	.	.	t	27.0	4.795409	0.90453	.	.	ENSG00000140400	ENST00000267978	T	0.80214	-1.35	5.47	5.47	0.80525	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	0.000000	0.85682	D	0.000000	D	0.92502	0.7619	H	0.96142	3.775	0.58432	D	0.999992	D;P;D	0.71674	0.998;0.863;0.988	D;P;P	0.69479	0.964;0.741;0.891	D	0.94618	0.7810	10	0.72032	D	0.01	-15.3782	14.7027	0.69166	0.0:0.0:0.0:1.0	.	43;261;261	B4DVP6;Q68EM8;Q9NTJ4	.;.;MA2C1_HUMAN	V	261	ENSP00000267978:I261V	ENSP00000267978:I261V	I	-	1	0	MAN2C1	73443402	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.452000	0.80683	2.081000	0.62600	0.398000	0.26397	ATT		PASS	0.592	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419965.1			19	54	19	54	---	---	---	---
HMG20A	10363	broad.mit.edu	37	15	77771649	77771649	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr15:77771649G>T	ENST00000381714.3	+	10	1464	c.1036G>T	c.(1036-1038)Gat>Tat	p.D346Y	HMG20A_ENST00000336216.4_Missense_Mutation_p.D346Y	NM_018200.2	NP_060670.1	Q9NP66	HM20A_HUMAN	high mobility group 20A	346					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D346N(1)|p.D346Y(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						GAACAGACTCGATCGTTAGGG	0.358																																						uc002bcr.2																			2	Substitution - Missense(2)	p.D346N(1)	lung(1)|central_nervous_system(1)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(1036-1038)GAT>TAT		high-mobility group 20A							108.0	110.0	109.0					15																	77771649		2196	4294	6490	SO:0001583	missense	10363				chromatin modification	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr15:77771649G>T	AF146222	CCDS10295.1	15q24	2011-07-01	2011-04-05		ENSG00000140382	ENSG00000140382		"""High mobility group / Non-canonical"""	5001	protein-coding gene	gene with protein product	"""HMG box domain containing 1"""	605534	"""high-mobility group 20A"""			10773667	Standard	NM_018200		Approved	HMGX1, FLJ10739, HMGXB1	uc002bcr.3	Q9NP66	OTTHUMG00000143729	ENST00000381714.3:c.1036G>T	15.37:g.77771649G>T	ENSP00000371133:p.Asp346Tyr					HMG20A_uc002bcs.2_Missense_Mutation_p.D346Y	p.D346Y	NM_018200	NP_060670	Q9NP66	HM20A_HUMAN			10	1237	+			346					A6NHY3|D3DW78|Q53G31|Q9NSF6	Missense_Mutation	SNP	ENST00000381714.3	37	c.1036G>T	CCDS10295.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.974813	0.92919	.	.	ENSG00000140382	ENST00000336216;ENST00000381714	T;T	0.75477	-0.94;-0.94	6.03	6.03	0.97812	.	0.182951	0.56097	D	0.000021	D	0.84678	0.5525	M	0.64997	1.995	0.80722	D	1	D	0.76494	0.999	P	0.62740	0.906	D	0.84758	0.0760	10	0.87932	D	0	.	20.5752	0.99366	0.0:0.0:1.0:0.0	.	346	Q9NP66	HM20A_HUMAN	Y	346	ENSP00000336856:D346Y;ENSP00000371133:D346Y	ENSP00000336856:D346Y	D	+	1	0	HMG20A	75558704	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.476000	0.97823	2.868000	0.98415	0.557000	0.71058	GAT		PASS	0.358	HMG20A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419512.2	NM_018200		22	27	22	27	---	---	---	---
AP3B2	8120	broad.mit.edu	37	15	83331597	83331597	+	Nonsense_Mutation	SNP	G	G	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr15:83331597G>T	ENST00000261722.3	-	22	2832	c.2625C>A	c.(2623-2625)taC>taA	p.Y875*	RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Nonsense_Mutation_p.Y843*|AP3B2_ENST00000535359.1_Nonsense_Mutation_p.Y894*	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	875					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.Y874*(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GGCTGAAGGTGTAGTCCACAG	0.617																																						uc010uoh.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|breast(1)|pancreas(1)	5						c.(2623-2625)TAC>TAA		adaptor-related protein complex 3, beta 2							34.0	41.0	39.0					15																	83331597		2055	4202	6257	SO:0001587	stop_gained	8120				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity	g.chr15:83331597G>T	U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.2625C>A	15.37:g.83331597G>T	ENSP00000261722:p.Tyr875*					AP3B2_uc010uoi.1_Nonsense_Mutation_p.Y894*|AP3B2_uc010uoj.1_Nonsense_Mutation_p.Y843*|AP3B2_uc010bmp.2_5'Flank|AP3B2_uc010uog.1_Nonsense_Mutation_p.Y511*	p.Y875*	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		22	2802	-			875					A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Nonsense_Mutation	SNP	ENST00000261722.3	37	c.2625C>A	CCDS45331.1	.	.	.	.	.	.	.	.	.	.	G	38	6.646980	0.97730	.	.	ENSG00000103723	ENST00000261722;ENST00000535348;ENST00000535359	.	.	.	5.95	-3.76	0.04359	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.7213	14.4783	0.67562	0.542:0.0:0.458:0.0	.	.	.	.	X	875;843;894	.	ENSP00000261722:Y875X	Y	-	3	2	AP3B2	81128652	1.000000	0.71417	0.280000	0.24747	0.952000	0.60782	2.631000	0.46502	-0.549000	0.06191	-0.253000	0.11424	TAC		PASS	0.617	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397463.1			4	38	4	38	---	---	---	---
AKAP13	11214	broad.mit.edu	37	15	86124590	86124590	+	Silent	SNP	A	A	G			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr15:86124590A>G	ENST00000394518.2	+	7	3386	c.3291A>G	c.(3289-3291)ctA>ctG	p.L1097L	AKAP13_ENST00000361243.2_Silent_p.L1097L|RP11-815J21.2_ENST00000561409.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1097					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)	p.L1097L(1)		NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TTAATGCTCTACAAGGTATGG	0.473																																					Melanoma(94;603 1453 3280 32295 32951)	uc002blv.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						c.(3289-3291)CTA>CTG		A-kinase anchor protein 13 isoform 2							90.0	87.0	88.0					15																	86124590		2202	4299	6501	SO:0001819	synonymous_variant	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86124590A>G	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.3291A>G	15.37:g.86124590A>G						AKAP13_uc002blt.1_Silent_p.L1097L|AKAP13_uc002blu.1_Silent_p.L1097L|AKAP13_uc010bne.1_5'Flank	p.L1097L	NM_007200	NP_009131	Q12802	AKP13_HUMAN			7	3461	+			1097					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	ENST00000394518.2	37	c.3291A>G	CCDS32319.1																																																																																				PASS	0.473	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		16	110	16	110	---	---	---	---
ISG20	3669	broad.mit.edu	37	15	89198686	89198686	+	Missense_Mutation	SNP	C	C	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr15:89198686C>T	ENST00000306072.5	+	4	828	c.470C>T	c.(469-471)gCa>gTa	p.A157V	ISG20_ENST00000560746.1_3'UTR|ISG20_ENST00000560741.1_Missense_Mutation_p.A157V	NM_002201.4	NP_002192.2	Q96AZ6	ISG20_HUMAN	interferon stimulated exonuclease gene 20kDa	157					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA catabolic process, exonucleolytic (GO:0000738)|negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	3'-5'-exoribonuclease activity (GO:0000175)|exonuclease activity (GO:0004527)|exoribonuclease II activity (GO:0008859)|metal ion binding (GO:0046872)|single-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008310)|U1 snRNA binding (GO:0030619)|U2 snRNA binding (GO:0030620)|U3 snoRNA binding (GO:0034511)	p.A157V(1)		large_intestine(1)|lung(3)|prostate(1)	5	Lung NSC(78;0.0554)|all_lung(78;0.103)		BRCA - Breast invasive adenocarcinoma(143;0.12)			GATGCGAGGGCAACGATGGAG	0.602																																						uc002bmv.1																			1	Substitution - Missense(1)		lung(1)		0						c.(469-471)GCA>GTA		interferon stimulated exonuclease							72.0	72.0	72.0					15																	89198686		2200	4299	6499	SO:0001583	missense	3669				cell proliferation|DNA catabolic process, exonucleolytic|response to virus|RNA catabolic process|type I interferon-mediated signaling pathway	PML body	3'-5'-exoribonuclease activity|exoribonuclease II activity|metal ion binding|RNA binding|single-stranded DNA specific 3'-5' exodeoxyribonuclease activity	g.chr15:89198686C>T	X89773	CCDS10345.1	15q26	2006-02-22	2002-08-29		ENSG00000172183	ENSG00000172183			6130	protein-coding gene	gene with protein product		604533	"""interferon stimulated gene (20kD)"""			9235947, 9605874	Standard	NM_002201		Approved	HEM45, CD25	uc002bmv.1	Q96AZ6	OTTHUMG00000148679	ENST00000306072.5:c.470C>T	15.37:g.89198686C>T	ENSP00000306565:p.Ala157Val					ISG20_uc002bmu.1_RNA|ISG20_uc002bmw.1_RNA|ISG20_uc010upn.1_RNA	p.A157V	NM_002201	NP_002192	Q96AZ6	ISG20_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.12)		4	763	+	Lung NSC(78;0.0554)|all_lung(78;0.103)		157					O00441|O00586	Missense_Mutation	SNP	ENST00000306072.5	37	c.470C>T	CCDS10345.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.577101	0.45902	.	.	ENSG00000172183	ENST00000306072;ENST00000546338	T	0.26067	1.76	4.1	4.1	0.47936	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.147776	0.43747	D	0.000525	T	0.49236	0.1545	M	0.77712	2.385	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.52185	-0.8609	10	0.52906	T	0.07	.	12.1937	0.54284	0.0:1.0:0.0:0.0	.	157	Q96AZ6	ISG20_HUMAN	V	157;165	ENSP00000306565:A157V	ENSP00000306565:A157V	A	+	2	0	ISG20	86999690	0.955000	0.32602	0.293000	0.24932	0.087000	0.18053	3.432000	0.52824	2.004000	0.58718	0.467000	0.42956	GCA		PASS	0.602	ISG20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309069.2	NM_002201		18	100	18	100	---	---	---	---
PRC1	9055	broad.mit.edu	37	15	91524812	91524812	+	Missense_Mutation	SNP	C	C	G			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr15:91524812C>G	ENST00000361188.5	-	5	1800	c.589G>C	c.(589-591)Gaa>Caa	p.E197Q	PRC1_ENST00000361919.3_Missense_Mutation_p.E197Q|PRC1_ENST00000556129.1_5'Flank|PRC1_ENST00000442656.2_Missense_Mutation_p.E156Q|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000394249.3_Missense_Mutation_p.E197Q					protein regulator of cytokinesis 1									p.E197Q(1)		endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					ACATCTCTTTCAAAGCTTGTG	0.413																																						uc002bqm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(589-591)GAA>CAA		protein regulator of cytokinesis 1 isoform 1							151.0	132.0	139.0					15																	91524812		2198	4298	6496	SO:0001583	missense	9055				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding	g.chr15:91524812C>G	AF044588	CCDS32334.1, CCDS45352.1, CCDS45353.1, CCDS45353.2	15q26.1	2013-05-29		2006-07-07	ENSG00000198901	ENSG00000198901			9341	protein-coding gene	gene with protein product	"""anaphase spindle elongation 1 homolog (S. cerevisiae)"""	603484				9885575	Standard	NM_003981		Approved	ASE1	uc002bqm.4	O43663	OTTHUMG00000171685	ENST00000361188.5:c.589G>C	15.37:g.91524812C>G	ENSP00000354679:p.Glu197Gln					PRC1_uc002bqn.2_Missense_Mutation_p.E197Q|PRC1_uc002bqo.2_Missense_Mutation_p.E197Q|PRC1_uc010uqs.1_Missense_Mutation_p.E156Q|PRC1_uc010uqt.1_Missense_Mutation_p.E145Q	p.E197Q	NM_003981	NP_003972	O43663	PRC1_HUMAN			5	746	-	Lung NSC(78;0.0987)|all_lung(78;0.175)		197			Dimerization.			Missense_Mutation	SNP	ENST00000361188.5	37	c.589G>C	CCDS45352.1	.	.	.	.	.	.	.	.	.	.	C	35	5.470870	0.96274	.	.	ENSG00000198901	ENST00000394249;ENST00000361919;ENST00000361188;ENST00000442656	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.64114	0.2569	M	0.73372	2.23	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.997;0.997;0.997;0.999	D;D;D;P;D	0.73708	0.981;0.94;0.94;0.901;0.98	T	0.60089	-0.7331	10	0.34782	T	0.22	.	18.6588	0.91465	0.0:1.0:0.0:0.0	.	145;156;197;197;197	B4E238;O43663-3;F8W9B5;O43663-2;O43663	.;.;.;.;PRC1_HUMAN	Q	197;197;197;156	ENSP00000377793:E197Q;ENSP00000354618:E197Q;ENSP00000354679:E197Q;ENSP00000409549:E156Q	ENSP00000354679:E197Q	E	-	1	0	PRC1	89325816	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.271000	0.65553	2.746000	0.94184	0.655000	0.94253	GAA		PASS	0.413	PRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414760.1	NM_003981		13	66	13	66	---	---	---	---
FLYWCH1	84256	broad.mit.edu	37	16	2987296	2987296	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr16:2987296G>T	ENST00000253928.9	+	7	2093	c.1688G>T	c.(1687-1689)cGc>cTc	p.R563L	LA16c-321D4.2_ENST00000573260.1_RNA|FLYWCH1_ENST00000399667.2_Missense_Mutation_p.R612L|FLYWCH1_ENST00000416288.2_Missense_Mutation_p.R562L|FLYWCH1_ENST00000570752.1_3'UTR			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	563						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R563L(1)		kidney(1)|lung(3)	4						ATGGTCATGCGCAGGCACTGC	0.726																																						uc002csd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1687-1689)CGC>CTC		FLYWCH-type zinc finger 1 isoform a							9.0	11.0	11.0					16																	2987296		1917	4086	6003	SO:0001583	missense	84256					nucleus	DNA binding|metal ion binding	g.chr16:2987296G>T	AL136585	CCDS45390.1	16p13.3	2013-01-10	2007-06-21	2007-06-21	ENSG00000059122	ENSG00000059122		"""Zinc fingers"""	25404	protein-coding gene	gene with protein product						11230166, 10997877	Standard	XM_006720959		Approved	DKFZp761A132	uc002csc.3	Q4VC44		ENST00000253928.9:c.1688G>T	16.37:g.2987296G>T	ENSP00000253928:p.Arg563Leu					FLYWCH1_uc002csb.2_Missense_Mutation_p.R562L|FLYWCH1_uc002csc.2_Missense_Mutation_p.R562L|FLYWCH1_uc010bsv.2_Missense_Mutation_p.R287L|FLYWCH1_uc002cse.2_Missense_Mutation_p.R18L	p.R563L	NM_032296	NP_115672	Q4VC44	FWCH1_HUMAN			7	2051	+			563			FLYWCH-type 4.		D3DUA1|Q6ZSQ1|Q8WV62|Q9BQG6|Q9BUS5|Q9HCM0	Missense_Mutation	SNP	ENST00000253928.9	37	c.1688G>T		.	.	.	.	.	.	.	.	.	.	G	17.30	3.355010	0.61293	.	.	ENSG00000059122	ENST00000399667;ENST00000253928;ENST00000416288;ENST00000344592	.	.	.	2.98	2.98	0.34508	Zinc finger, FLYWCH-type (1);	.	.	.	.	T	0.59824	0.2222	L	0.38175	1.15	0.34366	D	0.691569	P;D;D	0.89917	0.954;0.994;1.0	P;D;D	0.91635	0.906;0.988;0.999	T	0.68777	-0.5319	8	0.72032	D	0.01	.	9.6768	0.40045	0.0:0.0:1.0:0.0	.	612;563;562	Q4VC44-3;Q4VC44;Q4VC44-2	.;FWCH1_HUMAN;.	L	612;563;562;175	.	ENSP00000253928:R563L	R	+	2	0	FLYWCH1	2927297	0.996000	0.38824	1.000000	0.80357	0.554000	0.35429	3.081000	0.50120	1.979000	0.57680	0.467000	0.42956	CGC		PASS	0.726	FLYWCH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000436479.1	NM_032296		11	13	11	13	---	---	---	---
RRN3	54700	broad.mit.edu	37	16	15188060	15188060	+	Missense_Mutation	SNP	G	G	A	rs201504364		TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr16:15188060G>A	ENST00000198767.6	-	1	114	c.31C>T	c.(31-33)Ccg>Tcg	p.P11S	RP11-72I8.1_ENST00000569858.1_RNA|PDXDC1_ENST00000535621.2_Intron|RRN3_ENST00000563559.1_Missense_Mutation_p.P11S|RRN3_ENST00000564131.1_Missense_Mutation_p.P11S|RRN3_ENST00000327307.7_5'Flank|RRN3_ENST00000429751.2_Missense_Mutation_p.P11S	NM_018427.3	NP_060897.3	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae)	11					cell proliferation (GO:0008283)|cytoplasm organization (GO:0007028)|gene expression (GO:0010467)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)|nucleolus organization (GO:0007000)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, initiation (GO:2000142)|ribosome biogenesis (GO:0042254)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.P11S(3)		NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						GCATCTCCCGGCAAACGCGTG	0.637																																						uc002dde.2																			3	Substitution - Missense(3)		lung(1)|prostate(1)|central_nervous_system(1)	ovary(1)	1						c.(31-33)CCG>TCG		RRN3 RNA polymerase I transcription factor							15.0	14.0	14.0					16																	15188060		2193	4294	6487	SO:0001583	missense	54700				regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm		g.chr16:15188060G>A	AF227156	CCDS10559.1, CCDS73833.1	16p13.11	2009-10-26	2006-04-04		ENSG00000085721	ENSG00000085721			30346	protein-coding gene	gene with protein product		605121	"""RRN3 RNA polymerase I transcription factor homolog (yeast)"""			10758157, 11250903	Standard	XM_005255375		Approved	DKFZp566E104	uc002dde.3	Q9NYV6	OTTHUMG00000129847	ENST00000198767.6:c.31C>T	16.37:g.15188060G>A	ENSP00000198767:p.Pro11Ser					PDXDC1_uc002ddc.2_Intron|RRN3_uc010uzq.1_Missense_Mutation_p.P11S|RRN3_uc002ddf.1_Missense_Mutation_p.P11S|uc010bve.1_5'Flank	p.P11S	NM_018427	NP_060897	Q9NYV6	RRN3_HUMAN			1	99	-			11					A2RTY9|B4E0J7|B4E3T2|Q3MHU9|Q6IPL4|Q9H4F0	Missense_Mutation	SNP	ENST00000198767.6	37	c.31C>T	CCDS10559.1	.	.	.	.	.	.	.	.	.	.	.	10.34	1.323150	0.24080	.	.	ENSG00000085721	ENST00000198767;ENST00000429751	T;T	0.46819	1.02;0.86	3.13	0.948	0.19561	.	.	.	.	.	T	0.19485	0.0468	N	0.08118	0	0.09310	N	0.999994	B;B;B	0.10296	0.0;0.003;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.26538	-1.0100	9	0.06494	T	0.89	.	3.8332	0.08883	0.1556:0.2546:0.5898:0.0	.	11;11;11	F5H148;Q3MHU9;Q9NYV6	.;.;RRN3_HUMAN	S	11	ENSP00000198767:P11S;ENSP00000402027:P11S	ENSP00000198767:P11S	P	-	1	0	RRN3	15095561	0.001000	0.12720	0.003000	0.11579	0.038000	0.13279	0.733000	0.26087	0.121000	0.18284	0.305000	0.20034	CCG		PASS	0.637	RRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252087.2	NM_018427		3	28	3	28	---	---	---	---
RRN3	54700	broad.mit.edu	37	16	15188066	15188066	+	Missense_Mutation	SNP	G	G	A	rs200006712		TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr16:15188066G>A	ENST00000198767.6	-	1	108	c.25C>T	c.(25-27)Cgt>Tgt	p.R9C	RP11-72I8.1_ENST00000569858.1_RNA|PDXDC1_ENST00000535621.2_Intron|RRN3_ENST00000563559.1_Missense_Mutation_p.R9C|RRN3_ENST00000564131.1_Missense_Mutation_p.R9C|RRN3_ENST00000327307.7_5'Flank|RRN3_ENST00000429751.2_Missense_Mutation_p.R9C	NM_018427.3	NP_060897.3	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae)	9					cell proliferation (GO:0008283)|cytoplasm organization (GO:0007028)|gene expression (GO:0010467)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)|nucleolus organization (GO:0007000)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, initiation (GO:2000142)|ribosome biogenesis (GO:0042254)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.R9C(3)		NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						CCCGGCAAACGCGTGTGAAGC	0.642																																						uc002dde.2																			3	Substitution - Missense(3)		lung(1)|prostate(1)|central_nervous_system(1)	ovary(1)	1						c.(25-27)CGT>TGT		RRN3 RNA polymerase I transcription factor							15.0	13.0	14.0					16																	15188066		2194	4290	6484	SO:0001583	missense	54700				regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm		g.chr16:15188066G>A	AF227156	CCDS10559.1, CCDS73833.1	16p13.11	2009-10-26	2006-04-04		ENSG00000085721	ENSG00000085721			30346	protein-coding gene	gene with protein product		605121	"""RRN3 RNA polymerase I transcription factor homolog (yeast)"""			10758157, 11250903	Standard	XM_005255375		Approved	DKFZp566E104	uc002dde.3	Q9NYV6	OTTHUMG00000129847	ENST00000198767.6:c.25C>T	16.37:g.15188066G>A	ENSP00000198767:p.Arg9Cys					PDXDC1_uc002ddc.2_Intron|RRN3_uc010uzq.1_Missense_Mutation_p.R9C|RRN3_uc002ddf.1_Missense_Mutation_p.R9C|uc010bve.1_5'Flank	p.R9C	NM_018427	NP_060897	Q9NYV6	RRN3_HUMAN			1	93	-			9					A2RTY9|B4E0J7|B4E3T2|Q3MHU9|Q6IPL4|Q9H4F0	Missense_Mutation	SNP	ENST00000198767.6	37	c.25C>T	CCDS10559.1	.	.	.	.	.	.	.	.	.	.	.	18.86	3.712820	0.68730	.	.	ENSG00000085721	ENST00000198767;ENST00000429751	T;T	0.59906	0.68;0.23	3.13	3.13	0.36017	.	.	.	.	.	T	0.59032	0.2164	N	0.19112	0.55	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.77557	0.988;0.99;0.982	T	0.62627	-0.6814	9	0.87932	D	0	.	9.8894	0.41281	0.0:0.0:1.0:0.0	.	9;9;9	F5H148;Q3MHU9;Q9NYV6	.;.;RRN3_HUMAN	C	9	ENSP00000198767:R9C;ENSP00000402027:R9C	ENSP00000198767:R9C	R	-	1	0	RRN3	15095567	1.000000	0.71417	0.965000	0.40720	0.035000	0.12851	2.717000	0.47227	1.752000	0.51891	0.305000	0.20034	CGT		PASS	0.642	RRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252087.2	NM_018427		3	28	3	28	---	---	---	---
ABCC11	85320	broad.mit.edu	37	16	48256530	48256530	+	Silent	SNP	T	T	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr16:48256530T>A	ENST00000394747.1	-	5	1105	c.756A>T	c.(754-756)gtA>gtT	p.V252V	ABCC11_ENST00000394748.1_Silent_p.V252V|ABCC11_ENST00000537808.1_Silent_p.V252V|ABCC11_ENST00000356608.2_Silent_p.V252V|ABCC11_ENST00000353782.5_Silent_p.V252V	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	252	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)	p.V252V(2)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	TGATGTGTATTACAGACTTAA	0.522																																						uc002eff.1																			2	Substitution - coding silent(2)		lung(1)|endometrium(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(754-756)GTA>GTT		ATP-binding cassette, sub-family C, member 11							94.0	85.0	88.0					16																	48256530		2201	4300	6501	SO:0001819	synonymous_variant	85320	Cerumen_Type				integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48256530T>A	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.756A>T	16.37:g.48256530T>A						ABCC11_uc002efg.1_Silent_p.V252V|ABCC11_uc002efh.1_Silent_p.V252V|ABCC11_uc010vgl.1_Silent_p.V252V	p.V252V	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN			5	1106	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	252			ABC transmembrane type-1 1.		Q8TDJ0|Q96JA6|Q9BX80	Silent	SNP	ENST00000394747.1	37	c.756A>T	CCDS10732.1																																																																																				PASS	0.522	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		23	62	23	62	---	---	---	---
PKD1L2	114780	broad.mit.edu	37	16	81209275	81209275	+	RNA	SNP	G	G	C			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr16:81209275G>C	ENST00000527937.1	-	0	399				PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000531391.1_RNA|PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000337114.4_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)	p.L840V(2)|p.L155V(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ACTACTGTCAGCACAAAGTCA	0.522																																						uc002fgh.1																			3	Substitution - Missense(3)		lung(3)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(2518-2520)CTG>GTG		polycystin 1-like 2 isoform a							113.0	113.0	113.0					16																	81209275		2062	4209	6271			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81209275G>C	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81209275G>C						PKD1L2_uc002fgg.1_RNA|PKD1L2_uc002fgi.2_Missense_Mutation_p.L155V|PKD1L2_uc002fgj.2_Missense_Mutation_p.L840V|PKD1L2_uc002fgk.1_5'UTR|PKD1L2_uc002fgl.1_Missense_Mutation_p.L96V	p.L840V	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN			15	2518	-			840			REJ.|Extracellular (Potential).		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000527937.1	37	c.2518C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.81|12.81	2.051020|2.051020	0.36181|0.36181	.|.	.|.	ENSG00000166473|ENSG00000166473	ENST00000526632|ENST00000531391;ENST00000337114;ENST00000527937	.|T;T;T	.|0.28069	.|1.63;1.63;1.63	4.82|4.82	0.468|0.468	0.16732|0.16732	.|Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	.|0.000000	.|0.64402	.|D	.|0.000013	T|T	0.40473|0.40473	0.1118|0.1118	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|P;D;D	.|0.71674	.|0.728;0.989;0.998	.|P;P;D	.|0.71184	.|0.457;0.859;0.972	T|T	0.14924|0.14924	-1.0455|-1.0455	4|9	.|0.37606	.|T	.|0.19	-5.877|-5.877	3.9734|3.9734	0.09464|0.09464	0.365:0.1733:0.4617:0.0|0.365:0.1733:0.4617:0.0	.|.	.|96;840;840	.|Q7Z442-6;Q7Z442-3;Q7Z442	.|.;.;PK1L2_HUMAN	G|V	367|155;840;96	.|ENSP00000436309:L155V;ENSP00000337397:L840V;ENSP00000432818:L96V	.|ENSP00000337397:L840V	A|L	-|-	2|1	0|2	PKD1L2|PKD1L2	79766776|79766776	0.315000|0.315000	0.24571|0.24571	0.959000|0.959000	0.39883|0.39883	0.645000|0.645000	0.38454|0.38454	0.066000|0.066000	0.14489|0.14489	0.086000|0.086000	0.17137|0.17137	0.455000|0.455000	0.32223|0.32223	GCT|CTG		PASS	0.522	PKD1L2-007	KNOWN	basic|exp_conf	protein_coding	polymorphic_pseudogene	OTTHUMT00000387978.1			17	100	17	100	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578235	7578235	+	Missense_Mutation	SNP	T	T	C			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr17:7578235T>C	ENST00000269305.4	-	6	803	c.614A>G	c.(613-615)tAt>tGt	p.Y205C	TP53_ENST00000445888.2_Missense_Mutation_p.Y205C|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.Y205C|TP53_ENST00000359597.4_Missense_Mutation_p.Y205C|TP53_ENST00000420246.2_Missense_Mutation_p.Y205C|TP53_ENST00000413465.2_Missense_Mutation_p.Y205C	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	205	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		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.Y205C(68)|p.Y205S(14)|p.Y205F(8)|p.0?(8)|p.Y112C(5)|p.?(5)|p.Y73C(5)|p.Y73S(1)|p.Y112S(1)|p.E204fs*39(1)|p.E204_N210delEYLDDRN(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)	GTCATCCAAATACTCCACACG	0.542		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		117	Substitution - Missense(102)|Whole gene deletion(8)|Unknown(5)|Deletion - In frame(1)|Deletion - Frameshift(1)	p.Y205C(55)|p.Y205D(13)|p.Y205S(11)|p.Y205F(8)|p.0?(7)|p.Y205H(5)|p.Y205*(4)|p.Y205N(2)|p.K164_P219del(1)|p.Y205fs*42(1)|p.Y112C(1)|p.Y205fs*43(1)|p.E204fs*39(1)|p.Y73C(1)|p.E204_N210delEYLDDRN(1)	lung(20)|upper_aerodigestive_tract(19)|central_nervous_system(10)|large_intestine(9)|biliary_tract(8)|breast(6)|ovary(6)|haematopoietic_and_lymphoid_tissue(5)|endometrium(5)|urinary_tract(5)|bone(5)|soft_tissue(4)|oesophagus(4)|stomach(3)|liver(3)|pancreas(2)|vulva(1)|skin(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						c.(613-615)TAT>TGT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							136.0	121.0	126.0					17																	7578235		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578235T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.614A>G	17.37:g.7578235T>C	ENSP00000269305:p.Tyr205Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.Y205C|TP53_uc002gih.2_Missense_Mutation_p.Y205C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y73C|TP53_uc010cng.1_Missense_Mutation_p.Y73C|TP53_uc002gii.1_Missense_Mutation_p.Y73C|TP53_uc010cnh.1_Missense_Mutation_p.Y205C|TP53_uc010cni.1_Missense_Mutation_p.Y205C|TP53_uc002gij.2_Missense_Mutation_p.Y205C|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y112C|TP53_uc002gio.2_Missense_Mutation_p.Y73C|TP53_uc010vug.1_Missense_Mutation_p.Y166C	p.Y205C	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	808	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	205		Y -> N (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> C (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.614A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	17.85	3.490024	0.64074	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99872	-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36	5.41	4.33	0.51752	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88906	2.99	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.995;0.998;0.995;0.997;0.999;0.997;0.996	D	0.97320	0.9943	10	0.87932	D	0	-5.8058	9.707	0.40222	0.0:0.0827:0.0:0.9173	.	166;205;205;112;205;205;205	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	205;205;205;205;205;205;194;112;73;112;73	ENSP00000410739:Y205C;ENSP00000352610:Y205C;ENSP00000269305:Y205C;ENSP00000398846:Y205C;ENSP00000391127:Y205C;ENSP00000391478:Y205C;ENSP00000425104:Y73C;ENSP00000423862:Y112C	ENSP00000269305:Y205C	Y	-	2	0	TP53	7518960	1.000000	0.71417	0.137000	0.22149	0.045000	0.14185	7.996000	0.88334	1.001000	0.39076	-0.256000	0.11100	TAT		PASS	0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		33	22	33	22	---	---	---	---
MYH3	4621	broad.mit.edu	37	17	10543520	10543520	+	Silent	SNP	G	G	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr17:10543520G>A	ENST00000583535.1	-	22	2562	c.2475C>T	c.(2473-2475)gtC>gtT	p.V825V	MYH3_ENST00000226209.7_Silent_p.V825V	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	825			V -> D (in DA2A). {ECO:0000269|PubMed:16642020}.		actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)	p.V825V(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GCCAGTGCTTGACGTTCATGA	0.468																																						uc002gmq.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(2473-2475)GTC>GTT		myosin, heavy chain 3, skeletal muscle,							130.0	121.0	124.0					17																	10543520		2203	4300	6503	SO:0001819	synonymous_variant	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10543520G>A		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.2475C>T	17.37:g.10543520G>A							p.V825V	NM_002470	NP_002461	P11055	MYH3_HUMAN			21	2552	-			825		V -> D (in DA2A).			Q15492	Silent	SNP	ENST00000583535.1	37	c.2475C>T	CCDS11157.1																																																																																				PASS	0.468	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		43	96	43	96	---	---	---	---
TRIM16L	147166	broad.mit.edu	37	17	18638695	18638695	+	Missense_Mutation	SNP	G	G	C			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr17:18638695G>C	ENST00000449552.2	+	7	2453	c.969G>C	c.(967-969)aaG>aaC	p.K323N	TRIM16L_ENST00000414850.2_3'UTR|TRIM16L_ENST00000572555.1_Missense_Mutation_p.K323N|TRIM16L_ENST00000395671.4_Missense_Mutation_p.K323N|TRIM16L_ENST00000395672.2_Missense_Mutation_p.K323N|TRIM16L_ENST00000395902.3_Missense_Mutation_p.K377N|TRIM16L_ENST00000571708.1_Missense_Mutation_p.K323N			Q309B1	TR16L_HUMAN	tripartite motif containing 16-like	323	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)		p.K323N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						TTTCCAAGAAGGAAAACGCCA	0.512																																						uc002gug.1																			1	Substitution - Missense(1)		lung(1)		0						c.(967-969)AAG>AAC		tripartite motif-containing 16-like							49.0	49.0	49.0					17																	18638695		2203	4298	6501	SO:0001583	missense	147166					cytoplasm		g.chr17:18638695G>C	DQ232882	CCDS32588.1	17p11.2	2011-02-10	2011-01-25		ENSG00000108448	ENSG00000108448			32670	protein-coding gene	gene with protein product			"""tripartite motif-containing 16-like"""				Standard	XM_005256479		Approved	TRIM70	uc002gui.1	Q309B1	OTTHUMG00000059050	ENST00000449552.2:c.969G>C	17.37:g.18638695G>C	ENSP00000461386:p.Lys323Asn					TRIM16L_uc010vyf.1_Missense_Mutation_p.K377N|TRIM16L_uc002guh.1_Missense_Mutation_p.K323N|TRIM16L_uc010cqg.1_Missense_Mutation_p.K425N|TRIM16L_uc002gui.1_Missense_Mutation_p.K323N|TRIM16L_uc010vyg.1_Missense_Mutation_p.K323N|TRIM16L_uc010vyh.1_3'UTR	p.K323N	NM_001037330	NP_001032407	Q309B1	TR16L_HUMAN			10	1656	+			323			B30.2/SPRY.		A0PK10|B2RUW6|B4DQK2|B4DWQ8	Missense_Mutation	SNP	ENST00000449552.2	37	c.969G>C	CCDS32588.1	.	.	.	.	.	.	.	.	.	.	g	12.15	1.851135	0.32699	.	.	ENSG00000108448	ENST00000395902;ENST00000395672;ENST00000395671	T;T;T	0.61040	0.14;0.14;0.14	3.35	2.36	0.29203	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.121454	0.53938	U	0.000057	T	0.48003	0.1476	L	0.33485	1.01	0.41993	D	0.990859	D;D;D	0.52996	0.957;0.957;0.957	P;P;P	0.49752	0.621;0.621;0.621	T	0.32134	-0.9918	10	0.23302	T	0.38	-21.2262	7.4862	0.27435	0.1403:0.0:0.8597:0.0	.	377;539;323	B4DE22;B3KMJ2;Q309B1	.;.;TR16L_HUMAN	N	377;323;323	ENSP00000379239:K377N;ENSP00000379031:K323N;ENSP00000379030:K323N	ENSP00000379030:K323N	K	+	3	2	TRIM16L	18579420	1.000000	0.71417	0.997000	0.53966	0.385000	0.30292	1.059000	0.30517	0.580000	0.29522	0.194000	0.17425	AAG		PASS	0.512	TRIM16L-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130670.3	NM_001037330		30	45	30	45	---	---	---	---
SLFN13	146857	broad.mit.edu	37	17	33767706	33767706	+	Missense_Mutation	SNP	T	T	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr17:33767706T>A	ENST00000285013.6	-	6	2877	c.2602A>T	c.(2602-2604)Atc>Ttc	p.I868F	SLFN13_ENST00000526861.1_Missense_Mutation_p.I868F|SLFN13_ENST00000360502.2_Missense_Mutation_p.I550F|SLFN13_ENST00000534689.1_Missense_Mutation_p.I550F|SLFN13_ENST00000533791.1_Missense_Mutation_p.I868F|SLFN13_ENST00000542635.1_Missense_Mutation_p.I868F	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	868						intracellular (GO:0005622)	ATP binding (GO:0005524)	p.I868F(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CTTGGATGGATCCCAAACACT	0.483																																						uc002hjk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(2602-2604)ATC>TTC		schlafen family member 13							219.0	195.0	203.0					17																	33767706		2203	4300	6503	SO:0001583	missense	146857					intracellular	ATP binding	g.chr17:33767706T>A	AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.2602A>T	17.37:g.33767706T>A	ENSP00000285013:p.Ile868Phe					SLFN13_uc010wch.1_Missense_Mutation_p.I868F|SLFN13_uc002hjl.2_Missense_Mutation_p.I868F|SLFN13_uc010ctt.2_Missense_Mutation_p.I550F|SLFN13_uc002hjm.2_Missense_Mutation_p.I537F	p.I868F	NM_144682	NP_653283	Q68D06	SLN13_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	4	2932	-			868					E1P645|Q658M1|Q6ZS51|Q96A81	Missense_Mutation	SNP	ENST00000285013.6	37	c.2602A>T	CCDS32620.1	.	.	.	.	.	.	.	.	.	.	t	16.03	3.007694	0.54361	.	.	ENSG00000154760	ENST00000285013;ENST00000360502;ENST00000526861;ENST00000542635;ENST00000534689	D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54	3.27	0.633	0.17712	.	0.146551	0.31697	N	0.007202	D	0.84019	0.5380	M	0.71206	2.165	0.23050	N	0.998372	P;D	0.65815	0.476;0.995	B;D	0.70487	0.275;0.969	T	0.71951	-0.4437	10	0.59425	D	0.04	.	3.4125	0.07364	0.233:0.0:0.2402:0.5268	.	550;868	Q68D06-2;Q68D06	.;SLN13_HUMAN	F	868;550;868;868;550	ENSP00000285013:I868F;ENSP00000353692:I550F;ENSP00000434439:I868F;ENSP00000444016:I868F;ENSP00000435442:I550F	ENSP00000285013:I868F	I	-	1	0	SLFN13	30791819	0.004000	0.15560	0.338000	0.25549	0.342000	0.28953	-0.123000	0.10611	0.412000	0.25729	0.334000	0.21626	ATC		PASS	0.483	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381883.1	NM_144682		57	104	57	104	---	---	---	---
ACACA	31	broad.mit.edu	37	17	35487070	35487070	+	Silent	SNP	G	G	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr17:35487070G>T	ENST00000394406.2	-	46	5833	c.5643C>A	c.(5641-5643)acC>acA	p.T1881T	ACACA_ENST00000360679.3_Silent_p.T1823T|ACACA_ENST00000353139.5_Silent_p.T1918T|ACACA_ENST00000335166.5_Silent_p.T1803T|ACACA_ENST00000361253.5_Silent_p.T7T	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1881	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.T1823T(1)|p.T1918T(1)		NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CAGTGCAGTGGGTCACCCCAT	0.532																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	uc002hnm.2																			2	Substitution - coding silent(2)		lung(2)	large_intestine(1)|ovary(1)	2						c.(5641-5643)ACC>ACA		acetyl-Coenzyme A carboxylase alpha isoform 2	Biotin(DB00121)						198.0	170.0	179.0					17																	35487070		2203	4300	6503	SO:0001819	synonymous_variant	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35487070G>T	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.5643C>A	17.37:g.35487070G>T						ACACA_uc002hnk.2_Silent_p.T1803T|ACACA_uc002hnl.2_Silent_p.T1823T|ACACA_uc002hnn.2_Silent_p.T1881T|ACACA_uc002hno.2_Silent_p.T1918T|ACACA_uc010cuy.2_Silent_p.T526T|ACACA_uc010wdc.1_Silent_p.T7T	p.T1881T	NM_198836	NP_942133	Q13085	ACACA_HUMAN			46	5834	-		Breast(25;0.00157)|Ovarian(249;0.15)	1881			Carboxyltransferase.		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Silent	SNP	ENST00000394406.2	37	c.5643C>A	CCDS11317.1																																																																																				PASS	0.532	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		54	83	54	83	---	---	---	---
OR4D2	124538	broad.mit.edu	37	17	56247203	56247203	+	Missense_Mutation	SNP	C	C	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr17:56247203C>T	ENST00000545221.1	+	1	187	c.187C>T	c.(187-189)Ctc>Ttc	p.L63F		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	63						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L63F(1)		breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						GTACTTTCTGCTCCGAAACCT	0.473																																						uc010wnp.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(187-189)CTC>TTC		olfactory receptor, family 4, subfamily D,							203.0	185.0	191.0					17																	56247203		2203	4300	6503	SO:0001583	missense	124538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:56247203C>T		CCDS32688.1	17q22	2013-09-23			ENSG00000255713	ENSG00000255713		"""GPCR / Class A : Olfactory receptors"""	8294	protein-coding gene	gene with protein product							Standard	NM_001004707		Approved		uc010wnp.2	P58180	OTTHUMG00000178801	ENST00000545221.1:c.187C>T	17.37:g.56247203C>T	ENSP00000441354:p.Leu63Phe						p.L63F	NM_001004707	NP_001004707	P58180	OR4D2_HUMAN			1	187	+			63			Helical; Name=2; (Potential).		Q6IFN8|Q96R75	Missense_Mutation	SNP	ENST00000545221.1	37	c.187C>T	CCDS32688.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.954490	0.73902	.	.	ENSG00000255713	ENST00000545221	T	0.14391	2.51	5.4	5.4	0.78164	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000187	T	0.55577	0.1929	H	0.98048	4.135	0.43300	D	0.995292	D	0.89917	1.0	D	0.91635	0.999	T	0.72921	-0.4145	10	0.87932	D	0	-39.2061	17.0178	0.86424	0.0:1.0:0.0:0.0	.	63	P58180	OR4D2_HUMAN	F	63	ENSP00000441354:L63F	ENSP00000441354:L63F	L	+	1	0	OR4D2	53602202	0.748000	0.28294	0.998000	0.56505	0.942000	0.58702	0.897000	0.28390	2.698000	0.92095	0.609000	0.83330	CTC		PASS	0.473	OR4D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443366.1			100	130	100	130	---	---	---	---
MRC2	9902	broad.mit.edu	37	17	60753804	60753805	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr17:60753804_60753805GG>TT	ENST00000303375.5	+	11	2148_2149	c.1746_1747GG>TT	c.(1744-1749)acGGcc>acTTcc	p.A583S		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	583	C-type lectin 3. {ECO:0000255|PROSITE- ProRule:PRU00040}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)	p.A583S(2)|p.T582T(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						ACTTCTGGACGGCCCTGCAGGA	0.609																																						uc002jad.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1744-1746)ACG>ACT|c.(1747-1749)GCC>TCC		mannose receptor, C type 2																																				SO:0001583	missense	9902				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr17:60753804G>T|g.chr17:60753805G>T	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		Exception_encountered	17.37:g.60753804_60753805delinsTT	ENSP00000307513:p.Ala583Ser					MRC2_uc002jac.2_Silent_p.T582T|MRC2_uc010ddq.1_RNA|MRC2_uc002jac.2_Missense_Mutation_p.A583S|MRC2_uc010ddq.1_RNA	p.T582T|p.A583S	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN			11	2148|2149	+			582|583			Extracellular (Potential).|C-type lectin 3.		A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Silent|Missense_Mutation	SNP	ENST00000303375.5	37	c.1746G>T|c.1747G>T	CCDS11634.1																																																																																				PASS	0.609	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1			45	63	45	63	---	---	---	---
HELZ	9931	broad.mit.edu	37	17	65134182	65134182	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr17:65134182C>A	ENST00000358691.5	-	22	2984	c.2818G>T	c.(2818-2820)Gta>Tta	p.V940L	HELZ_ENST00000580168.1_Missense_Mutation_p.V941L	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	940						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.V940L(1)		NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CCCCACGCTACTGGCCACTTC	0.398																																						uc010wqk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(2821-2823)GTA>TTA		helicase with zinc finger domain							148.0	149.0	149.0					17																	65134182		2135	4239	6374	SO:0001583	missense	9931							g.chr17:65134182C>A	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.2818G>T	17.37:g.65134182C>A	ENSP00000351524:p.Val940Leu					HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.V940L	p.V941L	NM_014877	NP_055692					22	3008	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	c.2821G>T	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.214879	0.58452	.	.	ENSG00000198265	ENST00000358691	T	0.81330	-1.48	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.72170	0.3427	N	0.12663	0.25	0.80722	D	1	P;B	0.45348	0.856;0.274	P;B	0.46718	0.525;0.18	T	0.70204	-0.4936	10	0.17832	T	0.49	-14.3894	18.8583	0.92262	0.0:1.0:0.0:0.0	.	941;940	B7ZLW2;P42694	.;HELZ_HUMAN	L	940	ENSP00000351524:V940L	ENSP00000351524:V940L	V	-	1	0	HELZ	62564644	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.437000	0.82529	0.655000	0.94253	GTA		PASS	0.398	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		48	80	48	80	---	---	---	---
GRIN2C	2905	broad.mit.edu	37	17	72842296	72842296	+	Silent	SNP	G	G	C			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr17:72842296G>C	ENST00000293190.5	-	11	2405	c.2259C>G	c.(2257-2259)gtC>gtG	p.V753V	GRIN2C_ENST00000347612.4_Silent_p.V753V	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	753					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)	p.V753V(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGGTAGCAAAGACCTTGCCAG	0.587																																						uc002jlt.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|breast(2)	4						c.(2257-2259)GTC>GTG		N-methyl-D-aspartate receptor subunit 2C	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)						196.0	137.0	157.0					17																	72842296		2203	4300	6503	SO:0001819	synonymous_variant	2905				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity	g.chr17:72842296G>C		CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.2259C>G	17.37:g.72842296G>C						GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Silent_p.V753V	p.V753V	NM_000835	NP_000826	Q14957	NMDE3_HUMAN			11	2415	-	all_lung(278;0.172)|Lung NSC(278;0.207)		753			Extracellular (Potential).		B2RTT1	Silent	SNP	ENST00000293190.5	37	c.2259C>G	CCDS32724.1																																																																																				PASS	0.587	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1			7	146	7	146	---	---	---	---
GRIN2C	2905	broad.mit.edu	37	17	72846477	72846477	+	Silent	SNP	G	G	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr17:72846477G>A	ENST00000293190.5	-	6	1505	c.1359C>T	c.(1357-1359)tgC>tgT	p.C453C	GRIN2C_ENST00000578159.1_5'Flank|GRIN2C_ENST00000347612.4_Silent_p.C453C	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	453					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)	p.C453C(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ATCCCTTACAGCAGAGCTTGG	0.617																																						uc002jlt.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|breast(2)	4						c.(1357-1359)TGC>TGT		N-methyl-D-aspartate receptor subunit 2C	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)						119.0	113.0	115.0					17																	72846477		2203	4300	6503	SO:0001819	synonymous_variant	2905				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity	g.chr17:72846477G>A		CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.1359C>T	17.37:g.72846477G>A						GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Silent_p.C453C	p.C453C	NM_000835	NP_000826	Q14957	NMDE3_HUMAN			6	1515	-	all_lung(278;0.172)|Lung NSC(278;0.207)		453			Extracellular (Potential).		B2RTT1	Silent	SNP	ENST00000293190.5	37	c.1359C>T	CCDS32724.1																																																																																				PASS	0.617	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1			100	118	100	118	---	---	---	---
HID1	283987	broad.mit.edu	37	17	72955976	72955976	+	Splice_Site	SNP	C	C	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr17:72955976C>T	ENST00000425042.2	-	8	1085	c.1008G>A	c.(1006-1008)gaG>gaA	p.E336E	HID1_ENST00000532900.1_5'Flank	NM_030630.2	NP_085133.1	Q8IV36	HID1_HUMAN	HID1 domain containing	336					intracellular protein transport (GO:0006886)|response to brefeldin A (GO:0031001)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)		p.E336E(1)									CTGGACTTGCCTCCTCACGAT	0.602																																						uc002jmj.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(1006-1008)GAG>GAA		hypothetical protein LOC283987							124.0	117.0	120.0					17																	72955976		2203	4300	6503	SO:0001630	splice_region_variant	283987					integral to membrane|plasma membrane	protein binding	g.chr17:72955976C>T		CCDS32726.1	17q25.1	2012-10-10	2012-10-10	2012-10-10	ENSG00000167861	ENSG00000167861			15736	protein-coding gene	gene with protein product	"""downregulated in multiple cancer 1"""	605752	"""chromosome 17 open reading frame 28"""	C17orf28		11281419, 21337012	Standard	NM_030630		Approved	DMC1, HID-1	uc002jmj.4	Q8IV36	OTTHUMG00000166490	ENST00000425042.2:c.1008+1G>A	17.37:g.72955976C>T						C17orf28_uc010wrs.1_Silent_p.E135E|C17orf28_uc002jmk.2_Silent_p.E335E	p.E336E	NM_030630	NP_085133	Q8IV36	CQ028_HUMAN			8	1157	-	all_lung(278;0.151)|Lung NSC(278;0.185)		336					Q8N5L6|Q8TE83|Q9NT34	Silent	SNP	ENST00000425042.2	37	c.1008G>A	CCDS32726.1																																																																																				PASS	0.602	HID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390011.2	NM_030630	Silent	98	104	98	104	---	---	---	---
CCDC40	55036	broad.mit.edu	37	17	78073416	78073416	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr17:78073416C>A	ENST00000397545.4	+	20	3298	c.3271C>A	c.(3271-3273)Cag>Aag	p.Q1091K	GAA_ENST00000302262.3_5'Flank|GAA_ENST00000390015.3_5'Flank	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	1091					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)		p.Q1091K(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CCGCTCCAAGCAGTCCCTAGT	0.632																																						uc010dht.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(3271-3273)CAG>AAG		coiled-coil domain containing 40							43.0	50.0	48.0					17																	78073416		2015	4181	6196	SO:0001583	missense	55036				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		g.chr17:78073416C>A	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.3271C>A	17.37:g.78073416C>A	ENSP00000380679:p.Gln1091Lys					CCDC40_uc002jxm.3_Missense_Mutation_p.Q874K|CCDC40_uc002jxn.3_Missense_Mutation_p.Q487K|GAA_uc002jxo.2_5'Flank|GAA_uc002jxp.2_5'Flank|GAA_uc002jxq.2_5'Flank	p.Q1091K	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		20	3298	+	all_neural(118;0.167)		1091					A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	ENST00000397545.4	37	c.3271C>A	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	C	10.29	1.308983	0.23821	.	.	ENSG00000141519	ENST00000397545	T	0.45276	0.9	4.76	-1.61	0.08399	.	.	.	.	.	T	0.30510	0.0767	M	0.66939	2.045	0.09310	N	1	B;B	0.16396	0.017;0.006	B;B	0.13407	0.007;0.009	T	0.38714	-0.9648	9	0.07325	T	0.83	-3.0366	3.8606	0.08994	0.3929:0.3041:0.2301:0.0728	.	1091;874	Q4G0X9;Q4G0X9-3	CCD40_HUMAN;.	K	1091	ENSP00000380679:Q1091K	ENSP00000380679:Q1091K	Q	+	1	0	CCDC40	75688011	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.236000	0.09003	-0.336000	0.08438	-0.176000	0.13171	CAG		PASS	0.632	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		4	68	4	68	---	---	---	---
CEP131	22994	broad.mit.edu	37	17	79164546	79164546	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr17:79164546C>A	ENST00000269392.4	-	24	3256	c.3009G>T	c.(3007-3009)gaG>gaT	p.E1003D	AZI1_ENST00000450824.2_Missense_Mutation_p.E1000D|AZI1_ENST00000374782.3_Missense_Mutation_p.E964D|AZI1_ENST00000575907.1_Missense_Mutation_p.E967D	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		1003					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)	p.E1000D(1)|p.E964D(1)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GGTCCTCGAACTCCTGGCGGA	0.692																																						uc002jzp.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|large_intestine(1)|ovary(1)	4						c.(3007-3009)GAG>GAT		5-azacytidine induced 1 isoform a							21.0	22.0	21.0					17																	79164546		2198	4294	6492	SO:0001583	missense	22994				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle		g.chr17:79164546C>A																												ENST00000269392.4:c.3009G>T	17.37:g.79164546C>A	ENSP00000269392:p.Glu1003Asp					AZI1_uc002jzm.1_Missense_Mutation_p.E435D|AZI1_uc002jzn.1_Missense_Mutation_p.E1000D|AZI1_uc002jzo.1_Missense_Mutation_p.E964D|AZI1_uc010wum.1_Missense_Mutation_p.E967D|AZI1_uc002jzq.2_Missense_Mutation_p.E151D	p.E1003D	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		24	3209	-	all_neural(118;0.0804)|Melanoma(429;0.242)		1003					A6NHI8|B2RN11|Q96F50	Missense_Mutation	SNP	ENST00000269392.4	37	c.3009G>T		.	.	.	.	.	.	.	.	.	.	C	15.83	2.947593	0.53186	.	.	ENSG00000141577	ENST00000450824;ENST00000374782;ENST00000269392	T;T;T	0.18960	2.19;2.18;2.2	4.33	2.16	0.27623	.	0.000000	0.85682	D	0.000000	T	0.38799	0.1054	M	0.66939	2.045	0.43207	D	0.995062	B;B;D;D	0.76494	0.228;0.278;0.999;0.999	B;B;D;D	0.68621	0.163;0.333;0.959;0.959	T	0.16719	-1.0393	10	0.44086	T	0.13	.	10.8331	0.46671	0.0:0.815:0.0:0.185	.	1000;1003;964;1000	B2RN10;Q9UPN4;Q9UPN4-3;Q9UPN4-2	.;AZI1_HUMAN;.;.	D	1000;964;1003	ENSP00000393583:E1000D;ENSP00000363914:E964D;ENSP00000269392:E1003D	ENSP00000269392:E1003D	E	-	3	2	AZI1	76779141	1.000000	0.71417	1.000000	0.80357	0.723000	0.41478	1.067000	0.30616	1.037000	0.40024	0.591000	0.81541	GAG		PASS	0.692	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000256070.1			6	37	6	37	---	---	---	---
MYOM1	8736	broad.mit.edu	37	18	3215167	3215167	+	Missense_Mutation	SNP	T	T	C			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr18:3215167T>C	ENST00000356443.4	-	2	388	c.55A>G	c.(55-57)Aac>Gac	p.N19D	MYOM1_ENST00000261606.7_Missense_Mutation_p.N19D|MYOM1_ENST00000400569.3_Missense_Mutation_p.N19D|RP13-270P17.2_ENST00000580139.1_RNA	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	19					muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)	p.N19D(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ACGTCCTTGTTGCGGTAGCTG	0.587																																						uc002klp.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(55-57)AAC>GAC		myomesin 1 isoform a							50.0	54.0	53.0					18																	3215167		2109	4244	6353	SO:0001583	missense	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3215167T>C	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.55A>G	18.37:g.3215167T>C	ENSP00000348821:p.Asn19Asp					MYOM1_uc002klq.2_Missense_Mutation_p.N19D	p.N19D	NM_003803	NP_003794	P52179	MYOM1_HUMAN			2	389	-			19					Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	c.55A>G	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	T	8.483	0.860167	0.17178	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.50277	0.88;0.89;0.75	5.41	0.174	0.15040	.	0.715429	0.14520	N	0.314542	T	0.25901	0.0631	N	0.19112	0.55	0.21147	N	0.999772	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.16335	-1.0406	10	0.59425	D	0.04	.	1.7861	0.03042	0.1208:0.1495:0.2789:0.4508	.	19;19	P52179-2;P52179	.;MYOM1_HUMAN	D	19	ENSP00000348821:N19D;ENSP00000383413:N19D;ENSP00000261606:N19D	ENSP00000261606:N19D	N	-	1	0	MYOM1	3205167	0.710000	0.27896	0.161000	0.22692	0.920000	0.55202	1.218000	0.32467	-0.193000	0.10415	0.533000	0.62120	AAC		PASS	0.587	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		17	38	17	38	---	---	---	---
LAMA1	284217	broad.mit.edu	37	18	6943182	6943182	+	Missense_Mutation	SNP	G	G	C			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr18:6943182G>C	ENST00000389658.3	-	62	9157	c.9064C>G	c.(9064-9066)Cct>Gct	p.P3022A		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	3022	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.P3022A(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TACATACCAGGATAGCCACCA	0.498																																						uc002knm.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(9064-9066)CCT>GCT		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						191.0	135.0	154.0					18																	6943182		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6943182G>C	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.9064C>G	18.37:g.6943182G>C	ENSP00000374309:p.Pro3022Ala					LAMA1_uc002knk.2_Missense_Mutation_p.P352A|LAMA1_uc002knl.2_Missense_Mutation_p.P475A|LAMA1_uc010wzj.1_Missense_Mutation_p.P2498A	p.P3022A	NM_005559	NP_005550	P25391	LAMA1_HUMAN			62	9158	-		Colorectal(10;0.172)	3022			Laminin G-like 5.			Missense_Mutation	SNP	ENST00000389658.3	37	c.9064C>G	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.874913	0.91664	.	.	ENSG00000101680	ENST00000389658	D	0.81908	-1.55	5.86	5.86	0.93980	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.93265	0.7854	M	0.89534	3.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.93764	0.7069	10	0.87932	D	0	.	20.1772	0.98182	0.0:0.0:1.0:0.0	.	3022;352	P25391;B3KSD8	LAMA1_HUMAN;.	A	3022	ENSP00000374309:P3022A	ENSP00000374309:P3022A	P	-	1	0	LAMA1	6933182	1.000000	0.71417	0.969000	0.41365	0.982000	0.71751	9.324000	0.96373	2.778000	0.95560	0.655000	0.94253	CCT		PASS	0.498	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		31	69	31	69	---	---	---	---
MTCL1	23255	broad.mit.edu	37	18	8784453	8784453	+	Missense_Mutation	SNP	G	G	T	rs375280275		TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr18:8784453G>T	ENST00000306329.11	+	5	2423	c.2423G>T	c.(2422-2424)cGg>cTg	p.R808L	SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000400050.3_Missense_Mutation_p.R448L|SOGA2_ENST00000517570.1_Missense_Mutation_p.R448L|SOGA2_ENST00000359865.3_Missense_Mutation_p.R448L														p.R448L(1)									CTGAAGGCCCGGGAGGACTCT	0.622																																						uc002knr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1342-1344)CGG>CTG		hypothetical protein LOC23255							65.0	79.0	74.0					18																	8784453		2202	4300	6502	SO:0001583	missense	23255							g.chr18:8784453G>T																												ENST00000306329.11:c.2423G>T	18.37:g.8784453G>T	ENSP00000305027:p.Arg808Leu					KIAA0802_uc002knq.2_Missense_Mutation_p.R448L|KIAA0802_uc010dkw.1_Missense_Mutation_p.R286L	p.R448L	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN			6	1485	+			799						Missense_Mutation	SNP	ENST00000306329.11	37	c.1343G>T		.	.	.	.	.	.	.	.	.	.	G	5.193	0.221188	0.09863	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050	T;T;T	0.31769	1.48;1.48;1.48	5.31	-0.874	0.10631	.	0.351583	0.20663	N	0.087990	T	0.17280	0.0415	L	0.39020	1.185	0.58432	D	0.999991	P;B	0.38597	0.639;0.427	B;B	0.33846	0.131;0.171	T	0.03619	-1.1019	10	0.45353	T	0.12	-14.819	5.528	0.16968	0.5115:0.1457:0.3428:0.0	.	469;448	A8MQ54;Q9Y4B5-3	.;.	L	469;448;448;448	ENSP00000429556:R448L;ENSP00000352927:R448L;ENSP00000382924:R448L	ENSP00000305027:R469L	R	+	2	0	CCDC165	8774453	0.074000	0.21230	0.038000	0.18304	0.346000	0.29079	1.184000	0.32053	-0.078000	0.12730	-0.216000	0.12614	CGG		PASS	0.622	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			63	119	63	119	---	---	---	---
TAF4B	6875	broad.mit.edu	37	18	23866131	23866131	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr18:23866131G>A	ENST00000269142.5	+	7	2256	c.1258G>A	c.(1258-1260)Gca>Aca	p.A420T	TAF4B_ENST00000578121.1_Missense_Mutation_p.A420T|TAF4B_ENST00000400466.2_Missense_Mutation_p.A420T	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	420					gene expression (GO:0010467)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|NF-kappaB binding (GO:0051059)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A420T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			CCCAACTGCTGCAACAGGAGG	0.507																																						uc002kvu.3																			1	Substitution - Missense(1)		lung(1)	lung(1)|central_nervous_system(1)|skin(1)	3						c.(1258-1260)GCA>ACA		TAF4b RNA polymerase II, TATA box binding							70.0	69.0	69.0					18																	23866131		1977	4167	6144	SO:0001583	missense	6875				transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity	g.chr18:23866131G>A	Y09321	CCDS42421.1	18q11.1	2008-08-01	2002-08-29	2001-12-07		ENSG00000141384			11538	protein-coding gene	gene with protein product	"""TATA box binding protein (TBP)-associated factor 4B"""	601689	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C2, 105kD"""	TAF2C2		8858156, 10849440	Standard	XM_005258339		Approved	TAFII105	uc002kvu.4	Q92750		ENST00000269142.5:c.1258G>A	18.37:g.23866131G>A	ENSP00000269142:p.Ala420Thr					TAF4B_uc002kvs.3_RNA|TAF4B_uc002kvt.3_Missense_Mutation_p.A420T	p.A420T	NM_005640	NP_005631	Q92750	TAF4B_HUMAN	Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)		7	1747	+	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		420					Q29YA4|Q29YA5	Missense_Mutation	SNP	ENST00000269142.5	37	c.1258G>A	CCDS42421.1	.	.	.	.	.	.	.	.	.	.	g	9.880	1.201319	0.22121	.	.	ENSG00000141384	ENST00000418698;ENST00000269142;ENST00000400466	T;T;T	0.24908	1.83;1.89;1.83	5.17	3.24	0.37175	.	0.873924	0.09797	N	0.754616	T	0.10508	0.0257	N	0.08118	0	0.09310	N	1	B;B	0.14438	0.01;0.001	B;B	0.06405	0.002;0.002	T	0.36939	-0.9727	10	0.10111	T	0.7	-0.1963	3.8903	0.09116	0.2456:0.1936:0.5607:0.0	.	420;420	Q92750;A4PBF7	TAF4B_HUMAN;.	T	420	ENSP00000389365:A420T;ENSP00000269142:A420T;ENSP00000383314:A420T	ENSP00000269142:A420T	A	+	1	0	TAF4B	22120129	0.000000	0.05858	0.076000	0.20297	0.911000	0.54048	-0.015000	0.12634	1.420000	0.47138	0.552000	0.68991	GCA		PASS	0.507	TAF4B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000446260.3	NM_005640		33	83	33	83	---	---	---	---
RIT2	6014	broad.mit.edu	37	18	40503645	40503645	+	Silent	SNP	T	T	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr18:40503645T>A	ENST00000326695.5	-	4	489	c.318A>T	c.(316-318)tcA>tcT	p.S106S	RIT2_ENST00000590910.1_Missense_Mutation_p.H127L|RIT2_ENST00000282028.4_Silent_p.S106S|RIT2_ENST00000589109.1_Silent_p.S106S	NM_002930.2	NP_002921.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	106					neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.S106S(1)		endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCTCCTGAAATGATTGACGGT	0.483																																						uc002lav.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(316-318)TCA>TCT		Ras-like without CAAX 2							222.0	224.0	223.0					18																	40503645		2203	4300	6503	SO:0001819	synonymous_variant	6014				nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity	g.chr18:40503645T>A	BC018060	CCDS11921.1, CCDS62431.1	18q12.3	2014-05-09	2002-09-11	2002-09-13	ENSG00000152214	ENSG00000152214			10017	protein-coding gene	gene with protein product		609592	"""Ric (Drosophila)-like, expressed in neurons"""	RIN		8824319, 8918462	Standard	NM_002930		Approved	RIBA	uc002lav.4	Q99578	OTTHUMG00000132611	ENST00000326695.5:c.318A>T	18.37:g.40503645T>A						RIT2_uc010dnf.2_Silent_p.S106S	p.S106S	NM_002930	NP_002921	Q99578	RIT2_HUMAN			4	491	-			106					B2R9L1|O15295|Q8TD69|Q8WVF6|Q92964	Silent	SNP	ENST00000326695.5	37	c.318A>T	CCDS11921.1																																																																																				PASS	0.483	RIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255852.1	NM_002930		117	261	117	261	---	---	---	---
SLC14A1	6563	broad.mit.edu	37	18	43314309	43314309	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr18:43314309G>T	ENST00000321925.4	+	5	644	c.412G>T	c.(412-414)Gac>Tac	p.D138Y	SLC14A1_ENST00000535474.1_Missense_Mutation_p.D6Y|SLC14A1_ENST00000586142.1_Missense_Mutation_p.D138Y|SLC14A1_ENST00000415427.3_Missense_Mutation_p.D194Y|SLC14A1_ENST00000402943.2_Missense_Mutation_p.D33Y|SLC14A1_ENST00000502059.2_Missense_Mutation_p.D30Y|SLC14A1_ENST00000591943.1_3'UTR|SLC14A1_ENST00000589700.1_Missense_Mutation_p.D138Y|RP11-116O18.3_ENST00000589510.1_RNA|RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000436407.3_Missense_Mutation_p.D194Y	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1 (Kidd blood group)	138					transmembrane transport (GO:0055085)|urea transmembrane transport (GO:0071918)|urea transport (GO:0015840)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	urea channel activity (GO:0015265)|urea transmembrane transporter activity (GO:0015204)|water transmembrane transporter activity (GO:0005372)	p.D194Y(1)|p.D138Y(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						TGTCTTTTCGGACAAGGGAGA	0.448																																						uc010xcn.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)|pancreas(1)	2						c.(412-414)GAC>TAC		solute carrier family 14 (urea transporter),							213.0	189.0	197.0					18																	43314309		2203	4300	6503	SO:0001583	missense	6563					integral to plasma membrane	urea transmembrane transporter activity	g.chr18:43314309G>T	BC040128	CCDS11925.1, CCDS45860.1	18q11-q12	2014-07-19	2014-01-02		ENSG00000141469	ENSG00000141469		"""Blood group antigens"", ""Solute carriers"""	10918	protein-coding gene	gene with protein product		613868	"""Kidd blood group"", ""solute carrier family 14 (urea transporter), member 1"""	JK		7797558	Standard	NM_001146037		Approved	HsT1341, RACH1, RACH2	uc010dnk.3	Q13336	OTTHUMG00000132617	ENST00000321925.4:c.412G>T	18.37:g.43314309G>T	ENSP00000318546:p.Asp138Tyr					SLC14A1_uc010dnk.2_Missense_Mutation_p.D194Y|SLC14A1_uc002lbf.3_Missense_Mutation_p.D138Y|SLC14A1_uc002lbg.3_RNA|SLC14A1_uc010xco.1_Missense_Mutation_p.D33Y|SLC14A1_uc002lbh.3_Missense_Mutation_p.D30Y|SLC14A1_uc002lbi.3_Missense_Mutation_p.D6Y|SLC14A1_uc002lbj.3_Missense_Mutation_p.D194Y|SLC14A1_uc002lbk.3_Missense_Mutation_p.D138Y	p.D138Y	NM_001146036	NP_001139508	Q13336	UT1_HUMAN			6	731	+			138					A8K0P3|B3KR62|B3KVX3|C9EHF2|Q86VM5	Missense_Mutation	SNP	ENST00000321925.4	37	c.412G>T	CCDS11925.1	.	.	.	.	.	.	.	.	.	.	G	11.15	1.554887	0.27739	.	.	ENSG00000141469	ENST00000321925;ENST00000415427;ENST00000502059;ENST00000402943;ENST00000535474;ENST00000436407	T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69	5.46	0.533	0.17121	.	0.397540	0.26979	N	0.021524	T	0.54382	0.1855	M	0.77103	2.36	0.09310	N	0.999999	D;B;B	0.56035	0.974;0.048;0.152	P;B;B	0.51135	0.66;0.158;0.152	T	0.51795	-0.8660	10	0.52906	T	0.07	-8.7132	10.3211	0.43767	0.33:0.0:0.67:0.0	.	194;30;138	Q13336-2;B3KXJ3;Q13336	.;.;UT1_HUMAN	Y	138;194;30;33;6;194	ENSP00000318546:D138Y;ENSP00000412309:D194Y;ENSP00000442180:D30Y;ENSP00000385320:D33Y;ENSP00000441998:D6Y;ENSP00000390637:D194Y	ENSP00000318546:D138Y	D	+	1	0	SLC14A1	41568307	0.177000	0.23109	0.342000	0.25602	0.617000	0.37484	1.000000	0.29770	0.273000	0.22049	0.591000	0.81541	GAC		PASS	0.448	SLC14A1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255860.2	NM_015865		55	132	55	132	---	---	---	---
CTIF	9811	broad.mit.edu	37	18	46284498	46284498	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr18:46284498G>A	ENST00000256413.3	+	8	1088	c.793G>A	c.(793-795)Gca>Aca	p.A265T	CTIF_ENST00000382998.4_Missense_Mutation_p.A265T	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	265	Interaction with NCBP1/CBP80.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)	p.A265T(1)|p.A217T(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						CAAGGGGGAGGCAGGCGCACA	0.647																																						uc002ldc.2																			2	Substitution - Missense(2)		lung(2)		0						c.(793-795)GCA>ACA		hypothetical protein LOC9811 isoform 1							93.0	88.0	89.0					18																	46284498		2203	4298	6501	SO:0001583	missense	9811				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding	g.chr18:46284498G>A	AB007887	CCDS11935.1, CCDS45864.1	18q21.1	2011-01-20	2011-01-20	2011-01-20	ENSG00000134030	ENSG00000134030			23925	protein-coding gene	gene with protein product		613178	"""KIAA0427"""	KIAA0427		9455477, 19648179	Standard	NM_014772		Approved		uc002ldd.3	O43310	OTTHUMG00000132656	ENST00000256413.3:c.793G>A	18.37:g.46284498G>A	ENSP00000256413:p.Ala265Thr					KIAA0427_uc002ldd.2_Missense_Mutation_p.A265T|KIAA0427_uc002lde.3_5'Flank	p.A265T	NM_014772	NP_055587	O43310	CTIF_HUMAN			8	1078	+			265			Interaction with NCBP1/CBP80.		B3KTR8|Q8IVD5	Missense_Mutation	SNP	ENST00000256413.3	37	c.793G>A	CCDS11935.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.497127	0.44352	.	.	ENSG00000134030	ENST00000256413;ENST00000382998;ENST00000420275	T;T	0.46063	0.88;0.88	4.67	2.8	0.32819	.	0.332016	0.28284	N	0.015905	T	0.26702	0.0653	L	0.29908	0.895	0.31400	N	0.676788	P;P	0.39022	0.655;0.524	B;B	0.35039	0.194;0.095	T	0.27640	-1.0068	10	0.62326	D	0.03	-15.3186	7.413	0.27027	0.0:0.1859:0.6214:0.1927	.	265;265	O43310-2;O43310	.;CTIF_HUMAN	T	265;265;217	ENSP00000256413:A265T;ENSP00000372459:A265T	ENSP00000256413:A265T	A	+	1	0	CTIF	44538496	1.000000	0.71417	0.961000	0.40146	0.995000	0.86356	1.083000	0.30815	0.530000	0.28619	0.561000	0.74099	GCA		PASS	0.647	CTIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255907.1	NM_014772		20	56	20	56	---	---	---	---
ALPK2	115701	broad.mit.edu	37	18	56246255	56246255	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr18:56246255G>A	ENST00000361673.3	-	4	1966	c.1753C>T	c.(1753-1755)Cac>Tac	p.H585Y	ALPK2_ENST00000587399.1_5'UTR	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	585						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.H585Y(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GCTGTGGTGTGAGAAGTCTCT	0.488											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002lhj.3																			1	Substitution - Missense(1)		lung(1)	ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						c.(1753-1755)CAC>TAC		heart alpha-kinase							114.0	99.0	104.0					18																	56246255		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56246255G>A	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.1753C>T	18.37:g.56246255G>A	ENSP00000354991:p.His585Tyr		OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1014		p.H585Y	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN			4	1967	-			585					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.1753C>T	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	G	11.35	1.613607	0.28712	.	.	ENSG00000198796	ENST00000361673	T	0.55052	0.54	5.52	2.8	0.32819	.	2.357560	0.02057	N	0.050461	T	0.50309	0.1608	L	0.46157	1.445	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.38520	-0.9657	10	0.72032	D	0.01	0.0	8.2962	0.31986	0.3125:0.0:0.6875:0.0	.	585	Q86TB3	ALPK2_HUMAN	Y	585	ENSP00000354991:H585Y	ENSP00000354991:H585Y	H	-	1	0	ALPK2	54397235	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	1.255000	0.32909	0.312000	0.23038	0.655000	0.94253	CAC		PASS	0.488	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		55	84	55	84	---	---	---	---
CELF5	60680	broad.mit.edu	37	19	3278102	3278102	+	Silent	SNP	C	C	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr19:3278102C>T	ENST00000292672.2	+	5	634	c.597C>T	c.(595-597)acC>acT	p.T199T	CELF5_ENST00000541430.2_Silent_p.T199T	NM_021938.3	NP_068757.2	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	199	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.T199T(1)		kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						GGAGCCAGACCATGCCGGTGA	0.617																																						uc002lxm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(595-597)ACC>ACT		bruno-like 5, RNA binding protein							37.0	30.0	32.0					19																	3278102		2203	4300	6503	SO:0001819	synonymous_variant	60680				mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr19:3278102C>T	AF248649	CCDS12106.1, CCDS54197.1	19p13	2013-02-12	2010-02-19	2010-02-19		ENSG00000161082		"""RNA binding motif (RRM) containing"""	14058	protein-coding gene	gene with protein product		612680	"""Bruno (Drosophila) -like 5, RNA binding protein"", ""bruno-like 5, RNA binding protein (Drosophila)"""	BRUNOL5		10893231	Standard	NM_001172673		Approved		uc002lxm.3	Q8N6W0		ENST00000292672.2:c.597C>T	19.37:g.3278102C>T						CELF5_uc002lxl.1_Silent_p.T199T|CELF5_uc010dtj.1_Silent_p.T199T|CELF5_uc010xhg.1_Silent_p.T85T|CELF5_uc002lxn.2_RNA	p.T199T	NM_021938	NP_068757	Q8N6W0	CELF5_HUMAN			5	634	+			199			RRM 2.		D6W614|O75253|Q59GP2|Q86VW6|Q9BZC0|Q9NR86	Silent	SNP	ENST00000292672.2	37	c.597C>T	CCDS12106.1																																																																																				PASS	0.617	CELF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452574.1	NM_021938		9	21	9	21	---	---	---	---
FSD1	79187	broad.mit.edu	37	19	4323157	4323157	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr19:4323157C>A	ENST00000221856.6	+	11	1361	c.1214C>A	c.(1213-1215)gCc>gAc	p.A405D	STAP2_ENST00000597593.1_5'Flank|FSD1_ENST00000597590.1_Intron	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	405	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.A405D(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCTTCACGGCCAAGCACGCC	0.667																																						uc002lzy.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1213-1215)GCC>GAC		fibronectin type III and SPRY domain containing							61.0	59.0	59.0					19																	4323157		2203	4300	6503	SO:0001583	missense	79187				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus		g.chr19:4323157C>A	AF316829	CCDS12127.1	19p13.3	2013-02-11	2005-03-01			ENSG00000105255		"""Fibronectin type III domain containing"""	13745	protein-coding gene	gene with protein product		609828	"""fibronectin type 3 and SPRY domain containing 1"""			11267680	Standard	NM_024333		Approved	MGC3213, MIR1	uc002lzy.2	Q9BTV5		ENST00000221856.6:c.1214C>A	19.37:g.4323157C>A	ENSP00000221856:p.Ala405Asp					FSD1_uc002lzz.2_Intron|FSD1_uc002maa.2_Missense_Mutation_p.A218D	p.A405D	NM_024333	NP_077309	Q9BTV5	FSD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)	11	1367	+			405			B30.2/SPRY.		B2RDT0|Q9BXN0|Q9HAG4	Missense_Mutation	SNP	ENST00000221856.6	37	c.1214C>A	CCDS12127.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.737628	0.89573	.	.	ENSG00000105255	ENST00000221856	T	0.64260	-0.09	4.38	4.38	0.52667	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.064498	0.64402	D	0.000010	D	0.82747	0.5104	H	0.94582	3.555	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.84479	0.0604	10	0.23302	T	0.38	.	14.4625	0.67459	0.0:1.0:0.0:0.0	.	405	Q9BTV5	FSD1_HUMAN	D	405	ENSP00000221856:A405D	ENSP00000221856:A405D	A	+	2	0	FSD1	4274157	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	5.971000	0.70440	2.012000	0.59069	0.485000	0.47835	GCC		PASS	0.667	FSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458091.1	NM_024333		27	49	27	49	---	---	---	---
ACTL9	284382	broad.mit.edu	37	19	8808441	8808441	+	Missense_Mutation	SNP	T	T	C			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr19:8808441T>C	ENST00000324436.3	-	1	731	c.611A>G	c.(610-612)tAc>tGc	p.Y204C		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	204						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.Y204C(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						GGGCACTGTGTAGGTGACCCC	0.667																																						uc002mkl.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|pancreas(1)	3						c.(610-612)TAC>TGC		actin-like 9							49.0	46.0	47.0					19																	8808441		2203	4300	6503	SO:0001583	missense	284382					cytoplasm|cytoskeleton		g.chr19:8808441T>C		CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.611A>G	19.37:g.8808441T>C	ENSP00000316674:p.Tyr204Cys						p.Y204C	NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN			1	732	-			204					A8K893|Q6X960	Missense_Mutation	SNP	ENST00000324436.3	37	c.611A>G	CCDS12207.1	.	.	.	.	.	.	.	.	.	.	T	12.87	2.067318	0.36470	.	.	ENSG00000181786	ENST00000324436	T	0.08102	3.13	4.34	1.04	0.20106	.	0.547765	0.15184	N	0.275977	T	0.06645	0.0170	L	0.39085	1.19	0.40497	D	0.980609	B	0.06786	0.001	B	0.10450	0.005	T	0.21552	-1.0242	10	0.87932	D	0	.	4.7108	0.12872	0.0:0.2637:0.157:0.5792	.	204	Q8TC94	ACTL9_HUMAN	C	204	ENSP00000316674:Y204C	ENSP00000316674:Y204C	Y	-	2	0	ACTL9	8669441	1.000000	0.71417	0.989000	0.46669	0.920000	0.55202	2.388000	0.44398	0.014000	0.14944	0.379000	0.24179	TAC		PASS	0.667	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	NM_178525		34	53	34	53	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9064008	9064008	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr19:9064008G>A	ENST00000397910.4	-	3	23641	c.23438C>T	c.(23437-23439)cCt>cTt	p.P7813L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7815	Ser-rich.|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.P7813L(2)|p.P3446L(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAGGAAGGCAGGAGTTGATGT	0.537																																						uc002mkp.2																			3	Substitution - Missense(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(23437-23439)CCT>CTT		mucin 16							192.0	184.0	187.0					19																	9064008		2098	4233	6331	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9064008G>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.23438C>T	19.37:g.9064008G>A	ENSP00000381008:p.Pro7813Leu						p.P7813L	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	23642	-			7815			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.23438C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.689	-0.064007	0.07273	.	.	ENSG00000181143	ENST00000397910	T	0.31769	1.48	1.79	0.643	0.17770	.	.	.	.	.	T	0.17831	0.0428	L	0.29908	0.895	.	.	.	B	0.30889	0.299	B	0.19391	0.025	T	0.17107	-1.0380	8	0.87932	D	0	.	5.1703	0.15107	0.0:0.0:0.6555:0.3445	.	7813	B5ME49	.	L	7813	ENSP00000381008:P7813L	ENSP00000381008:P7813L	P	-	2	0	MUC16	8925008	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.121000	0.15667	0.271000	0.22005	0.305000	0.20034	CCT		PASS	0.537	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		49	136	49	136	---	---	---	---
C3P1	388503	broad.mit.edu	37	19	10158116	10158116	+	RNA	SNP	C	C	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr19:10158116C>T	ENST00000495140.1	+	0	1324							Q6ZMU1	C3P1_HUMAN	complement component 3 precursor pseudogene							extracellular space (GO:0005615)	endopeptidase inhibitor activity (GO:0004866)	p.F93F(1)		endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						TGTACAATTTCAGGGATCGCC	0.443																																						uc010dwx.1																			1	Substitution - coding silent(1)		lung(1)		0								Synthetic construct DNA, clone: pF1KB7402, Homo sapiens LOC388503 gene, without stop codon, in Flexi system.							112.0	110.0	111.0					19																	10158116		1971	4161	6132			388503							g.chr19:10158116C>T	AK131489		19p13.2	2009-04-08			ENSG00000167798	ENSG00000167798			34414	pseudogene	pseudogene							Standard	NR_027300		Approved	CPLP	uc010dwx.2	Q6ZMU1	OTTHUMG00000158555		19.37:g.10158116C>T								NR_027300						11		+									RNA	SNP	ENST00000495140.1	37	c.1559C>T																																																																																					PASS	0.443	C3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000351284.1	NR_027300		39	122	39	122	---	---	---	---
ATG4D	84971	broad.mit.edu	37	19	10662585	10662585	+	Missense_Mutation	SNP	T	T	C			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr19:10662585T>C	ENST00000309469.4	+	7	1152	c.979T>C	c.(979-981)Tgc>Cgc	p.C327R	ATG4D_ENST00000540862.1_5'UTR|MIR1238_ENST00000408483.1_RNA|RNU7-140P_ENST00000459546.1_RNA	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	327					apoptotic process (GO:0006915)|autophagy (GO:0006914)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)	p.C327R(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			ACTCCTGCGTTGCGAGCTGTG	0.612																																						uc002mov.2																			1	Substitution - Missense(1)		lung(1)		0						c.(979-981)TGC>CGC		APG4 autophagy 4 homolog D							73.0	67.0	69.0					19																	10662585		2203	4300	6503	SO:0001583	missense	84971				autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity	g.chr19:10662585T>C	AJ312332	CCDS12241.1	19p13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000130734	ENSG00000130734			20789	protein-coding gene	gene with protein product		611340	"""AUT-like 4, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog D (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog D (S. cerevisiae)"""	AUTL4, APG4D		12446702	Standard	NM_032885		Approved	APG4-D	uc002mov.3	Q86TL0	OTTHUMG00000180582	ENST00000309469.4:c.979T>C	19.37:g.10662585T>C	ENSP00000311318:p.Cys327Arg					ATG4D_uc010xlh.1_Missense_Mutation_p.C264R|ATG4D_uc010dxh.2_RNA|ATG4D_uc010dxi.2_RNA|ATG4D_uc010dxj.2_5'UTR|MIR1238_hsa-mir-1238|MI0006328_5'Flank	p.C327R	NM_032885	NP_116274	Q86TL0	ATG4D_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		7	1099	+			327					Q969K0	Missense_Mutation	SNP	ENST00000309469.4	37	c.979T>C	CCDS12241.1	.	.	.	.	.	.	.	.	.	.	T	6.968	0.548599	0.13312	.	.	ENSG00000130734	ENST00000309469	T	0.40225	1.04	5.17	1.69	0.24217	.	0.414278	0.23589	N	0.046577	T	0.22513	0.0543	N	0.19112	0.55	0.21697	N	0.999586	B;B	0.19583	0.037;0.005	B;B	0.19391	0.025;0.009	T	0.12993	-1.0526	10	0.62326	D	0.03	-10.1254	2.6328	0.04949	0.3093:0.2463:0.0:0.4443	.	264;327	B4DGM8;Q86TL0	.;ATG4D_HUMAN	R	327	ENSP00000311318:C327R	ENSP00000311318:C327R	C	+	1	0	ATG4D	10523585	0.523000	0.26274	0.007000	0.13788	0.163000	0.22366	1.481000	0.35476	0.889000	0.36185	0.533000	0.62120	TGC		PASS	0.612	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452022.1	NM_032885		14	24	14	24	---	---	---	---
C19orf44	84167	broad.mit.edu	37	19	16632349	16632349	+	IGR	SNP	G	G	C			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr19:16632349G>C	ENST00000221671.3	+	0	3427				CHERP_ENST00000198939.6_Missense_Mutation_p.H710Q|CHERP_ENST00000546361.2_Missense_Mutation_p.H699Q|CHERP_ENST00000544299.1_5'UTR|CTD-3222D19.2_ENST00000409035.1_Intron	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44									p.H699Q(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						TGGGCCTGTCGTGGGACGGGG	0.672																																						uc002nei.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2095-2097)CAC>CAG		calcium homeostasis endoplasmic reticulum							15.0	18.0	17.0					19																	16632349		1886	4103	5989	SO:0001628	intergenic_variant	10523				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	g.chr19:16632349G>C	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5			19.37:g.16632349G>C						MED26_uc002nee.2_Intron|CHERP_uc010xpg.1_Missense_Mutation_p.H238Q	p.H699Q	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN			12	2171	-			699					Q8N6Y7	Missense_Mutation	SNP	ENST00000221671.3	37	c.2097C>G	CCDS12345.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.130993	0.56828	.	.	ENSG00000085872	ENST00000546361;ENST00000198939	T;T	0.27720	1.65;1.65	5.11	-6.95	0.01628	.	.	.	.	.	T	0.45836	0.1362	L	0.58810	1.83	0.46981	D	0.999279	D	0.71674	0.998	D	0.77004	0.989	T	0.63005	-0.6733	9	0.66056	D	0.02	-25.8357	15.2285	0.73369	0.8425:0.0:0.1575:0.0	.	699	Q8IWX8	CHERP_HUMAN	Q	699;710	ENSP00000439856:H699Q;ENSP00000198939:H710Q	ENSP00000198939:H710Q	H	-	3	2	CHERP	16493349	0.006000	0.16342	0.902000	0.35471	0.497000	0.33675	-0.837000	0.04377	-1.019000	0.03358	-0.448000	0.05591	CAC		PASS	0.672	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207		8	21	8	21	---	---	---	---
ANO8	57719	broad.mit.edu	37	19	17438618	17438618	+	Silent	SNP	G	G	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr19:17438618G>T	ENST00000159087.4	-	14	2456	c.2298C>A	c.(2296-2298)ccC>ccA	p.P766P		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	766					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.P766P(1)		autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						GCGCCGCCAGGGGGAAGGCGG	0.652																																						uc002ngf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(2296-2298)CCC>CCA		anoctamin 8							114.0	104.0	107.0					19																	17438618		2203	4300	6503	SO:0001819	synonymous_variant	57719					chloride channel complex	chloride channel activity	g.chr19:17438618G>T	AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	29329	protein-coding gene	gene with protein product		610216	"""KIAA1623"", ""transmembrane protein 16H"""	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.2298C>A	19.37:g.17438618G>T						ANO8_uc010eap.2_RNA	p.P766P	NM_020959	NP_066010	Q9HCE9	ANO8_HUMAN			14	2457	-			766			Helical; (Potential).		A6NIJ0	Silent	SNP	ENST00000159087.4	37	c.2298C>A	CCDS32949.1																																																																																				PASS	0.652	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462943.1	XM_050644		50	112	50	112	---	---	---	---
ZNF714	148206	broad.mit.edu	37	19	21300974	21300975	+	Missense_Mutation	DNP	CA	CA	TG			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr19:21300974_21300975CA>TG	ENST00000596143.1	+	5	1829_1830	c.1504_1505CA>TG	c.(1504-1506)CAg>TGg	p.Q502W	ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000596053.1_Intron	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	502					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.Q607W(1)|p.Q607R(1)|p.Q502*(1)|p.Q502W(1)|p.Q607*(1)|p.Q502R(1)		endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						TAGGAAAATTCAgcagggcatg	0.431																																						uc002npo.3																			6	Substitution - Missense(4)|Substitution - Nonsense(2)		lung(6)		0						c.(1507-1509)CAG>TAG|c.(1507-1509)CAG>CGG		zinc finger protein 714																																				SO:0001583	missense	148206				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21300974C>T|g.chr19:21300975A>G	AK056006	CCDS54239.1	19p12	2013-01-08				ENSG00000160352		"""Zinc fingers, C2H2-type"""	27124	protein-coding gene	gene with protein product						12477932	Standard	NM_182515		Approved		uc002npo.4	Q96N38		Exception_encountered	19.37:g.21300974_21300975delinsTG	ENSP00000472368:p.Gln502Trp					ZNF714_uc002npl.2_Nonsense_Mutation_p.Q348*|ZNF714_uc010ecp.1_Nonsense_Mutation_p.Q454*|ZNF714_uc002npn.2_RNA|ZNF714_uc002npl.2_Missense_Mutation_p.Q348R|ZNF714_uc010ecp.1_Missense_Mutation_p.Q454R|ZNF714_uc002npn.2_RNA	p.Q503*|p.Q503R	NM_182515	NP_872321	Q96N38	ZN714_HUMAN			6	1867|1868	+			503			C2H2-type 14; degenerate.		Q49AI1|Q86W65|Q8ND40	Nonsense_Mutation|Missense_Mutation	SNP	ENST00000596143.1	37	c.1507C>T|c.1508A>G	CCDS54239.1																																																																																				PASS	0.431	ZNF714-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463930.1	NM_182515		9	15	9	15	---	---	---	---
ZNF431	170959	broad.mit.edu	37	19	21366002	21366002	+	Missense_Mutation	SNP	G	G	C			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr19:21366002G>C	ENST00000311048.7	+	5	1040	c.896G>C	c.(895-897)cGg>cCg	p.R299P	ZNF431_ENST00000600692.1_3'UTR|ZNF431_ENST00000594425.1_Intron	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	299					cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)	p.R299P(2)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						GCCTTCAACCGGTCCTCACAC	0.408																																						uc002npp.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)	2						c.(895-897)CGG>CCG		zinc finger protein 431							59.0	62.0	61.0					19																	21366002		2201	4299	6500	SO:0001583	missense	170959				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21366002G>C	AB075849	CCDS32979.1	19p12	2013-01-08				ENSG00000196705		"""Zinc fingers, C2H2-type"", ""-"""	20809	protein-coding gene	gene with protein product						11853319	Standard	NM_133473		Approved	KIAA1969	uc002npp.2	Q8TF32		ENST00000311048.7:c.896G>C	19.37:g.21366002G>C	ENSP00000308578:p.Arg299Pro					ZNF431_uc010ecq.2_Missense_Mutation_p.R208P|ZNF431_uc010ecr.2_Missense_Mutation_p.R300P	p.R299P	NM_133473	NP_597730	Q8TF32	ZN431_HUMAN			5	1043	+			299			C2H2-type 5.		A8KAK7|Q8IWC4	Missense_Mutation	SNP	ENST00000311048.7	37	c.896G>C	CCDS32979.1	.	.	.	.	.	.	.	.	.	.	.	2.885	-0.230906	0.05983	.	.	ENSG00000196705	ENST00000311048	T	0.07444	3.19	1.0	1.0	0.19881	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12646	0.0307	M	0.80422	2.495	0.09310	N	1	B	0.26147	0.143	B	0.24974	0.057	T	0.15549	-1.0433	9	0.46703	T	0.11	.	8.8725	0.35325	0.0:0.0:1.0:0.0	.	299	Q8TF32	ZN431_HUMAN	P	299	ENSP00000308578:R299P	ENSP00000308578:R299P	R	+	2	0	ZNF431	21157842	0.000000	0.05858	0.540000	0.28089	0.518000	0.34316	-1.603000	0.02077	0.446000	0.26666	0.449000	0.29647	CGG		PASS	0.408	ZNF431-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463943.1	XM_086098		18	50	18	50	---	---	---	---
ZNF429	353088	broad.mit.edu	37	19	21720399	21720399	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr19:21720399G>A	ENST00000358491.4	+	4	1752	c.1544G>A	c.(1543-1545)gGc>gAc	p.G515D	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	515					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G515D(1)		endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						GAAGAATGTGGCAAAGCTTTT	0.368																																						uc002nqd.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1543-1545)GGC>GAC		zinc finger protein 429							37.0	41.0	40.0					19																	21720399		2123	4262	6385	SO:0001583	missense	353088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21720399G>A	AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"""Zinc fingers, C2H2-type"", ""-"""	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.1544G>A	19.37:g.21720399G>A	ENSP00000351280:p.Gly515Asp					ZNF429_uc010ecu.1_Intron	p.G515D	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN			4	1681	+			515			C2H2-type 14.		A6NLV7|Q9BZE6	Missense_Mutation	SNP	ENST00000358491.4	37	c.1544G>A	CCDS42537.1	.	.	.	.	.	.	.	.	.	.	.	11.97	1.797388	0.31777	.	.	ENSG00000197013	ENST00000358491	T	0.58358	0.34	0.81	0.81	0.18732	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.58864	0.2152	L	0.35854	1.095	0.28234	N	0.925995	D	0.89917	1.0	D	0.97110	1.0	T	0.51419	-0.8708	9	0.66056	D	0.02	.	8.393	0.32540	0.0:0.0:1.0:0.0	.	515	Q86V71	ZN429_HUMAN	D	515	ENSP00000351280:G515D	ENSP00000351280:G515D	G	+	2	0	ZNF429	21512239	0.831000	0.29352	0.775000	0.31657	0.776000	0.43924	0.889000	0.28282	0.181000	0.19994	0.184000	0.17185	GGC		PASS	0.368	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1	NM_001001415		12	32	12	32	---	---	---	---
PPFIA3	8541	broad.mit.edu	37	19	49631295	49631295	+	Silent	SNP	A	A	G			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr19:49631295A>G	ENST00000334186.4	+	2	514	c.165A>G	c.(163-165)acA>acG	p.T55T	PPFIA3_ENST00000602351.1_Silent_p.T55T	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	55					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)		p.T55T(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GGTTGGCTACAGCGCAGCTGC	0.726																																						uc002pmr.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(163-165)ACA>ACG		PTPRF interacting protein alpha 3							9.0	11.0	11.0					19																	49631295		1789	3755	5544	SO:0001819	synonymous_variant	8541					cell surface|cytoplasm	protein binding	g.chr19:49631295A>G	AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.165A>G	19.37:g.49631295A>G						PPFIA3_uc010yai.1_RNA|PPFIA3_uc010emt.2_5'Flank|PPFIA3_uc010yaj.1_5'Flank|PPFIA3_uc002pms.2_5'Flank	p.T55T	NM_003660	NP_003651	O75145	LIPA3_HUMAN		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)	2	497	+		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	55			Potential.		A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Silent	SNP	ENST00000334186.4	37	c.165A>G	CCDS12758.1																																																																																				PASS	0.726	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	NM_003660		12	11	12	11	---	---	---	---
NLRP4	147945	broad.mit.edu	37	19	56369695	56369695	+	Missense_Mutation	SNP	C	C	G			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr19:56369695C>G	ENST00000301295.6	+	3	1358	c.936C>G	c.(934-936)tgC>tgG	p.C312W	NLRP4_ENST00000346986.5_Missense_Mutation_p.C312W|NLRP4_ENST00000587891.1_Missense_Mutation_p.C237W	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	312	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.C312W(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TGTATTTCTGCTGTTTCTTCA	0.493																																						uc002qmd.3																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15						c.(934-936)TGC>TGG		NLR family, pyrin domain containing 4							66.0	71.0	70.0					19																	56369695		2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56369695C>G	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.936C>G	19.37:g.56369695C>G	ENSP00000301295:p.Cys312Trp					NLRP4_uc002qmf.2_Missense_Mutation_p.C237W|NLRP4_uc010etf.2_Missense_Mutation_p.C143W	p.C312W	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	3	1358	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	312			NACHT.		Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.936C>G	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.662122	0.29515	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.78246	-1.16;-1.16	4.1	0.355	0.16069	.	.	.	.	.	T	0.76772	0.4034	L	0.40543	1.245	0.09310	N	1	D;D;D	0.64830	0.994;0.993;0.994	D;P;D	0.65573	0.936;0.878;0.925	T	0.62581	-0.6824	9	0.38643	T	0.18	.	2.689	0.05115	0.1653:0.4429:0.2862:0.1056	.	312;237;312	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	W	312	ENSP00000301295:C312W;ENSP00000344787:C312W	ENSP00000301295:C312W	C	+	3	2	NLRP4	61061507	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.297000	0.08276	0.456000	0.26937	0.655000	0.94253	TGC		PASS	0.493	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		4	80	4	80	---	---	---	---
SPATA2	9825	broad.mit.edu	37	20	48524716	48524716	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr20:48524716C>A	ENST00000422556.1	-	2	661	c.312G>T	c.(310-312)tgG>tgT	p.W104C	SPATA2_ENST00000289431.5_Missense_Mutation_p.W104C|SPATA2_ENST00000543716.1_Intron	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	104					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.W104C(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			ATTCCTTCTTCCACGGGTAGA	0.602																																						uc010gie.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(310-312)TGG>TGT		spermatogenesis associated 2							111.0	107.0	108.0					20																	48524716		2203	4300	6503	SO:0001583	missense	9825				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus		g.chr20:48524716C>A	AB018300	CCDS13422.1	20q13.13	2014-06-13			ENSG00000158480	ENSG00000158480			14681	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 145"""	607662					Standard	NM_001135773		Approved	KIAA0757, PD1, tamo, PPP1R145	uc002xuw.3	Q9UM82	OTTHUMG00000032704	ENST00000422556.1:c.312G>T	20.37:g.48524716C>A	ENSP00000416799:p.Trp104Cys					SPATA2_uc002xuw.2_Missense_Mutation_p.W104C|SPATA2_uc010zyn.1_Intron	p.W104C	NM_001135773	NP_001129245	Q9UM82	SPAT2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;4.03e-06)		2	662	-	Hepatocellular(150;0.133)		104					E1P626|O94857	Missense_Mutation	SNP	ENST00000422556.1	37	c.312G>T	CCDS13422.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.346344	0.61073	.	.	ENSG00000158480	ENST00000289431;ENST00000422556	T;T	0.64085	-0.08;-0.08	4.72	3.75	0.43078	.	0.066673	0.64402	N	0.000004	T	0.65729	0.2719	M	0.78456	2.415	0.80722	D	1	B	0.22003	0.063	B	0.27887	0.084	T	0.69172	-0.5215	10	0.87932	D	0	-50.2365	15.0068	0.71519	0.0:0.8568:0.1432:0.0	.	104	Q9UM82	SPAT2_HUMAN	C	104	ENSP00000289431:W104C;ENSP00000416799:W104C	ENSP00000289431:W104C	W	-	3	0	SPATA2	47958123	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	7.122000	0.77169	1.299000	0.44798	0.655000	0.94253	TGG		PASS	0.602	SPATA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079658.1	NM_006038		37	138	37	138	---	---	---	---
TMEM189-UBE2V1	387522	broad.mit.edu	37	20	48746194	48746194	+	Missense_Mutation	SNP	C	C	G			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr20:48746194C>G	ENST00000341698.2	-	4	366	c.367G>C	c.(367-369)Gac>Cac	p.D123H	TMEM189_ENST00000557021.1_Missense_Mutation_p.D123H|TMEM189_ENST00000371656.2_Missense_Mutation_p.D48H|TMEM189_ENST00000371650.5_Missense_Mutation_p.D120H|TMEM189_ENST00000371652.4_Missense_Mutation_p.D123H	NM_001257399.1	NP_001244328.1			TMEM189-UBE2V1 readthrough									p.D123H(2)		breast(1)|endometrium(4)|large_intestine(6)|lung(6)	17			BRCA - Breast invasive adenocarcinoma(9;8.29e-07)			GCTGTCGGGTCAATGTGGTGC	0.602																																						uc002xvf.2																			2	Substitution - Missense(2)		lung(2)		0						c.(367-369)GAC>CAC		TMEM189-UBE2V1 readthrough transcript							213.0	176.0	189.0					20																	48746194		2203	4300	6503	SO:0001583	missense	387522				cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein K63-linked ubiquitination|regulation of DNA repair|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus|UBC13-UEV1A complex|ubiquitin ligase complex	acid-amino acid ligase activity|protein binding	g.chr20:48746194C>G	U39361	CCDS13424.1	20q13.13	2011-05-31			ENSG00000124208	ENSG00000124208			33521	other	readthrough						11076860	Standard	NM_199203		Approved	Kua-UEV, CROC-1B	uc002xvf.3		OTTHUMG00000033085	ENST00000341698.2:c.367G>C	20.37:g.48746194C>G	ENSP00000344166:p.Asp123His					TMEM189_uc010zyq.1_RNA|TMEM189_uc002xvg.2_Missense_Mutation_p.D123H|TMEM189_uc010gif.2_Missense_Mutation_p.D120H|TMEM189_uc010zyp.1_Missense_Mutation_p.D48H	p.D123H	NM_199203	NP_954673	Q13404	UB2V1_HUMAN	BRCA - Breast invasive adenocarcinoma(9;8.29e-07)		4	528	-			Error:Variant_position_missing_in_Q13404_after_alignment						Missense_Mutation	SNP	ENST00000341698.2	37	c.367G>C	CCDS13424.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.893901	0.91889	.	.	ENSG00000124208;ENSG00000240849;ENSG00000240849;ENSG00000240849;ENSG00000240849	ENST00000341698;ENST00000557021;ENST00000371650;ENST00000371656;ENST00000371652	T;T;T;T	0.55413	0.52;0.52;0.77;0.77	5.26	5.26	0.73747	Kua-ubiquitin conjugating enzyme hybrid, localisation (1);	.	.	.	.	T	0.72779	0.3503	M	0.81239	2.535	0.41441	D	0.987929	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.998	T	0.69503	-0.5128	9	0.13470	T	0.59	-8.1826	18.8531	0.92240	0.0:1.0:0.0:0.0	.	48;120;123;123	Q5TGE2;Q5TGE1;A5PLL7;G3V2F7	.;.;TM189_HUMAN;.	H	123;123;120;48;123	ENSP00000344166:D123H;ENSP00000450635:D123H;ENSP00000360713:D120H;ENSP00000360715:D123H	ENSP00000360713:D120H	D	-	1	0	TMEM189-UBE2V1;TMEM189	48179601	1.000000	0.71417	0.967000	0.41034	0.957000	0.61999	7.410000	0.80065	2.450000	0.82876	0.491000	0.48974	GAC		PASS	0.602	TMEM189-UBE2V1-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000080532.5			6	119	6	119	---	---	---	---
CDH26	60437	broad.mit.edu	37	20	58559798	58559798	+	Missense_Mutation	SNP	A	A	C			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr20:58559798A>C	ENST00000244047.5	+	6	957	c.646A>C	c.(646-648)Agt>Cgt	p.S216R	CDH26_ENST00000348616.4_Missense_Mutation_p.S216R			Q8IXH8	CAD26_HUMAN	cadherin 26	216	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S216R(2)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			ACTGAAAGAAAGTGGTTTCCG	0.358																																						uc002ybe.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(1)	4						c.(646-648)AGT>CGT		cadherin-like 26 isoform a							133.0	137.0	136.0					20																	58559798		2203	4300	6503	SO:0001583	missense	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58559798A>C	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.646A>C	20.37:g.58559798A>C	ENSP00000244047:p.Ser216Arg					CDH26_uc010zzy.1_RNA	p.S216R	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		6	946	+	all_lung(29;0.00963)		216			Cadherin 2.|Extracellular (Potential).		A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	ENST00000244047.5	37	c.646A>C		.	.	.	.	.	.	.	.	.	.	A	3.002	-0.205752	0.06180	.	.	ENSG00000124215	ENST00000244047;ENST00000348616	T;T	0.49720	0.77;0.77	4.43	3.31	0.37934	.	0.303213	0.34411	N	0.003999	T	0.37598	0.1009	L	0.33189	0.99	0.09310	N	1	B	0.26876	0.162	B	0.33339	0.162	T	0.33266	-0.9875	10	0.54805	T	0.06	.	8.7296	0.34491	0.6242:0.3758:0.0:0.0	.	216	Q8IXH8-4	.	R	216	ENSP00000244047:S216R;ENSP00000339390:S216R	ENSP00000244047:S216R	S	+	1	0	CDH26	57993193	0.007000	0.16637	0.002000	0.10522	0.080000	0.17528	0.979000	0.29500	0.544000	0.28883	0.528000	0.53228	AGT		PASS	0.358	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		82	85	82	85	---	---	---	---
RBM11	54033	broad.mit.edu	37	21	15591904	15591904	+	Silent	SNP	G	G	C			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr21:15591904G>C	ENST00000400577.3	+	2	126	c.117G>C	c.(115-117)gtG>gtC	p.V39V	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	39	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(U) RNA binding (GO:0008266)|protein homodimerization activity (GO:0042803)	p.V39V(1)		endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		TAACCAAAGTGACTATATGCA	0.338																																						uc002yjo.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(115-117)GTG>GTC		RNA binding motif protein 11							52.0	49.0	50.0					21																	15591904		1567	3581	5148	SO:0001819	synonymous_variant	54033						nucleotide binding|RNA binding	g.chr21:15591904G>C	AF130358	CCDS46635.1	21q11	2013-02-12			ENSG00000185272	ENSG00000185272		"""RNA binding motif (RRM) containing"""	9897	protein-coding gene	gene with protein product						12036298	Standard	NM_144770		Approved		uc002yjo.4	P57052	OTTHUMG00000074263	ENST00000400577.3:c.117G>C	21.37:g.15591904G>C						RBM11_uc002yjn.3_5'UTR|RBM11_uc002yjp.3_Intron	p.V39V	NM_144770	NP_658983	P57052	RBM11_HUMAN		Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)	2	159	+			39			RRM.		Q6YNC2|Q8NBA1|Q8NFF6	Silent	SNP	ENST00000400577.3	37	c.117G>C	CCDS46635.1																																																																																				PASS	0.338	RBM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157818.1	NM_144770		4	13	4	13	---	---	---	---
KRTAP13-3	337960	broad.mit.edu	37	21	31798087	31798087	+	Silent	SNP	C	C	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr21:31798087C>A	ENST00000390690.2	-	1	199	c.144G>T	c.(142-144)ctG>ctT	p.L48L		NM_181622.1	NP_853653.1	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	48	5 X 10 AA approximate repeats.					intermediate filament (GO:0005882)		p.L48L(1)		endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						GAGAGGAACCCAGCTGGCAGG	0.597																																						uc002yob.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)	2						c.(142-144)CTG>CTT		keratin associated protein 13-3							61.0	68.0	66.0					21																	31798087		2203	4300	6503	SO:0001819	synonymous_variant	337960					intermediate filament		g.chr21:31798087C>A	AP001708	CCDS13591.1	21q22.1	2006-03-13			ENSG00000240432	ENSG00000240432		"""Keratin associated proteins"""	18925	protein-coding gene	gene with protein product						12359730	Standard	NM_181622		Approved	KAP13.3	uc002yob.1	Q3SY46	OTTHUMG00000057776	ENST00000390690.2:c.144G>T	21.37:g.31798087C>A							p.L48L	NM_181622	NP_853653	Q3SY46	KR133_HUMAN			1	144	-			48			1.|5 X 10 AA approximate repeats.		Q3LI78	Silent	SNP	ENST00000390690.2	37	c.144G>T	CCDS13591.1																																																																																				PASS	0.597	KRTAP13-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128228.2			30	78	30	78	---	---	---	---
DSCAM	1826	broad.mit.edu	37	21	41414584	41414584	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr21:41414584G>T	ENST00000400454.1	-	32	5877	c.5400C>A	c.(5398-5400)agC>agA	p.S1800R		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1800					cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.S1800R(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGAGACCATGCTGCTTCTTG	0.542																																					Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(5398-5400)AGC>AGA		Down syndrome cell adhesion molecule isoform							124.0	115.0	118.0					21																	41414584		2112	4234	6346	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41414584G>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5400C>A	21.37:g.41414584G>T	ENSP00000383303:p.Ser1800Arg					DSCAM_uc002yyr.1_RNA	p.S1800R	NM_001389	NP_001380	O60469	DSCAM_HUMAN			32	5852	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1800			Cytoplasmic (Potential).		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.5400C>A	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	g	18.54	3.646889	0.67358	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.66099	-0.19;-0.03	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.68787	0.3039	L	0.32530	0.975	0.41709	D	0.989447	D	0.71674	0.998	D	0.75484	0.986	T	0.71748	-0.4499	10	0.72032	D	0.01	.	12.2476	0.54578	0.0776:0.0:0.9224:0.0	.	1800	O60469	DSCAM_HUMAN	R	1800;1552	ENSP00000383303:S1800R;ENSP00000385342:S1552R	ENSP00000383303:S1800R	S	-	3	2	DSCAM	40336454	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.113000	0.57851	2.458000	0.83093	0.655000	0.94253	AGC		PASS	0.542	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		16	52	16	52	---	---	---	---
KRTAP10-9	386676	broad.mit.edu	37	21	46047883	46047883	+	Silent	SNP	C	C	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr21:46047883C>A	ENST00000397911.3	+	1	844	c.795C>A	c.(793-795)gcC>gcA	p.A265A	KRTAP10-9_ENST00000484861.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	265						keratin filament (GO:0045095)		p.A265A(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						GCCGCCAGGCCTCCTGTGTGT	0.697																																						uc002zfp.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(793-795)GCC>GCA		keratin associated protein 10-9							65.0	82.0	76.0					21																	46047883		2200	4290	6490	SO:0001819	synonymous_variant	386676					keratin filament		g.chr21:46047883C>A	AJ566386	CCDS42961.1	21q22.3	2007-10-05			ENSG00000221837	ENSG00000221837		"""Keratin associated proteins"""	22971	protein-coding gene	gene with protein product				KRTAP18-9			Standard	NM_198690		Approved	KAP10.9, KAP18.9	uc002zfp.4	P60411	OTTHUMG00000057637	ENST00000397911.3:c.795C>A	21.37:g.46047883C>A						C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.A265A	NM_198690	NP_941963	P60411	KR109_HUMAN			1	844	+			265					A2RRG1|A6NIR9|Q70LJ1	Silent	SNP	ENST00000397911.3	37	c.795C>A	CCDS42961.1																																																																																				PASS	0.697	KRTAP10-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128040.1			51	106	51	106	---	---	---	---
TSSK2	23617	broad.mit.edu	37	22	19119491	19119491	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr22:19119491G>T	ENST00000399635.2	+	1	1171	c.579G>T	c.(577-579)caG>caT	p.Q193H	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	193	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.Q193H(1)		endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					TCCCCTACCAGCCCAAGGTGT	0.602																																						uc002zow.2																			1	Substitution - Missense(1)		lung(1)	stomach(1)	1						c.(577-579)CAG>CAT		testis-specific serine kinase 2							82.0	85.0	84.0					22																	19119491		2203	4300	6503	SO:0001583	missense	23617				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:19119491G>T	AF362953	CCDS13755.1	22q11.21	2007-01-30	2005-03-10	2005-03-12	ENSG00000206203	ENSG00000206203			11401	protein-coding gene	gene with protein product		610710	"""serine/threonine kinase 22B (spermiogenesis associated)"""	STK22B		10591208	Standard	NM_053006		Approved	SPOGA2, FLJ38613	uc002zow.2	Q96PF2	OTTHUMG00000150118	ENST00000399635.2:c.579G>T	22.37:g.19119491G>T	ENSP00000382544:p.Gln193His					DGCR14_uc002zot.2_3'UTR|DGCR14_uc002zou.2_3'UTR|DGCR14_uc002zov.2_RNA	p.Q193H	NM_053006	NP_443732	Q96PF2	TSSK2_HUMAN			1	1171	+	Colorectal(54;0.0993)		193			Protein kinase.		Q8IY55	Missense_Mutation	SNP	ENST00000399635.2	37	c.579G>T	CCDS13755.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.169004	0.38315	.	.	ENSG00000206203	ENST00000399635	D	0.82619	-1.63	5.34	5.34	0.76211	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	0.47455	D	0.000231	T	0.69151	0.3079	N	0.04655	-0.195	0.37403	D	0.912919	B	0.15930	0.015	B	0.21708	0.036	T	0.69580	-0.5107	10	0.54805	T	0.06	.	15.9684	0.79991	0.0:0.0:1.0:0.0	.	193	Q96PF2	TSSK2_HUMAN	H	193	ENSP00000382544:Q193H	ENSP00000382544:Q193H	Q	+	3	2	TSSK2	17499491	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.826000	0.27407	2.487000	0.83934	0.655000	0.94253	CAG		PASS	0.602	TSSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316431.1			14	150	14	150	---	---	---	---
TXNRD2	10587	broad.mit.edu	37	22	19864720	19864720	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr22:19864720C>A	ENST00000400521.1	-	17	1489	c.1483G>T	c.(1483-1485)Ggt>Tgt	p.G495C	TXNRD2_ENST00000400518.1_Missense_Mutation_p.G465C|TXNRD2_ENST00000535882.1_Missense_Mutation_p.G494C|TXNRD2_ENST00000542719.1_Missense_Mutation_p.G465C|TXNRD2_ENST00000400519.1_Missense_Mutation_p.G494C	NM_006440.3	NP_006431.2	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	495					cell redox homeostasis (GO:0045454)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|response to oxygen radical (GO:0000305)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|thioredoxin-disulfide reductase activity (GO:0004791)	p.G495C(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					GGATGGATACCCACGGTCCGC	0.652																																						uc011ahc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1483-1485)GGT>TGT		thioredoxin reductase 2 precursor							39.0	43.0	42.0					22																	19864720		2080	4223	6303	SO:0001583	missense	10587				cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity	g.chr22:19864720C>A	AF106697	CCDS42981.1, CCDS63402.1	22q11.21	2014-09-17			ENSG00000184470	ENSG00000184470			18155	protein-coding gene	gene with protein product	"""thioredoxin reductase beta"", ""selenoprotein Z"""	606448				9923614, 10215850, 11012661	Standard	NM_006440		Approved	TR, TRXR2, TR3	uc021wlj.1	Q9NNW7	OTTHUMG00000149975	ENST00000400521.1:c.1483G>T	22.37:g.19864720C>A	ENSP00000383365:p.Gly495Cys					TXNRD2_uc002zql.1_Missense_Mutation_p.G249C|TXNRD2_uc002zqm.1_RNA|TXNRD2_uc002zqn.1_RNA|TXNRD2_uc002zqo.1_RNA|TXNRD2_uc002zqp.1_RNA|TXNRD2_uc002zqr.1_Missense_Mutation_p.G494C|TXNRD2_uc002zqj.1_RNA|TXNRD2_uc002zqq.1_Missense_Mutation_p.G145C	p.G495C	NM_006440	NP_006431	Q9NNW7	TRXR2_HUMAN			17	1516	-	Colorectal(54;0.0993)		495					O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8	Missense_Mutation	SNP	ENST00000400521.1	37	c.1483G>T	CCDS42981.1	.	.	.	.	.	.	.	.	.	.	c	18.39	3.614559	0.66672	.	.	ENSG00000184470	ENST00000400518;ENST00000538798;ENST00000400521;ENST00000400525;ENST00000540474;ENST00000400519;ENST00000535882;ENST00000542719	D;D;D;D;D;D	0.92699	-3.09;-3.09;-3.09;-3.09;-3.09;-3.09	4.32	4.32	0.51571	FAD/NAD-linked reductase, dimerisation (1);Pyridine nucleotide-disulphide oxidoreductase, dimerisation (2);	0.000000	0.85682	D	0.000000	D	0.96864	0.8976	M	0.92122	3.275	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97794	1.0240	10	0.87932	D	0	-0.0235	16.1121	0.81271	0.0:1.0:0.0:0.0	.	495;494;472	Q9NNW7;D3YTF9;D3YTF8	TRXR2_HUMAN;.;.	C	465;495;495;472;399;494;494;465	ENSP00000383362:G465C;ENSP00000383365:G495C;ENSP00000383369:G472C;ENSP00000383363:G494C;ENSP00000439314:G494C;ENSP00000439570:G465C	ENSP00000383362:G465C	G	-	1	0	TXNRD2	18244720	1.000000	0.71417	0.993000	0.49108	0.431000	0.31685	6.554000	0.73923	2.429000	0.82318	0.556000	0.70494	GGT		PASS	0.652	TXNRD2-003	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000314903.3	NM_006440		13	39	13	39	---	---	---	---
RFPL1	5988	broad.mit.edu	37	22	29837976	29837976	+	Silent	SNP	C	C	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr22:29837976C>A	ENST00000354373.2	+	2	1028	c.819C>A	c.(817-819)gtC>gtA	p.V273V	RFPL1S_ENST00000461286.3_RNA|RFPL1S_ENST00000539579.1_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	273	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)	p.V273V(2)		endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						TCAGGAGTGTCTCTGCTGAGG	0.468																																						uc003afn.2																			2	Substitution - coding silent(2)		lung(1)|endometrium(1)		0						c.(817-819)GTC>GTA		ret finger protein-like 1							116.0	96.0	103.0					22																	29837976		2203	4300	6503	SO:0001819	synonymous_variant	5988						zinc ion binding	g.chr22:29837976C>A	AJ010228	CCDS13857.2	22q12	2006-04-25			ENSG00000128250	ENSG00000128250		"""RING-type (C3HC4) zinc fingers"""	9977	protein-coding gene	gene with protein product		605968				10508838	Standard	NM_021026		Approved	RNF78	uc003afn.3	O75677	OTTHUMG00000150516	ENST00000354373.2:c.819C>A	22.37:g.29837976C>A						RFPL1S_uc003afm.1_RNA	p.V273V	NM_021026	NP_066306	O75677	RFPL1_HUMAN			2	1028	+			273			B30.2/SPRY.		Q6IC06|Q9UJ97	Silent	SNP	ENST00000354373.2	37	c.819C>A	CCDS13857.2																																																																																				PASS	0.468	RFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318719.1	NM_021026		5	173	5	173	---	---	---	---
CCDC157	550631	broad.mit.edu	37	22	30766590	30766590	+	Silent	SNP	G	G	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr22:30766590G>A	ENST00000405659.1	+	5	1405	c.696G>A	c.(694-696)caG>caA	p.Q232Q	CCDC157_ENST00000338306.3_Silent_p.Q232Q			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	232								p.Q232Q(1)|p.Q181Q(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						GAAGCCTGCAGAAGGTGGGCA	0.622																																						uc011aku.1																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(694-696)CAG>CAA		coiled-coil domain containing 157							83.0	69.0	73.0					22																	30766590		2203	4300	6503	SO:0001819	synonymous_variant	550631							g.chr22:30766590G>A	BC018040	CCDS33632.2	22q12.2	2009-03-05			ENSG00000187860	ENSG00000187860			33854	protein-coding gene	gene with protein product							Standard	NM_001017437		Approved		uc011aku.2	Q569K6	OTTHUMG00000151007	ENST00000405659.1:c.696G>A	22.37:g.30766590G>A						CCDC157_uc011akv.1_Silent_p.Q232Q	p.Q232Q	NM_001017437	NP_001017437	Q569K6	CC157_HUMAN			5	1356	+			232					Q0VD76|Q9BYA4	Silent	SNP	ENST00000405659.1	37	c.696G>A	CCDS33632.2																																																																																				PASS	0.622	CCDC157-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320936.1	NM_001017437		7	107	7	107	---	---	---	---
MOSPD2	158747	broad.mit.edu	37	X	14936842	14936842	+	Missense_Mutation	SNP	C	C	G			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chrX:14936842C>G	ENST00000380492.3	+	14	1445	c.1357C>G	c.(1357-1359)Ctt>Gtt	p.L453V	MOSPD2_ENST00000482354.1_Missense_Mutation_p.L453V|MOSPD2_ENST00000495110.1_3'UTR	NM_001177475.1|NM_152581.3	NP_001170946.1|NP_689794.1	Q8NHP6	MSPD2_HUMAN	motile sperm domain containing 2	453						integral component of membrane (GO:0016021)|membrane (GO:0016020)	structural molecule activity (GO:0005198)	p.L453V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	Hepatocellular(33;0.183)					ACCAAACACTCTTACGTTAAA	0.279																																						uc004cwi.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(1357-1359)CTT>GTT		motile sperm domain containing 2							84.0	74.0	78.0					X																	14936842		2202	4298	6500	SO:0001583	missense	158747					integral to membrane	structural molecule activity	g.chrX:14936842C>G	AL834345	CCDS14162.1	Xp22.31	2006-03-16			ENSG00000130150	ENSG00000130150			28381	protein-coding gene	gene with protein product						15533722	Standard	NM_152581		Approved	MGC26706	uc004cwi.3	Q8NHP6	OTTHUMG00000021170	ENST00000380492.3:c.1357C>G	X.37:g.14936842C>G	ENSP00000369860:p.Leu453Val					MOSPD2_uc004cwj.2_Missense_Mutation_p.L390V	p.L453V	NM_152581	NP_689794	Q8NHP6	MSPD2_HUMAN			14	1445	+	Hepatocellular(33;0.183)		453					Q8N3H2|Q8NA83	Missense_Mutation	SNP	ENST00000380492.3	37	c.1357C>G	CCDS14162.1	.	.	.	.	.	.	.	.	.	.	C	9.824	1.186569	0.21870	.	.	ENSG00000130150	ENST00000380492	T	0.64260	-0.09	5.86	5.86	0.93980	PapD-like (1);	0.389282	0.28052	N	0.016790	T	0.55862	0.1947	M	0.67953	2.075	0.37122	D	0.900854	B	0.31227	0.314	B	0.30943	0.122	T	0.56062	-0.8041	10	0.13853	T	0.58	.	9.6202	0.39716	0.0:0.8403:0.0:0.1597	.	453	Q8NHP6	MSPD2_HUMAN	V	453	ENSP00000369860:L453V	ENSP00000369860:L453V	L	+	1	0	MOSPD2	14846763	0.891000	0.30450	0.787000	0.31911	0.811000	0.45836	1.123000	0.31308	2.614000	0.88457	0.594000	0.82650	CTT		PASS	0.279	MOSPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055837.1	NM_152581		33	77	33	77	---	---	---	---
ACE2	59272	broad.mit.edu	37	X	15605982	15605982	+	Splice_Site	SNP	C	C	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chrX:15605982C>T	ENST00000252519.3	-	6	799		c.e6-1		ACE2_ENST00000427411.1_Splice_Site			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2						angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|angiotensin-mediated drinking behavior (GO:0003051)|cellular protein metabolic process (GO:0044267)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|receptor biosynthetic process (GO:0032800)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell proliferation (GO:0042127)|regulation of cytokine production (GO:0001817)|regulation of inflammatory response (GO:0050727)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|response to virus (GO:0009615)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|endopeptidase activity (GO:0004175)|glycoprotein binding (GO:0001948)|peptide hormone binding (GO:0017046)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)	p.?(1)		endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Lisinopril(DB00722)|Moexipril(DB00691)	ATGGTTTAATCTGAAAAGCCC	0.368																																						uc004cxa.1																			1	Unknown(1)		lung(1)	ovary(3)	3						c.e6-1		angiotensin I converting enzyme 2 precursor	Moexipril(DB00691)						86.0	78.0	81.0					X																	15605982		2203	4300	6503	SO:0001630	splice_region_variant	59272				angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding	g.chrX:15605982C>T	AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	3.4.17.23		13557	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	300335	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 2"""			10969042	Standard	NM_021804		Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.697-1G>A	X.37:g.15605982C>T						ACE2_uc004cxb.2_Splice_Site_p.I233_splice	p.I233_splice	NM_021804	NP_068576	Q9BYF1	ACE2_HUMAN			6	865	-	Hepatocellular(33;0.183)							C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Splice_Site	SNP	ENST00000252519.3	37	c.697_splice	CCDS14169.1	.	.	.	.	.	.	.	.	.	.	c	15.23	2.772048	0.49680	.	.	ENSG00000130234	ENST00000252519;ENST00000427411	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0729	0.93147	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ACE2	15515903	1.000000	0.71417	1.000000	0.80357	0.331000	0.28603	7.292000	0.78731	2.454000	0.82982	0.597000	0.82753	.		PASS	0.368	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055867.1		Intron	7	75	7	75	---	---	---	---
PHKA2	5256	broad.mit.edu	37	X	18963197	18963197	+	Splice_Site	SNP	T	T	C			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chrX:18963197T>C	ENST00000379942.4	-	6	1282	c.617A>G	c.(616-618)aAg>aGg	p.K206R		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	206					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)	p.K206R(1)		NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					AACTGTCACCTTGGCCATTCC	0.438																																						uc004cyv.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(616-618)AAG>AGG		phosphorylase kinase, alpha 2 (liver)							186.0	159.0	169.0					X																	18963197		2203	4300	6503	SO:0001630	splice_region_variant	5256				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:18963197T>C		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.618+1A>G	X.37:g.18963197T>C						PHKA2_uc010nfh.1_RNA|PHKA2_uc010nfi.1_Missense_Mutation_p.K148R	p.K206R	NM_000292	NP_000283	P46019	KPB2_HUMAN			6	1047	-	Hepatocellular(33;0.183)		206					A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	ENST00000379942.4	37	c.617A>G	CCDS14190.1	.	.	.	.	.	.	.	.	.	.	T	19.29	3.800110	0.70567	.	.	ENSG00000044446	ENST00000379942	D	0.93307	-3.2	5.53	5.53	0.82687	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.042278	0.85682	N	0.000000	D	0.97393	0.9147	M	0.92412	3.305	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98281	1.0508	10	0.72032	D	0.01	-12.1239	14.8856	0.70567	0.0:0.0:0.0:1.0	.	206	P46019	KPB2_HUMAN	R	206	ENSP00000369274:K206R	ENSP00000369274:K206R	K	-	2	0	PHKA2	18873118	1.000000	0.71417	1.000000	0.80357	0.209000	0.24338	7.951000	0.87819	1.965000	0.57142	0.486000	0.48141	AAG		PASS	0.438	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292	Missense_Mutation	28	65	28	65	---	---	---	---
PDK3	5165	broad.mit.edu	37	X	24544369	24544369	+	Missense_Mutation	SNP	A	A	G			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chrX:24544369A>G	ENST00000379162.4	+	7	963	c.728A>G	c.(727-729)cAt>cGt	p.H243R	PDK3_ENST00000441463.2_Missense_Mutation_p.H243R	NM_005391.4	NP_005382.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	243	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cell death (GO:0008219)|cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to glucose stimulus (GO:0071333)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|peptidyl-serine phosphorylation (GO:0018105)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|regulation of reactive oxygen species metabolic process (GO:2000377)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)	p.H243R(2)		NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						CATCTGTTTCATATGCTATTT	0.368																																						uc004dbg.2																			2	Substitution - Missense(2)		lung(2)	lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						c.(727-729)CAT>CGT		pyruvate dehydrogenase kinase 3 isoform 2							135.0	110.0	118.0					X																	24544369		2203	4300	6503	SO:0001583	missense	5165				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chrX:24544369A>G	L42452	CCDS14212.1, CCDS48088.1	Xp22.12	2008-02-05	2005-11-16		ENSG00000067992	ENSG00000067992			8811	protein-coding gene	gene with protein product		300906	"""pyruvate dehydrogenase kinase, isoenzyme 3"""			7499431	Standard	NM_001142386		Approved		uc004dbh.3	Q15120	OTTHUMG00000021269	ENST00000379162.4:c.728A>G	X.37:g.24544369A>G	ENSP00000368460:p.His243Arg					PDK3_uc004dbh.2_Missense_Mutation_p.H243R	p.H243R	NM_005391	NP_005382	Q15120	PDK3_HUMAN			7	957	+			243			Histidine kinase.		B4DXG6	Missense_Mutation	SNP	ENST00000379162.4	37	c.728A>G	CCDS14212.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.206924	0.79127	.	.	ENSG00000067992	ENST00000379162;ENST00000441463	T;T	0.54071	0.59;0.59	4.94	4.94	0.65067	Signal transduction histidine kinase, core (1);ATPase-like, ATP-binding domain (4);	0.000000	0.85682	D	0.000000	T	0.67316	0.2880	M	0.65498	2.005	0.80722	D	1	D;D	0.61697	0.99;0.971	P;P	0.61477	0.889;0.889	T	0.71790	-0.4486	10	0.87932	D	0	.	13.8178	0.63303	1.0:0.0:0.0:0.0	.	243;243	B4DXG6;Q15120	.;PDK3_HUMAN	R	243	ENSP00000368460:H243R;ENSP00000387536:H243R	ENSP00000368460:H243R	H	+	2	0	PDK3	24454290	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.516000	0.90552	1.837000	0.53436	0.437000	0.28790	CAT		PASS	0.368	PDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056097.1	NM_005391		18	44	18	44	---	---	---	---
POLA1	5422	broad.mit.edu	37	X	24766501	24766501	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chrX:24766501G>A	ENST00000379059.3	+	25	2762	c.2747G>A	c.(2746-2748)cGg>cAg	p.R916Q	POLA1_ENST00000379068.3_Missense_Mutation_p.R922Q	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	916					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)	p.R916Q(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	AGAGAGATCCGGAAACTGGTA	0.398																																						uc004dbl.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2746-2748)CGG>CAG		DNA-directed DNA polymerase alpha 1	Clofarabine(DB00631)|Fludarabine(DB01073)						105.0	94.0	97.0					X																	24766501		2203	4300	6503	SO:0001583	missense	5422				cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding	g.chrX:24766501G>A		CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"""DNA polymerases"""	9173	protein-coding gene	gene with protein product		312040	"""polymerase (DNA directed), alpha"", ""polymerase (DNA directed), alpha 1"", ""N syndrome (mental retardation, malformations, chromosome breakage)"""	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.2747G>A	X.37:g.24766501G>A	ENSP00000368349:p.Arg916Gln						p.R916Q	NM_016937	NP_058633	P09884	DPOLA_HUMAN			25	2770	+			916					Q86UQ7	Missense_Mutation	SNP	ENST00000379059.3	37	c.2747G>A	CCDS14214.1	.	.	.	.	.	.	.	.	.	.	G	32	5.192524	0.94960	.	.	ENSG00000101868	ENST00000379068;ENST00000379059	T;T	0.17370	2.28;2.28	4.96	4.96	0.65561	DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.053916	0.64402	D	0.000001	T	0.37376	0.1001	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.02668	-1.1126	10	0.36615	T	0.2	-2.7913	17.2332	0.86990	0.0:0.0:1.0:0.0	.	916	P09884	DPOLA_HUMAN	Q	922;916	ENSP00000368358:R922Q;ENSP00000368349:R916Q	ENSP00000368349:R916Q	R	+	2	0	POLA1	24676422	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.114000	0.71560	2.438000	0.82558	0.600000	0.82982	CGG		PASS	0.398	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056111.1	NM_016937		11	38	11	38	---	---	---	---
DMD	1756	broad.mit.edu	37	X	32366646	32366646	+	Splice_Site	SNP	C	C	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chrX:32366646C>T	ENST00000357033.4	-	38	5532		c.e38-1		DMD_ENST00000378677.2_Splice_Site	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin						cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.?(4)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GAATGGAGGCCTAAAAAAAAA	0.333																																						uc004dda.1																			4	Unknown(4)		lung(4)	ovary(3)|pancreas(2)|large_intestine(1)	6						c.e38-1		dystrophin Dp427m isoform							49.0	44.0	46.0					X																	32366646		2200	4293	6493	SO:0001630	splice_region_variant	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32366646C>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.5326-1G>A	X.37:g.32366646C>T						DMD_uc004dcw.2_Splice_Site_p.A432_splice|DMD_uc004dcx.2_Splice_Site_p.A435_splice|DMD_uc004dcz.2_Splice_Site_p.A1653_splice|DMD_uc004dcy.1_Splice_Site_p.A1772_splice|DMD_uc004ddb.1_Splice_Site_p.A1768_splice|DMD_uc010ngo.1_Intron	p.A1776_splice	NM_004006	NP_003997	P11532	DMD_HUMAN			38	5570	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)						E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Splice_Site	SNP	ENST00000357033.4	37	c.5326_splice	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.023787	0.54683	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4768	0.90795	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DMD	32276567	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.622000	0.67750	2.306000	0.77630	0.462000	0.41574	.		PASS	0.333	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	Intron	14	21	14	21	---	---	---	---
FAM47A	158724	broad.mit.edu	37	X	34149282	34149282	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chrX:34149282C>A	ENST00000346193.3	-	1	1165	c.1114G>T	c.(1114-1116)Ggg>Tgg	p.G372W		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	372								p.G372W(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AGACTGGACCCCCGACGAGTC	0.632																																						uc004ddg.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(1)	5						c.(1114-1116)GGG>TGG		hypothetical protein LOC158724							35.0	36.0	36.0					X																	34149282		2199	4299	6498	SO:0001583	missense	158724							g.chrX:34149282C>A	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1114G>T	X.37:g.34149282C>A	ENSP00000345029:p.Gly372Trp						p.G372W	NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN			1	1147	-			372					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.1114G>T	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	c	6.063	0.380011	0.11466	.	.	ENSG00000185448	ENST00000346193	T	0.23147	1.92	0.226	-0.452	0.12205	.	.	.	.	.	T	0.16727	0.0402	L	0.34521	1.04	0.09310	N	1	P	0.49447	0.924	B	0.43360	0.417	T	0.10894	-1.0610	8	0.37606	T	0.19	.	.	.	.	.	372	Q5JRC9	FA47A_HUMAN	W	372	ENSP00000345029:G372W	ENSP00000345029:G372W	G	-	1	0	FAM47A	34059203	0.056000	0.20664	0.001000	0.08648	0.001000	0.01503	0.663000	0.25053	-0.901000	0.03891	-0.907000	0.02831	GGG		PASS	0.632	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		22	50	22	50	---	---	---	---
FAM47B	170062	broad.mit.edu	37	X	34961596	34961596	+	Silent	SNP	C	C	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chrX:34961596C>A	ENST00000329357.5	+	1	684	c.648C>A	c.(646-648)ccC>ccA	p.P216P		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	216	Pro-rich.							p.P216P(1)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CAGAGCCTCCCAAGACTCGGG	0.672													C|||	1	0.000264901	0.0	0.0	3775	,	,		10709	0.001		0.0	False		,,,				2504	0.0					uc004ddi.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(1)	4						c.(646-648)CCC>CCA		hypothetical protein LOC170062							38.0	41.0	40.0					X																	34961596		2202	4298	6500	SO:0001819	synonymous_variant	170062							g.chrX:34961596C>A	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.648C>A	X.37:g.34961596C>A							p.P216P	NM_152631	NP_689844	Q8NA70	FA47B_HUMAN			1	666	+			216			Pro-rich.		Q5JQN5|Q6PIG3	Silent	SNP	ENST00000329357.5	37	c.648C>A	CCDS14236.1																																																																																				PASS	0.672	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		25	63	25	63	---	---	---	---
MED14	9282	broad.mit.edu	37	X	40513614	40513614	+	Splice_Site	SNP	A	A	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chrX:40513614A>T	ENST00000324817.1	-	30	4410		c.e30+1			NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14						androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.?(1)		NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTGGTCATGTACCTTGTCGTG	0.433																																						uc004dex.3																			1	Unknown(1)		lung(1)	breast(2)|kidney(1)|skin(1)	4						c.e30+1		mediator complex subunit 14							81.0	71.0	74.0					X																	40513614		2203	4300	6503	SO:0001630	splice_region_variant	9282				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:40513614A>T	AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"""cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"""	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.4291+1T>A	X.37:g.40513614A>T						MED14_uc004dey.1_Silent_p.G333G	p.G1431_splice	NM_004229	NP_004220	O60244	MED14_HUMAN			30	4431	-								Q4KMR7|Q9UNB3	Splice_Site	SNP	ENST00000324817.1	37	c.4291_splice	CCDS14254.1	.	.	.	.	.	.	.	.	.	.	A	16.83	3.230472	0.58777	.	.	ENSG00000180182	ENST00000324817;ENST00000416199	.	.	.	4.66	4.66	0.58398	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3426	0.60553	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MED14	40398558	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.962000	0.93254	1.520000	0.48965	0.441000	0.28932	.		PASS	0.433	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060692.1	NM_004229	Intron	14	72	14	72	---	---	---	---
HUWE1	10075	broad.mit.edu	37	X	53592131	53592131	+	Missense_Mutation	SNP	C	C	G			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chrX:53592131C>G	ENST00000342160.3	-	49	7234	c.6777G>C	c.(6775-6777)caG>caC	p.Q2259H	HUWE1_ENST00000262854.6_Missense_Mutation_p.Q2259H			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2259					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.Q2122H(1)|p.Q2259H(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GGCTACTGGGCTGGTTCACAA	0.502																																						uc004dsp.2																			2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(6775-6777)CAG>CAC		HECT, UBA and WWE domain containing 1							125.0	103.0	111.0					X																	53592131		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53592131C>G	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.6777G>C	X.37:g.53592131C>G	ENSP00000340648:p.Gln2259His					HUWE1_uc004dsn.2_Missense_Mutation_p.Q1083H	p.Q2259H	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			50	7179	-			2259					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.6777G>C	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.04|13.04	2.117373|2.117373	0.37339|0.37339	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052|ENST00000342160;ENST00000262854	.|T;T	.|0.38240	.|1.15;1.15	5.21|5.21	2.43|2.43	0.29744|0.29744	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.42810|0.42810	0.1219|0.1219	L|L	0.36672|0.36672	1.1|1.1	0.48236|0.48236	D|D	0.999619|0.999619	.|D;D	.|0.60575	.|0.98;0.988	.|D;D	.|0.72338	.|0.948;0.977	T|T	0.11641|0.11641	-1.0579|-1.0579	5|10	.|0.26408	.|T	.|0.33	.|.	8.5173|8.5173	0.33253|0.33253	0.0:0.6554:0.0:0.3446|0.0:0.6554:0.0:0.3446	.|.	.|2259;2259	.|Q7Z6Z7;Q7Z6Z7-2	.|HUWE1_HUMAN;.	P|H	1293|2259	.|ENSP00000340648:Q2259H;ENSP00000262854:Q2259H	.|ENSP00000262854:Q2259H	A|Q	-|-	1|3	0|2	HUWE1|HUWE1	53608856|53608856	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	1.021000|1.021000	0.30040|0.30040	0.506000|0.506000	0.28125|0.28125	0.600000|0.600000	0.82982|0.82982	GCC|CAG		PASS	0.502	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		19	75	19	75	---	---	---	---
ITIH6	347365	broad.mit.edu	37	X	54780108	54780108	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chrX:54780108G>T	ENST00000218436.6	-	11	3357	c.3328C>A	c.(3328-3330)Cag>Aag	p.Q1110K		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	1110					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.Q1110K(1)									TCTATGAGCTGCAGCAAGTCC	0.522																																						uc004dtj.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|skin(2)|ovary(1)|breast(1)	6						c.(3328-3330)CAG>AAG		inter-alpha (globulin) inhibitor H5-like							113.0	94.0	101.0					X																	54780108		2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54780108G>T	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.3328C>A	X.37:g.54780108G>T	ENSP00000218436:p.Gln1110Lys						p.Q1110K	NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN			11	3358	-			1110					A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.3328C>A	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	G	4.093	0.015193	0.07959	.	.	ENSG00000102313	ENST00000218436	T	0.02236	4.38	3.25	2.32	0.28847	.	1.566040	0.04287	N	0.344892	T	0.01523	0.0049	N	0.03608	-0.345	0.21256	N	0.999749	B	0.09022	0.002	B	0.08055	0.003	T	0.48103	-0.9064	10	0.20046	T	0.44	.	8.4793	0.33032	0.0:0.0:0.5835:0.4165	.	1110	Q6UXX5	ITH5L_HUMAN	K	1110	ENSP00000218436:Q1110K	ENSP00000218436:Q1110K	Q	-	1	0	ITIH5L	54796833	0.953000	0.32496	0.670000	0.29842	0.187000	0.23431	1.567000	0.36407	0.192000	0.20272	0.417000	0.27973	CAG		PASS	0.522	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		23	63	23	63	---	---	---	---
TRO	7216	broad.mit.edu	37	X	54950182	54950182	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chrX:54950182G>A	ENST00000173898.7	+	3	1329	c.1217G>A	c.(1216-1218)cGg>cAg	p.R406Q	TRO_ENST00000375022.4_Missense_Mutation_p.R406Q|TRO_ENST00000484031.1_Intron|TRO_ENST00000420798.2_Intron|TRO_ENST00000319167.8_Missense_Mutation_p.R406Q|TRO_ENST00000399736.1_Intron|TRO_ENST00000375041.2_Intron	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	406					embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R406Q(2)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						ACCAGGACCCGGGGCAAAAGA	0.488																																						uc004dtq.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1216-1218)CGG>CAG		trophinin isoform 5							33.0	42.0	39.0					X																	54950182		1894	4117	6011	SO:0001583	missense	7216				embryo implantation|homophilic cell adhesion	integral to plasma membrane		g.chrX:54950182G>A	U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.1217G>A	X.37:g.54950182G>A	ENSP00000173898:p.Arg406Gln					TRO_uc011moj.1_Missense_Mutation_p.R349Q|TRO_uc004dts.2_Missense_Mutation_p.R406Q|TRO_uc004dtr.2_Missense_Mutation_p.R406Q|TRO_uc004dtt.2_RNA|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Intron|TRO_uc004dtw.2_Intron|TRO_uc004dtx.2_5'Flank	p.R406Q	NM_001039705	NP_001034794	Q12816	TROP_HUMAN			3	1324	+			406					B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	ENST00000173898.7	37	c.1217G>A	CCDS43959.1	.	.	.	.	.	.	.	.	.	.	G	9.479	1.097610	0.20552	.	.	ENSG00000067445	ENST00000173898;ENST00000319167;ENST00000375022	T;T;T	0.52983	0.64;0.64;0.64	2.7	-1.21	0.09524	.	.	.	.	.	T	0.20495	0.0493	N	0.12182	0.205	0.58432	D	0.999999	B;B	0.30686	0.148;0.29	B;B	0.17722	0.019;0.015	T	0.08146	-1.0736	8	.	.	.	.	6.3231	0.21229	0.5845:0.0:0.4155:0.0	.	406;406	Q96SX2;Q12816	.;TROP_HUMAN	Q	406	ENSP00000173898:R406Q;ENSP00000318278:R406Q;ENSP00000364162:R406Q	.	R	+	2	0	TRO	54966907	0.788000	0.28762	0.915000	0.36163	0.881000	0.50899	-0.017000	0.12590	-0.508000	0.06540	-0.513000	0.04457	CGG		PASS	0.488	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		14	44	14	44	---	---	---	---
ZXDB	158586	broad.mit.edu	37	X	57619097	57619097	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chrX:57619097G>A	ENST00000374888.1	+	1	829	c.616G>A	c.(616-618)Ggg>Agg	p.G206R		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	206					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.G206R(2)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						CCAGCAGCCCGGGTGTCTGAT	0.711																																						uc004dvd.2																			2	Substitution - Missense(2)		lung(1)|prostate(1)		0						c.(616-618)GGG>AGG		zinc finger, X-linked, duplicated B							12.0	14.0	13.0					X																	57619097		2186	4257	6443	SO:0001583	missense	158586				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chrX:57619097G>A	L14788	CCDS35313.1	Xp11.1	2013-01-08			ENSG00000198455	ENSG00000198455		"""Zinc fingers, C2H2-type"""	13199	protein-coding gene	gene with protein product		300236				8268913	Standard	NM_007157		Approved	ZNF905	uc004dvd.3	P98169	OTTHUMG00000021685	ENST00000374888.1:c.616G>A	X.37:g.57619097G>A	ENSP00000364023:p.Gly206Arg						p.G206R	NM_007157	NP_009088	P98169	ZXDB_HUMAN			1	829	+			206					A8K151|Q9UBB3	Missense_Mutation	SNP	ENST00000374888.1	37	c.616G>A	CCDS35313.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.654782	0.00108	.	.	ENSG00000198455	ENST00000374888	T	0.11063	2.81	2.65	1.78	0.24846	.	0.160870	0.29602	N	0.011697	T	0.04452	0.0122	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41787	-0.9489	10	0.15952	T	0.53	.	4.3042	0.10938	0.3435:0.0:0.6565:0.0	.	206	P98169	ZXDB_HUMAN	R	206	ENSP00000364023:G206R	ENSP00000364023:G206R	G	+	1	0	ZXDB	57635822	0.000000	0.05858	0.002000	0.10522	0.045000	0.14185	-0.287000	0.08388	0.520000	0.28426	0.556000	0.70494	GGG		PASS	0.711	ZXDB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056922.1	NM_007157		3	44	3	44	---	---	---	---
SNX12	29934	broad.mit.edu	37	X	70288146	70288146	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chrX:70288146G>T	ENST00000374274.3	-	1	127	c.11C>A	c.(10-12)aCg>aAg	p.T4K	SNX12_ENST00000465030.1_5'UTR|SNX12_ENST00000276105.3_Missense_Mutation_p.T4K	NM_001256185.1|NM_001256188.1|NM_013346.3	NP_001243114.1|NP_001243117.1|NP_037478.2	Q9UMY4	SNX12_HUMAN	sorting nexin 12	4					intracellular protein transport (GO:0006886)|negative regulation of early endosome to late endosome transport (GO:2000642)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein processing (GO:0010955)|negative regulation of protein transport (GO:0051224)|regulation of endocytosis (GO:0030100)	early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	enzyme binding (GO:0019899)|phosphatidylinositol binding (GO:0035091)	p.T4K(1)		endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	Renal(35;0.156)					AGCTACTGCCGTGTCCGACAT	0.617																																						uc004dyr.1																			1	Substitution - Missense(1)		lung(1)		0						c.(10-12)ACG>AAG		sorting nexin 12							35.0	28.0	30.0					X																	70288146		2201	4299	6500	SO:0001583	missense	29934				cell communication|protein transport	membrane	phosphatidylinositol binding|protein binding	g.chrX:70288146G>T	AF171229	CCDS14405.1, CCDS59169.1	Xq13.1	2008-03-11			ENSG00000147164	ENSG00000147164		"""Sorting nexins"""	14976	protein-coding gene	gene with protein product		300883					Standard	NM_013346		Approved		uc004dyr.2	Q9UMY4	OTTHUMG00000021786	ENST00000374274.3:c.11C>A	X.37:g.70288146G>T	ENSP00000363392:p.Thr4Lys					SNX12_uc004dyp.1_RNA	p.T4K	NM_013346	NP_037478	Q9UMY4	SNX12_HUMAN			1	86	-	Renal(35;0.156)		4					F8W8K5|Q8WUG9	Missense_Mutation	SNP	ENST00000374274.3	37	c.11C>A	CCDS14405.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.008310	0.54361	.	.	ENSG00000147164	ENST00000374274;ENST00000276105	T;T	0.63255	-0.03;-0.02	5.37	3.58	0.41010	.	0.171037	0.50627	D	0.000104	T	0.46580	0.1400	L	0.27053	0.805	0.29584	N	0.848965	B	0.13145	0.007	B	0.20767	0.031	T	0.40887	-0.9539	10	0.39692	T	0.17	-10.8632	8.8779	0.35356	0.0799:0.0:0.7711:0.1491	.	4	Q3SYF1	.	K	4	ENSP00000363392:T4K;ENSP00000276105:T4K	ENSP00000276105:T4K	T	-	2	0	SNX12	70204871	1.000000	0.71417	0.519000	0.27824	0.802000	0.45316	5.099000	0.64554	0.548000	0.28955	0.544000	0.68410	ACG		PASS	0.617	SNX12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057094.1	NM_013346		11	16	11	16	---	---	---	---
CXorf65	158830	broad.mit.edu	37	X	70323957	70323957	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chrX:70323957C>A	ENST00000374251.5	-	6	480	c.432G>T	c.(430-432)aaG>aaT	p.K144N		NM_001025265.2	NP_001020436.1	A6NEN9	CX065_HUMAN	chromosome X open reading frame 65	144								p.K144N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)	10						GTCCTGATTGCTTGGACTAGA	0.443																																						uc011mpo.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(430-432)AAG>AAT		hypothetical protein LOC158830							67.0	54.0	58.0					X																	70323957		2203	4300	6503	SO:0001583	missense	158830							g.chrX:70323957C>A	BC144434	CCDS35324.1	Xq13.1	2009-03-06			ENSG00000204165	ENSG00000204165			33713	protein-coding gene	gene with protein product							Standard	NM_001025265		Approved		uc011mpo.2	A6NEN9	OTTHUMG00000021785	ENST00000374251.5:c.432G>T	X.37:g.70323957C>A	ENSP00000363369:p.Lys144Asn					CXorf65_uc011mpp.1_Missense_Mutation_p.K96N	p.K144N	NM_001025265	NP_001020436	A6NEN9	CX065_HUMAN			6	446	-			144						Missense_Mutation	SNP	ENST00000374251.5	37	c.432G>T	CCDS35324.1	.	.	.	.	.	.	.	.	.	.	C	9.655	1.142604	0.21205	.	.	ENSG00000204165	ENST00000374251;ENST00000438526	T;T	0.61392	0.69;0.11	2.47	-0.168	0.13343	.	0.528949	0.19345	N	0.116550	T	0.53334	0.1790	L	0.38175	1.15	0.20764	N	0.999858	D	0.61080	0.989	P	0.58721	0.844	T	0.44143	-0.9347	10	0.39692	T	0.17	-0.525	4.4972	0.11842	0.0:0.3929:0.0:0.6071	.	144	A6NEN9	CX065_HUMAN	N	144;164	ENSP00000363369:K144N;ENSP00000411354:K164N	ENSP00000363369:K144N	K	-	3	2	CXorf65	70240682	0.501000	0.26099	0.057000	0.19452	0.005000	0.04900	0.310000	0.19356	-0.230000	0.09840	-0.340000	0.08031	AAG		PASS	0.443	CXorf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057089.2	NM_001025265		23	41	23	41	---	---	---	---
ZMYM3	9203	broad.mit.edu	37	X	70469495	70469495	+	Missense_Mutation	SNP	T	T	G			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chrX:70469495T>G	ENST00000353904.2	-	7	1473	c.1286A>C	c.(1285-1287)cAc>cCc	p.H429P	ZMYM3_ENST00000373998.1_Missense_Mutation_p.H429P|ZMYM3_ENST00000314425.5_Missense_Mutation_p.H429P|ZMYM3_ENST00000373984.3_Missense_Mutation_p.H431P|ZMYM3_ENST00000373988.1_Missense_Mutation_p.H431P|ZMYM3_ENST00000373981.1_Missense_Mutation_p.H429P|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373982.1_Missense_Mutation_p.H431P|ZMYM3_ENST00000373978.1_Missense_Mutation_p.T333P	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	429					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.H429P(1)		breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GCAGAGCCGGTGTACCACGCT	0.582																																						uc004dzh.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1285-1287)CAC>CCC		zinc finger protein 261							123.0	80.0	95.0					X																	70469495		2203	4300	6503	SO:0001583	missense	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70469495T>G	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.1286A>C	X.37:g.70469495T>G	ENSP00000343909:p.His429Pro					BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Missense_Mutation_p.H429P|ZMYM3_uc004dzj.1_Missense_Mutation_p.H429P|ZMYM3_uc011mpu.1_Missense_Mutation_p.H160P|ZMYM3_uc004dzk.3_Missense_Mutation_p.H429P|ZMYM3_uc004dzl.3_Missense_Mutation_p.H429P|ZMYM3_uc004dzm.3_Missense_Mutation_p.H429P	p.H429P	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN			7	1373	-	Renal(35;0.156)		429			MYM-type 3.		D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	c.1286A>C	CCDS14409.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	16.00|16.00	2.997368|2.997368	0.54147|0.54147	.|.	.|.	ENSG00000147130|ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988;ENST00000373982;ENST00000373981|ENST00000373978	T;T;T;T;T;T;T|.	0.55760|.	1.1;0.5;1.1;1.1;1.1;0.58;0.58|.	4.43|4.43	4.43|4.43	0.53597|0.53597	TRASH (1);Zinc finger, MYM-type (1);|.	0.000000|.	0.64402|.	D|.	0.000005|.	T|T	0.70290|0.70290	0.3207|0.3207	M|M	0.68317|0.68317	2.08|2.08	0.46078|0.46078	D|D	0.998855|0.998855	D;D;D;D|.	0.89917|.	0.999;0.999;1.0;1.0|.	D;D;D;D|.	0.97110|.	0.998;0.998;1.0;1.0|.	T|T	0.70648|0.70648	-0.4814|-0.4814	10|5	0.72032|.	D|.	0.01|.	-3.3721|-3.3721	12.9701|12.9701	0.58508|0.58508	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	431;429;429;429|.	A6NL54;Q96E26;Q14202-2;Q14202|.	.;.;.;ZMYM3_HUMAN|.	P|P	429;429;429;431;431;431;429|333	ENSP00000322845:H429P;ENSP00000363110:H429P;ENSP00000343909:H429P;ENSP00000363096:H431P;ENSP00000363100:H431P;ENSP00000363094:H431P;ENSP00000363093:H429P|.	ENSP00000322845:H429P|.	H|T	-|-	2|1	0|0	ZMYM3|ZMYM3	70386220|70386220	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	7.467000|7.467000	0.80930|0.80930	1.631000|1.631000	0.50456|0.50456	0.378000|0.378000	0.23410|0.23410	CAC|ACC		PASS	0.582	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		7	84	7	84	---	---	---	---
RLIM	51132	broad.mit.edu	37	X	73812546	73812546	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chrX:73812546C>A	ENST00000332687.6	-	4	822	c.604G>T	c.(604-606)Gtc>Ttc	p.V202F	RLIM_ENST00000349225.2_Missense_Mutation_p.V202F	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	202					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V202F(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTAGGTGGGACCTCTGTTAAC	0.498																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	uc004ebu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(604-606)GTC>TTC		ring finger protein, LIM domain interacting							179.0	151.0	160.0					X																	73812546		2203	4300	6503	SO:0001583	missense	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73812546C>A	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.604G>T	X.37:g.73812546C>A	ENSP00000328059:p.Val202Phe					RLIM_uc004ebw.2_Missense_Mutation_p.V202F	p.V202F	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN			5	894	-			202					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Missense_Mutation	SNP	ENST00000332687.6	37	c.604G>T	CCDS14427.1	.	.	.	.	.	.	.	.	.	.	C	11.37	1.618396	0.28801	.	.	ENSG00000131263	ENST00000332687;ENST00000349225	T;T	0.08807	3.05;3.05	6.05	4.19	0.49359	.	0.706718	0.14051	N	0.344775	T	0.09291	0.0229	L	0.43923	1.385	0.21762	N	0.99955	B	0.22909	0.077	B	0.23574	0.047	T	0.19418	-1.0306	10	0.42905	T	0.14	-0.412	10.7693	0.46312	0.0:0.8:0.128:0.072	.	202	Q9NVW2	RNF12_HUMAN	F	202	ENSP00000328059:V202F;ENSP00000253571:V202F	ENSP00000328059:V202F	V	-	1	0	RLIM	73729271	0.351000	0.24887	0.409000	0.26459	0.304000	0.27724	0.733000	0.26087	1.308000	0.44962	-0.199000	0.12753	GTC		PASS	0.498	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		56	333	56	333	---	---	---	---
ARL13A	392509	broad.mit.edu	37	X	100242485	100242485	+	Missense_Mutation	SNP	C	C	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chrX:100242485C>T	ENST00000450049.2	+	6	706	c.593C>T	c.(592-594)aCc>aTc	p.T198I		NM_001162491.1	NP_001155963.1	Q5H913	AR13A_HUMAN	ADP-ribosylation factor-like 13A	198					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			endometrium(1)|ovary(1)	2						CTACCACCTACCTCGAGCATC	0.453																																						uc004ego.2																			0				ovary(1)	1						c.(592-594)ACC>ATC		ADP-ribosylation factor-like 13 isoform a							113.0	102.0	105.0					X																	100242485		1945	4125	6070	SO:0001583	missense	392509						GTP binding	g.chrX:100242485C>T		CCDS55463.1	Xq22.1	2014-05-09	2005-11-18	2005-11-18	ENSG00000174225	ENSG00000174225		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	31709	protein-coding gene	gene with protein product			"""ADP-ribosylation factor-like 13"""	ARL13			Standard	NM_001162491		Approved		uc011mrf.2	Q5H913	OTTHUMG00000022013	ENST00000450049.2:c.593C>T	X.37:g.100242485C>T	ENSP00000398637:p.Thr198Ile					ARL13A_uc011mrf.1_Missense_Mutation_p.T198I|ARL13A_uc010nng.2_Missense_Mutation_p.T198I	p.T198I	NM_001012990	NP_001013008	Q5H913	AR13A_HUMAN			6	709	+			198					B2RTT6|B4DX50	Missense_Mutation	SNP	ENST00000450049.2	37	c.593C>T	CCDS55463.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.329955	0.24167	.	.	ENSG00000174225	ENST00000450049;ENST00000372953	T	0.58652	0.32	4.56	0.809	0.18725	.	0.777423	0.12639	N	0.451515	T	0.37293	0.0998	N	0.24115	0.695	0.09310	N	1	P;P	0.49961	0.883;0.93	B;B	0.44044	0.439;0.36	T	0.16897	-1.0387	10	0.32370	T	0.25	.	1.1506	0.01785	0.1798:0.4433:0.1715:0.2054	.	198;198	B2RTT6;Q5H913	.;AR13A_HUMAN	I	198;72	ENSP00000398637:T198I	ENSP00000362044:T72I	T	+	2	0	ARL13A	100129141	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.192000	0.17096	0.016000	0.14998	-0.208000	0.12717	ACC		PASS	0.453	ARL13A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000057504.2	XM_373358		11	155	11	155	---	---	---	---
TEX13A	56157	broad.mit.edu	37	X	104464650	104464650	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chrX:104464650G>T	ENST00000413579.1	-	2	543	c.432C>A	c.(430-432)gaC>gaA	p.D144E	TEX13A_ENST00000372578.3_Missense_Mutation_p.D144E|IL1RAPL2_ENST00000372582.1_Intron|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.D144E			Q9BXU3	TX13A_HUMAN	testis expressed 13A	144							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						AACTCACCTTGTCTCTCTCTT	0.612																																						uc004ema.2																			0				ovary(2)	2						c.(430-432)GAC>GAA		testis expressed sequence 13A							32.0	32.0	32.0					X																	104464650		2127	4200	6327	SO:0001583	missense	56157					intracellular	zinc ion binding	g.chrX:104464650G>T	AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"""testis expressed sequence 13A"""			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.432C>A	X.37:g.104464650G>T	ENSP00000399753:p.Asp144Glu					IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.2_Missense_Mutation_p.D144E	p.D144E	NM_031274	NP_112564	Q9BXU3	TX13A_HUMAN			2	544	-			144					B1B1G8|Q32NB6	Missense_Mutation	SNP	ENST00000413579.1	37	c.432C>A		.	.	.	.	.	.	.	.	.	.	G	10.30	1.311921	0.23821	.	.	ENSG00000133149	ENST00000372578;ENST00000372575;ENST00000413579	.	.	.	2.84	1.05	0.20165	.	0.000000	0.36200	N	0.002735	T	0.28400	0.0702	.	.	.	0.09310	N	1	P;P	0.38922	0.651;0.651	B;B	0.42112	0.376;0.376	T	0.10451	-1.0629	8	0.46703	T	0.11	.	4.5501	0.12108	0.3298:0.0:0.6702:0.0	.	144;144	C9JWK0;Q9BXU3	.;TX13A_HUMAN	E	144	.	ENSP00000361656:D144E	D	-	3	2	TEX13A	104351306	0.023000	0.18921	0.001000	0.08648	0.003000	0.03518	0.362000	0.20284	0.159000	0.19401	0.506000	0.49869	GAC		PASS	0.612	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_031274		40	57	40	57	---	---	---	---
NRK	203447	broad.mit.edu	37	X	105153033	105153033	+	Missense_Mutation	SNP	C	C	G			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chrX:105153033C>G	ENST00000243300.9	+	13	1703	c.1400C>G	c.(1399-1401)gCa>gGa	p.A467G	NRK_ENST00000428173.2_Missense_Mutation_p.A468G	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	467	Gln-rich.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.A468G(1)|p.A467G(1)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CAGATTAAGGCACCTCCACGA	0.552										HNSCC(51;0.14)																												uc004emd.2																			2	Substitution - Missense(2)		lung(2)	breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						c.(1399-1401)GCA>GGA		Nik related kinase							36.0	37.0	37.0					X																	105153033		2051	4161	6212	SO:0001583	missense	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105153033C>G	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.1400C>G	X.37:g.105153033C>G	ENSP00000434830:p.Ala467Gly	HNSCC(51;0.14)				NRK_uc010npc.1_Missense_Mutation_p.A135G	p.A467G	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN			13	1703	+			467			Gln-rich.		Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37	c.1400C>G		.	.	.	.	.	.	.	.	.	.	C	14.43	2.533134	0.45073	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.25414	1.8;1.8	4.49	4.49	0.54785	.	0.282367	0.25616	N	0.029452	T	0.39358	0.1075	L	0.55481	1.735	0.80722	D	1	D;B	0.60160	0.987;0.057	P;B	0.57009	0.811;0.025	T	0.11179	-1.0598	10	0.48119	T	0.1	.	14.0168	0.64529	0.0:1.0:0.0:0.0	.	135;467	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	G	467;468	ENSP00000434830:A467G;ENSP00000438378:A468G	ENSP00000434830:A467G	A	+	2	0	NRK	105039689	0.994000	0.37717	0.973000	0.42090	0.493000	0.33554	3.018000	0.49625	2.481000	0.83766	0.600000	0.82982	GCA		PASS	0.552	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		29	41	29	41	---	---	---	---
NRK	203447	broad.mit.edu	37	X	105168796	105168796	+	Nonsense_Mutation	SNP	G	G	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chrX:105168796G>T	ENST00000243300.9	+	19	3388	c.3085G>T	c.(3085-3087)Gga>Tga	p.G1029*	NRK_ENST00000428173.2_Nonsense_Mutation_p.G1030*	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1029					activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.G1029V(1)|p.G1030*(1)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TAGAAGCCATGGAGGAAGTGC	0.502										HNSCC(51;0.14)																												uc004emd.2																			2	Substitution - Missense(1)|Substitution - Nonsense(1)		lung(2)	breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						c.(3085-3087)GGA>TGA		Nik related kinase							84.0	83.0	83.0					X																	105168796		2109	4203	6312	SO:0001587	stop_gained	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105168796G>T	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.3085G>T	X.37:g.105168796G>T	ENSP00000434830:p.Gly1029*	HNSCC(51;0.14)				NRK_uc010npc.1_Nonsense_Mutation_p.G697*	p.G1029*	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN			19	3388	+			1029					Q32ND6|Q5H9K2|Q6ZMP2	Nonsense_Mutation	SNP	ENST00000243300.9	37	c.3085G>T		.	.	.	.	.	.	.	.	.	.	G	40	8.299154	0.98750	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	.	.	.	3.65	2.77	0.32553	.	0.543191	0.15517	N	0.258242	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	7.4636	0.27310	0.0:0.0:0.7433:0.2567	.	.	.	.	X	1029;1030	.	ENSP00000434830:G1029X	G	+	1	0	NRK	105055452	0.019000	0.18553	0.002000	0.10522	0.069000	0.16628	2.256000	0.43231	0.884000	0.36064	0.513000	0.50165	GGA		PASS	0.502	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		25	25	25	25	---	---	---	---
IRS4	8471	broad.mit.edu	37	X	107979218	107979218	+	Silent	SNP	C	C	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chrX:107979218C>A	ENST00000372129.2	-	1	433	c.357G>T	c.(355-357)cgG>cgT	p.R119R	RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.3_ENST00000436013.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	119	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)	p.R119R(1)		NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GGACACTGTGCCGGAACTTCC	0.652																																						uc004eoc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						c.(355-357)CGG>CGT		insulin receptor substrate 4							32.0	29.0	30.0					X																	107979218		2199	4289	6488	SO:0001819	synonymous_variant	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107979218C>A	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.357G>T	X.37:g.107979218C>A							p.R119R	NM_003604	NP_003595	O14654	IRS4_HUMAN			1	390	-			119			PH.			Silent	SNP	ENST00000372129.2	37	c.357G>T	CCDS14544.1																																																																																				PASS	0.652	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		31	72	31	72	---	---	---	---
DOCK11	139818	broad.mit.edu	37	X	117743289	117743289	+	Missense_Mutation	SNP	T	T	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chrX:117743289T>A	ENST00000276202.7	+	27	2989	c.2926T>A	c.(2926-2928)Ttg>Atg	p.L976M	DOCK11_ENST00000276204.6_Missense_Mutation_p.L976M	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	976					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L976M(1)		breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						GGCCACATACTTGTTGGAAGA	0.279																																						uc004eqp.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2926-2928)TTG>ATG		dedicator of cytokinesis 11							42.0	45.0	44.0					X																	117743289		2199	4288	6487	SO:0001583	missense	139818				blood coagulation	cytosol	GTP binding	g.chrX:117743289T>A	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.2926T>A	X.37:g.117743289T>A	ENSP00000276202:p.Leu976Met					DOCK11_uc004eqq.2_Missense_Mutation_p.L742M	p.L976M	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN			27	2989	+			976					A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	c.2926T>A	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	T	15.99	2.994996	0.54041	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.04156	3.69;3.69	5.37	5.37	0.77165	.	0.000000	0.64402	D	0.000001	T	0.15522	0.0374	M	0.86502	2.82	0.46458	D	0.999054	P;D	0.67145	0.949;0.996	P;P	0.53401	0.607;0.725	T	0.00613	-1.1644	10	0.72032	D	0.01	-6.5935	7.4578	0.27276	0.0:0.1647:0.0:0.8353	.	976;976	A6NIW2;Q5JSL3	.;DOC11_HUMAN	M	976	ENSP00000276204:L976M;ENSP00000276202:L976M	ENSP00000276202:L976M	L	+	1	2	DOCK11	117627317	1.000000	0.71417	0.988000	0.46212	0.590000	0.36582	1.358000	0.34102	1.906000	0.55180	0.441000	0.28932	TTG		PASS	0.279	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		41	141	41	141	---	---	---	---
UBE2A	7319	broad.mit.edu	37	X	118717208	118717208	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chrX:118717208G>T	ENST00000371558.2	+	6	623	c.449G>T	c.(448-450)cGt>cTt	p.R150L	UBE2A_ENST00000371569.5_Missense_Mutation_p.R75L|UBE2A_ENST00000346330.3_Missense_Mutation_p.R120L	NM_001282161.1|NM_003336.2|NM_181762.1	NP_001269090.1|NP_003327.2|NP_861427.1	P49459	UBE2A_HUMAN	ubiquitin-conjugating enzyme E2A	150					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|DNA repair (GO:0006281)|histone H2A ubiquitination (GO:0033522)|in utero embryonic development (GO:0001701)|maternal process involved in female pregnancy (GO:0060135)|positive regulation of cell proliferation (GO:0008284)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|response to UV (GO:0009411)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|cytosol (GO:0005829)|HULC complex (GO:0033503)|nuclear chromatin (GO:0000790)|XY body (GO:0001741)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)	p.R120L(1)|p.R150L(1)		haematopoietic_and_lymphoid_tissue(1)|lung(7)	8						CAAAGCTGGCGTGATTGTTGA	0.423								Rad6 pathway																														uc004erl.2																			2	Substitution - Missense(2)		lung(2)		0						c.(448-450)CGT>CTT	Direct_reversal_of_damage|Rad6_pathway	ubiquitin-conjugating enzyme E2A isoform 1							121.0	112.0	115.0					X																	118717208		2203	4300	6503	SO:0001583	missense	7319				histone H2A ubiquitination|positive regulation of cell proliferation|postreplication repair|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|response to UV|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity	g.chrX:118717208G>T	AK223045	CCDS14580.1, CCDS14581.1	Xq24	2011-05-19	2011-05-19		ENSG00000077721	ENSG00000077721		"""Ubiquitin-conjugating enzymes E2"""	12472	protein-coding gene	gene with protein product		312180	"""ubiquitin-conjugating enzyme E2A (RAD6 homolog)"""			1559696	Standard	NM_003336		Approved	UBC2, HHR6A, RAD6A	uc004erl.3	P49459	OTTHUMG00000022275	ENST00000371558.2:c.449G>T	X.37:g.118717208G>T	ENSP00000360613:p.Arg150Leu					UBE2A_uc004erm.2_Missense_Mutation_p.R120L|UBE2A_uc004ern.2_RNA|UBE2A_uc004ero.2_RNA|UBE2A_uc004erp.2_Missense_Mutation_p.R75L	p.R150L	NM_003336	NP_003327	P49459	UBE2A_HUMAN			6	625	+			150					A6NFE9|A6NGR2|A6NMF5|B2R7R9|D3DWI1|Q4TTG1|Q96FX4	Missense_Mutation	SNP	ENST00000371558.2	37	c.449G>T	CCDS14580.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.754752	0.31046	.	.	ENSG00000077721	ENST00000371558;ENST00000346330;ENST00000371569	T;T;T	0.71934	0.36;-0.61;0.96	6.04	5.17	0.71159	.	0.377447	0.36628	N	0.002483	T	0.45836	0.1362	N	0.04148	-0.265	0.54753	D	0.999982	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.43702	-0.9375	10	0.11794	T	0.64	-22.3654	12.7403	0.57249	0.0794:0.0:0.9206:0.0	.	120;150	A6NGR2;P49459	.;UBE2A_HUMAN	L	150;120;75	ENSP00000360613:R150L;ENSP00000335027:R120L;ENSP00000360624:R75L	ENSP00000335027:R120L	R	+	2	0	UBE2A	118601236	1.000000	0.71417	0.957000	0.39632	0.659000	0.38960	8.011000	0.88624	2.558000	0.86282	0.594000	0.82650	CGT		PASS	0.423	UBE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058036.1	NM_003336		40	190	40	190	---	---	---	---
HS6ST2	90161	broad.mit.edu	37	X	131762512	131762512	+	Silent	SNP	T	T	C			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chrX:131762512T>C	ENST00000370836.2	-	4	1972	c.1557A>G	c.(1555-1557)aaA>aaG	p.K519K	HS6ST2_ENST00000521489.1_Silent_p.K559K|HS6ST2_ENST00000406696.3_Silent_p.K245K|HS6ST2_ENST00000370833.2_Silent_p.K413K	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	519					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)	p.K559K(1)|p.K373K(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					CCTTCAGAAATTTGCGTTGTT	0.493																																						uc011mve.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(1555-1557)AAA>AAG		heparan sulfate 6-O-sulfotransferase 2 isoform							92.0	89.0	90.0					X																	131762512		1967	4123	6090	SO:0001819	synonymous_variant	90161					integral to membrane	sulfotransferase activity	g.chrX:131762512T>C	AB067776	CCDS48169.1, CCDS48170.1	Xq26.2	2008-02-05			ENSG00000171004	ENSG00000171004		"""Sulfotransferases, membrane-bound"""	19133	protein-coding gene	gene with protein product		300545				10644753	Standard	NM_147175		Approved		uc011mvd.1	Q96MM7	OTTHUMG00000022430	ENST00000370836.2:c.1557A>G	X.37:g.131762512T>C						HS6ST2_uc011mvb.1_Silent_p.K413K|HS6ST2_uc011mvc.1_Silent_p.K373K|HS6ST2_uc011mvd.1_Silent_p.K559K|HS6ST2_uc011mva.1_Silent_p.K245K	p.K519K	NM_147175	NP_671704	Q96MM7	H6ST2_HUMAN			4	1973	-	Acute lymphoblastic leukemia(192;0.000127)		519			Lumenal (Potential).		B9WRT4|B9WRT5|E9PDY5|Q2TB13|Q4VC07|Q6PIC4|Q86SM9|Q8N3T4|Q8NBN4|Q96SJ4	Silent	SNP	ENST00000370836.2	37	c.1557A>G	CCDS48169.1																																																																																				PASS	0.493	HS6ST2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058332.3	NM_147174		38	118	38	118	---	---	---	---
GPR112	139378	broad.mit.edu	37	X	135432363	135432363	+	Silent	SNP	T	T	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chrX:135432363T>A	ENST00000394143.1	+	6	6789	c.6498T>A	c.(6496-6498)tcT>tcA	p.S2166S	GPR112_ENST00000370652.1_Silent_p.S2166S|GPR112_ENST00000287534.4_Silent_p.S2103S|GPR112_ENST00000394141.1_Silent_p.S1961S|GPR112_ENST00000412101.1_Silent_p.S1961S	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2166					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S2166S(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CATCACCCTCTACTTTAATTA	0.443																																						uc004ezu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(6496-6498)TCT>TCA		G-protein coupled receptor 112							153.0	134.0	141.0					X																	135432363		2203	4300	6503	SO:0001819	synonymous_variant	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135432363T>A	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.6498T>A	X.37:g.135432363T>A						GPR112_uc010nsb.1_Silent_p.S1961S|GPR112_uc010nsc.1_Silent_p.S1933S	p.S2166S	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			6	6789	+	Acute lymphoblastic leukemia(192;0.000127)		2166			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	ENST00000394143.1	37	c.6498T>A	CCDS35409.1																																																																																				PASS	0.443	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			48	151	48	151	---	---	---	---
MAGEC1	9947	broad.mit.edu	37	X	140995353	140995353	+	Silent	SNP	C	C	A			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chrX:140995353C>A	ENST00000285879.4	+	4	2449	c.2163C>A	c.(2161-2163)ctC>ctA	p.L721L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	721								p.L721L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGGACTCCCTCTCTCCTCTCC	0.542										HNSCC(15;0.026)																												uc004fbt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(2161-2163)CTC>CTA		melanoma antigen family C, 1							92.0	98.0	96.0					X																	140995353		2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140995353C>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2163C>A	X.37:g.140995353C>A		HNSCC(15;0.026)				MAGEC1_uc010nsl.1_Intron	p.L721L	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	2449	+	Acute lymphoblastic leukemia(192;6.56e-05)		721					A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.2163C>A	CCDS35417.1																																																																																				PASS	0.542	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		67	235	67	235	---	---	---	---
UBE2NL	389898	broad.mit.edu	37	X	142967587	142967587	+	Missense_Mutation	SNP	C	C	G			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chrX:142967587C>G	ENST00000370494.1	+	1	415	c.385C>G	c.(385-387)Cag>Gag	p.Q129E		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like (gene/pseudogene)	129						extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)	p.Q129E(1)		breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					TGTAGTGGAGCAGTGGAAGAC	0.463																																						uc004fca.2																			1	Substitution - Missense(1)		lung(1)		0						c.(385-387)CAG>GAG		ubiquitin-conjugating enzyme E2N-like							145.0	120.0	128.0					X																	142967587		2203	4300	6503	SO:0001583	missense	389898						acid-amino acid ligase activity	g.chrX:142967587C>G			Xq27.3	2014-06-11	2014-06-11		ENSG00000102069			"""Ubiquitin-conjugating enzymes E2"""	31710	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2N-like"""			20736409	Standard	NM_001012989		Approved		uc004fca.3	Q5JXB2	OTTHUMG00000022586	ENST00000370494.1:c.385C>G	X.37:g.142967587C>G	ENSP00000359525:p.Gln129Glu						p.Q129E	NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN			1	415	+	Acute lymphoblastic leukemia(192;6.56e-05)		129					E9KL27	Missense_Mutation	SNP	ENST00000370494.1	37	c.385C>G	CCDS35420.1	.	.	.	.	.	.	.	.	.	.	C	0.079	-1.187908	0.01607	.	.	ENSG00000102069	ENST00000370494	T	0.71698	-0.59	1.16	1.16	0.20824	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.30219	U	0.010137	T	0.43322	0.1242	N	0.13371	0.34	0.53005	D	0.999967	B	0.02656	0.0	B	0.04013	0.001	T	0.36114	-0.9761	10	0.02654	T	1	1.5165	7.9726	0.30136	0.0:1.0:0.0:0.0	.	129	Q5JXB2	UE2NL_HUMAN	E	129	ENSP00000359525:Q129E	ENSP00000359525:Q129E	Q	+	1	0	UBE2NL	142795253	1.000000	0.71417	1.000000	0.80357	0.127000	0.20565	2.459000	0.45023	0.899000	0.36444	0.181000	0.17075	CAG		PASS	0.463	UBE2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058624.1	NM_001012989		41	147	41	147	---	---	---	---
ZNF185	7739	broad.mit.edu	37	X	152128349	152128349	+	Missense_Mutation	SNP	A	A	T			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chrX:152128349A>T	ENST00000370268.4	+	17	1550	c.1513A>T	c.(1513-1515)Act>Tct	p.T505S	ZNF185_ENST00000324823.6_Missense_Mutation_p.T273S|ZNF185_ENST00000535861.1_Missense_Mutation_p.T537S|ZNF185_ENST00000449285.2_Missense_Mutation_p.T506S|ZNF185_ENST00000454925.1_Missense_Mutation_p.T143S|ZNF185_ENST00000318504.7_Missense_Mutation_p.T446S|ZNF185_ENST00000318529.8_Missense_Mutation_p.T284S|ZNF185_ENST00000539731.1_Missense_Mutation_p.T508S|ZNF185_ENST00000370270.2_Missense_Mutation_p.T537S			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	505						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.T268S(1)|p.T537S(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					AGCTGTACCCACTCAGCAACC	0.607																																						uc010ntv.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(1513-1515)ACT>TCT		zinc finger protein 185							53.0	58.0	56.0					X																	152128349		2038	4169	6207	SO:0001583	missense	7739					cytoplasm|cytoskeleton|focal adhesion	zinc ion binding	g.chrX:152128349A>T	AK056517	CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1	Xq28	2012-08-08			ENSG00000147394	ENSG00000147394		"""Zinc fingers, C2H2-type"""	12976	protein-coding gene	gene with protein product		300381				9268636	Standard	NM_001178106		Approved		uc011myg.2	O15231	OTTHUMG00000024187	ENST00000370268.4:c.1513A>T	X.37:g.152128349A>T	ENSP00000359291:p.Thr505Ser					ZNF185_uc011myg.1_Missense_Mutation_p.T537S|ZNF185_uc011myh.1_Missense_Mutation_p.T508S|ZNF185_uc011myi.1_Missense_Mutation_p.T476S|ZNF185_uc011myj.1_Missense_Mutation_p.T446S|ZNF185_uc011myk.1_Missense_Mutation_p.T506S|ZNF185_uc004fgw.3_Missense_Mutation_p.T284S|ZNF185_uc004fgu.2_Missense_Mutation_p.T134S|ZNF185_uc004fgv.2_Missense_Mutation_p.T202S|ZNF185_uc004fgx.2_Missense_Mutation_p.T143S	p.T505S	NM_007150	NP_009081	O15231	ZN185_HUMAN			17	1550	+	Acute lymphoblastic leukemia(192;6.56e-05)		505					A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	Missense_Mutation	SNP	ENST00000370268.4	37	c.1513A>T	CCDS48184.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	5.373|5.373	0.254132|0.254132	0.10185|0.10185	.|.	.|.	ENSG00000147394|ENSG00000147394	ENST00000433245;ENST00000426821|ENST00000535861;ENST00000539731;ENST00000449285;ENST00000318504;ENST00000535156;ENST00000324823;ENST00000370268;ENST00000318529;ENST00000370270;ENST00000436731	.|T;T;T;T;T	.|0.42513	.|0.97;0.97;0.97;0.98;0.97	3.99|3.99	-4.61|-4.61	0.03380|0.03380	.|.	.|1.509710	.|0.04254	.|N	.|0.339177	T|T	0.20577|0.20577	0.0495|0.0495	N|N	0.11106|0.11106	0.095|0.095	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B;B;B;B;B	.|0.20052	.|0.007;0.003;0.003;0.01;0.022;0.007;0.035;0.041;0.004	.|B;B;B;B;B;B;B;B;B	.|0.18561	.|0.004;0.003;0.001;0.004;0.007;0.007;0.022;0.016;0.012	T|T	0.11616|0.11616	-1.0580|-1.0580	5|10	.|0.30854	.|T	.|0.27	-0.0187|-0.0187	4.7013|4.7013	0.12828|0.12828	0.2115:0.0:0.4642:0.3243|0.2115:0.0:0.4642:0.3243	.|.	.|506;446;476;508;537;505;143;284;268	.|O15231-3;B8K2L9;B8K2M0;F5GZL4;F5GXF7;O15231;Q8N1R8;F8W8V7;O15231-2	.|.;.;.;.;.;ZN185_HUMAN;.;.;.	L|S	363;290|537;508;506;446;340;273;505;284;268;210	.|ENSP00000440847:T537S;ENSP00000444367:T508S;ENSP00000395228:T506S;ENSP00000312782:T446S;ENSP00000359291:T505S	.|ENSP00000312782:T446S	H|T	+|+	2|1	0|0	ZNF185|ZNF185	151879005|151879005	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.237000|0.237000	0.25408|0.25408	-0.527000|-0.527000	0.06200|0.06200	-1.082000|-1.082000	0.03101|0.03101	0.430000|0.430000	0.28490|0.28490	CAC|ACT		PASS	0.607	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377480.1	NM_007150		9	51	9	51	---	---	---	---
KIAA0196	9897	broad.mit.edu	37	8	126049491	126049494	+	Frame_Shift_Del	DEL	TGTA	TGTA	-			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr8:126049491_126049494delTGTA	ENST00000318410.7	-	26	3515_3518	c.3166_3169delTACA	c.(3166-3171)tacaacfs	p.YN1056fs	KIAA0196_ENST00000517845.1_Frame_Shift_Del_p.YN908fs	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	1056					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			AGATTTTTGTTGTATTGAAGTTTT	0.304																																						uc003yrt.2																			0				ovary(2)	2						c.(3166-3171)TACAACfs		strumpellin																																				SO:0001589	frameshift_variant	9897				cell death	WASH complex		g.chr8:126049491_126049494delTGTA		CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"""strumpellin"""	610657	"""spastic paraplegia 8 (autosomal dominant)"""	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.3166_3169delTACA	8.37:g.126049491_126049494delTGTA	ENSP00000318016:p.Tyr1056fs					KIAA0196_uc011lir.1_Frame_Shift_Del_p.Y908fs|KIAA0196_uc003yru.1_Frame_Shift_Del_p.Y630fs	p.Y1056fs	NM_014846	NP_055661	Q12768	STRUM_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		26	3495_3498	-	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		1056_1057					A8K4R7|Q3KQX5|Q8TBQ2	Frame_Shift_Del	DEL	ENST00000318410.7	37	c.3166_3169delTACA	CCDS6355.1																																																																																					0.304	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381369.1	NM_014846		81	39	81	39	---	---	---	---
IGSF9B	22997	broad.mit.edu	37	11	133801456	133801456	+	Frame_Shift_Del	DEL	G	G	-	rs182620767		TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chr11:133801456delG	ENST00000321016.8	-	10	1490	c.1260delC	c.(1258-1260)cccfs	p.P420fs	IGSF9B_ENST00000533871.2_Frame_Shift_Del_p.P420fs			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	420	Ig-like 5.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CCGTGAAATAGGGGGGGTCCT	0.652																																						uc001qgx.3																			0					0						c.(1258-1260)CCCfs		immunoglobulin superfamily, member 9B							30.0	36.0	34.0					11																	133801456		1933	4114	6047	SO:0001589	frameshift_variant	22997					integral to membrane|plasma membrane		g.chr11:133801456delG	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.1260delC	11.37:g.133801456delG	ENSP00000317980:p.Pro420fs					IGSF9B_uc001qgy.1_Frame_Shift_Del_p.P262fs	p.P420fs	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	10	1491	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	420			Extracellular (Potential).|Ig-like 5.		G5EA26	Frame_Shift_Del	DEL	ENST00000321016.8	37	c.1260delC																																																																																						0.652	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		24	18	24	18	---	---	---	---
MAGEE2	139599	broad.mit.edu	37	X	75003354	75003354	+	Frame_Shift_Del	DEL	T	T	-			TCGA-43-6770-01A-11D-1817-08	TCGA-43-6770-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	404ca8c2-f1bb-4749-8abd-87f491a8111c	c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61	g.chrX:75003354delT	ENST00000373359.2	-	1	1725	c.1533delA	c.(1531-1533)aaafs	p.K511fs		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	511										autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTGCCTCAGATTTGGCTCTGG	0.463																																						uc004ecj.1																			0				ovary(1)|skin(1)	2						c.(1531-1533)AAAfs		melanoma antigen family E, 2							96.0	70.0	79.0					X																	75003354		2203	4300	6503	SO:0001589	frameshift_variant	139599							g.chrX:75003354delT	AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.1533delA	X.37:g.75003354delT	ENSP00000362457:p.Lys511fs						p.K511fs	NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN			1	1718	-			511					Q5JSI5	Frame_Shift_Del	DEL	ENST00000373359.2	37	c.1533delA	CCDS14431.1																																																																																					0.463	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057288.1	NM_138703		124	72	124	72	---	---	---	---
