#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_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	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CDC20	991	broad.mit.edu	37	1	43825057	43825057	+	Silent	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr1:43825057C>T	ENST00000372462.1	+	1	374	c.171C>T	c.(169-171)ggC>ggT	p.G57G	CDC20_ENST00000310955.6_Silent_p.G57G|RP1-92O14.3_ENST00000424948.1_RNA			Q12834	CDC20_HUMAN	cell division cycle 20	57					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle (GO:0007049)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein ubiquitination (GO:0016567)|regulation of dendrite development (GO:0050773)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|spindle (GO:0005819)	enzyme binding (GO:0019899)|protein C-terminus binding (GO:0008022)			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGACTCCGGGCCGAACTCCTG	0.662																																					Esophageal Squamous(137;1154 1759 10362 10401 46925)	uc001cix.2		NA																	0					0						c.(169-171)GGC>GGT		cell division cycle 20							25.0	30.0	28.0					1																	43825057		2203	4300	6503	SO:0001819	synonymous_variant	991				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding	g.chr1:43825057C>T	U05340	CCDS484.1	1p34.1	2013-01-17	2013-01-17		ENSG00000117399	ENSG00000117399		"""WD repeat domain containing"""	1723	protein-coding gene	gene with protein product		603618	"""CDC20 (cell division cycle 20, S. cerevisiae, homolog)"", ""CDC20 cell division cycle 20 homolog (S. cerevisiae)"", ""cell division cycle 20 homolog (S. cerevisiae)"""			7513050, 9353311	Standard	NM_001255		Approved	p55CDC, CDC20A	uc001cix.3	Q12834	OTTHUMG00000007420	ENST00000372462.1:c.171C>T	1.37:g.43825057C>T						CDC20_uc001ciy.2_Silent_p.G57G	p.G57G	NM_001255	NP_001246	Q12834	CDC20_HUMAN			2	272	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	57					B2R6Z6|D3DPJ1|Q5JUY4|Q9BW56|Q9UQI9	Silent	SNP	ENST00000372462.1	37	c.171C>T	CCDS484.1																																																																																				0.662	CDC20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019488.1	NM_001255		20	10	0	0	0	0	20	10				
RAD54L	8438	broad.mit.edu	37	1	46739822	46739822	+	Silent	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr1:46739822C>T	ENST00000371975.4	+	15	2297	c.1623C>T	c.(1621-1623)gtC>gtT	p.V541V	RAD54L_ENST00000442598.1_Silent_p.V541V	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	541	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		ACTTATACGTCCGCCTGGATG	0.423								Direct reversal of damage;Homologous recombination																														uc009vye.2		NA																	0				ovary(2)|skin(1)	3						c.(1621-1623)GTC>GTT	Direct_reversal_of_damage|Homologous_recombination	RAD54-like protein							98.0	92.0	94.0					1																	46739822		2203	4300	6503	SO:0001819	synonymous_variant	8438				meiosis	nucleus	ATP binding|DNA binding|helicase activity	g.chr1:46739822C>T	X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"""RAD54 (S.cerevisiae)-like"""			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.1623C>T	1.37:g.46739822C>T						RAD54L_uc001cpl.2_Silent_p.V541V|RAD54L_uc001cpm.1_Silent_p.V324V	p.V541V	NM_001142548	NP_001136020	Q92698	RAD54_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)	16	1737	+	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)	541			Helicase C-terminal.		Q5TE31|Q6IUY3	Silent	SNP	ENST00000371975.4	37	c.1623C>T	CCDS532.1																																																																																				0.423	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	NM_003579		12	15	0	0	0	0	12	15				
CYP4Z1	199974	broad.mit.edu	37	1	47583599	47583599	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr1:47583599T>C	ENST00000334194.3	+	12	1514	c.1511T>C	c.(1510-1512)gTt>gCt	p.V504A	CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4Z1_ENST00000471598.1_3'UTR	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	504						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						GCAAAAAAAGTTTGCTAATTT	0.378																																						uc001cqu.1		NA																	0				skin(1)	1						c.(1510-1512)GTT>GCT		cytochrome P450 4Z1							51.0	46.0	47.0					1																	47583599		2203	4300	6503	SO:0001583	missense	199974					endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr1:47583599T>C	AY262056	CCDS545.1	1p33	2008-02-05			ENSG00000186160	ENSG00000186160		"""Cytochrome P450s"""	20583	protein-coding gene	gene with protein product						15059886	Standard	NM_178134		Approved	CYP4A20	uc001cqu.1	Q86W10	OTTHUMG00000008019	ENST00000334194.3:c.1511T>C	1.37:g.47583599T>C	ENSP00000334246:p.Val504Ala						p.V504A	NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN			12	1514	+			504			Lumenal (Potential).		Q5VVE4	Missense_Mutation	SNP	ENST00000334194.3	37	c.1511T>C	CCDS545.1	.	.	.	.	.	.	.	.	.	.	t	10.99	1.506746	0.26949	.	.	ENSG00000186160	ENST00000334194	T	0.70164	-0.46	1.23	1.23	0.21249	.	0.762462	0.11015	U	0.609023	T	0.41673	0.1169	N	0.08118	0	0.09310	N	1	B	0.26147	0.143	B	0.24394	0.053	T	0.35968	-0.9767	10	0.87932	D	0	.	4.2818	0.10836	0.0:0.1985:0.0:0.8015	.	504	Q86W10	CP4Z1_HUMAN	A	504	ENSP00000334246:V504A	ENSP00000334246:V504A	V	+	2	0	CYP4Z1	47356186	0.036000	0.19791	0.003000	0.11579	0.487000	0.33371	2.564000	0.45931	0.847000	0.35167	0.225000	0.17782	GTT		0.378	CYP4Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022020.1	NM_178134		13	12	0	0	0	0	13	12				
ERICH3	127254	broad.mit.edu	37	1	75072415	75072415	+	Silent	SNP	T	T	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr1:75072415T>A	ENST00000326665.5	-	10	1577	c.1359A>T	c.(1357-1359)tcA>tcT	p.S453S	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Silent_p.S256S	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		453	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						AAAATTTGGCTGAAACAGAGG	0.413																																						uc001dgg.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(1357-1359)TCA>TCT		hypothetical protein LOC127254							173.0	174.0	174.0					1																	75072415		2202	4299	6501	SO:0001819	synonymous_variant	127254							g.chr1:75072415T>A																												ENST00000326665.5:c.1359A>T	1.37:g.75072415T>A						uc001dgh.2_Intron|C1orf173_uc001dgi.3_Silent_p.S247S	p.S453S	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			10	1578	-			453			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Silent	SNP	ENST00000326665.5	37	c.1359A>T	CCDS30755.1																																																																																				0.413	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			93	48	0	0	0	0	93	48				
CLCA4	22802	broad.mit.edu	37	1	87043754	87043754	+	Splice_Site	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr1:87043754C>T	ENST00000370563.3	+	12	2163	c.2121C>T	c.(2119-2121)aaC>aaT	p.N707N	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	707					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		GGGTAGTGAACGGTGAGTAAC	0.388																																						uc009wcs.2		NA																	0				ovary(2)	2						c.(2119-2121)AAC>AAT		chloride channel accessory 4							40.0	39.0	40.0					1																	87043754		1876	4103	5979	SO:0001630	splice_region_variant	22802					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:87043754C>T	AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"""chloride channel, calcium activated, family member 4"", ""chloride channel regulator 4"""			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.2122+1C>T	1.37:g.87043754C>T						CLCA4_uc009wct.2_Silent_p.N470N|CLCA4_uc009wcu.2_Silent_p.N527N	p.N707N	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN		all cancers(265;0.0202)|Epithelial(280;0.0404)	12	2165	+		Lung NSC(277;0.238)	707					A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Silent	SNP	ENST00000370563.3	37	c.2121C>T	CCDS41355.1																																																																																				0.388	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	NM_012128	Silent	3	7	0	0	0	0	3	7				
DPYD	1806	broad.mit.edu	37	1	98164954	98164954	+	Silent	SNP	G	G	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr1:98164954G>A	ENST00000370192.3	-	6	733	c.633C>T	c.(631-633)taC>taT	p.Y211Y	DPYD_ENST00000474241.1_5'UTR|DPYD_ENST00000423006.2_3'UTR	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	211					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	TGATGTCAGAGTACCCCAATC	0.383																																						uc001drv.2		NA																	0				ovary(3)|skin(3)|breast(2)	8						c.(631-633)TAC>TAT		dihydropyrimidine dehydrogenase isoform 1	Capecitabine(DB01101)|Enfuvirtide(DB00109)						142.0	140.0	141.0					1																	98164954		2203	4300	6503	SO:0001819	synonymous_variant	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:98164954G>A	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.633C>T	1.37:g.98164954G>A						DPYD_uc010oub.1_RNA	p.Y211Y	NM_000110	NP_000101	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	6	770	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	211					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Silent	SNP	ENST00000370192.3	37	c.633C>T	CCDS30777.1																																																																																				0.383	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		72	40	0	0	0	0	72	40				
S1PR1	1901	broad.mit.edu	37	1	101705292	101705292	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr1:101705292C>T	ENST00000305352.6	+	2	1127	c.752C>T	c.(751-753)tCg>tTg	p.S251L		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	251				KSL -> NV (in Ref. 1; AAA52336 and 2; AAC51905). {ECO:0000305}.	actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036)			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						TCTGAGAAGTCGCTGGCGCTG	0.582																																						uc001dud.2		NA																	0				ovary(2)|lung(1)	3						c.(751-753)TCG>TTG		sphingosine-1-phosphate receptor 1							73.0	74.0	74.0					1																	101705292		2203	4300	6503	SO:0001583	missense	1901				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	g.chr1:101705292C>T	M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"", ""CD molecules"""	3165	protein-coding gene	gene with protein product		601974	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 1"""	EDG1		2160972, 9488656	Standard	NM_001400		Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	ENST00000305352.6:c.752C>T	1.37:g.101705292C>T	ENSP00000305416:p.Ser251Leu					S1PR1_uc009weg.2_Missense_Mutation_p.S251L	p.S251L	NM_001400	NP_001391	P21453	S1PR1_HUMAN			2	1266	+			251	KSL -> NV (in Ref. 1; AAA52336 and 2; AAC51905).		Cytoplasmic (By similarity).		D3DT66|Q9BYY4|Q9NYN8	Missense_Mutation	SNP	ENST00000305352.6	37	c.752C>T	CCDS777.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.967001	0.92855	.	.	ENSG00000170989	ENST00000305352;ENST00000424264	T	0.72615	-0.67	5.22	5.22	0.72569	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.80460	0.4627	M	0.80028	2.48	0.80722	D	1	D	0.61697	0.99	P	0.58780	0.845	D	0.83617	0.0137	10	0.87932	D	0	.	18.848	0.92215	0.0:1.0:0.0:0.0	.	251	P21453	S1PR1_HUMAN	L	251	ENSP00000305416:S251L	ENSP00000305416:S251L	S	+	2	0	S1PR1	101477880	1.000000	0.71417	0.969000	0.41365	0.992000	0.81027	5.968000	0.70413	2.438000	0.82558	0.449000	0.29647	TCG		0.582	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029908.1	NM_001400		51	49	0	0	0	0	51	49				
HRNR	388697	broad.mit.edu	37	1	152187703	152187703	+	Silent	SNP	T	T	C			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr1:152187703T>C	ENST00000368801.2	-	3	6477	c.6402A>G	c.(6400-6402)ggA>ggG	p.G2134G	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2134					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCCGTGTTGTCCGTAGCCAG	0.567																																						uc001ezt.1		NA																	0				skin(2)|ovary(1)	3						c.(6400-6402)GGA>GGG		hornerin							56.0	58.0	58.0					1																	152187703		1610	3279	4889	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152187703T>C	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6402A>G	1.37:g.152187703T>C							p.G2134G	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6478	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2134					Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.6402A>G	CCDS30859.1																																																																																				0.567	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		22	631	0	0	0	0	22	631				
KIRREL	55243	broad.mit.edu	37	1	158064599	158064599	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr1:158064599C>T	ENST00000359209.6	+	15	2030	c.1963C>T	c.(1963-1965)Cgg>Tgg	p.R655W	KIRREL_ENST00000392272.2_Missense_Mutation_p.R552W|KIRREL_ENST00000368172.1_Missense_Mutation_p.R469W|KIRREL_ENST00000360089.4_Missense_Mutation_p.R491W|KIRREL_ENST00000368173.3_Missense_Mutation_p.R671W|KIRREL_ENST00000416935.2_Missense_Mutation_p.R555W			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	655					excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CACCTATAGCCGGGGCCCTGC	0.657																																						uc001frn.3		NA																	0				ovary(1)	1						c.(1963-1965)CGG>TGG		kin of IRRE like precursor							45.0	48.0	47.0					1																	158064599		2203	4300	6503	SO:0001583	missense	55243					integral to membrane		g.chr1:158064599C>T	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.1963C>T	1.37:g.158064599C>T	ENSP00000352138:p.Arg655Trp					KIRREL_uc010pib.1_Missense_Mutation_p.R555W|KIRREL_uc009wsq.2_Missense_Mutation_p.R491W|KIRREL_uc001fro.3_Missense_Mutation_p.R469W|uc001frp.2_5'Flank	p.R655W	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN			15	2367	+	all_hematologic(112;0.0378)		655			Cytoplasmic (Potential).		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Missense_Mutation	SNP	ENST00000359209.6	37	c.1963C>T	CCDS1172.2	.	.	.	.	.	.	.	.	.	.	C	20.7	4.027393	0.75390	.	.	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	T;T;T;T;T;T	0.77358	-0.12;-1.09;-0.46;-0.73;-0.63;-0.26	5.04	4.12	0.48240	.	0.000000	0.39274	N	0.001408	T	0.79149	0.4397	L	0.46157	1.445	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.82168	-0.0591	10	0.87932	D	0	-25.0189	12.5568	0.56258	0.1678:0.8322:0.0:0.0	.	555;491;469;655	B4DN67;Q5W0F9;Q5W0G0;Q96J84	.;.;.;KIRR1_HUMAN	W	491;671;552;655;555;469	ENSP00000353202:R491W;ENSP00000357155:R671W;ENSP00000376098:R552W;ENSP00000352138:R655W;ENSP00000389674:R555W;ENSP00000357154:R469W	ENSP00000352138:R655W	R	+	1	2	KIRREL	156331223	1.000000	0.71417	0.999000	0.59377	0.944000	0.59088	4.235000	0.58666	1.085000	0.41206	-0.314000	0.08810	CGG		0.657	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240		13	29	0	0	0	0	13	29				
ALDH9A1	223	broad.mit.edu	37	1	165667675	165667675	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr1:165667675C>T	ENST00000354775.4	-	1	425	c.121G>A	c.(121-123)Ggg>Agg	p.G41R	ALDH9A1_ENST00000461664.1_5'UTR|RP11-466F5.6_ENST00000400982.2_RNA|ALDH9A1_ENST00000538148.1_5'Flank	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9 family, member A1	17					carnitine biosynthetic process (GO:0045329)|cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|hormone metabolic process (GO:0042445)|kidney development (GO:0001822)|liver development (GO:0001889)|neurotransmitter biosynthetic process (GO:0042136)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	1-pyrroline dehydrogenase activity (GO:0033737)|3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|4-trimethylammoniobutyraldehyde dehydrogenase activity (GO:0047105)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|amine binding (GO:0043176)|aminobutyraldehyde dehydrogenase activity (GO:0019145)|NAD binding (GO:0051287)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					ACGCGGGCCCCGCCGCGGTAA	0.706																																					Ovarian(179;1583 2014 18106 33801 42447)	uc001gdh.1		NA																	0					0						c.(121-123)GGG>AGG		aldehyde dehydrogenase 9A1	NADH(DB00157)						18.0	24.0	22.0					1																	165667675		2164	4256	6420	SO:0001583	missense	223				carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process	cytosol|plasma membrane	3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity	g.chr1:165667675C>T	U34252	CCDS1250.2	1q22-q23	2008-02-05			ENSG00000143149	ENSG00000143149		"""Aldehyde dehydrogenases"""	412	protein-coding gene	gene with protein product		602733		ALDH7, ALDH4, ALDH9		8112751, 8786138	Standard	NM_000696		Approved	E3	uc001gdh.1	P49189	OTTHUMG00000034677	ENST00000354775.4:c.121G>A	1.37:g.165667675C>T	ENSP00000346827:p.Gly41Arg					uc001gdi.2_5'Flank|ALDH9A1_uc010pky.1_5'UTR|ALDH9A1_uc010pkz.1_Missense_Mutation_p.G41R|ALDH9A1_uc010pla.1_5'UTR	p.G41R	NM_000696	NP_000687	P49189	AL9A1_HUMAN			1	226	-	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		17					B2R6X1|B4DXY7|Q5VV90|Q6LCL1|Q9NZT7	Missense_Mutation	SNP	ENST00000354775.4	37	c.121G>A	CCDS1250.2	.	.	.	.	.	.	.	.	.	.	C	28.4	4.917762	0.92249	.	.	ENSG00000143149	ENST00000354775	D	0.95103	-3.61	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	D	0.91476	0.7309	N	0.08118	0	0.54753	D	0.999988	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.983	D	0.94321	0.7553	9	0.87932	D	0	.	13.1121	0.59278	0.0:1.0:0.0:0.0	.	41;41	B4DX14;B9EKV4	.;.	R	41	ENSP00000346827:G41R	ENSP00000346827:G41R	G	-	1	0	ALDH9A1	163934299	0.997000	0.39634	1.000000	0.80357	0.982000	0.71751	2.224000	0.42945	2.122000	0.65172	0.655000	0.94253	GGG		0.706	ALDH9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083899.1			14	24	0	0	0	0	14	24				
FMO3	2328	broad.mit.edu	37	1	171085379	171085379	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr1:171085379G>A	ENST00000367755.4	+	8	1326	c.1215G>A	c.(1213-1215)atG>atA	p.M405I	FMO3_ENST00000538429.1_Missense_Mutation_p.M342I|FMO3_ENST00000392085.2_Missense_Mutation_p.M405I|FMO3_ENST00000542847.1_Missense_Mutation_p.M385I	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	405				PSMEDM -> GPFYGKTL (in Ref. 1; AAA86284). {ECO:0000305}.	drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	TGGAAGACATGATGAATGATA	0.358																																						uc001ghi.2		NA																	0				skin(1)	1	GRCh37	CD085185	FMO3	D		c.(1213-1215)ATG>ATA		flavin containing monooxygenase 3							134.0	136.0	135.0					1																	171085379		2203	4299	6502	SO:0001583	missense	2328				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	g.chr1:171085379G>A	BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.1215G>A	1.37:g.171085379G>A	ENSP00000356729:p.Met405Ile					FMO3_uc001ghh.2_Missense_Mutation_p.M405I|FMO3_uc010pmb.1_Missense_Mutation_p.M385I|FMO3_uc010pmc.1_Missense_Mutation_p.M342I	p.M405I	NM_001002294	NP_001002294	P31513	FMO3_HUMAN			8	1326	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		405	PSMEDM -> GPFYGKTL (in Ref. 1; AAA86284).				B2R816|Q14854|Q8N5N5	Missense_Mutation	SNP	ENST00000367755.4	37	c.1215G>A	CCDS1292.1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.895949	0.52121	.	.	ENSG00000007933	ENST00000367755;ENST00000392085;ENST00000542847;ENST00000538429	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	4.71	4.71	0.59529	.	0.039437	0.85682	D	0.000000	T	0.51618	0.1685	M	0.86953	2.85	0.49213	D	0.999764	B;B;B	0.18310	0.027;0.018;0.012	B;B;B	0.26770	0.022;0.03;0.073	T	0.61302	-0.7090	10	0.72032	D	0.01	-24.6287	16.6783	0.85285	0.0:0.0:1.0:0.0	.	342;385;405	F5H261;F5GZZ8;P31513	.;.;FMO3_HUMAN	I	405;405;385;342	ENSP00000356729:M405I;ENSP00000375935:M405I;ENSP00000444073:M385I;ENSP00000439500:M342I	ENSP00000356729:M405I	M	+	3	0	FMO3	169352003	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	3.688000	0.54699	2.422000	0.82143	0.644000	0.83932	ATG		0.358	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1	NM_006894		31	53	0	0	0	0	31	53				
PAPPA2	60676	broad.mit.edu	37	1	176760576	176760576	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr1:176760576C>A	ENST00000367662.3	+	19	6142	c.4978C>A	c.(4978-4980)Ctg>Atg	p.L1660M		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1660	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.L1660M(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						CCCCTCAGAGCTGAATTCTGT	0.438																																						uc001gkz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(4978-4980)CTG>ATG		pappalysin 2 isoform 1							85.0	85.0	85.0					1																	176760576		1896	4103	5999	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176760576C>A	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.4978C>A	1.37:g.176760576C>A	ENSP00000356634:p.Leu1660Met					PAPPA2_uc009www.2_RNA	p.L1660M	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			19	6142	+			1660			Sushi 5.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.4978C>A	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	C	11.77	1.736265	0.30774	.	.	ENSG00000116183	ENST00000367662	T	0.01787	4.64	5.4	4.49	0.54785	.	0.528674	0.18830	N	0.129983	T	0.01353	0.0044	N	0.08118	0	0.80722	D	1	B	0.25563	0.129	B	0.26614	0.071	T	0.64550	-0.6381	10	0.32370	T	0.25	-1.8932	11.1394	0.48394	0.0:0.9131:0.0:0.0869	.	1660	Q9BXP8	PAPP2_HUMAN	M	1660	ENSP00000356634:L1660M	ENSP00000356634:L1660M	L	+	1	2	PAPPA2	175027199	1.000000	0.71417	0.948000	0.38648	0.837000	0.47467	2.750000	0.47500	1.266000	0.44231	0.655000	0.94253	CTG		0.438	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			25	27	1	0	1.43e-11	1.65e-11	25	27				
USH2A	7399	broad.mit.edu	37	1	215848787	215848787	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr1:215848787C>T	ENST00000307340.3	-	63	12852	c.12466G>A	c.(12466-12468)Gac>Aac	p.D4156N	USH2A_ENST00000366943.2_Missense_Mutation_p.D4156N	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4156					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)			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)		AGCTGAGAGTCTGGAGGGGCT	0.542										HNSCC(13;0.011)																												uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(12466-12468)GAC>AAC		usherin isoform B							48.0	50.0	49.0					1																	215848787		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.chr1:215848787C>T	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.12466G>A	1.37:g.215848787C>T	ENSP00000305941:p.Asp4156Asn	HNSCC(13;0.011)					p.D4156N	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	63	12853	-			4156			Extracellular (Potential).|Fibronectin type-III 27.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.12466G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	8.113	0.779298	0.16120	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	D;T	0.85171	-1.95;0.53	5.25	0.642	0.17765	Fibronectin, type III (3);Immunoglobulin-like fold (1);	1.276180	0.05744	N	0.601860	T	0.80347	0.4606	L	0.48642	1.525	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.61357	-0.7079	10	0.27082	T	0.32	.	9.6987	0.40173	0.0:0.6668:0.139:0.1941	.	4156	O75445	USH2A_HUMAN	N	4156	ENSP00000305941:D4156N;ENSP00000355910:D4156N	ENSP00000305941:D4156N	D	-	1	0	USH2A	213915410	0.000000	0.05858	0.000000	0.03702	0.624000	0.37722	0.130000	0.15850	0.225000	0.20959	0.650000	0.86243	GAC		0.542	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		3	62	0	0	0	0	3	62				
AKT3	10000	broad.mit.edu	37	1	243778440	243778440	+	Silent	SNP	A	A	C			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr1:243778440A>C	ENST00000366539.1	-	7	785	c.585T>G	c.(583-585)acT>acG	p.T195T	AKT3_ENST00000336199.5_Silent_p.T195T|AKT3_ENST00000492957.1_5'UTR|AKT3_ENST00000366540.1_Silent_p.T195T|AKT3_ENST00000263826.5_Silent_p.T195T			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	195	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitochondrial genome maintenance (GO:0000002)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			CTCTGCTTTCAGTTAGAGTGT	0.294																																						uc001iab.1		NA																	0				stomach(1)|lung(1)|breast(1)|central_nervous_system(1)	4						c.(583-585)ACT>ACG		AKT3 kinase isoform 1							128.0	124.0	126.0					1																	243778440		2202	4299	6501	SO:0001819	synonymous_variant	10000				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:243778440A>C	AF124141	CCDS31076.1, CCDS31077.1	1q44	2013-07-09	2013-07-09		ENSG00000117020	ENSG00000117020	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	393	protein-coding gene	gene with protein product	"""protein kinase B, gamma"""	611223				10092583, 10208883	Standard	NM_005465		Approved	PKBG, RAC-gamma, PRKBG	uc001iab.2	Q9Y243	OTTHUMG00000039994	ENST00000366539.1:c.585T>G	1.37:g.243778440A>C						AKT3_uc001hzz.1_Silent_p.T195T	p.T195T	NM_005465	NP_005456	Q9Y243	AKT3_HUMAN	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)		6	666	-	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	195			Protein kinase.		Q0VAA6|Q5VTI1|Q5VTI2|Q96QV3|Q9UFP5	Silent	SNP	ENST00000366539.1	37	c.585T>G	CCDS31077.1																																																																																				0.294	AKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096479.1	NM_181690		19	43	0	0	0	0	19	43				
AHCTF1	25909	broad.mit.edu	37	1	247051786	247051786	+	Silent	SNP	A	A	G			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr1:247051786A>G	ENST00000391829.2	-	18	2301	c.2178T>C	c.(2176-2178)gaT>gaC	p.D726D	AHCTF1_ENST00000366508.1_Silent_p.D761D|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Silent_p.D735D			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	726	Necessary for cytoplasmic localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			AAACCAGTCCATCAATCATCA	0.408																																					Colon(145;197 1800 4745 15099 26333)	uc001ibu.1		NA																	0				ovary(5)|skin(2)	7						c.(2176-2178)GAT>GAC		transcription factor ELYS							79.0	75.0	76.0					1																	247051786		2203	4300	6503	SO:0001819	synonymous_variant	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247051786A>G		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.2178T>C	1.37:g.247051786A>G						AHCTF1_uc001ibv.1_Silent_p.D735D|AHCTF1_uc009xgs.1_5'UTR	p.D726D	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		17	2185	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	726			Necessary for cytoplasmic localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Silent	SNP	ENST00000391829.2	37	c.2178T>C																																																																																					0.408	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		32	26	0	0	0	0	32	26				
DCLRE1C	64421	broad.mit.edu	37	10	14961768	14961768	+	Silent	SNP	C	C	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr10:14961768C>A	ENST00000378278.2	-	13	1162	c.1125G>T	c.(1123-1125)ctG>ctT	p.L375L	DCLRE1C_ENST00000378249.1_Silent_p.L260L|DCLRE1C_ENST00000378255.1_Silent_p.L255L|DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000357717.2_Silent_p.L260L|DCLRE1C_ENST00000378254.1_Silent_p.L255L|DCLRE1C_ENST00000453695.2_Silent_p.L255L|DCLRE1C_ENST00000378242.1_Silent_p.L28L|DCLRE1C_ENST00000396817.2_Silent_p.L255L|DCLRE1C_ENST00000378258.1_Silent_p.L255L|DCLRE1C_ENST00000378289.4_Silent_p.L375L|DCLRE1C_ENST00000378246.2_Silent_p.L260L			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	375					B cell differentiation (GO:0030183)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)|telomere maintenance (GO:0000723)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						TAGCTCTCTTCAGTTTTCCCA	0.458								Non-homologous end-joining																														uc001inn.2		NA																	0				ovary(1)	1						c.(1123-1125)CTG>CTT	Involved_in_tolerance_or_repair_of_DNA_crosslinks|NHEJ	artemis protein isoform a							154.0	147.0	150.0					10																	14961768		2203	4300	6503	SO:0001819	synonymous_variant	64421				DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity	g.chr10:14961768C>A	BC022254	CCDS7105.1, CCDS31149.1, CCDS31150.1	10p13	2014-09-17	2010-06-24		ENSG00000152457	ENSG00000152457			17642	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	605988	"""severe combined immunodeficiency, type a (Athabascan)"", ""DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)"""	SCIDA		11336668, 9443881	Standard	XM_005252558		Approved	ARTEMIS, FLJ11360, SNM1C, A-SCID	uc001inn.3	Q96SD1	OTTHUMG00000017716	ENST00000378278.2:c.1125G>T	10.37:g.14961768C>A						DCLRE1C_uc010qbx.1_Silent_p.L375L|DCLRE1C_uc001ink.2_Silent_p.L28L|DCLRE1C_uc001inl.2_Silent_p.L255L|DCLRE1C_uc009xji.2_Silent_p.L260L|DCLRE1C_uc001inm.2_Silent_p.L255L|DCLRE1C_uc001ino.2_Silent_p.L260L|DCLRE1C_uc009xjh.2_RNA|DCLRE1C_uc001inp.2_Silent_p.L255L|DCLRE1C_uc001inq.2_Silent_p.L255L|DCLRE1C_uc001inr.2_Silent_p.L260L	p.L375L	NM_001033855	NP_001029027	Q96SD1	DCR1C_HUMAN			13	1210	-			375					D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	Silent	SNP	ENST00000378278.2	37	c.1125G>T	CCDS31149.1																																																																																				0.458	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046934.1	NM_022487		38	81	1	0	3.62e-18	4.32e-18	38	81				
GRID1	2894	broad.mit.edu	37	10	87966319	87966319	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr10:87966319C>T	ENST00000327946.7	-	3	407	c.322G>A	c.(322-324)Gcc>Acc	p.A108T		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	108					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						ATGTGCATGGCATCCGTGAGG	0.607										Multiple Myeloma(13;0.14)																												uc001kdl.1		NA																	0				ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10						c.(322-324)GCC>ACC		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						153.0	95.0	114.0					10																	87966319		2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87966319C>T	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.322G>A	10.37:g.87966319C>T	ENSP00000330148:p.Ala108Thr	Multiple Myeloma(13;0.14)				GRID1_uc009xsu.1_RNA	p.A108T	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN			3	423	-			108			Extracellular (Potential).		B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.322G>A	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.199692	0.79015	.	.	ENSG00000182771	ENST00000327946	D	0.82711	-1.64	6.06	6.06	0.98353	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.88280	0.6394	M	0.68952	2.095	0.80722	D	1	D	0.61080	0.989	P	0.54629	0.757	D	0.86899	0.2053	10	0.44086	T	0.13	.	19.609	0.95594	0.0:1.0:0.0:0.0	.	108	Q9ULK0	GRID1_HUMAN	T	108	ENSP00000330148:A108T	ENSP00000330148:A108T	A	-	1	0	GRID1	87956299	1.000000	0.71417	0.970000	0.41538	0.930000	0.56654	5.909000	0.69923	2.882000	0.98803	0.655000	0.94253	GCC		0.607	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		14	30	0	0	0	0	14	30				
C10orf12	26148	broad.mit.edu	37	10	98743204	98743204	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr10:98743204A>G	ENST00000286067.2	+	1	2164	c.2057A>G	c.(2056-2058)aAc>aGc	p.N686S		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	686										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GAGGTAGACAACGAAAACACC	0.502																																						uc001kmv.2		NA																	0				skin(2)	2						c.(2056-2058)AAC>AGC		hypothetical protein LOC26148							78.0	69.0	72.0					10																	98743204		2203	4300	6503	SO:0001583	missense	26148							g.chr10:98743204A>G	BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.2057A>G	10.37:g.98743204A>G	ENSP00000286067:p.Asn686Ser						p.N686S	NM_015652	NP_056467	Q8N655	CJ012_HUMAN		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)	1	2164	+		Colorectal(252;0.172)	686					Q9H945|Q9Y457	Missense_Mutation	SNP	ENST00000286067.2	37	c.2057A>G	CCDS7452.1	.	.	.	.	.	.	.	.	.	.	A	0.004	-2.268559	0.00259	.	.	ENSG00000155640	ENST00000286067;ENST00000539886	T	0.05786	3.39	5.67	-2.43	0.06522	.	1.815580	0.03020	N	0.150632	T	0.01940	0.0061	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32719	-0.9896	10	0.02654	T	1	1.2675	1.2532	0.01986	0.327:0.2901:0.2382:0.1446	.	686	Q8N655	CJ012_HUMAN	S	686;520	ENSP00000286067:N686S	ENSP00000286067:N686S	N	+	2	0	C10orf12	98733194	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.229000	0.09098	-0.745000	0.04772	-0.337000	0.08149	AAC		0.502	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652		19	20	0	0	0	0	19	20				
TACC2	10579	broad.mit.edu	37	10	123954555	123954555	+	Splice_Site	SNP	G	G	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr10:123954555G>A	ENST00000369005.1	+	8	6175	c.5835G>A	c.(5833-5835)agG>agA	p.R1945R	TACC2_ENST00000513429.1_Splice_Site_p.R91R|TACC2_ENST00000334433.3_Splice_Site_p.R1945R|TACC2_ENST00000515273.1_Splice_Site_p.R1949R|TACC2_ENST00000358010.1_Splice_Site_p.R91R|TACC2_ENST00000368999.1_Splice_Site_p.M23I|TACC2_ENST00000493951.1_3'UTR|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000360561.3_Splice_Site_p.M23I|TACC2_ENST00000453444.2_Splice_Site_p.R1949R|TACC2_ENST00000369004.3_Splice_Site_p.M23I|TACC2_ENST00000515603.1_Splice_Site_p.R1900R|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000260733.3_Splice_Site_p.M23I	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1945					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTCTCATCAGGAGTTCCGATT	0.617																																						uc001lfv.2		NA																	0				ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(5833-5835)AGG>AGA		transforming, acidic coiled-coil containing							104.0	108.0	107.0					10																	123954555		2203	4300	6503	SO:0001630	splice_region_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123954555G>A	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.5835-1G>A	10.37:g.123954555G>A						TACC2_uc001lfw.2_Silent_p.R91R|TACC2_uc009xzx.2_Silent_p.R1900R|TACC2_uc010qtv.1_Silent_p.R1949R|TACC2_uc001lfx.2_5'UTR|TACC2_uc001lfy.2_5'UTR|TACC2_uc001lfz.2_Missense_Mutation_p.M23I|TACC2_uc001lga.2_Missense_Mutation_p.M23I|TACC2_uc009xzy.2_Missense_Mutation_p.M23I|TACC2_uc010qtw.1_Silent_p.R40R	p.R1945R	NM_206862	NP_996744	O95359	TACC2_HUMAN			8	6195	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	1945					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	37	c.5835G>A	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	G	8.761	0.923524	0.18056	.	.	ENSG00000138162	ENST00000360561;ENST00000368999;ENST00000369004;ENST00000260733	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	4.64	4.64	0.57946	.	.	.	.	.	T	0.60248	0.2254	.	.	.	0.80722	D	1	P;P;P	0.48294	0.851;0.908;0.908	P;P;P	0.61397	0.775;0.888;0.888	T	0.60934	-0.7164	7	.	.	.	.	14.4271	0.67222	0.0:0.0:1.0:0.0	.	23;23;23	D6RAA5;O95359-6;O95359-1	.;.;.	I	23	ENSP00000353763:M23I;ENSP00000357995:M23I;ENSP00000422815:M23I;ENSP00000260733:M23I	.	M	+	3	0	TACC2	123944545	1.000000	0.71417	1.000000	0.80357	0.128000	0.20619	6.499000	0.73683	2.126000	0.65437	0.561000	0.74099	ATG		0.617	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1		Silent	38	96	0	0	0	0	38	96				
OAT	4942	broad.mit.edu	37	10	126100543	126100543	+	Splice_Site	SNP	T	T	C			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr10:126100543T>C	ENST00000368845.5	-	2	290	c.198A>G	c.(196-198)aaA>aaG	p.K66K	OAT_ENST00000539214.1_Intron	NM_000274.3	NP_000265.1	P04181	OAT_HUMAN	ornithine aminotransferase	66					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-proline biosynthetic process (GO:0055129)|protein hexamerization (GO:0034214)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ornithine-oxo-acid transaminase activity (GO:0004587)|pyridoxal phosphate binding (GO:0030170)			endometrium(2)|large_intestine(1)|lung(2)	5		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)	GAAACGTACCTTTTCCTCTCT	0.363																																						uc001lhp.2		NA																	0					0						c.(196-198)AAA>AAG		ornithine aminotransferase precursor	L-Ornithine(DB00129)|Pyridoxal Phosphate(DB00114)						105.0	101.0	102.0					10																	126100543		2203	4300	6503	SO:0001630	splice_region_variant	4942				cellular amino acid biosynthetic process|visual perception	mitochondrial matrix	ornithine-oxo-acid transaminase activity|protein binding|pyridoxal phosphate binding	g.chr10:126100543T>C	BC016928	CCDS7639.1, CCDS53586.1	10q26	2014-09-17	2010-01-20		ENSG00000065154	ENSG00000065154	2.6.1.13		8091	protein-coding gene	gene with protein product	"""Ornithine aminotransferase"", ""ornithine aminotransferase precursor"", ""gyrate atrophy"""	613349				1682785	Standard	NM_000274		Approved	HOGA	uc001lhp.3	P04181	OTTHUMG00000019213	ENST00000368845.5:c.199+1A>G	10.37:g.126100543T>C						OAT_uc001lhq.2_RNA|OAT_uc001lhr.2_Intron	p.K66K	NM_000274	NP_000265	P04181	OAT_HUMAN			2	305	-		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)	66					D3DRF0|Q16068|Q16069|Q68CS0|Q6IAV9|Q9UD03	Silent	SNP	ENST00000368845.5	37	c.198A>G	CCDS7639.1																																																																																				0.363	OAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050863.1	NM_000274	Silent	3	92	0	0	0	0	3	92				
UBQLN3	50613	broad.mit.edu	37	11	5530480	5530480	+	Silent	SNP	T	T	G			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr11:5530480T>G	ENST00000311659.4	-	2	456	c.309A>C	c.(307-309)ccA>ccC	p.P103P	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	103										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGAGGCAGCTGGGCACTCAT	0.597																																					Ovarian(72;684 1260 12332 41642 52180)	uc001may.1		NA																	0				ovary(3)	3						c.(307-309)CCA>CCC		ubiquilin 3							68.0	65.0	66.0					11																	5530480		2201	4297	6498	SO:0001819	synonymous_variant	50613							g.chr11:5530480T>G	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.309A>C	11.37:g.5530480T>G						HBG2_uc001mak.1_Intron	p.P103P	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	395	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	103					Q9NRE0	Silent	SNP	ENST00000311659.4	37	c.309A>C	CCDS7758.1																																																																																				0.597	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		11	29	0	0	0	0	11	29				
SBF2	81846	broad.mit.edu	37	11	9878164	9878164	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr11:9878164A>T	ENST00000256190.8	-	19	2341	c.2204T>A	c.(2203-2205)cTa>cAa	p.L735Q	RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	735					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)			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)		ATGTTGCACTAGCTCTTGCTG	0.483																																						uc001mib.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(2203-2205)CTA>CAA		SET binding factor 2							254.0	224.0	234.0					11																	9878164		2201	4294	6495	SO:0001583	missense	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:9878164A>T	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.2204T>A	11.37:g.9878164A>T	ENSP00000256190:p.Leu735Gln					SBF2_uc001mif.3_Missense_Mutation_p.L491Q|uc001mig.2_Intron	p.L735Q	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)	19	2342	-			735					Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	ENST00000256190.8	37	c.2204T>A	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	a	25.6	4.655844	0.88056	.	.	ENSG00000133812	ENST00000256190	T	0.60920	0.15	5.29	5.29	0.74685	.	0.472411	0.22298	N	0.061901	T	0.78336	0.4267	M	0.86028	2.79	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.82106	-0.0621	10	0.72032	D	0.01	.	15.5134	0.75802	1.0:0.0:0.0:0.0	.	735	Q86WG5	MTMRD_HUMAN	Q	735	ENSP00000256190:L735Q	ENSP00000256190:L735Q	L	-	2	0	SBF2	9834740	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.284000	0.95882	2.126000	0.65437	0.454000	0.30748	CTA		0.483	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		59	161	0	0	0	0	59	161				
ABCC8	6833	broad.mit.edu	37	11	17496473	17496473	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr11:17496473C>T	ENST00000389817.3	-	2	318	c.250G>A	c.(250-252)Gtc>Atc	p.V84I	ABCC8_ENST00000302539.4_Missense_Mutation_p.V84I			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	84					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	CACACCAGGACGAAGAGCAGC	0.547																																						uc001mnc.2		NA																	0				ovary(1)	1						c.(250-252)GTC>ATC		ATP-binding cassette, sub-family C, member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						212.0	146.0	169.0					11																	17496473		2200	4293	6493	SO:0001583	missense	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17496473C>T	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.250G>A	11.37:g.17496473C>T	ENSP00000374467:p.Val84Ile					ABCC8_uc010rcy.1_Missense_Mutation_p.V84I	p.V84I	NM_000352	NP_000343	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	2	376	-			84			Helical; Name=2; (By similarity).		A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	c.250G>A	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.027136	0.54683	.	.	ENSG00000006071	ENST00000389817;ENST00000302539;ENST00000379493	D;D	0.96334	-3.98;-3.98	5.19	5.19	0.71726	.	0.084624	0.49305	D	0.000142	D	0.94282	0.8163	L	0.53729	1.69	0.53688	D	0.999971	B;B	0.32101	0.167;0.356	B;B	0.23852	0.021;0.049	D	0.93241	0.6626	10	0.42905	T	0.14	.	18.7139	0.91668	0.0:1.0:0.0:0.0	.	84;84	B7Z4N0;Q09428	.;ABCC8_HUMAN	I	84;84;98	ENSP00000374467:V84I;ENSP00000303960:V84I	ENSP00000303960:V84I	V	-	1	0	ABCC8	17453049	0.996000	0.38824	0.994000	0.49952	0.980000	0.70556	3.295000	0.51794	2.414000	0.81942	0.585000	0.79938	GTC		0.547	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		11	20	0	0	0	0	11	20				
ELF5	2001	broad.mit.edu	37	11	34502384	34502384	+	Silent	SNP	T	T	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr11:34502384T>A	ENST00000312319.2	-	6	865	c.636A>T	c.(634-636)gcA>gcT	p.A212A	ELF5_ENST00000528709.1_5'Flank|ELF5_ENST00000257832.2_Silent_p.A202A|ELF5_ENST00000429939.2_Silent_p.A107A	NM_001243081.1|NM_198381.1	NP_001230010.1|NP_938195.1	Q9UKW6	ELF5_HUMAN	E74-like factor 5 (ets domain transcription factor)	212					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|ectoderm development (GO:0007398)|mammary gland epithelial cell differentiation (GO:0060644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 RNA polymerase II transcription factor activity (GO:0000981)			large_intestine(4)|skin(1)	5		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)				CCCACATCTTTGCCAGGGCTT	0.418																																					Melanoma(61;202 1660 4348 21594)	uc001mvo.1		NA																	0				skin(1)	1						c.(634-636)GCA>GCT		E74-like factor 5 ESE-2a							161.0	159.0	160.0					11																	34502384		2202	4298	6500	SO:0001819	synonymous_variant	2001				cell proliferation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:34502384T>A	AF049703	CCDS7892.1, CCDS7893.1, CCDS58129.1, CCDS73273.1	11p13-p12	2008-05-14			ENSG00000135374	ENSG00000135374			3320	protein-coding gene	gene with protein product		605169				9840936	Standard	NM_001422		Approved		uc001mvp.2	Q9UKW6	OTTHUMG00000166451	ENST00000312319.2:c.636A>T	11.37:g.34502384T>A						ELF5_uc001mvp.1_Silent_p.A202A|ELF5_uc009ykd.1_Silent_p.A107A	p.A212A	NM_198381	NP_938195	Q9UKW6	ELF5_HUMAN			6	866	-		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)	212			ETS.		A6XAE6|A8K452|O95175|Q8N2K9|Q96QY3|Q9UKW5	Silent	SNP	ENST00000312319.2	37	c.636A>T	CCDS7892.1																																																																																				0.418	ELF5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389845.1	NM_198381		52	64	0	0	0	0	52	64				
LRRC4C	57689	broad.mit.edu	37	11	40137317	40137317	+	Silent	SNP	G	G	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr11:40137317G>T	ENST00000278198.2	-	2	2489	c.526C>A	c.(526-528)Cga>Aga	p.R176R	LRRC4C_ENST00000528697.1_Silent_p.R176R|LRRC4C_ENST00000530763.1_Silent_p.R176R|LRRC4C_ENST00000527150.1_Silent_p.R176R			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	176					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)				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)				AAGTCTAGTCGGCGCAAAGAA	0.423																																						uc001mxa.1		NA																	0				ovary(4)|skin(3)|central_nervous_system(1)	8						c.(526-528)CGA>AGA		netrin-G1 ligand precursor							92.0	91.0	91.0					11																	40137317		2203	4300	6503	SO:0001819	synonymous_variant	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40137317G>T	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.526C>A	11.37:g.40137317G>T						LRRC4C_uc001mxc.1_Silent_p.R172R|LRRC4C_uc001mxd.1_Silent_p.R172R|LRRC4C_uc001mxb.1_Silent_p.R172R	p.R176R	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN			2	2490	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	176			LRR 5.		A8K0T1|Q7L0N3	Silent	SNP	ENST00000278198.2	37	c.526C>A	CCDS31464.1																																																																																				0.423	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		32	38	1	0	6.01e-18	7.13e-18	32	38				
FOLH1	2346	broad.mit.edu	37	11	49207301	49207301	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr11:49207301G>A	ENST00000256999.2	-	6	1006	c.746C>T	c.(745-747)cCt>cTt	p.P249L	FOLH1_ENST00000356696.3_Missense_Mutation_p.P249L|FOLH1_ENST00000340334.7_Missense_Mutation_p.P234L|FOLH1_ENST00000533034.1_Missense_Mutation_p.P234L|FOLH1_ENST00000343844.4_Intron	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	249					folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	ACCACCTCCAGGAAGATTCCA	0.512																																						uc001ngy.2		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(745-747)CCT>CTT		folate hydrolase 1 isoform 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						49.0	60.0	56.0					11																	49207301		2201	4293	6494	SO:0001583	missense	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49207301G>A	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.746C>T	11.37:g.49207301G>A	ENSP00000256999:p.Pro249Leu					FOLH1_uc001ngz.2_Missense_Mutation_p.P249L|FOLH1_uc009yly.2_Missense_Mutation_p.P234L|FOLH1_uc009ylz.2_Missense_Mutation_p.P234L|FOLH1_uc009yma.2_Intron	p.P249L	NM_004476	NP_004467	Q04609	FOLH1_HUMAN			6	1007	-			249			Extracellular (Probable).		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	ENST00000256999.2	37	c.746C>T	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.167400	0.78339	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000533034;ENST00000389724	T;T;T;T	0.21361	2.01;2.01;2.01;2.01	3.01	3.01	0.34805	Protease-associated domain, PA (1);	0.000000	0.50627	D	0.000104	T	0.54806	0.1881	H	0.94886	3.595	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.996;0.999;1.0;0.998	T	0.68032	-0.5516	10	0.87932	D	0	.	11.8829	0.52586	0.0:0.0:1.0:0.0	.	234;234;249;249	Q04609-9;Q04609-7;Q04609-8;Q04609	.;.;.;FOLH1_HUMAN	L	249;249;234;234;249	ENSP00000256999:P249L;ENSP00000349129:P249L;ENSP00000344131:P234L;ENSP00000431463:P234L	ENSP00000256999:P249L	P	-	2	0	FOLH1	49163877	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	8.721000	0.91446	1.723000	0.51488	0.400000	0.26472	CCT		0.512	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		12	35	0	0	0	0	12	35				
OR4A16	81327	broad.mit.edu	37	11	55111275	55111275	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr11:55111275A>G	ENST00000314721.2	+	1	649	c.599A>G	c.(598-600)aAt>aGt	p.N200S		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	200						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						GTGGTTGCCAATGGTGGAATA	0.423																																						uc010rie.1		NA																	0				large_intestine(2)|pancreas(1)	3						c.(598-600)AAT>AGT		olfactory receptor, family 4, subfamily A,							259.0	231.0	240.0					11																	55111275		2201	4296	6497	SO:0001583	missense	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55111275A>G	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"""GPCR / Class A : Olfactory receptors"""	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.599A>G	11.37:g.55111275A>G	ENSP00000325128:p.Asn200Ser						p.N200S	NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN			1	599	+			200			Helical; Name=5; (Potential).		Q6IFL3	Missense_Mutation	SNP	ENST00000314721.2	37	c.599A>G	CCDS31499.1	.	.	.	.	.	.	.	.	.	.	a	2.123	-0.401039	0.04865	.	.	ENSG00000181961	ENST00000314721	T	0.00115	8.71	2.54	2.54	0.30619	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00210	0.0006	L	0.46741	1.465	0.09310	N	1	P	0.35456	0.502	P	0.47075	0.536	T	0.25572	-1.0128	9	0.62326	D	0.03	.	4.3152	0.10990	0.8334:0.0:0.1666:0.0	.	200	Q8NH70	O4A16_HUMAN	S	200	ENSP00000325128:N200S	ENSP00000325128:N200S	N	+	2	0	OR4A16	54867851	0.000000	0.05858	0.859000	0.33776	0.051000	0.14879	0.333000	0.19768	1.167000	0.42706	0.346000	0.21813	AAT		0.423	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		58	60	0	0	0	0	58	60				
CCDC88B	283234	broad.mit.edu	37	11	64116884	64116884	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr11:64116884C>T	ENST00000356786.5	+	15	2742	c.2698C>T	c.(2698-2700)Ctc>Ttc	p.L900F	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000359902.2_Missense_Mutation_p.L52F	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	900						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCAGGCGGCTCTCGAGCGCCA	0.637																																						uc001nzy.2		NA																	0				ovary(3)|skin(1)	4						c.(2698-2700)CTC>TTC		coiled-coil domain containing 88							23.0	27.0	26.0					11																	64116884		2201	4297	6498	SO:0001583	missense	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64116884C>T	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.2698C>T	11.37:g.64116884C>T	ENSP00000349238:p.Leu900Phe					CCDC88B_uc009ypo.1_Missense_Mutation_p.L897F|CCDC88B_uc001nzz.1_Missense_Mutation_p.L549F|CCDC88B_uc001oaa.2_Missense_Mutation_p.L52F	p.L900F	NM_032251	NP_115627	A6NC98	CC88B_HUMAN			15	2742	+			900			Potential.		A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	ENST00000356786.5	37	c.2698C>T	CCDS8072.2	.	.	.	.	.	.	.	.	.	.	c	11.84	1.758756	0.31137	.	.	ENSG00000168071	ENST00000377638;ENST00000356786;ENST00000359902	T;T	0.54071	1.68;0.59	3.68	-0.363	0.12556	.	.	.	.	.	T	0.59797	0.2220	L	0.61218	1.895	0.20764	N	0.999852	P;D;D;P	0.69078	0.641;0.972;0.997;0.641	B;P;P;B	0.62184	0.202;0.693;0.899;0.202	T	0.48969	-0.8987	9	0.51188	T	0.08	.	4.8745	0.13650	0.0:0.4533:0.3763:0.1705	.	900;36;549;900	B2RTU8;A6NC98-5;A6NC98-3;A6NC98	.;.;.;CC88B_HUMAN	F	900;900;52	ENSP00000349238:L900F;ENSP00000352974:L52F	ENSP00000349238:L900F	L	+	1	0	CCDC88B	63873460	0.012000	0.17670	0.068000	0.19968	0.157000	0.22087	1.309000	0.33539	-0.159000	0.11021	-0.343000	0.07986	CTC		0.637	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		4	23	0	0	0	0	4	23				
SPTBN2	6712	broad.mit.edu	37	11	66466927	66466927	+	Silent	SNP	G	G	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr11:66466927G>T	ENST00000533211.1	-	18	4057	c.3726C>A	c.(3724-3726)ggC>ggA	p.G1242G	SPTBN2_ENST00000529997.1_Silent_p.G1242G|SPTBN2_ENST00000309996.2_Silent_p.G1242G			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1242					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CGTGGATGTTGCCTTCAGATA	0.557																																						uc001ojd.2		NA																	0				large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(3724-3726)GGC>GGA		spectrin, beta, non-erythrocytic 2							95.0	90.0	91.0					11																	66466927		2200	4295	6495	SO:0001819	synonymous_variant	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66466927G>T	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.3726C>A	11.37:g.66466927G>T							p.G1242G	NM_006946	NP_008877	O15020	SPTN2_HUMAN			17	3798	-			1242			Spectrin 9.		O14872|O14873	Silent	SNP	ENST00000533211.1	37	c.3726C>A	CCDS8150.1																																																																																				0.557	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		23	50	1	0	3.08e-08	3.47e-08	23	50				
ME3	10873	broad.mit.edu	37	11	86198421	86198421	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr11:86198421T>G	ENST00000393324.3	-	6	1020	c.767A>C	c.(766-768)tAc>tCc	p.Y256S	ME3_ENST00000525957.1_5'UTR|ME3_ENST00000543262.1_Missense_Mutation_p.Y256S|ME3_ENST00000323418.6_Missense_Mutation_p.Y194S|ME3_ENST00000359636.2_Missense_Mutation_p.Y256S|RP11-317J19.1_ENST00000524610.1_RNA	NM_001014811.1	NP_001014811.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	256					aerobic respiration (GO:0009060)|malate metabolic process (GO:0006108)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|pyruvate metabolic process (GO:0006090)	mitochondrion (GO:0005739)	cofactor binding (GO:0048037)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)				CAAGTCATCGTATGCCTTCCC	0.527																																						uc001pbz.2		NA																	0				ovary(1)	1						c.(766-768)TAC>TCC		mitochondrial malic enzyme 3 precursor	NADH(DB00157)						141.0	113.0	123.0					11																	86198421		2202	4299	6501	SO:0001583	missense	10873				aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding	g.chr11:86198421T>G	X79440	CCDS8277.1	11q14.2	2012-09-20			ENSG00000151376	ENSG00000151376	1.1.1.40		6985	protein-coding gene	gene with protein product		604626				7818469	Standard	NM_001161586		Approved		uc001pbz.3	Q16798	OTTHUMG00000167217	ENST00000393324.3:c.767A>C	11.37:g.86198421T>G	ENSP00000376998:p.Tyr256Ser					ME3_uc001pca.2_Missense_Mutation_p.Y256S|ME3_uc009yvk.2_Missense_Mutation_p.Y256S|ME3_uc010rtr.1_RNA	p.Y256S	NM_001014811	NP_001014811	Q16798	MAON_HUMAN			6	1021	-		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)	256					B7Z6V0|Q8TBJ0	Missense_Mutation	SNP	ENST00000393324.3	37	c.767A>C	CCDS8277.1	.	.	.	.	.	.	.	.	.	.	T	18.77	3.695251	0.68386	.	.	ENSG00000151376	ENST00000359636;ENST00000543262;ENST00000393324;ENST00000524826;ENST00000545395;ENST00000323418	T;T;T;T;T	0.57907	0.37;0.37;0.37;0.37;0.37	5.44	5.44	0.79542	Malic enzyme, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.82499	0.5050	H	0.97983	4.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88990	0.3414	9	.	.	.	.	14.4883	0.67631	0.0:0.0:0.0:1.0	.	256	Q16798	MAON_HUMAN	S	256;256;256;256;194;194	ENSP00000352657:Y256S;ENSP00000440246:Y256S;ENSP00000376998:Y256S;ENSP00000431182:Y256S;ENSP00000315255:Y194S	.	Y	-	2	0	ME3	85876069	1.000000	0.71417	0.257000	0.24404	0.463000	0.32649	5.172000	0.65003	2.054000	0.61138	0.533000	0.62120	TAC		0.527	ME3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393767.2			11	39	0	0	0	0	11	39				
FAT3	120114	broad.mit.edu	37	11	92087366	92087366	+	Silent	SNP	A	A	G			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr11:92087366A>G	ENST00000298047.6	+	1	2105	c.2088A>G	c.(2086-2088)ctA>ctG	p.L696L	FAT3_ENST00000541502.1_Silent_p.L696L|FAT3_ENST00000525166.1_Silent_p.L546L|FAT3_ENST00000409404.2_Silent_p.L696L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	696					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)			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)				CAGAGAAACTACTCATTAAGG	0.388										TCGA Ovarian(4;0.039)																												uc001pdj.3		NA																	0				ovary(4)|pancreas(1)	5						c.(2086-2088)CTA>CTG		FAT tumor suppressor homolog 3							117.0	119.0	118.0					11																	92087366		1849	4095	5944	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92087366A>G	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.2088A>G	11.37:g.92087366A>G		TCGA Ovarian(4;0.039)					p.L696L	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			1	2105	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	696			Extracellular (Potential).		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.2088A>G																																																																																					0.388	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		19	44	0	0	0	0	19	44				
ATM	472	broad.mit.edu	37	11	108115564	108115564	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr11:108115564A>G	ENST00000452508.2	+	8	901	c.712A>G	c.(712-714)Atc>Gtc	p.I238V	ATM_ENST00000278616.4_Missense_Mutation_p.I238V			Q13315	ATM_HUMAN	ATM serine/threonine kinase	238					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|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)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	AGCTCTTACTATCTTCCTCAA	0.393			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												uc001pkb.1		NA	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	D|Mis|N|F|S	ataxia telangiectasia mutated			"""L, O"""		leukemia|lymphoma|medulloblastoma|glioma	T-PLL		0				haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240						c.(712-714)ATC>GTC	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	ataxia telangiectasia mutated isoform 1							130.0	120.0	123.0					11																	108115564		2200	4298	6498	SO:0001583	missense	472	Ataxia_Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108115564A>G	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.712A>G	11.37:g.108115564A>G	ENSP00000388058:p.Ile238Val	TSP Lung(14;0.12)				ATM_uc009yxr.1_Missense_Mutation_p.I238V	p.I238V	NM_000051	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	7	1097	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|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)	238					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.712A>G	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	A	7.678	0.688343	0.14973	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.01821	4.62;4.87;4.87	5.53	3.18	0.36537	.	0.249894	0.40818	N	0.001011	T	0.01454	0.0047	L	0.34521	1.04	0.27025	N	0.964373	B	0.09022	0.002	B	0.06405	0.002	T	0.47736	-0.9094	10	0.15066	T	0.55	.	5.1123	0.14815	0.6429:0.144:0.2131:0.0	.	238	Q13315	ATM_HUMAN	V	238	ENSP00000435747:I238V;ENSP00000278616:I238V;ENSP00000388058:I238V	ENSP00000278616:I238V	I	+	1	0	ATM	107620774	1.000000	0.71417	0.537000	0.28052	0.953000	0.61014	1.770000	0.38532	0.475000	0.27415	0.528000	0.53228	ATC		0.393	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		28	65	0	0	0	0	28	65				
ATM	472	broad.mit.edu	37	11	108143284	108143284	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr11:108143284A>G	ENST00000452508.2	+	22	3292	c.3103A>G	c.(3103-3105)Ata>Gta	p.I1035V	ATM_ENST00000278616.4_Missense_Mutation_p.I1035V			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1035					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|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)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GAGGAAATATATATTCTCTGT	0.308			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												uc001pkb.1		NA	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	D|Mis|N|F|S	ataxia telangiectasia mutated			"""L, O"""		leukemia|lymphoma|medulloblastoma|glioma	T-PLL		0				haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240						c.(3103-3105)ATA>GTA	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	ataxia telangiectasia mutated isoform 1							100.0	105.0	103.0					11																	108143284		2201	4297	6498	SO:0001583	missense	472	Ataxia_Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108143284A>G	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.3103A>G	11.37:g.108143284A>G	ENSP00000388058:p.Ile1035Val	TSP Lung(14;0.12)				ATM_uc009yxr.1_Missense_Mutation_p.I1035V	p.I1035V	NM_000051	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	21	3488	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|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)	1035					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.3103A>G	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	A	4.935	0.173627	0.09391	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.69435	-0.4;-0.4;-0.4	5.43	0.086	0.14444	Armadillo-type fold (1);	0.592354	0.18243	N	0.147174	T	0.31420	0.0796	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22941	-1.0202	10	0.41790	T	0.15	.	5.8277	0.18562	0.6929:0.0:0.1942:0.1129	.	1035	Q13315	ATM_HUMAN	V	1035	ENSP00000435747:I1035V;ENSP00000278616:I1035V;ENSP00000388058:I1035V	ENSP00000278616:I1035V	I	+	1	0	ATM	107648494	0.168000	0.22989	0.004000	0.12327	0.125000	0.20455	1.454000	0.35178	-0.170000	0.10816	0.533000	0.62120	ATA		0.308	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		10	25	0	0	0	0	10	25				
C11orf53	341032	broad.mit.edu	37	11	111155057	111155057	+	Silent	SNP	G	G	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr11:111155057G>A	ENST00000280325.4	+	3	411	c.264G>A	c.(262-264)ccG>ccA	p.P88P		NM_198498.1	NP_940900.1	Q8IXP5	CK053_HUMAN	chromosome 11 open reading frame 53	88										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		CCCTACCGCCGCTCCTGCCAC	0.662																																						uc001plc.2		NA																	0					0						c.(262-264)CCG>CCA		hypothetical protein LOC341032							18.0	22.0	21.0					11																	111155057		2108	4152	6260	SO:0001819	synonymous_variant	341032							g.chr11:111155057G>A	BC039669	CCDS31674.1	11q23.1	2012-05-31			ENSG00000150750	ENSG00000150750			30527	protein-coding gene	gene with protein product						12477932	Standard	NM_198498		Approved	MGC50104	uc001plc.3	Q8IXP5	OTTHUMG00000166656	ENST00000280325.4:c.264G>A	11.37:g.111155057G>A							p.P88P	NM_198498	NP_940900	Q8IXP5	CK053_HUMAN		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)	3	411	+		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)	88						Silent	SNP	ENST00000280325.4	37	c.264G>A	CCDS31674.1																																																																																				0.662	C11orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390989.1	NM_198498		7	19	0	0	0	0	7	19				
BSX	390259	broad.mit.edu	37	11	122848579	122848579	+	Silent	SNP	G	G	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr11:122848579G>A	ENST00000343035.2	-	3	528	c.480C>T	c.(478-480)aaC>aaT	p.N160N		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	160					eating behavior (GO:0042755)|locomotory behavior (GO:0007626)|mammary gland involution (GO:0060056)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		TCATCCGCCGGTTCTGGAACC	0.527																																						uc010rzs.1		NA																	0					0						c.(478-480)AAC>AAT		brain specific homeobox							56.0	61.0	60.0					11																	122848579		1902	4139	6041	SO:0001819	synonymous_variant	390259							g.chr11:122848579G>A		CCDS41728.1	11q24.1	2011-07-19			ENSG00000188909	ENSG00000188909		"""Homeoboxes / ANTP class : NKL subclass"""	20450	protein-coding gene	gene with protein product		611074					Standard	NM_001098169		Approved	BSX1	uc010rzs.2	Q3C1V8	OTTHUMG00000150247	ENST00000343035.2:c.480C>T	11.37:g.122848579G>A							p.N160N	NM_001098169	NP_001091639	Q3C1V8	BSH_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)	3	480	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	160			Homeobox.			Silent	SNP	ENST00000343035.2	37	c.480C>T	CCDS41728.1																																																																																				0.527	BSX-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317076.1	NM_001098169		17	26	0	0	0	0	17	26				
ITPR2	3709	broad.mit.edu	37	12	26812177	26812177	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr12:26812177A>C	ENST00000381340.3	-	16	2171	c.1755T>G	c.(1753-1755)atT>atG	p.I585M		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	585					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	TATCATAGCCAATCTGGGACT	0.368																																						uc001rhg.2		NA																	0				kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14						c.(1753-1755)ATT>ATG		inositol 1,4,5-triphosphate receptor, type 2							170.0	144.0	152.0					12																	26812177		1855	4112	5967	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26812177A>C	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.1755T>G	12.37:g.26812177A>C	ENSP00000370744:p.Ile585Met						p.I585M	NM_002223	NP_002214	Q14571	ITPR2_HUMAN			16	2172	-	Colorectal(261;0.0847)		585			Cytoplasmic (Potential).		O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.1755T>G	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	A	17.17	3.321551	0.60634	.	.	ENSG00000123104	ENST00000381340	D	0.95918	-3.85	4.69	3.56	0.40772	Intracellular calcium-release channel (1);	0.000000	0.85682	D	0.000000	D	0.97349	0.9133	M	0.88450	2.955	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.95987	0.8982	10	0.41790	T	0.15	.	7.7995	0.29166	0.8278:0.0:0.1722:0.0	.	585	Q14571	ITPR2_HUMAN	M	585	ENSP00000370744:I585M	ENSP00000370744:I585M	I	-	3	3	ITPR2	26703444	0.988000	0.35896	1.000000	0.80357	0.998000	0.95712	0.414000	0.21164	0.848000	0.35191	0.477000	0.44152	ATT		0.368	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		11	139	0	0	0	0	11	139				
ARNTL2	56938	broad.mit.edu	37	12	27533231	27533231	+	Silent	SNP	G	G	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr12:27533231G>A	ENST00000266503.5	+	5	396	c.378G>A	c.(376-378)ctG>ctA	p.L126L	ARNTL2_ENST00000542388.1_Silent_p.L41L|ARNTL2_ENST00000544915.1_Silent_p.L92L|ARNTL2_ENST00000311001.5_Silent_p.L112L|ARNTL2_ENST00000546179.1_Silent_p.L89L|ARNTL2_ENST00000261178.5_Silent_p.L78L|ARNTL2_ENST00000395901.2_Silent_p.L89L			Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	126	Interaction with PER2. {ECO:0000250|UniProtKB:Q2VPD4}.|bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|positive regulation of circadian rhythm (GO:0042753)|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)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	E-box binding (GO:0070888)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					TGAATAACCTGATTGAAGAAC	0.418																																						uc001rht.1		NA																	0				ovary(1)|skin(1)	2						c.(376-378)CTG>CTA		aryl hydrocarbon receptor nuclear							110.0	98.0	102.0					12																	27533231		2203	4300	6503	SO:0001819	synonymous_variant	56938				circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:27533231G>A	AF246961	CCDS8712.1, CCDS58219.1, CCDS58220.1, CCDS58221.1, CCDS58222.1	12p12.2-p11.2	2013-05-21			ENSG00000029153	ENSG00000029153		"""Basic helix-loop-helix proteins"""	18984	protein-coding gene	gene with protein product		614517				10864977, 10964693	Standard	NM_020183		Approved	BMAL2, MOP9, CLIF, PASD9, bHLHe6	uc001rht.2	Q8WYA1	OTTHUMG00000169257	ENST00000266503.5:c.378G>A	12.37:g.27533231G>A						ARNTL2_uc001rhw.2_Silent_p.L89L|ARNTL2_uc010sjp.1_Silent_p.L89L|ARNTL2_uc001rhu.1_Silent_p.L112L|ARNTL2_uc009zji.1_Silent_p.L92L|ARNTL2_uc001rhv.1_Silent_p.L78L	p.L126L	NM_020183	NP_064568	Q8WYA1	BMAL2_HUMAN			5	396	+	Colorectal(261;0.0847)|Lung SC(9;0.184)		126			Helix-loop-helix motif.		B7Z429|F5H402|Q8WYA2|Q8WYA3|Q8WYA4|Q96J63|Q9H2M4|Q9NS70|Q9NYQ4|Q9NYQ5	Silent	SNP	ENST00000266503.5	37	c.378G>A	CCDS8712.1																																																																																				0.418	ARNTL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403162.1	NM_020183		17	132	0	0	0	0	17	132				
CNTN1	1272	broad.mit.edu	37	12	41302265	41302265	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr12:41302265G>T	ENST00000551295.2	+	2	148	c.31G>T	c.(31-33)Gtg>Ttg	p.V11L	CNTN1_ENST00000360099.3_Missense_Mutation_p.V11L|CNTN1_ENST00000347616.1_Missense_Mutation_p.V11L|CNTN1_ENST00000547702.1_Missense_Mutation_p.V11L|CNTN1_ENST00000348761.2_Missense_Mutation_p.V11L|CNTN1_ENST00000547849.1_Missense_Mutation_p.V11L	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	11					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CAGTCATCTTGTGATAATATC	0.299																																						uc001rmm.1		NA																	0				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9						c.(31-33)GTG>TTG		contactin 1 isoform 1 precursor							108.0	116.0	113.0					12																	41302265		2202	4300	6502	SO:0001583	missense	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41302265G>T	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.31G>T	12.37:g.41302265G>T	ENSP00000447006:p.Val11Leu					CNTN1_uc009zjy.1_Missense_Mutation_p.V11L|CNTN1_uc001rmn.1_Missense_Mutation_p.V11L|CNTN1_uc001rmo.2_Missense_Mutation_p.V11L	p.V11L	NM_001843	NP_001834	Q12860	CNTN1_HUMAN			2	144	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	11					A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	c.31G>T	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	G	11.25	1.582290	0.28180	.	.	ENSG00000018236	ENST00000547702;ENST00000551424;ENST00000551295;ENST00000548005;ENST00000552248;ENST00000547849;ENST00000552913;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.63255	-0.03;0.37;-0.03;0.37;-0.03;0.38	5.2	-3.57	0.04612	.	0.893166	0.09410	N	0.805919	T	0.31979	0.0814	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.001;0.003;0.001	T	0.16958	-1.0385	10	0.19590	T	0.45	.	4.3998	0.11381	0.1628:0.5046:0.2102:0.1223	.	11;11;11	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	L	11	ENSP00000448004:V11L;ENSP00000447006:V11L;ENSP00000448653:V11L;ENSP00000325660:V11L;ENSP00000353213:V11L;ENSP00000261160:V11L	ENSP00000325660:V11L	V	+	1	0	CNTN1	39588532	0.005000	0.15991	0.001000	0.08648	0.370000	0.29829	-0.810000	0.04505	-0.256000	0.09473	0.455000	0.32223	GTG		0.299	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		26	21	1	0	1.56e-20	1.87e-20	26	21				
PRPF40B	25766	broad.mit.edu	37	12	50027756	50027756	+	Silent	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr12:50027756C>T	ENST00000380281.1	+	9	691	c.627C>T	c.(625-627)acC>acT	p.T209T	PRPF40B_ENST00000261897.1_Silent_p.T203T|PRPF40B_ENST00000548825.2_Silent_p.T231T			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	209					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CTGGCCCCACCCCAGTGCCCA	0.642																																						uc001rur.1		NA																	0				skin(2)|ovary(1)|pancreas(1)|kidney(1)	5						c.(625-627)ACC>ACT		Huntingtin interacting protein C isoform 1							54.0	66.0	62.0					12																	50027756		2203	4300	6503	SO:0001819	synonymous_variant	25766				mRNA processing|RNA splicing	nuclear speck		g.chr12:50027756C>T	AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.627C>T	12.37:g.50027756C>T						PRPF40B_uc001rup.1_Silent_p.T231T|PRPF40B_uc001ruq.1_Silent_p.T203T|PRPF40B_uc001rus.1_Silent_p.T152T	p.T209T	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN			9	691	+			209					O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Silent	SNP	ENST00000380281.1	37	c.627C>T																																																																																					0.642	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272		51	20	0	0	0	0	51	20				
RASSF9	9182	broad.mit.edu	37	12	86198764	86198764	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr12:86198764C>G	ENST00000361228.3	-	2	1392	c.1024G>C	c.(1024-1026)Gag>Cag	p.E342Q		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	342					endosomal transport (GO:0016197)|protein targeting (GO:0006605)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|trans-Golgi network transport vesicle membrane (GO:0012510)	transporter activity (GO:0005215)			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TATTTAATCTCTTTCTGGATG	0.373																																						uc001taf.1		NA																	0				ovary(1)	1						c.(1024-1026)GAG>CAG		Ras association (RalGDS/AF-6) domain family							178.0	181.0	180.0					12																	86198764		1855	4083	5938	SO:0001583	missense	9182				endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity	g.chr12:86198764C>G		CCDS44950.1	12q21.31	2008-02-22	2008-02-22	2008-02-22		ENSG00000198774			15739	protein-coding gene	gene with protein product		610383	"""peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor"""	PAMCI		9837933, 18272789	Standard	NM_005447		Approved	P-CIP1	uc001taf.1	O75901	OTTHUMG00000169831	ENST00000361228.3:c.1024G>C	12.37:g.86198764C>G	ENSP00000354884:p.Glu342Gln						p.E342Q	NM_005447	NP_005438	O75901	RASF9_HUMAN			2	1363	-			342					B3KMQ4|Q8N5U8	Missense_Mutation	SNP	ENST00000361228.3	37	c.1024G>C	CCDS44950.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.504248	0.44558	.	.	ENSG00000198774	ENST00000361228	T	0.43688	0.94	4.9	4.9	0.64082	.	0.070422	0.56097	U	0.000026	T	0.31009	0.0783	N	0.14661	0.345	0.40530	D	0.980923	P	0.51537	0.946	P	0.46253	0.509	T	0.06844	-1.0804	10	0.27082	T	0.32	-17.1087	14.0839	0.64942	0.0:0.8491:0.1509:0.0	.	342	O75901	RASF9_HUMAN	Q	342	ENSP00000354884:E342Q	ENSP00000354884:E342Q	E	-	1	0	RASSF9	84722895	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.547000	0.53663	2.419000	0.82065	0.650000	0.86243	GAG		0.373	RASSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406109.1			104	68	0	0	0	0	104	68				
APAF1	317	broad.mit.edu	37	12	99060113	99060113	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr12:99060113A>G	ENST00000551964.1	+	9	2076	c.1340A>G	c.(1339-1341)gAg>gGg	p.E447G	APAF1_ENST00000550527.1_Missense_Mutation_p.E436G|APAF1_ENST00000547045.1_Missense_Mutation_p.E447G|APAF1_ENST00000359972.2_Missense_Mutation_p.E436G|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000339433.3_Missense_Mutation_p.E447G|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000357310.1_Missense_Mutation_p.E447G|APAF1_ENST00000549007.1_Missense_Mutation_p.E447G	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	447					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TTTCTTACAGAGAAGAATTGC	0.294																																						uc001tfz.2		NA																	0				ovary(2)|lung(1)	3						c.(1339-1341)GAG>GGG		apoptotic peptidase activating factor 1 isoform	Adenosine triphosphate(DB00171)						94.0	101.0	98.0					12																	99060113		2202	4300	6502	SO:0001583	missense	317				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding	g.chr12:99060113A>G	AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.1340A>G	12.37:g.99060113A>G	ENSP00000448165:p.Glu447Gly					APAF1_uc001tfy.2_Missense_Mutation_p.E436G|APAF1_uc001tga.2_Missense_Mutation_p.E436G|APAF1_uc001tgb.2_Missense_Mutation_p.E447G|APAF1_uc001tgc.2_Intron	p.E447G	NM_181861	NP_863651	O14727	APAF_HUMAN			9	1917	+			447					B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Missense_Mutation	SNP	ENST00000551964.1	37	c.1340A>G	CCDS9069.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.769561	0.90020	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000550527;ENST00000547045;ENST00000549007	T;T;T;T;T;T;T	0.61274	0.12;0.24;0.21;0.32;0.12;0.21;0.32	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.74876	0.3774	M	0.68952	2.095	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;0.998;0.997	T	0.77624	-0.2518	10	0.87932	D	0	-29.9181	16.0828	0.81017	1.0:0.0:0.0:0.0	.	447;436;447;436	O14727-4;O14727-3;O14727;O14727-2	.;.;APAF_HUMAN;.	G	447;436;447;447;436;447;447	ENSP00000448165:E447G;ENSP00000353059:E436G;ENSP00000349862:E447G;ENSP00000341830:E447G;ENSP00000448449:E436G;ENSP00000449791:E447G;ENSP00000448161:E447G	ENSP00000341830:E447G	E	+	2	0	APAF1	97584244	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.675000	0.91195	2.206000	0.71126	0.477000	0.44152	GAG		0.294	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1		28	30	0	0	0	0	28	30				
SLC5A8	160728	broad.mit.edu	37	12	101603574	101603574	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr12:101603574A>T	ENST00000536262.2	-	1	611	c.53T>A	c.(52-54)tTc>tAc	p.F18Y		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CATGCCCGCGAACACCACGTA	0.692																																					GBM(60;420 1056 13605 22380 47675)	uc001thz.3		NA																	0					0						c.(52-54)TTC>TAC		solute carrier family 5 (iodide transporter),							26.0	24.0	25.0					12																	101603574		2191	4281	6472	SO:0001583	missense	160728				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	g.chr12:101603574A>T	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.53T>A	12.37:g.101603574A>T	ENSP00000445340:p.Phe18Tyr						p.F18Y	NM_145913	NP_666018	Q8N695	SC5A8_HUMAN			1	443	-			18			Helical; (Potential).			Missense_Mutation	SNP	ENST00000536262.2	37	c.53T>A	CCDS9080.1	.	.	.	.	.	.	.	.	.	.	A	35	5.473807	0.96291	.	.	ENSG00000256870	ENST00000536262	D	0.89123	-2.47	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.96355	0.8811	H	0.96861	3.895	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.97762	1.0221	10	0.87932	D	0	.	15.0987	0.72256	1.0:0.0:0.0:0.0	.	18	Q8N695	SC5A8_HUMAN	Y	18	ENSP00000445340:F18Y	ENSP00000445340:F18Y	F	-	2	0	SLC5A8	100127705	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.250000	0.95477	1.970000	0.57323	0.459000	0.35465	TTC		0.692	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913		16	8	0	0	0	0	16	8				
DDX55	57696	broad.mit.edu	37	12	124104214	124104214	+	Silent	SNP	G	G	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr12:124104214G>A	ENST00000238146.4	+	13	1619	c.1569G>A	c.(1567-1569)aaG>aaA	p.K523K	SNORA9_ENST00000384170.1_RNA|DDX55_ENST00000538744.1_Silent_p.K492K|DDX55_ENST00000421670.3_Silent_p.K130K	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	523	Lys-rich.					membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		cttggtcaaagcagaaggcca	0.328																																						uc001ufi.2		NA																	0				ovary(1)	1						c.(1567-1569)AAG>AAA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 55							18.0	20.0	20.0					12																	124104214		2153	4287	6440	SO:0001819	synonymous_variant	57696						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr12:124104214G>A	AB046815	CCDS9251.1	12q24.31	2003-06-13			ENSG00000111364	ENSG00000111364		"""DEAD-boxes"""	20085	protein-coding gene	gene with protein product						10997877	Standard	NM_020936		Approved	KIAA1595	uc001ufi.3	Q8NHQ9	OTTHUMG00000168695	ENST00000238146.4:c.1569G>A	12.37:g.124104214G>A						DDX55_uc001ufh.2_3'UTR|DDX55_uc001ufk.2_Silent_p.K376K|DDX55_uc001ufl.2_Silent_p.K130K	p.K523K	NM_020936	NP_065987	Q8NHQ9	DDX55_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)	13	1593	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		523			Lys-rich.		Q658L6|Q8IYH0|Q9HCH7	Silent	SNP	ENST00000238146.4	37	c.1569G>A	CCDS9251.1																																																																																				0.328	DDX55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400616.2			7	15	0	0	0	0	7	15				
CDK8	1024	broad.mit.edu	37	13	26967636	26967636	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr13:26967636G>T	ENST00000381527.3	+	7	1282	c.779G>T	c.(778-780)gGa>gTa	p.G260V	CDK8_ENST00000536792.1_3'UTR	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	260	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		AATGTAATGGGATTTCCTGCA	0.353																																						uc001uqr.1		NA																	0				lung(2)|large_intestine(1)|ovary(1)|skin(1)	5						c.(778-780)GGA>GTA		cyclin-dependent kinase 8							187.0	179.0	182.0					13																	26967636		2203	4300	6503	SO:0001583	missense	1024				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr13:26967636G>T	X85753	CCDS9317.1	13q12	2011-11-08			ENSG00000132964	ENSG00000132964		"""Cyclin-dependent kinases"""	1779	protein-coding gene	gene with protein product		603184				7568034	Standard	NM_001260		Approved	K35	uc001uqr.1	P49336	OTTHUMG00000016617	ENST00000381527.3:c.779G>T	13.37:g.26967636G>T	ENSP00000370938:p.Gly260Val					CDK8_uc001uqs.1_Missense_Mutation_p.G260V|CDK8_uc001uqt.1_Missense_Mutation_p.G87V	p.G260V	NM_001260	NP_001251	P49336	CDK8_HUMAN		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)	7	805	+	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)	260			Protein kinase.		Q5VUF3|Q6ISB5	Missense_Mutation	SNP	ENST00000381527.3	37	c.779G>T	CCDS9317.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.493592	0.84962	.	.	ENSG00000132964	ENST00000381527	T	0.57273	0.41	5.46	5.46	0.80206	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.80460	0.4627	M	0.92367	3.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.992;0.996	D	0.84793	0.0780	10	0.87932	D	0	-11.9843	19.6606	0.95868	0.0:0.0:1.0:0.0	.	260;260	P49336-2;P49336	.;CDK8_HUMAN	V	260	ENSP00000370938:G260V	ENSP00000370938:G260V	G	+	2	0	CDK8	25865636	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.420000	0.97426	2.714000	0.92807	0.650000	0.86243	GGA		0.353	CDK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044250.1			69	52	1	0	5.94e-25	7.16e-25	69	52				
RB1	5925	broad.mit.edu	37	13	48951101	48951101	+	Silent	SNP	T	T	C			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr13:48951101T>C	ENST00000267163.4	+	13	1401	c.1263T>C	c.(1261-1263)gaT>gaC	p.D421D		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	421	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GAGTGAAGGATATAGGATACA	0.358		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.2		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	D|Mis|N|F|S	retinoblastoma gene			"""L, E, M, O"""		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung		23	Whole gene deletion(15)|Unknown(8)	p.?(7)	bone(11)|breast(5)|central_nervous_system(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358						c.(1261-1263)GAT>GAC		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						107.0	115.0	113.0					13																	48951101		2203	4299	6502	SO:0001819	synonymous_variant	5925	Hereditary_Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48951101T>C	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1263T>C	13.37:g.48951101T>C		TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				RB1_uc010act.1_Silent_p.D122D	p.D421D	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	13	1429	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	421			Domain A.|Pocket; binds T and E1A.		A8K5E3|P78499|Q5VW46|Q8IZL4	Silent	SNP	ENST00000267163.4	37	c.1263T>C	CCDS31973.1																																																																																				0.358	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			28	16	0	0	0	0	28	16				
MLNR	2862	broad.mit.edu	37	13	49795353	49795353	+	Missense_Mutation	SNP	C	C	T	rs570865470		TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr13:49795353C>T	ENST00000218721.1	+	1	880	c.880C>T	c.(880-882)Cgg>Tgg	p.R294W	MLNR_ENST00000398307.1_Missense_Mutation_p.R294W	NM_001507.1	NP_001498.1	O43193	MTLR_HUMAN	motilin receptor	294					digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone-releasing hormone receptor activity (GO:0016520)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		GAGAGGCCACCGGCAGACCGT	0.736													C|||	1	0.000199681	0.0	0.0	5008	,	,		9471	0.001		0.0	False		,,,				2504	0.0					uc010tgj.1		NA																	0					0						c.(880-882)CGG>TGG		motilin receptor							5.0	7.0	7.0					13																	49795353		2002	3785	5787	SO:0001583	missense	2862				digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity	g.chr13:49795353C>T	AF034632	CCDS9414.1	13q14-q21	2012-08-08	2004-05-27	2004-05-28	ENSG00000102539	ENSG00000102539		"""GPCR / Class A : Motilin receptors"""	4495	protein-coding gene	gene with protein product		602885	"""G protein-coupled receptor 38"""	GPR38		9441746	Standard	NM_001507		Approved		uc010tgj.2	O43193	OTTHUMG00000016909	ENST00000218721.1:c.880C>T	13.37:g.49795353C>T	ENSP00000218721:p.Arg294Trp						p.R294W	NM_001507	NP_001498	O43193	MTLR_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)	1	880	+		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	294			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000218721.1	37	c.880C>T	CCDS9414.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.340864	0.41498	.	.	ENSG00000102539	ENST00000218721;ENST00000398307	T;T	0.74002	-0.8;1.05	4.53	2.79	0.32731	GPCR, rhodopsin-like superfamily (1);	0.055900	0.64402	U	0.000002	D	0.85725	0.5763	M	0.91459	3.21	0.22918	N	0.998568	D	0.89917	1.0	D	0.79784	0.993	T	0.76055	-0.3099	10	0.87932	D	0	-7.5294	5.3143	0.15847	0.1597:0.6666:0.0:0.1737	.	294	O43193	MTLR_HUMAN	W	294	ENSP00000218721:R294W;ENSP00000381352:R294W	ENSP00000218721:R294W	R	+	1	2	MLNR	48693354	0.002000	0.14202	0.062000	0.19696	0.006000	0.05464	0.300000	0.19156	0.346000	0.23899	0.462000	0.41574	CGG		0.736	MLNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044897.1	NM_001507		3	2	0	0	0	0	3	2				
RBM26	64062	broad.mit.edu	37	13	79945213	79945213	+	Silent	SNP	G	G	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr13:79945213G>A	ENST00000438737.2	-	5	941	c.501C>T	c.(499-501)gaC>gaT	p.D167D	RBM26_ENST00000438724.1_Silent_p.D167D|RBM26_ENST00000267229.7_Silent_p.D167D			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	167	Arg-rich.				mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TATTGTACCGGTCTCTGTATG	0.453																																						uc001vkz.2		NA																	0				ovary(1)	1						c.(499-501)GAC>GAT		RNA binding motif protein 26							131.0	131.0	131.0					13																	79945213		2203	4300	6503	SO:0001819	synonymous_variant	64062				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr13:79945213G>A	AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	20327	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 2"", ""protein phosphatase 1, regulatory 132"""		"""chromosome 13 open reading frame 10"""	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.501C>T	13.37:g.79945213G>A						RBM26_uc001vky.2_Silent_p.D167D|RBM26_uc001vla.2_Silent_p.D167D|RBM26_uc001vkx.2_5'Flank|RBM26_uc001vlb.1_RNA	p.D167D	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN		GBM - Glioblastoma multiforme(99;0.0188)	5	515	-		Acute lymphoblastic leukemia(28;0.0279)	167			Arg-rich.		B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Silent	SNP	ENST00000438737.2	37	c.501C>T																																																																																					0.453	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045373.4	NM_022118		49	32	0	0	0	0	49	32				
ERCC5	2073	broad.mit.edu	37	13	103513864	103513864	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr13:103513864A>T	ENST00000355739.4	+	7	2103	c.680A>T	c.(679-681)gAt>gTt	p.D227V	BIVM-ERCC5_ENST00000602836.1_Nonstop_Mutation_p.*652C	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	227					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TAGGAGTCTGATGACTTTTCA	0.338			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc001vpw.2		NA	yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	Mis|N|F	"""excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"""			E		skin basal cell|skin squamous cell|melanoma			0				ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						c.(679-681)GAT>GTT	Direct_reversal_of_damage|NER	XPG-complementing protein							85.0	86.0	85.0					13																	103513864		2203	4300	6503	SO:0001583	missense	2073	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding	g.chr13:103513864A>T	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"""Cockayne syndrome"""	133530	"""xeroderma pigmentosum, complementation group G"", ""excision repair cross-complementing rodent repair deficiency, complementation group 5"""	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.680A>T	13.37:g.103513864A>T	ENSP00000347978:p.Asp227Val					ERCC5_uc001vpu.1_Missense_Mutation_p.D681V|ERCC5_uc010tjb.1_Missense_Mutation_p.D227V|ERCC5_uc010tjc.1_RNA|ERCC5_uc010tjd.1_Missense_Mutation_p.D59V	p.D227V	NM_000123	NP_000114	P28715	ERCC5_HUMAN			7	1123	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		227					A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP	ENST00000355739.4	37	c.680A>T	CCDS32004.1	.	.	.	.	.	.	.	.	.	.	A	14.51	2.558362	0.45590	.	.	ENSG00000134899	ENST00000418659;ENST00000355739;ENST00000375955	T	0.19394	2.15	5.75	4.57	0.56435	.	0.226336	0.47455	D	0.000237	T	0.16471	0.0396	L	0.32530	0.975	0.80722	D	1	B;B;B	0.14438	0.01;0.003;0.009	B;B;B	0.15484	0.013;0.0;0.001	T	0.03922	-1.0992	10	0.30078	T	0.28	-19.982	11.6855	0.51483	0.9309:0.0:0.0691:0.0	.	227;227;652	B4DSI5;P28715;Q59FZ7	.;ERCC5_HUMAN;.	V	652;227;59	ENSP00000347978:D227V	ENSP00000347978:D227V	D	+	2	0	ERCC5	102311865	1.000000	0.71417	0.995000	0.50966	0.906000	0.53458	1.460000	0.35244	1.004000	0.39156	0.455000	0.32223	GAT		0.338	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1			36	21	0	0	0	0	36	21				
RNF31	55072	broad.mit.edu	37	14	24624491	24624491	+	Silent	SNP	C	C	G			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr14:24624491C>G	ENST00000324103.6	+	12	2576	c.2256C>G	c.(2254-2256)ctC>ctG	p.L752L	RNF31_ENST00000382687.3_Silent_p.L601L|RP11-468E2.4_ENST00000558468.1_Silent_p.L227L|RNF31_ENST00000559275.1_Silent_p.L601L	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	752					CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		GCCCCGACCTCACCGATGACA	0.577																																						uc001wmn.1		NA																	0				large_intestine(1)|ovary(1)	2						c.(2254-2256)CTC>CTG		ring finger protein 31							142.0	152.0	148.0					14																	24624491		2159	4254	6413	SO:0001819	synonymous_variant	55072				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:24624491C>G	AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"""RING-type (C3HC4) zinc fingers"""	16031	protein-coding gene	gene with protein product	"""HOIL-1-interacting protein"""	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.2256C>G	14.37:g.24624491C>G						RNF31_uc001wml.1_Silent_p.L601L|RNF31_uc001wmm.1_RNA|RNF31_uc010alg.1_Silent_p.L511L|RNF31_uc001wmo.1_Silent_p.L219L|RNF31_uc001wmp.2_RNA|RNF31_uc010alh.1_5'Flank	p.L752L	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN		GBM - Glioblastoma multiforme(265;0.00861)	12	2505	+			752					A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Silent	SNP	ENST00000324103.6	37	c.2256C>G	CCDS41931.1																																																																																				0.577	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	NM_017999		40	33	0	0	0	0	40	33				
HECTD1	25831	broad.mit.edu	37	14	31581699	31581699	+	Silent	SNP	T	T	C			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr14:31581699T>C	ENST00000399332.1	-	35	6689	c.6201A>G	c.(6199-6201)ttA>ttG	p.L2067L	HECTD1_ENST00000553700.1_Silent_p.L2067L	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2067	K-box.				neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		ATTTGCTGGTTAATTGTTCAC	0.393																																						uc001wrc.1		NA																	0				ovary(3)|large_intestine(1)|lung(1)	5						c.(6199-6201)TTA>TTG		HECT domain containing 1							67.0	64.0	65.0					14																	31581699		1879	4107	5986	SO:0001819	synonymous_variant	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31581699T>C	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.6201A>G	14.37:g.31581699T>C						HECTD1_uc001wra.1_Silent_p.L193L|HECTD1_uc001wrb.1_Silent_p.L193L	p.L2067L	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	35	6690	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		2067			K-box.		D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Silent	SNP	ENST00000399332.1	37	c.6201A>G	CCDS41939.1																																																																																				0.393	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			16	33	0	0	0	0	16	33				
DNAAF2	55172	broad.mit.edu	37	14	50101425	50101425	+	Missense_Mutation	SNP	G	G	T	rs575918888	byFrequency	TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr14:50101425G>T	ENST00000298292.8	-	1	523	c.443C>A	c.(442-444)cCa>cAa	p.P148Q	DNAAF2_ENST00000406043.3_Missense_Mutation_p.P148Q	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	148					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)				kidney(1)|lung(4)	5						AAGCGCGTCTGGATGGAAGAC	0.706																																						uc001wws.3		NA																	0					0						c.(442-444)CCA>CAA		kintoun isoform 1							21.0	23.0	22.0					14																	50101425		1964	4127	6091	SO:0001583	missense	55172	Kartagener_syndrome			axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm		g.chr14:50101425G>T	AK001425	CCDS9691.2, CCDS45100.1	14q21.3	2012-05-03	2011-06-09	2011-06-09	ENSG00000165506	ENSG00000165506			20188	protein-coding gene	gene with protein product	"""kintoun"""	612517	"""chromosome 14 open reading frame 104"""	C14orf104			Standard	NM_001083908		Approved	FLJ10563, KTU, PF13, CILD10	uc001wws.4	Q9NVR5	OTTHUMG00000152331	ENST00000298292.8:c.443C>A	14.37:g.50101425G>T	ENSP00000298292:p.Pro148Gln					SDCCAG1_uc010anj.1_Intron|C14orf104_uc001wwt.3_Missense_Mutation_p.P148Q	p.P148Q	NM_018139	NP_060609	Q9NVR5	KTU_HUMAN			1	524	-	all_epithelial(31;0.0021)|Breast(41;0.0124)		148					B9WS54|C0JAP7|Q86TR1|Q86TY8|Q969Z5	Missense_Mutation	SNP	ENST00000298292.8	37	c.443C>A	CCDS9691.2	.	.	.	.	.	.	.	.	.	.	G	22.6	4.308203	0.81247	.	.	ENSG00000165506	ENST00000298292;ENST00000406043	T;T	0.28069	1.63;1.63	5.21	5.21	0.72293	.	.	.	.	.	T	0.57917	0.2086	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	1.0;0.97	D;P	0.97110	1.0;0.907	T	0.60271	-0.7296	9	0.54805	T	0.06	.	18.408	0.90541	0.0:0.0:1.0:0.0	.	148;148	Q9NVR5-2;Q9NVR5	.;KTU_HUMAN	Q	148	ENSP00000298292:P148Q;ENSP00000384862:P148Q	ENSP00000298292:P148Q	P	-	2	0	DNAAF2	49171175	1.000000	0.71417	0.956000	0.39512	0.498000	0.33706	8.686000	0.91250	2.440000	0.82611	0.456000	0.33151	CCA		0.706	DNAAF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276813.1			8	20	1	0	2.53e-12	2.94e-12	8	20				
TBPL2	387332	broad.mit.edu	37	14	55903569	55903569	+	Silent	SNP	A	A	G			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr14:55903569A>G	ENST00000247219.5	-	2	388	c.318T>C	c.(316-318)gtT>gtC	p.V106V		NM_199047.2	NP_950248.1			TATA box binding protein like 2											endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						TTTCCTGGGTAACTTCATCTG	0.423																																						uc001xby.2		NA																	0					0						c.(316-318)GTT>GTC		TATA box binding protein like 2							135.0	122.0	127.0					14																	55903569		2203	4300	6503	SO:0001819	synonymous_variant	387332				multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding	g.chr14:55903569A>G	AY457923	CCDS9724.1	14q22.2	2004-06-03			ENSG00000182521	ENSG00000182521			19841	protein-coding gene	gene with protein product		608964				14634207	Standard	NM_199047		Approved	TRF3, TBP2	uc001xby.3	Q6SJ96	OTTHUMG00000140313	ENST00000247219.5:c.318T>C	14.37:g.55903569A>G							p.V106V	NM_199047	NP_950248	Q6SJ96	TBPL2_HUMAN			2	318	-			106						Silent	SNP	ENST00000247219.5	37	c.318T>C	CCDS9724.1																																																																																				0.423	TBPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276916.1	NM_199047		30	33	0	0	0	0	30	33				
SYNE2	23224	broad.mit.edu	37	14	64679605	64679605	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr14:64679605A>G	ENST00000344113.4	+	105	19150	c.18938A>G	c.(18937-18939)aAg>aGg	p.K6313R	SYNE2_ENST00000441438.2_5'Flank|SYNE2_ENST00000358025.3_Missense_Mutation_p.K6313R|SYNE2_ENST00000458046.2_5'Flank|SYNE2_ENST00000554584.1_Missense_Mutation_p.K6272R|SYNE2_ENST00000555022.1_Missense_Mutation_p.K191R|SYNE2_ENST00000394768.2_Missense_Mutation_p.K2698R|SYNE2_ENST00000357395.3_Missense_Mutation_p.K2698R|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.K2947R|SYNE2_ENST00000554805.1_Missense_Mutation_p.K96R	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6313					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTGATTCAGAAGAGCGAGCCC	0.522																																						uc001xgm.2		NA																	0				ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(18937-18939)AAG>AGG		spectrin repeat containing, nuclear envelope 2							91.0	90.0	90.0					14																	64679605		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64679605A>G	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.18938A>G	14.37:g.64679605A>G	ENSP00000341781:p.Lys6313Arg					SYNE2_uc001xgl.2_Missense_Mutation_p.K6313R|SYNE2_uc010apy.2_Missense_Mutation_p.K2698R|SYNE2_uc001xgn.2_Missense_Mutation_p.K1275R|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Missense_Mutation_p.K283R|SYNE2_uc001xgq.2_Missense_Mutation_p.K678R|SYNE2_uc001xgr.2_Missense_Mutation_p.K96R|SYNE2_uc010tsi.1_5'Flank|SYNE2_uc001xgs.2_5'Flank	p.K6313R	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	105	19168	+			6313			Spectrin 8.|Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.18938A>G	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	A	14.96	2.691328	0.48097	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805	T;T;T;T;T;T;T;T	0.61392	0.41;3.72;0.4;0.11;3.78;3.72;3.42;2.93	5.34	5.34	0.76211	.	0.000000	0.52532	D	0.000080	T	0.67353	0.2884	L	0.41710	1.295	0.80722	D	1	D;P;D;D;D	0.63046	0.987;0.861;0.976;0.973;0.992	D;P;D;D;P	0.66351	0.943;0.609;0.909;0.913;0.902	T	0.69661	-0.5085	10	0.59425	D	0.04	.	15.6228	0.76820	1.0:0.0:0.0:0.0	.	2698;701;6272;6313;6313	Q8WXH0-7;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;SYNE2_HUMAN;.	R	6313;2698;6313;6272;6278;2947;2698;191;96	ENSP00000350719:K6313R;ENSP00000349969:K2698R;ENSP00000341781:K6313R;ENSP00000452570:K6272R;ENSP00000450831:K2947R;ENSP00000378249:K2698R;ENSP00000451009:K191R;ENSP00000450605:K96R	ENSP00000261678:K6278R	K	+	2	0	SYNE2	63749358	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	6.092000	0.71414	2.146000	0.66826	0.379000	0.24179	AAG		0.522	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		48	39	0	0	0	0	48	39				
ACOT2	10965	broad.mit.edu	37	14	74036297	74036297	+	Missense_Mutation	SNP	C	C	T	rs531121405		TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr14:74036297C>T	ENST00000238651.5	+	1	535	c.353C>T	c.(352-354)aCt>aTt	p.T118I	ACOT2_ENST00000538782.1_Intron	NM_006821.5	NP_006812.3	P49753	ACOT2_HUMAN	acyl-CoA thioesterase 2	118					acyl-CoA metabolic process (GO:0006637)|long-chain fatty acid metabolic process (GO:0001676)|very long-chain fatty acid metabolic process (GO:0000038)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		CGCGCCGACACTCTTGGCGAG	0.741													C|||	1	0.000199681	0.0	0.0	5008	,	,		12208	0.0		0.0	False		,,,				2504	0.001					uc001xon.3		NA																	0				skin(1)	1						c.(352-354)ACT>ATT		acyl-CoA thioesterase 2							8.0	9.0	9.0					14																	74036297		2100	4128	6228	SO:0001583	missense	10965				acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	mitochondrion	carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding	g.chr14:74036297C>T	AY005822, AK001939	CCDS9816.1	14q24.3	2013-09-20			ENSG00000119673	ENSG00000119673		"""Acyl CoA thioesterases"""	18431	protein-coding gene	gene with protein product	"""mitochondrial acyl-CoA thioesterase 1"""	609972				16103133, 16940157	Standard	NM_006821		Approved	Mte1, ZAP128	uc001xon.5	P49753	OTTHUMG00000171608	ENST00000238651.5:c.353C>T	14.37:g.74036297C>T	ENSP00000238651:p.Thr118Ile					ACOT1_uc010tuc.1_Intron|ACOT2_uc001xom.2_Intron	p.T118I	NM_006821	NP_006812	P49753	ACOT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)	1	526	+			118					Q3I5F8|Q53EK4|Q9NUX4	Missense_Mutation	SNP	ENST00000238651.5	37	c.353C>T	CCDS9816.1	.	.	.	.	.	.	.	.	.	.	C	6.290	0.421626	0.11928	.	.	ENSG00000119673	ENST00000238651	T	0.70282	-0.47	3.81	-1.74	0.08056	Acyl-CoA thioester hydrolase/bile acid-CoA amino acid N-acetyltransferase (1);	1.404440	0.04704	N	0.416476	T	0.63390	0.2507	L	0.47716	1.5	0.09310	N	1	B	0.25235	0.121	B	0.24269	0.052	T	0.54370	-0.8304	10	0.51188	T	0.08	-0.4326	8.965	0.35872	0.4313:0.4446:0.1242:0.0	.	118	P49753	ACOT2_HUMAN	I	118	ENSP00000238651:T118I	ENSP00000238651:T118I	T	+	2	0	ACOT2	73106050	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.014000	0.13333	-0.097000	0.12307	0.467000	0.42956	ACT		0.741	ACOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414435.1	NM_006821		17	16	0	0	0	0	17	16				
OTUB2	78990	broad.mit.edu	37	14	94510931	94510931	+	Splice_Site	SNP	G	G	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr14:94510931G>A	ENST00000203664.5	+	5	512		c.e5-1			NM_023112.3	NP_075601.1	Q96DC9	OTUB2_HUMAN	OTU deubiquitinase, ubiquitin aldehyde binding 2						cellular amino acid metabolic process (GO:0006520)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	nucleus (GO:0005634)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5		all_cancers(154;0.12)		Epithelial(152;0.124)|all cancers(159;0.21)|COAD - Colon adenocarcinoma(157;0.215)		GGCGGGCGCAGTTTTACAGTG	0.622																																						uc001yci.2		NA																	0					0						c.e5-1		OTU domain, ubiquitin aldehyde binding 2							76.0	68.0	71.0					14																	94510931		2203	4300	6503	SO:0001630	splice_region_variant	78990				cellular amino acid metabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination		omega peptidase activity|protein binding|ubiquitin-specific protease activity	g.chr14:94510931G>A	AF318378	CCDS9917.1	14q32.13-q32.2	2014-02-24	2014-02-24	2004-05-28		ENSG00000089723		"""OTU domain containing"""	20351	protein-coding gene	gene with protein product		608338	"""chromosome 14 open reading frame 137"", ""OTU domain, ubiquitin aldehyde binding 2"""	C14orf137		12704427, 19996094	Standard	NM_023112		Approved	FLJ21916, MGC3102	uc001ych.4	Q96DC9		ENST00000203664.5:c.304-1G>A	14.37:g.94510931G>A							p.F102_splice	NM_023112	NP_075601	Q96DC9	OTUB2_HUMAN		Epithelial(152;0.124)|all cancers(159;0.21)|COAD - Colon adenocarcinoma(157;0.215)	5	464	+		all_cancers(154;0.12)						Q6IA10|Q9H6T1	Splice_Site	SNP	ENST00000203664.5	37	c.304_splice	CCDS9917.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.601920	0.46423	.	.	ENSG00000089723	ENST00000203664	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1763	0.86842	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OTUB2	93580684	1.000000	0.71417	0.996000	0.52242	0.256000	0.26092	5.329000	0.65892	2.659000	0.90383	0.561000	0.74099	.		0.622	OTUB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412855.1		Intron	12	26	0	0	0	0	12	26				
RYR3	6263	broad.mit.edu	37	15	34016286	34016286	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr15:34016286A>T	ENST00000389232.4	+	45	6891	c.6821A>T	c.(6820-6822)gAg>gTg	p.E2274V	RYR3_ENST00000415757.3_Missense_Mutation_p.E2274V|Y_RNA_ENST00000363138.1_RNA	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2274	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GACGATGAAGAGGAAGAAGAA	0.502																																						uc001zhi.2		NA																	0				ovary(5)|central_nervous_system(4)|lung(1)	10						c.(6820-6822)GAG>GTG		ryanodine receptor 3							95.0	102.0	100.0					15																	34016286		2013	4183	6196	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34016286A>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.6821A>T	15.37:g.34016286A>T	ENSP00000373884:p.Glu2274Val					RYR3_uc010bar.2_Missense_Mutation_p.E2274V	p.E2274V	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	45	6891	+		all_lung(180;7.18e-09)	2274			4 X approximate repeats.|Cytoplasmic (By similarity).		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.6821A>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	A	14.35	2.508464	0.44660	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.98531	-4.98;-4.98	5.39	4.25	0.50352	.	0.385424	0.26820	N	0.022339	D	0.97096	0.9051	M	0.69823	2.125	0.37010	D	0.895673	P;P	0.45428	0.741;0.858	B;B	0.43225	0.2;0.412	D	0.98863	1.0763	10	0.87932	D	0	.	11.2192	0.48844	0.9174:0.0:0.0826:0.0	.	2274;2274	Q15413-2;Q15413	.;RYR3_HUMAN	V	2274	ENSP00000373884:E2274V;ENSP00000399610:E2274V	ENSP00000354735:E2274V	E	+	2	0	RYR3	31803578	1.000000	0.71417	0.994000	0.49952	0.726000	0.41606	5.062000	0.64326	2.266000	0.75297	0.533000	0.62120	GAG		0.502	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			16	10	0	0	0	0	16	10				
ONECUT1	3175	broad.mit.edu	37	15	53081808	53081808	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr15:53081808C>T	ENST00000305901.5	-	1	401	c.274G>A	c.(274-276)Gag>Aag	p.E92K	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	92					B cell differentiation (GO:0030183)|cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|endoderm development (GO:0007492)|epithelial cell development (GO:0002064)|glucose metabolic process (GO:0006006)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription, DNA-templated (GO:0006355)|spleen development (GO:0048536)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		GGGGGAGTCTCGCAGGCCATG	0.677																																						uc002aci.1		NA																	0					0						c.(274-276)GAG>AAG		one cut homeobox 1							58.0	51.0	53.0					15																	53081808		2194	4293	6487	SO:0001583	missense	3175				endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	g.chr15:53081808C>T	U77975	CCDS10150.1	15q21.3	2012-03-09	2007-07-16		ENSG00000169856	ENSG00000169856		"""Homeoboxes / CUT class"""	8138	protein-coding gene	gene with protein product		604164	"""one cut domain, family member 1"""	HNF6, HNF6A		8887657, 8790352	Standard	NM_004498		Approved	HNF-6	uc002aci.2	Q9UBC0	OTTHUMG00000131899	ENST00000305901.5:c.274G>A	15.37:g.53081808C>T	ENSP00000302630:p.Glu92Lys						p.E92K	NM_004498	NP_004489	Q9UBC0	HNF6_HUMAN		all cancers(107;0.0708)	1	402	-			92					B2RTV4|Q99744|Q9UMR6	Missense_Mutation	SNP	ENST00000305901.5	37	c.274G>A	CCDS10150.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.388548	0.61956	.	.	ENSG00000169856	ENST00000305901	T	0.47869	0.83	4.17	4.17	0.49024	.	0.060668	0.64402	D	0.000005	T	0.38878	0.1057	M	0.61703	1.905	0.80722	D	1	P	0.40638	0.725	B	0.19148	0.024	T	0.50972	-0.8764	10	0.48119	T	0.1	-13.0344	15.2159	0.73267	0.0:1.0:0.0:0.0	.	92	Q9UBC0	HNF6_HUMAN	K	92	ENSP00000302630:E92K	ENSP00000302630:E92K	E	-	1	0	ONECUT1	50869100	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.382000	0.79729	2.144000	0.66660	0.436000	0.28706	GAG		0.677	ONECUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254849.2			27	13	0	0	0	0	27	13				
PRTG	283659	broad.mit.edu	37	15	55965703	55965703	+	Missense_Mutation	SNP	G	G	A	rs373191733		TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr15:55965703G>A	ENST00000389286.4	-	10	1765	c.1718C>T	c.(1717-1719)aCg>aTg	p.T573M		NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		GTACTCATGCGTGGTCCCCGG	0.537																																						uc002adg.2		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(1717-1719)ACG>ATG		protogenin precursor		G	MET/THR	0,3806		0,0,1903	105.0	107.0	106.0		1718	-1.6	0.1	15		106	1,8225		0,1,4112	no	missense	PRTG	NM_173814.4	81	0,1,6015	AA,AG,GG		0.0122,0.0,0.0083	possibly-damaging	573/1151	55965703	1,12031	1903	4113	6016	SO:0001583	missense	283659				multicellular organismal development	integral to membrane		g.chr15:55965703G>A	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.1718C>T	15.37:g.55965703G>A	ENSP00000373937:p.Thr573Met					PRTG_uc002adh.2_Missense_Mutation_p.T75M	p.T573M	NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN		all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)	10	1766	-			573			Fibronectin type-III 2.			Missense_Mutation	SNP	ENST00000389286.4	37	c.1718C>T	CCDS42040.1	.	.	.	.	.	.	.	.	.	.	G	9.502	1.103362	0.20632	0.0	1.22E-4	ENSG00000166450	ENST00000389286	T	0.60797	0.16	4.92	-1.58	0.08479	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.637405	0.15570	N	0.255475	T	0.42177	0.1191	L	0.31371	0.925	0.09310	N	1	P	0.41643	0.758	B	0.40375	0.327	T	0.36040	-0.9764	10	0.48119	T	0.1	0.0407	10.2765	0.43512	0.444:0.0:0.556:0.0	.	573	Q2VWP7	PRTG_HUMAN	M	573	ENSP00000373937:T573M	ENSP00000373937:T573M	T	-	2	0	PRTG	53752995	0.000000	0.05858	0.060000	0.19600	0.473000	0.32948	0.295000	0.19065	-0.246000	0.09611	-0.136000	0.14681	ACG		0.537	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814		39	20	0	0	0	0	39	20				
IL16	3603	broad.mit.edu	37	15	81585276	81585276	+	Silent	SNP	A	A	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr15:81585276A>T	ENST00000302987.4	+	11	1800	c.1800A>T	c.(1798-1800)ccA>ccT	p.P600P	IL16_ENST00000394660.2_Silent_p.P600P			Q14005	IL16_HUMAN	interleukin 16	600					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CCAAGCCTCCACCCAGAAAAT	0.547																																						uc002bgh.3		NA																	0				ovary(2)|lung(1)|skin(1)	4						c.(1798-1800)CCA>CCT		interleukin 16 isoform 2							41.0	44.0	43.0					15																	81585276		1864	4117	5981	SO:0001819	synonymous_variant	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81585276A>T	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.1800A>T	15.37:g.81585276A>T						IL16_uc002bgc.2_RNA|IL16_uc010blq.1_Intron|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Silent_p.P642P|IL16_uc002bgg.2_Silent_p.P600P|IL16_uc002bgi.1_5'UTR|IL16_uc002bgj.2_Silent_p.P94P|IL16_uc002bgk.2_5'Flank	p.P600P	NM_172217	NP_757366	Q14005	IL16_HUMAN			12	2176	+			600					A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Silent	SNP	ENST00000302987.4	37	c.1800A>T	CCDS42069.1																																																																																				0.547	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		9	11	0	0	0	0	9	11				
RPUSD1	113000	broad.mit.edu	37	16	836037	836037	+	Silent	SNP	T	T	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr16:836037T>A	ENST00000561734.1	-	5	1095	c.852A>T	c.(850-852)ccA>ccT	p.P284P	CHTF18_ENST00000262315.9_5'Flank|RPUSD1_ENST00000565809.1_3'UTR|RPUSD1_ENST00000007264.2_Silent_p.P284P|CHTF18_ENST00000455171.2_5'Flank|MSLNL_ENST00000442466.1_5'Flank|RPUSD1_ENST00000567114.1_Silent_p.P155P|CHTF18_ENST00000317063.6_5'Flank			Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing 1	284	Pro-rich.				pseudouridine synthesis (GO:0001522)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				TGGTTGGGGGTGGAGGAGGCC	0.731																																						uc002cka.2		NA																	0					0						c.(850-852)CCA>CCT		RNA pseudouridylate synthase domain containing							6.0	8.0	7.0					16																	836037		2081	4099	6180	SO:0001819	synonymous_variant	113000				pseudouridine synthesis		pseudouridine synthase activity|RNA binding	g.chr16:836037T>A	AE006465	CCDS10426.1	16p13.3	2013-02-11	2005-01-31	2005-01-31	ENSG00000007376	ENSG00000007376		"""RNA pseudouridylate synthase domain containing"""	14173	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 40"""	C16orf40			Standard	NM_058192		Approved	RLUCL, MGC19600	uc002ckb.3	Q9UJJ7	OTTHUMG00000047840	ENST00000561734.1:c.852A>T	16.37:g.836037T>A						RPUSD1_uc002ckb.2_Silent_p.P284P|RPUSD1_uc002ckc.2_Silent_p.P155P|RPUSD1_uc002ckd.2_3'UTR|CHTF18_uc010uus.1_5'Flank|CHTF18_uc010bre.1_5'Flank|CHTF18_uc002cke.3_5'Flank|CHTF18_uc002ckf.3_5'Flank|CHTF18_uc010brf.2_5'Flank|CHTF18_uc002ckg.3_5'Flank	p.P284P	NM_058192	NP_478072	Q9UJJ7	RUSD1_HUMAN			5	1086	-		Hepatocellular(780;0.00335)	284			Pro-rich.		D3DU66	Silent	SNP	ENST00000561734.1	37	c.852A>T	CCDS10426.1																																																																																				0.731	RPUSD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420620.1	NM_058192		3	6	0	0	0	0	3	6				
SLC12A3	6559	broad.mit.edu	37	16	56914084	56914084	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr16:56914084G>A	ENST00000563236.1	+	12	1511	c.1486G>A	c.(1486-1488)Ggc>Agc	p.G496S	SLC12A3_ENST00000438926.2_Missense_Mutation_p.G496S|SLC12A3_ENST00000566786.1_Missense_Mutation_p.G495S|SLC12A3_ENST00000262502.5_Missense_Mutation_p.G495S			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	496			G -> C (in GS). {ECO:0000269|PubMed:8528245, ECO:0000269|PubMed:8900229}.		chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CGGCTTCTTCGGCAAAGGCTA	0.612																																						uc010ccm.2		NA																	0				ovary(2)|breast(1)	3	GRCh37	CM961291	SLC12A3	M		c.(1486-1488)GGC>AGC		solute carrier family 12, member 3 isoform 3	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)						47.0	38.0	41.0					16																	56914084		2198	4300	6498	SO:0001583	missense	6559				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	g.chr16:56914084G>A		CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.1486G>A	16.37:g.56914084G>A	ENSP00000456149:p.Gly496Ser					SLC12A3_uc002ekd.3_Missense_Mutation_p.G496S|SLC12A3_uc010ccn.2_Missense_Mutation_p.G495S	p.G496S	NM_001126108	NP_001119580	P55017	S12A3_HUMAN			12	1515	+			496		G -> C (in GS).	Cytoplasmic (Potential).		A8MSJ2|C9JNN9	Missense_Mutation	SNP	ENST00000563236.1	37	c.1486G>A	CCDS58464.1	.	.	.	.	.	.	.	.	.	.	G	20.0	3.930949	0.73327	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	.	.	.	4.56	4.56	0.56223	Amino acid permease domain (1);	0.103397	0.64402	D	0.000003	T	0.73606	0.3608	L	0.52573	1.65	0.80722	D	1	D;D;D	0.89917	0.965;1.0;1.0	B;D;D	0.73380	0.411;0.98;0.967	T	0.71652	-0.4528	9	0.33141	T	0.24	.	17.5188	0.87781	0.0:0.0:1.0:0.0	.	495;496;496	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	S	495;496	.	ENSP00000262502:G496S	G	+	1	0	SLC12A3	55471585	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.475000	0.97721	2.359000	0.80004	0.561000	0.74099	GGC		0.612	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1			5	8	0	0	0	0	5	8				
HP	3240	broad.mit.edu	37	16	72094648	72094648	+	Silent	SNP	C	C	T	rs531798346		TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr16:72094648C>T	ENST00000355906.5	+	7	1138	c.1080C>T	c.(1078-1080)gcC>gcT	p.A360A	HP_ENST00000570083.1_Silent_p.A301A|HP_ENST00000398131.2_Silent_p.A301A|HP_ENST00000565574.1_Silent_p.A301A|HPR_ENST00000540303.2_5'Flank|HP_ENST00000562526.1_3'UTR|HPR_ENST00000356967.5_Intron|HP_ENST00000357763.4_Silent_p.A396A|HPR_ENST00000561690.1_5'Flank	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN	haptoglobin	360	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acute-phase response (GO:0006953)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|immune system process (GO:0002376)|negative regulation of hydrogen peroxide catabolic process (GO:2000296)|negative regulation of oxidoreductase activity (GO:0051354)|positive regulation of cell death (GO:0010942)|response to hydrogen peroxide (GO:0042542)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838)	antioxidant activity (GO:0016209)|hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		GTGCCTTTGCCGTTCACGACC	0.522													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22330	0.0		0.0	False		,,,				2504	0.0					uc002fbr.3		NA																	0					0						c.(1078-1080)GCC>GCT		haptoglobin isoform 1 preproprotein							183.0	181.0	182.0					16																	72094648		2118	4228	6346	SO:0001819	synonymous_variant	3240				cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity	g.chr16:72094648C>T		CCDS45524.1, CCDS45525.1	16q22.2	2012-10-02			ENSG00000257017	ENSG00000257017			5141	protein-coding gene	gene with protein product		140100				11109501, 9352226	Standard	NM_005143		Approved		uc002fbr.4	P00738		ENST00000355906.5:c.1080C>T	16.37:g.72094648C>T						TXNL4B_uc010cgl.2_Intron|HP_uc010cgm.2_Silent_p.A301A|HP_uc002fbt.3_Silent_p.A301A|HP_uc002fbu.1_Silent_p.A98A|HP_uc002fbv.3_Silent_p.A271A|HP_uc002fbw.3_Silent_p.A182A|HP_uc002fbx.3_Silent_p.A182A|HPR_uc002fby.2_5'Flank	p.A360A	NM_005143	NP_005134	P00738	HPT_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)	7	1124	+		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)	360			Peptidase S1.		B0AZL5|P00737|Q0VAC4|Q0VAC5|Q2PP15|Q3B7J0|Q6LBY9|Q9UC67	Silent	SNP	ENST00000355906.5	37	c.1080C>T	CCDS45524.1																																																																																				0.522	HP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421680.1	NM_005143		20	69	0	0	0	0	20	69				
TP53	7157	broad.mit.edu	37	17	7577144	7577144	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr17:7577144A>C	ENST00000269305.4	-	8	983	c.794T>G	c.(793-795)cTg>cGg	p.L265R	TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.L265R|TP53_ENST00000359597.4_Missense_Mutation_p.L265R|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.L265R|TP53_ENST00000455263.2_Missense_Mutation_p.L265R	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	265	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		L -> M (in sporadic cancers; somatic mutation).|L -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|L -> Q (in sporadic cancers; somatic mutation).|L -> R (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.L265P(15)|p.0?(8)|p.L265R(5)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G262_S269delGNLLGRNS(2)|p.N263fs*5(1)|p.L265del(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.L265Q(1)|p.G262fs*2(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)	GTTCCGTCCCAGTAGATTACC	0.522		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		42	Substitution - Missense(21)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(3)|Deletion - Frameshift(3)	p.L265P(14)|p.0?(7)|p.L265M(4)|p.L265R(3)|p.L265fs*80(3)|p.?(3)|p.L265L(3)|p.G262_F270delGNLLGRNSF(2)|p.L265del(2)|p.G262_S269delGNLLGRNS(2)|p.L265Q(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.L265fs*81(1)|p.G262fs*2(1)	large_intestine(6)|lung(5)|oesophagus(5)|breast(4)|bone(4)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(3)|ovary(3)|upper_aerodigestive_tract(2)|stomach(2)|urinary_tract(2)|small_intestine(1)|skin(1)|eye(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CD004355|CM971505	TP53	D|M		c.(793-795)CTG>CGG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							46.0	41.0	43.0					17																	7577144		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.chr17:7577144A>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.794T>G	17.37:g.7577144A>C	ENSP00000269305:p.Leu265Arg	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.L265R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.L133R|TP53_uc010cng.1_Missense_Mutation_p.L133R|TP53_uc002gii.1_Missense_Mutation_p.L133R|TP53_uc010cnh.1_Missense_Mutation_p.L265R|TP53_uc010cni.1_Missense_Mutation_p.L265R|TP53_uc002gij.2_Missense_Mutation_p.L265R	p.L265R	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	988	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	265		L -> M (in sporadic cancers; somatic mutation).|L -> Q (in sporadic cancers; somatic mutation).|L -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.794T>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	19.55	3.848055	0.71603	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99876	-7.41;-7.41;-7.41;-7.41;-7.41;-7.41	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.64402	D	0.000001	D	0.99871	0.9939	M	0.91920	3.255	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.997;1.0;1.0	D	0.96405	0.9300	10	0.87932	D	0	-15.8832	12.9367	0.58319	1.0:0.0:0.0:0.0	.	265;265;265;265	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	R	265;265;265;265;265;254;133	ENSP00000352610:L265R;ENSP00000269305:L265R;ENSP00000398846:L265R;ENSP00000391127:L265R;ENSP00000391478:L265R;ENSP00000425104:L133R	ENSP00000269305:L265R	L	-	2	0	TP53	7517869	1.000000	0.71417	0.999000	0.59377	0.528000	0.34623	9.060000	0.93907	2.154000	0.67381	0.379000	0.24179	CTG		0.522	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		15	8	0	0	0	0	15	8				
PIK3R5	23533	broad.mit.edu	37	17	8812417	8812417	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr17:8812417C>A	ENST00000447110.1	-	3	302	c.178G>T	c.(178-180)Gag>Tag	p.E60*	PIK3R5_ENST00000581552.1_Nonsense_Mutation_p.E60*|PIK3R5_ENST00000584803.1_Nonsense_Mutation_p.E60*	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	60	Heterodimerization. {ECO:0000250}.				blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						AGGATCTGCTCAAGGAGGATA	0.592																																					NSCLC(18;589 615 7696 20311 50332)	uc002glt.2		NA																	0				breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(178-180)GAG>TAG		phosphoinositide-3-kinase, regulatory subunit 5							38.0	32.0	34.0					17																	8812417		2203	4300	6503	SO:0001587	stop_gained	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8812417C>A	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.178G>T	17.37:g.8812417C>A	ENSP00000392812:p.Glu60*					PIK3R5_uc010vuz.1_Nonsense_Mutation_p.E60*|PIK3R5_uc002glu.3_5'UTR|PIK3R5_uc010coa.1_Nonsense_Mutation_p.E60*|PIK3R5_uc010cob.1_5'UTR	p.E60*	NM_014308	NP_055123	Q8WYR1	PI3R5_HUMAN			3	245	-			60			Heterodimerization (By similarity).		B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Nonsense_Mutation	SNP	ENST00000447110.1	37	c.178G>T	CCDS11147.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643620	0.87859	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	.	.	.	5.22	5.22	0.72569	.	0.239304	0.42053	D	0.000769	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-18.2809	16.9184	0.86157	0.0:1.0:0.0:0.0	.	.	.	.	X	60	.	ENSP00000269300:E60X	E	-	1	0	PIK3R5	8753142	1.000000	0.71417	0.992000	0.48379	0.999000	0.98932	4.561000	0.60809	2.597000	0.87782	0.650000	0.86243	GAG		0.592	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		4	5	1	0	5.94e-07	6.57e-07	4	5				
MYH8	4626	broad.mit.edu	37	17	10304048	10304048	+	Silent	SNP	G	G	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr17:10304048G>T	ENST00000403437.2	-	27	3488	c.3394C>A	c.(3394-3396)Cga>Aga	p.R1132R	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1132					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GCTTTGGCTCGGGACGCCCTC	0.557									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													uc002gmm.2		NA																	0		p.R1132R(1)		skin(6)|ovary(3)|breast(2)	11						c.(3394-3396)CGA>AGA		myosin, heavy chain 8, skeletal muscle,							48.0	54.0	52.0					17																	10304048		2203	4300	6503	SO:0001819	synonymous_variant	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10304048G>T		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.3394C>A	17.37:g.10304048G>T						uc002gml.1_Intron	p.R1132R	NM_002472	NP_002463	P13535	MYH8_HUMAN			27	3489	-			1132			Potential.		Q14910	Silent	SNP	ENST00000403437.2	37	c.3394C>A	CCDS11153.1																																																																																				0.557	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		6	51	1	0	0.00198382	0.00209976	6	51				
MYH4	4622	broad.mit.edu	37	17	10360801	10360801	+	Silent	SNP	C	C	A	rs577534095		TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr17:10360801C>A	ENST00000255381.2	-	16	1943	c.1833G>T	c.(1831-1833)ctG>ctT	p.L611L	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	611	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						ACTTCTGGTACAGCCCCACCA	0.507																																						uc002gmn.2		NA																	0				ovary(10)|skin(2)|central_nervous_system(1)	13						c.(1831-1833)CTG>CTT		myosin, heavy polypeptide 4, skeletal muscle							85.0	83.0	84.0					17																	10360801		2203	4300	6503	SO:0001819	synonymous_variant	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10360801C>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.1833G>T	17.37:g.10360801C>A						uc002gml.1_Intron	p.L611L	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			16	1944	-			611			Myosin head-like.			Silent	SNP	ENST00000255381.2	37	c.1833G>T	CCDS11154.1																																																																																				0.507	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		25	33	1	0	1.18e-14	1.39e-14	25	33				
TEKT3	64518	broad.mit.edu	37	17	15231309	15231309	+	Splice_Site	SNP	C	C	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr17:15231309C>A	ENST00000395930.1	-	4	849	c.663G>T	c.(661-663)acG>acT	p.T221T	TEKT3_ENST00000338696.2_Splice_Site_p.T221T	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	221					cilium morphogenesis (GO:0060271)|regulation of fertilization (GO:0080154)|sperm motility (GO:0030317)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		CCACATTTACCGTCAGCAGTT	0.388																																						uc002gon.2		NA																	0				ovary(2)	2						c.(661-663)ACG>ACT		tektin 3							216.0	166.0	183.0					17																	15231309		2203	4300	6503	SO:0001630	splice_region_variant	64518				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr17:15231309C>A	AF334676	CCDS11169.1	17p12	2011-05-23			ENSG00000125409	ENSG00000125409			14293	protein-coding gene	gene with protein product		612683				11381029, 14735490	Standard	NM_031898		Approved	FLJ32828	uc002gon.3	Q9BXF9	OTTHUMG00000058965	ENST00000395930.1:c.663+1G>T	17.37:g.15231309C>A							p.T221T	NM_031898	NP_114104	Q9BXF9	TEKT3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)	4	850	-			221					B2RAS7|D3DTT0|Q8N5R5|Q96M48	Silent	SNP	ENST00000395930.1	37	c.663G>T	CCDS11169.1																																																																																				0.388	TEKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130385.2	NM_031898	Silent	127	72	1	0	3.47e-60	4.21e-60	127	72				
TRIM16	10626	broad.mit.edu	37	17	15532098	15532098	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr17:15532098T>C	ENST00000578237.1	-	11	2381	c.1526A>G	c.(1525-1527)tAt>tGt	p.Y509C	TRIM16_ENST00000577886.1_Missense_Mutation_p.Y293C|RP11-385D13.1_ENST00000455584.2_Intron|TRIM16_ENST00000416464.2_Missense_Mutation_p.Y379C|TRIM16_ENST00000336708.7_Missense_Mutation_p.Y509C|TRIM16_ENST00000579219.1_3'UTR			O95361	TRI16_HUMAN	tripartite motif containing 16	509	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription, DNA-templated (GO:0045893)|response to growth hormone (GO:0060416)|response to organophosphorus (GO:0046683)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|PML body (GO:0016605)	DNA binding (GO:0003677)|interleukin-1 binding (GO:0019966)|NACHT domain binding (GO:0032089)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		CTCTACGCCATAGAAGGAAAG	0.517																																						uc002gox.2		NA																	0				ovary(2)|skin(1)	3						c.(1525-1527)TAT>TGT		tripartite motif-containing 16							80.0	79.0	80.0					17																	15532098		2203	4300	6503	SO:0001583	missense	10626				histone H3 acetylation|histone H4 acetylation|positive regulation of interleukin-1 beta secretion|positive regulation of keratinocyte differentiation|positive regulation of retinoic acid receptor signaling pathway|positive regulation of transcription, DNA-dependent|response to growth hormone stimulus|response to organophosphorus|response to retinoic acid	cytoplasm|plasma membrane|PML body	DNA binding|interleukin-1 binding|NACHT domain binding|zinc ion binding	g.chr17:15532098T>C	AF096870	CCDS11171.1	17p11.2	2011-04-20	2011-01-25		ENSG00000221926	ENSG00000221926		"""Tripartite motif containing / Tripartite motif containing"""	17241	protein-coding gene	gene with protein product	"""estrogen-responsive B box protein"""	609505	"""tripartite motif-containing 16"""			11331580	Standard	NM_006470		Approved	EBBP	uc002gor.1	O95361	OTTHUMG00000059067	ENST00000578237.1:c.1526A>G	17.37:g.15532098T>C	ENSP00000463188:p.Tyr509Cys					TRIM16_uc002gor.1_Intron|TRIM16_uc002gow.2_Missense_Mutation_p.Y293C|TRIM16_uc002goy.2_Missense_Mutation_p.Y379C	p.Y509C	NM_006470	NP_006461	O95361	TRI16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)	9	2083	-			509			B30.2/SPRY.		Q6IAL8|Q7Z6I2|Q96BE8|Q96J43	Missense_Mutation	SNP	ENST00000578237.1	37	c.1526A>G	CCDS11171.1	.	.	.	.	.	.	.	.	.	.	.	14.52	2.558927	0.45590	.	.	ENSG00000221926	ENST00000336708;ENST00000416464	T;T	0.70045	-0.45;-0.45	4.72	3.61	0.41365	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	D	0.83036	0.5167	M	0.90977	3.165	0.40512	D	0.980744	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84316	0.0513	9	0.87932	D	0	.	9.0812	0.36554	0.1644:0.0:0.0:0.8356	.	379;509	B3KP96;O95361	.;TRI16_HUMAN	C	509;379	ENSP00000338989:Y509C;ENSP00000399918:Y379C	ENSP00000338989:Y509C	Y	-	2	0	TRIM16	15472823	1.000000	0.71417	0.967000	0.41034	0.320000	0.28249	4.549000	0.60726	0.737000	0.32582	0.528000	0.53228	TAT		0.517	TRIM16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130700.2	NM_006470		27	158	0	0	0	0	27	158				
RFFL	117584	broad.mit.edu	37	17	33338994	33338994	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr17:33338994C>T	ENST00000315249.7	-	7	1307	c.1085G>A	c.(1084-1086)cGg>cAg	p.R362Q	RFFL_ENST00000268850.7_Missense_Mutation_p.R326Q|RFFL_ENST00000413582.2_Missense_Mutation_p.R354Q|RFFL_ENST00000415395.2_Missense_Mutation_p.R362Q|RP5-837J1.2_ENST00000578488.1_RNA|RAD51L3-RFFL_ENST00000593039.1_Missense_Mutation_p.R271Q|RFFL_ENST00000584655.1_Missense_Mutation_p.R326Q|RFFL_ENST00000394597.2_Missense_Mutation_p.R362Q|RFFL_ENST00000378516.2_Missense_Mutation_p.R354Q|RFFL_ENST00000447669.2_Missense_Mutation_p.R362Q					ring finger and FYVE-like domain containing E3 ubiquitin protein ligase											kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		CTCTCAGGACCGGAAGACATG	0.547																																						uc002hin.1		NA																	0					0						c.(1084-1086)CGG>CAG		rififylin							107.0	91.0	96.0					17																	33338994		2203	4300	6503	SO:0001583	missense	117584				apoptosis	membrane	ligase activity|zinc ion binding	g.chr17:33338994C>T	AF434816	CCDS11286.1	17q12	2012-02-23	2012-02-23		ENSG00000092871	ENSG00000092871		"""RING-type (C3HC4) zinc fingers"""	24821	protein-coding gene	gene with protein product		609735	"""ring finger and FYVE-like domain containing"""			15229288	Standard	NR_037713		Approved	rififylin, fring, RNF189, RNF34L	uc002hin.1	Q8WZ73	OTTHUMG00000132933	ENST00000315249.7:c.1085G>A	17.37:g.33338994C>T	ENSP00000326170:p.Arg362Gln					RFFL_uc002hiq.2_Missense_Mutation_p.R271Q|RFFL_uc002him.1_Missense_Mutation_p.R354Q|RFFL_uc010cti.1_Missense_Mutation_p.R368Q|RFFL_uc002hip.1_Missense_Mutation_p.R326Q|RFFL_uc002hio.1_Missense_Mutation_p.R362Q	p.R362Q	NM_001017368	NP_001017368	Q8WZ73	RFFL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	7	1258	-		Ovarian(249;0.17)	362						Missense_Mutation	SNP	ENST00000315249.7	37	c.1085G>A	CCDS11286.1	.	.	.	.	.	.	.	.	.	.	C	35	5.426604	0.96131	.	.	ENSG00000092871	ENST00000315249;ENST00000394597;ENST00000378516;ENST00000268850	T;T;T;T	0.50001	0.76;0.76;0.76;0.79	5.64	5.64	0.86602	.	0.054516	0.64402	D	0.000002	T	0.55752	0.1940	L	0.27944	0.81	0.58432	D	0.999998	D;D;P	0.76494	0.999;0.999;0.948	D;P;B	0.77557	0.99;0.856;0.325	T	0.56872	-0.7907	10	0.72032	D	0.01	-14.5217	14.1102	0.65118	0.0:0.9266:0.0:0.0734	.	326;362;354	Q8WZ73-3;Q8WZ73;Q8WZ73-2	.;RFFL_HUMAN;.	Q	362;362;354;326	ENSP00000326170:R362Q;ENSP00000378096:R362Q;ENSP00000367777:R354Q;ENSP00000268850:R326Q	ENSP00000268850:R326Q	R	-	2	0	RFFL	30363107	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.123000	0.50453	2.937000	0.99478	0.650000	0.86243	CGG		0.547	RFFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256460.2	NM_057178		8	24	0	0	0	0	8	24				
KCNH4	23415	broad.mit.edu	37	17	40322268	40322268	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr17:40322268G>A	ENST00000264661.3	-	8	1579	c.1247C>T	c.(1246-1248)tCg>tTg	p.S416L	KCNH4_ENST00000607371.1_Missense_Mutation_p.S416L	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	416					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GCCGCCCACCGAGCCATTGAC	0.632																																					NSCLC(117;707 1703 2300 21308 31858)	uc002hzb.2		NA																	0				large_intestine(1)	1						c.(1246-1248)TCG>TTG		potassium voltage-gated channel, subfamily H,							45.0	37.0	40.0					17																	40322268		2203	4300	6503	SO:0001583	missense	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40322268G>A	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.1247C>T	17.37:g.40322268G>A	ENSP00000264661:p.Ser416Leu						p.S416L	NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	8	1580	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	416			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000264661.3	37	c.1247C>T	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.828819	0.50845	.	.	ENSG00000089558	ENST00000264661	D	0.98493	-4.96	3.96	3.96	0.45880	Ion transport (1);	0.000000	0.31797	N	0.007057	D	0.94663	0.8279	N	0.13235	0.315	0.48452	D	0.999657	B	0.18310	0.027	B	0.14578	0.011	D	0.92189	0.5758	10	0.45353	T	0.12	.	16.5324	0.84365	0.0:0.0:1.0:0.0	.	416	Q9UQ05	KCNH4_HUMAN	L	416	ENSP00000264661:S416L	ENSP00000264661:S416L	S	-	2	0	KCNH4	37575794	1.000000	0.71417	0.979000	0.43373	0.427000	0.31564	6.324000	0.72896	2.195000	0.70347	0.313000	0.20887	TCG		0.632	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		9	8	0	0	0	0	9	8				
NGFR	4804	broad.mit.edu	37	17	47590198	47590198	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr17:47590198G>A	ENST00000172229.3	+	6	1236	c.1111G>A	c.(1111-1113)Gag>Aag	p.E371K	NGFR_ENST00000504201.1_Missense_Mutation_p.E277K|RP5-1029K10.2_ENST00000514506.1_RNA	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	371	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|detection of temperature stimulus (GO:0016048)|glucose homeostasis (GO:0042593)|hair follicle morphogenesis (GO:0031069)|intracellular protein transport (GO:0006886)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell cycle (GO:0045786)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of hair follicle development (GO:0051799)|nerve development (GO:0021675)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of axonogenesis (GO:0050772)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cell surface (GO:0009986)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	death receptor activity (GO:0005035)|Rab GTPase binding (GO:0017137)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					CTACCAGCCCGAGCACATAGA	0.697																																						uc002ioz.3		NA																	0				ovary(1)|lung(1)	2						c.(1111-1113)GAG>AAG		nerve growth factor receptor precursor							42.0	48.0	46.0					17																	47590198		2203	4299	6502	SO:0001583	missense	4804				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm		g.chr17:47590198G>A	M14764	CCDS11549.1	17q21-q22	2013-05-22	2010-04-28		ENSG00000064300	ENSG00000064300		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	7809	protein-coding gene	gene with protein product	"""low affinity nerve growth factor receptor"", ""TNFR superfamily, member 16"""	162010	"""nerve growth factor receptor (TNFR superfamily, member 16)"""			3022937, 3006050	Standard	NM_002507		Approved	TNFRSF16, CD271, p75NTR	uc002ioz.4	P08138	OTTHUMG00000161495	ENST00000172229.3:c.1111G>A	17.37:g.47590198G>A	ENSP00000172229:p.Glu371Lys						p.E371K	NM_002507	NP_002498	P08138	TNR16_HUMAN			6	1236	+	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)		371			Cytoplasmic (Potential).|Death.		B2R961|B4E096	Missense_Mutation	SNP	ENST00000172229.3	37	c.1111G>A	CCDS11549.1	.	.	.	.	.	.	.	.	.	.	G	35	5.591687	0.96590	.	.	ENSG00000064300	ENST00000172229;ENST00000504201	D;D	0.85629	-2.01;-2.01	4.32	4.32	0.51571	Death (3);DEATH-like (2);	0.313752	0.29410	N	0.012230	D	0.88119	0.6351	M	0.64997	1.995	0.58432	D	0.999996	D	0.61080	0.989	P	0.54401	0.751	D	0.87937	0.2714	10	0.40728	T	0.16	-25.1672	15.7498	0.77976	0.0:0.0:1.0:0.0	.	371	P08138	TNR16_HUMAN	K	371;277	ENSP00000172229:E371K;ENSP00000421731:E277K	ENSP00000172229:E371K	E	+	1	0	NGFR	44945197	1.000000	0.71417	0.933000	0.37362	0.994000	0.84299	7.548000	0.82154	2.233000	0.73108	0.561000	0.74099	GAG		0.697	NGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365150.1			31	64	0	0	0	0	31	64				
SMG8	55181	broad.mit.edu	37	17	57292263	57292263	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr17:57292263C>G	ENST00000543872.2	+	5	3140	c.2876C>G	c.(2875-2877)gCa>gGa	p.A959G	CTD-2510F5.6_ENST00000577660.1_Missense_Mutation_p.A78G|SMG8_ENST00000300917.5_Missense_Mutation_p.A959G			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	959					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						TTTCCTTATGCATATGTGACT	0.473																																						uc002ixi.2		NA																	0					0						c.(2875-2877)GCA>GGA		SMG8 protein							139.0	123.0	128.0					17																	57292263		2203	4300	6503	SO:0001583	missense	55181				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding	g.chr17:57292263C>G	AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"""chromosome 17 open reading frame 71"", ""smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.2876C>G	17.37:g.57292263C>G	ENSP00000438748:p.Ala959Gly						p.A959G	NM_018149	NP_060619	Q8ND04	SMG8_HUMAN			4	2918	+	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)		959					Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Missense_Mutation	SNP	ENST00000543872.2	37	c.2876C>G	CCDS11615.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.009959	0.75046	.	.	ENSG00000167447	ENST00000300917;ENST00000543872	T;T	0.44083	0.93;0.93	5.73	5.73	0.89815	.	0.095987	0.64402	D	0.000001	T	0.42449	0.1203	L	0.43152	1.355	0.58432	D	0.999994	B	0.33345	0.409	B	0.36244	0.22	T	0.27536	-1.0071	10	0.48119	T	0.1	-14.5977	18.8899	0.92395	0.0:1.0:0.0:0.0	.	959	Q8ND04	SMG8_HUMAN	G	959	ENSP00000300917:A959G;ENSP00000438748:A959G	ENSP00000300917:A959G	A	+	2	0	SMG8	54647045	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	7.267000	0.78462	2.707000	0.92482	0.561000	0.74099	GCA		0.473	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445960.2	NM_018149		32	48	0	0	0	0	32	48				
AXIN2	8313	broad.mit.edu	37	17	63532996	63532996	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr17:63532996T>A	ENST00000307078.5	-	7	2211	c.1898A>T	c.(1897-1899)aAg>aTg	p.K633M	AXIN2_ENST00000375702.5_Intron	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	633				Missing (in Ref. 2; AAF22799). {ECO:0000305}.	bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						CCTATGGGGCTTGGGCTTGCT	0.652									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																													uc002jfi.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1897-1899)AAG>ATG		axin 2							87.0	83.0	84.0					17																	63532996		2203	4300	6503	SO:0001583	missense	8313	Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr17:63532996T>A	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"""conductin"", ""axil"""	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000307078.5:c.1898A>T	17.37:g.63532996T>A	ENSP00000302625:p.Lys633Met					AXIN2_uc002jfh.2_Intron	p.K633M	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN			7	2187	-			633	Missing (in Ref. 2; AAF22799).				Q3MJ88|Q9H3M6|Q9UH84	Missense_Mutation	SNP	ENST00000307078.5	37	c.1898A>T	CCDS11662.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.205249	0.79127	.	.	ENSG00000168646	ENST00000307078	T	0.66638	-0.22	5.24	4.17	0.49024	.	0.278542	0.40640	N	0.001042	T	0.74703	0.3751	L	0.53249	1.67	0.80722	D	1	D	0.76494	0.999	D	0.66979	0.948	T	0.74191	-0.3745	10	0.54805	T	0.06	-14.4334	10.3406	0.43875	0.0:0.0779:0.0:0.9221	.	633	Q9Y2T1	AXIN2_HUMAN	M	633	ENSP00000302625:K633M	ENSP00000302625:K633M	K	-	2	0	AXIN2	60963458	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.089000	0.50183	0.840000	0.34995	0.459000	0.35465	AAG		0.652	AXIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445900.1	NM_004655		37	107	0	0	0	0	37	107				
ITGB4	3691	broad.mit.edu	37	17	73751849	73751849	+	Silent	SNP	A	A	C			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr17:73751849A>C	ENST00000200181.3	+	35	4813	c.4626A>C	c.(4624-4626)acA>acC	p.T1542T	ITGB4_ENST00000339591.3_Silent_p.T1525T|ITGB4_ENST00000450894.3_Silent_p.T1472T|ITGB4_ENST00000449880.2_Silent_p.T1525T|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000579662.1_Silent_p.T1472T	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1542	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGGGGCCCACATCTCTCAGAG	0.677																																						uc002jpg.2		NA																	0				lung(4)	4						c.(4624-4626)ACA>ACC		integrin beta 4 isoform 1 precursor							35.0	38.0	37.0					17																	73751849		2202	4299	6501	SO:0001819	synonymous_variant	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73751849A>C		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.4626A>C	17.37:g.73751849A>C						ITGB4_uc002jph.2_Silent_p.T1472T|ITGB4_uc002jpi.3_Silent_p.T1472T|ITGB4_uc002jpj.2_Silent_p.T1525T|GALK1_uc010wsi.1_Intron	p.T1542T	NM_000213	NP_000204	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		35	4813	+	all_cancers(13;1.5e-07)		1542			Cytoplasmic (Potential).|Fibronectin type-III 3.		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Silent	SNP	ENST00000200181.3	37	c.4626A>C	CCDS11727.1																																																																																				0.677	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			10	44	0	0	0	0	10	44				
LGALS3BP	3959	broad.mit.edu	37	17	76967771	76967771	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr17:76967771C>T	ENST00000262776.3	-	6	1953	c.1645G>A	c.(1645-1647)Gac>Aac	p.D549N	LGALS3BP_ENST00000591778.1_3'UTR	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	549					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CTGTTGGTGTCCAGGGCACTG	0.607											OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(89;1105 1755 18102 21513)	uc002jwh.2		NA																	0				central_nervous_system(3)|ovary(1)	4						c.(1645-1647)GAC>AAC		galectin 3 binding protein							72.0	67.0	69.0					17																	76967771		2203	4300	6503	SO:0001583	missense	3959				cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity	g.chr17:76967771C>T	L13210	CCDS11759.1	17q25	2014-07-09				ENSG00000108679		"""BTB/POZ domain containing"", ""Endogenous ligands"""	6564	protein-coding gene	gene with protein product	"""L3 antigen"", ""Mac-2-binding protein"", ""serum protein 90K"", ""transport and golgi organization 10 homolog B (Drosophila)"""	600626				7698018, 8034587, 8390986	Standard	NM_005567		Approved	MAC-2-BP, 90K, BTBD17B, TANGO10B, M2BP, gp90, CyCAP	uc002jwh.3	Q08380		ENST00000262776.3:c.1645G>A	17.37:g.76967771C>T	ENSP00000262776:p.Asp549Asn		OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1172	LGALS3BP_uc002jwi.2_Missense_Mutation_p.D355N|LGALS3BP_uc010dhr.2_Missense_Mutation_p.D355N	p.D549N	NM_005567	NP_005558	Q08380	LG3BP_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)		6	1824	-			549					Q7M4S0|Q9UCH8|Q9UCH9|Q9UCI0	Missense_Mutation	SNP	ENST00000262776.3	37	c.1645G>A	CCDS11759.1	.	.	.	.	.	.	.	.	.	.	C	9.464	1.093943	0.20471	.	.	ENSG00000108679	ENST00000262776;ENST00000536190	T	0.01538	4.79	3.42	0.00794	0.14073	.	1.574880	0.04196	N	0.329227	T	0.02119	0.0066	L	0.38175	1.15	0.09310	N	0.999999	B	0.15141	0.012	B	0.08055	0.003	T	0.47114	-0.9142	10	0.54805	T	0.06	-3.6929	5.2019	0.15269	0.0:0.4833:0.0:0.5167	.	549	Q08380	LG3BP_HUMAN	N	549;537	ENSP00000262776:D549N	ENSP00000262776:D549N	D	-	1	0	LGALS3BP	74479366	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-1.570000	0.02140	0.028000	0.15324	0.491000	0.48974	GAC		0.607	LGALS3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437785.3	NM_005567		20	56	0	0	0	0	20	56				
DTNA	1837	broad.mit.edu	37	18	32428278	32428278	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr18:32428278C>A	ENST00000399113.3	+	13	1284	c.1284C>A	c.(1282-1284)aaC>aaA	p.N428K	DTNA_ENST00000269190.7_Missense_Mutation_p.N429K|DTNA_ENST00000597599.1_Missense_Mutation_p.N368K|DTNA_ENST00000556414.3_Missense_Mutation_p.N80K|DTNA_ENST00000598334.1_Missense_Mutation_p.N368K|DTNA_ENST00000599844.1_Missense_Mutation_p.N50K|DTNA_ENST00000598774.1_Missense_Mutation_p.N371K|DTNA_ENST00000399097.3_Missense_Mutation_p.N76K|DTNA_ENST00000283365.9_Missense_Mutation_p.N371K|DTNA_ENST00000595022.1_Missense_Mutation_p.N368K|DTNA_ENST00000348997.5_Missense_Mutation_p.N425K|DTNA_ENST00000597674.1_Missense_Mutation_p.N50K|DTNA_ENST00000444659.1_Missense_Mutation_p.N428K|DTNA_ENST00000601125.1_Missense_Mutation_p.N50K|DTNA_ENST00000399121.5_Missense_Mutation_p.N368K|DTNA_ENST00000598142.1_Missense_Mutation_p.N371K|DTNA_ENST00000591182.1_Missense_Mutation_p.N76K|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000269192.7_Missense_Mutation_p.N137K|DTNA_ENST00000269191.6_Missense_Mutation_p.N428K			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	428	Syntrophin-binding region.				neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						AGAGTTCAAACCGGCTTGATG	0.448																																						uc010dmn.1		NA																	0					0						c.(1282-1284)AAC>AAA		dystrobrevin alpha isoform 1							106.0	98.0	100.0					18																	32428278		2203	4300	6503	SO:0001583	missense	1837				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	g.chr18:32428278C>A	U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"""dystrophin-related protein 3"""	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.1284C>A	18.37:g.32428278C>A	ENSP00000382064:p.Asn428Lys					DTNA_uc010xbx.1_Intron|DTNA_uc002kxv.3_Missense_Mutation_p.N371K|DTNA_uc002kxw.2_Missense_Mutation_p.N371K|DTNA_uc010dmj.2_Missense_Mutation_p.N368K|DTNA_uc002kxz.2_Missense_Mutation_p.N368K|DTNA_uc002kxy.2_Missense_Mutation_p.N368K|DTNA_uc010dml.2_Missense_Mutation_p.N368K|DTNA_uc002kyb.3_Missense_Mutation_p.N425K|DTNA_uc010dmm.2_Missense_Mutation_p.N428K|DTNA_uc010xby.1_Missense_Mutation_p.N118K|DTNA_uc010dmo.2_Missense_Mutation_p.N50K|DTNA_uc002kyd.3_Missense_Mutation_p.N50K|DTNA_uc010xbz.1_Missense_Mutation_p.N137K|DTNA_uc010xca.1_Missense_Mutation_p.N80K|DTNA_uc002kye.2_Missense_Mutation_p.N76K	p.N428K	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN			13	1285	+			428			Syntrophin-binding region.		A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Missense_Mutation	SNP	ENST00000399113.3	37	c.1284C>A	CCDS59311.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.710293	0.48517	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000399114;ENST00000269190;ENST00000399097;ENST00000348997;ENST00000399121;ENST00000444659;ENST00000269191;ENST00000399113;ENST00000269192;ENST00000450377;ENST00000556414	D;D;D;D;D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54	5.4	5.4	0.78164	.	0.136284	0.64402	D	0.000003	T	0.68751	0.3035	N	0.21448	0.665	0.43364	D	0.995448	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.30763	0.071;0.005;0.038;0.23;0.001;0.0;0.0;0.001;0.294;0.0;0.0;0.002;0.001;0.069	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.29862	0.096;0.015;0.02;0.098;0.003;0.012;0.001;0.003;0.108;0.013;0.001;0.001;0.003;0.023	T	0.65689	-0.6107	10	0.22706	T	0.39	-5.9842	14.4086	0.67101	0.0:0.927:0.0:0.0729	.	80;137;118;50;428;428;368;371;76;425;368;379;371;371	B4DIU8;B4DIR0;B7Z3X3;Q9Y4J8-8;Q9Y4J8;Q9Y4J8-3;A8K541;F5H5C1;Q9Y4J8-6;Q9Y4J8-4;E9PEH8;Q59GK7;Q9Y4J8-2;Q9Y4J8-5	.;.;.;.;DTNA_HUMAN;.;.;.;.;.;.;.;.;.	K	371;371;368;429;76;425;428;428;428;428;137;76;80	ENSP00000283365:N371K;ENSP00000269190:N429K;ENSP00000382048:N76K;ENSP00000336682:N425K;ENSP00000405819:N428K;ENSP00000269191:N428K;ENSP00000382064:N428K;ENSP00000269192:N137K;ENSP00000452255:N80K	ENSP00000269190:N429K	N	+	3	2	DTNA	30682276	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.359000	0.34113	2.536000	0.85505	0.655000	0.94253	AAC		0.448	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	NM_001390		19	14	1	0	4.35e-09	4.91e-09	19	14				
ADAMTSL5	339366	broad.mit.edu	37	19	1506029	1506029	+	Silent	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr19:1506029C>T	ENST00000413997.2	-	12	1430	c.1431G>A	c.(1429-1431)cgG>cgA	p.R477R	ADAMTSL5_ENST00000395467.2_3'UTR|ADAMTSL5_ENST00000590562.1_5'UTR|CTB-25B13.9_ENST00000590252.1_RNA|ADAMTSL5_ENST00000330475.4_Silent_p.R467R			Q6ZMM2	ATL5_HUMAN	ADAMTS-like 5	477	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.					extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGACAGCGCCGGGCAGTCA	0.672																																						uc002ltd.2		NA																	0					0						c.(1399-1401)CGG>CGA		ADAMTS-like 5 precursor							8.0	10.0	9.0					19																	1506029		2145	4201	6346	SO:0001819	synonymous_variant	339366					proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:1506029C>T	BC040620	CCDS12071.1	19p13.3	2008-02-05	2006-02-07	2006-02-07		ENSG00000185761			27912	protein-coding gene	gene with protein product			"""thrombospondin, type I, domain containing 6"""	THSD6			Standard	NM_213604		Approved		uc002ltd.2	Q6ZMM2		ENST00000413997.2:c.1431G>A	19.37:g.1506029C>T						ADAMTSL5_uc010dsl.2_Silent_p.R236R|ADAMTSL5_uc010xgq.1_Silent_p.R477R	p.R467R	NM_213604	NP_998769	Q6ZMM2	ATL5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	12	1845	-		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)	467			NTR.		B4DXK7|Q8IW95	Silent	SNP	ENST00000413997.2	37	c.1401G>A																																																																																					0.672	ADAMTSL5-202	KNOWN	basic	protein_coding	protein_coding		XM_294919		9	6	0	0	0	0	9	6				
MUC16	94025	broad.mit.edu	37	19	9058238	9058238	+	Silent	SNP	C	C	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr19:9058238C>A	ENST00000397910.4	-	3	29411	c.29208G>T	c.(29206-29208)acG>acT	p.T9736T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9738	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)				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						AAAGTGAGGTCGTGAGAGGTA	0.502																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(29206-29208)ACG>ACT		mucin 16							71.0	68.0	69.0					19																	9058238		1984	4157	6141	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9058238C>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.29208G>T	19.37:g.9058238C>A							p.T9736T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	29412	-			9738			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.29208G>T	CCDS54212.1																																																																																				0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		15	23	1	0	0.00244969	0.00258168	15	23				
OR7D4	125958	broad.mit.edu	37	19	9324922	9324922	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr19:9324922C>A	ENST00000308682.2	-	1	620	c.592G>T	c.(592-594)Gtc>Ttc	p.V198F		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	198						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						ACATACAAGACAATGTTATTG	0.522																																						uc002mla.1		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(592-594)GTC>TTC		olfactory receptor, family 7, subfamily D,							107.0	100.0	102.0					19																	9324922		2203	4300	6503	SO:0001583	missense	125958				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9324922C>A		CCDS32901.1	19p13.2	2013-12-17		2004-03-10	ENSG00000174667	ENSG00000174667		"""GPCR / Class A : Olfactory receptors"""	8380	protein-coding gene	gene with protein product		611538		OR7D4P			Standard	NM_001005191		Approved	hg105, OR19-B	uc002mla.2	Q8NG98	OTTHUMG00000179936	ENST00000308682.2:c.592G>T	19.37:g.9324922C>A	ENSP00000310488:p.Val198Phe						p.V198F	NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN			1	592	-			198			Helical; Name=5; (Potential).		A8CAH8|A8CAH9|A8CAI0|A8CAI1|B9EH79	Missense_Mutation	SNP	ENST00000308682.2	37	c.592G>T	CCDS32901.1	.	.	.	.	.	.	.	.	.	.	C	8.055	0.766766	0.15983	.	.	ENSG00000174667	ENST00000308682	T	0.36157	1.27	4.0	-7.23	0.01480	GPCR, rhodopsin-like superfamily (1);	2.995800	0.00741	N	0.001017	T	0.27063	0.0663	L	0.47716	1.5	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.13872	-1.0493	10	0.52906	T	0.07	.	3.2699	0.06878	0.216:0.4146:0.0713:0.2981	.	198	Q8NG98	OR7D4_HUMAN	F	198	ENSP00000310488:V198F	ENSP00000310488:V198F	V	-	1	0	OR7D4	9185922	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-5.342000	0.00130	-1.946000	0.01035	-0.436000	0.05848	GTC		0.522	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449004.1			14	85	1	0	6.32e-08	7.08e-08	14	85				
SLC44A2	57153	broad.mit.edu	37	19	10738659	10738659	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr19:10738659G>A	ENST00000335757.5	+	4	600	c.224G>A	c.(223-225)gGg>gAg	p.G75E	SLC44A2_ENST00000407327.4_Missense_Mutation_p.G73E|SLC44A2_ENST00000586078.1_Missense_Mutation_p.G75E			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	75					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	GAGTTCTGCGGGCAGAAGGGC	0.572																																						uc002mpf.2		NA																	0				ovary(1)	1						c.(223-225)GGG>GAG		solute carrier family 44, member 2 isoform 1	Choline(DB00122)						51.0	45.0	47.0					19																	10738659		2203	4300	6503	SO:0001583	missense	57153				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity	g.chr19:10738659G>A	AF070636	CCDS12245.1, CCDS54216.1	19p13.2	2014-08-12	2013-07-17		ENSG00000129353	ENSG00000129353		"""Solute carriers"""	17292	protein-coding gene	gene with protein product		606106				10677542, 15715662	Standard	NM_001145056		Approved	CTL2	uc002mpf.3	Q8IWA5	OTTHUMG00000180585	ENST00000335757.5:c.224G>A	19.37:g.10738659G>A	ENSP00000336888:p.Gly75Glu					SLC44A2_uc002mpe.3_Missense_Mutation_p.G73E	p.G75E	NM_020428	NP_065161	Q8IWA5	CTL2_HUMAN	Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		4	363	+			75			Extracellular (Potential).		B2RBB1|B3KNH3|B4DFJ0|F2Q9D7|Q658V1|Q658Z2|Q6PJV7|Q8N2F0|Q9NY68	Missense_Mutation	SNP	ENST00000335757.5	37	c.224G>A	CCDS12245.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.996360	0.74818	.	.	ENSG00000129353	ENST00000407327;ENST00000335757;ENST00000380614	T;T	0.26518	1.73;1.73	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.60958	0.2309	M	0.92923	3.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.72584	-0.4249	10	0.87932	D	0	.	16.2726	0.82628	0.0:0.0:1.0:0.0	.	75;73	Q8IWA5;Q8IWA5-3	CTL2_HUMAN;.	E	73;75;75	ENSP00000385135:G73E;ENSP00000336888:G75E	ENSP00000336888:G75E	G	+	2	0	SLC44A2	10599659	1.000000	0.71417	1.000000	0.80357	0.404000	0.30871	7.210000	0.77924	2.381000	0.81170	0.561000	0.74099	GGG		0.572	SLC44A2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452045.1			12	12	0	0	0	0	12	12				
ZNF799	90576	broad.mit.edu	37	19	12501389	12501389	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr19:12501389T>A	ENST00000430385.3	-	4	2023	c.1823A>T	c.(1822-1824)aAg>aTg	p.K608M	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000419318.1_Missense_Mutation_p.K576M	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	608					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						CCAGTGAGTCTTTTTATGTCT	0.403																																						uc010dyt.2		NA																	0				breast(3)|ovary(2)|skin(1)	6						c.(1822-1824)AAG>ATG		zinc finger protein 799							91.0	97.0	95.0					19																	12501389		2203	4300	6503	SO:0001583	missense	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12501389T>A	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"""Zinc fingers, C2H2-type"", ""-"""	28071	protein-coding gene	gene with protein product			"""zinc finger protein 842"""	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.1823A>T	19.37:g.12501389T>A	ENSP00000411084:p.Lys608Met					ZNF799_uc002mts.3_Intron	p.K608M	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN			4	1973	-			608			C2H2-type 17.			Missense_Mutation	SNP	ENST00000430385.3	37	c.1823A>T	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	T	6.093	0.385490	0.11524	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.12569	2.67;2.67	1.27	-1.71	0.08133	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13243	0.0321	L	0.52823	1.66	0.09310	N	1	P	0.37663	0.604	B	0.41988	0.372	T	0.23904	-1.0175	9	0.49607	T	0.09	.	2.7312	0.05227	0.218:0.4612:0.0:0.3208	.	608	Q96GE5	ZN799_HUMAN	M	576;608	ENSP00000415278:K576M;ENSP00000411084:K608M	ENSP00000415278:K576M	K	-	2	0	ZNF799	12362389	0.000000	0.05858	0.006000	0.13384	0.012000	0.07955	-1.877000	0.01631	-0.267000	0.09325	-0.617000	0.04050	AAG		0.403	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		54	96	0	0	0	0	54	96				
UNC13A	23025	broad.mit.edu	37	19	17740103	17740103	+	Silent	SNP	T	T	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr19:17740103T>A	ENST00000519716.2	-	31	3698	c.3699A>T	c.(3697-3699)gcA>gcT	p.A1233A	UNC13A_ENST00000552293.1_Silent_p.A1233A|UNC13A_ENST00000551649.1_Silent_p.A1233A|UNC13A_ENST00000428389.2_Silent_p.A1321A|UNC13A_ENST00000252773.7_Silent_p.A1233A|UNC13A_ENST00000550896.1_Silent_p.A1231A	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1233	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						AGATGATGTCTGCATACTGGA	0.577																																						uc002nhd.2		NA																	0				ovary(3)	3						c.(3961-3963)GCA>GCT		unc-13 homolog A							93.0	89.0	90.0					19																	17740103		2082	4212	6294	SO:0001819	synonymous_variant	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17740103T>A	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.3699A>T	19.37:g.17740103T>A							p.A1321A	NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN			31	3963	-			1233			MHD1.		E5RHY9	Silent	SNP	ENST00000519716.2	37	c.3963A>T	CCDS46013.2																																																																																				0.577	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		8	15	0	0	0	0	8	15				
ZNF93	81931	broad.mit.edu	37	19	20044894	20044894	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr19:20044894C>T	ENST00000343769.5	+	4	1158	c.1130C>T	c.(1129-1131)gCc>gTc	p.A377V	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	377					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)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						TGTGGCAAAGCCTTCATTTGG	0.393																																						uc002non.2		NA																	0				pancreas(1)	1						c.(1129-1131)GCC>GTC		zinc finger protein 93							87.0	87.0	87.0					19																	20044894		2203	4300	6503	SO:0001583	missense	81931					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:20044894C>T	M61873	CCDS32973.1	19p12	2014-02-12	2006-05-12		ENSG00000184635	ENSG00000184635		"""Zinc fingers, C2H2-type"", ""-"""	13169	protein-coding gene	gene with protein product		603975	"""zinc finger protein 505"", ""zinc finger protein 93 (HTF34)"""	ZNF505		8467795, 2023909	Standard	NM_031218		Approved	HPF34, TF34, FLJ12488	uc002non.3	P35789	OTTHUMG00000182371	ENST00000343769.5:c.1130C>T	19.37:g.20044894C>T	ENSP00000342002:p.Ala377Val						p.A377V	NM_031218	NP_112495	P35789	ZNF93_HUMAN			4	1241	+			377			C2H2-type 9.		A6NMY2|B9EGT2|Q8N8Q4|Q9H9X5|Q9Y2N8	Missense_Mutation	SNP	ENST00000343769.5	37	c.1130C>T	CCDS32973.1	.	.	.	.	.	.	.	.	.	.	c	13.45	2.240736	0.39598	.	.	ENSG00000184635	ENST00000343769;ENST00000427325	T	0.01043	5.41	0.85	-0.442	0.12253	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01695	0.0054	L	0.38953	1.18	0.09310	N	0.99999	D	0.56035	0.974	P	0.53722	0.733	T	0.49925	-0.8887	9	0.49607	T	0.09	.	2.1391	0.03770	0.0:0.3394:0.3481:0.3124	.	377	P35789	ZNF93_HUMAN	V	377	ENSP00000342002:A377V	ENSP00000342002:A377V	A	+	2	0	ZNF93	19905894	0.000000	0.05858	0.521000	0.27850	0.521000	0.34408	-1.076000	0.03420	0.192000	0.20272	0.195000	0.17529	GCC		0.393	ZNF93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460808.2	NM_031218		26	42	0	0	0	0	26	42				
ZNF829	374899	broad.mit.edu	37	19	37398928	37398928	+	Splice_Site	SNP	T	T	C			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr19:37398928T>C	ENST00000391711.3	-	5	588		c.e5-2		ZNF345_ENST00000432005.2_Intron|ZNF829_ENST00000520965.1_Splice_Site	NM_001037232.3	NP_001032309.2	Q3KNS6	ZN829_HUMAN	zinc finger protein 829						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGGAAAGTCCTGTTCACAAGA	0.468																																						uc002ofa.1		NA																	0					0						c.e5-1		zinc finger protein 829							84.0	84.0	84.0					19																	37398928		2172	4288	6460	SO:0001630	splice_region_variant	374899				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37398928T>C	BC107131	CCDS42557.1, CCDS59380.1	19q13.12	2013-01-08			ENSG00000185869	ENSG00000185869		"""Zinc fingers, C2H2-type"", ""-"""	34032	protein-coding gene	gene with protein product							Standard	NM_001037232		Approved	DKFZp779O175	uc021utr.1	Q3KNS6	OTTHUMG00000048161	ENST00000391711.3:c.224-2A>G	19.37:g.37398928T>C						ZNF345_uc002oez.2_Intron|ZNF829_uc002ofb.2_Intron	p.G75_splice	NM_001037232	NP_001032309	Q3KNS6	ZN829_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	586	-	Esophageal squamous(110;0.183)							Q3KNS7|Q6ZNN0|Q7Z657	Splice_Site	SNP	ENST00000391711.3	37	c.224_splice	CCDS42557.1	.	.	.	.	.	.	.	.	.	.	T	17.39	3.376714	0.61735	.	.	ENSG00000185869	ENST00000520965;ENST00000391711	.	.	.	4.54	4.54	0.55810	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.4566	0.44555	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF829	42090768	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	3.575000	0.53870	2.038000	0.60285	0.477000	0.44152	.		0.468	ZNF829-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109575.3	NM_001037232	Intron	9	33	0	0	0	0	9	33				
ZNF420	147923	broad.mit.edu	37	19	37618477	37618477	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr19:37618477A>G	ENST00000337995.3	+	5	799	c.584A>G	c.(583-585)tAt>tGt	p.Y195C	CTC-454I21.4_ENST00000587645.1_RNA|ZNF420_ENST00000304239.7_Missense_Mutation_p.Y195C|ZNF585A_ENST00000588723.1_Intron	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	195					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAGAAACCCTATGCATGTAAG	0.388																																						uc002ofl.2		NA																	0					0						c.(583-585)TAT>TGT		zinc finger protein 420							57.0	59.0	58.0					19																	37618477		2203	4300	6503	SO:0001583	missense	147923				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37618477A>G	AK056695	CCDS12498.1	19q13.12	2013-01-08			ENSG00000197050	ENSG00000197050		"""Zinc fingers, C2H2-type"", ""-"""	20649	protein-coding gene	gene with protein product							Standard	NM_144689		Approved	FLJ32191	uc002ofl.3	Q8TAQ5	OTTHUMG00000048168	ENST00000337995.3:c.584A>G	19.37:g.37618477A>G	ENSP00000338770:p.Tyr195Cys						p.Y195C	NM_144689	NP_653290	Q8TAQ5	ZN420_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	799	+			195			C2H2-type 3.		B2RDY6|Q96ML5	Missense_Mutation	SNP	ENST00000337995.3	37	c.584A>G	CCDS12498.1	.	.	.	.	.	.	.	.	.	.	A	15.04	2.714241	0.48622	.	.	ENSG00000197050	ENST00000304239;ENST00000337995	T;T	0.25414	1.8;1.8	3.93	3.93	0.45458	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.50429	0.1615	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.54483	-0.8287	9	0.72032	D	0.01	.	6.5662	0.22513	0.7858:0.0:0.0:0.2142	.	195	Q8TAQ5	ZN420_HUMAN	C	195	ENSP00000306102:Y195C;ENSP00000338770:Y195C	ENSP00000306102:Y195C	Y	+	2	0	ZNF420	42310317	0.003000	0.15002	1.000000	0.80357	0.992000	0.81027	0.723000	0.25939	1.638000	0.50547	0.533000	0.62120	TAT		0.388	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109587.3	NM_144689		13	37	0	0	0	0	13	37				
MAP4K1	11184	broad.mit.edu	37	19	39103266	39103266	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr19:39103266T>A	ENST00000591517.1	-	9	678	c.650A>T	c.(649-651)gAt>gTt	p.D217V	MAP4K1_ENST00000423454.2_5'UTR|MAP4K1_ENST00000396857.2_Missense_Mutation_p.D217V|MAP4K1_ENST00000589002.1_5'UTR|MAP4K1_ENST00000586296.1_Missense_Mutation_p.D217V|MAP4K1_ENST00000589130.1_Missense_Mutation_p.D213V	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	217	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGGGTGCACATCAAAGAGCGG	0.627																																						uc002oix.1		NA																	0				skin(4)|lung(3)|ovary(1)	8						c.(649-651)GAT>GTT		mitogen-activated protein kinase kinase kinase							41.0	46.0	45.0					19																	39103266		2113	4253	6366	SO:0001583	missense	11184				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity	g.chr19:39103266T>A	U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6863	protein-coding gene	gene with protein product	"""hematopoietic progenitor kinase 1"""	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.650A>T	19.37:g.39103266T>A	ENSP00000465039:p.Asp217Val					MAP4K1_uc002oiy.1_Missense_Mutation_p.D217V|MAP4K1_uc010xug.1_5'UTR	p.D217V	NM_007181	NP_009112	Q92918	M4K1_HUMAN	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		9	758	-	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		217			Protein kinase.			Missense_Mutation	SNP	ENST00000591517.1	37	c.650A>T	CCDS59385.1	.	.	.	.	.	.	.	.	.	.	T	15.98	2.992033	0.54041	.	.	ENSG00000104814	ENST00000396857;ENST00000221409	T	0.26660	1.72	4.21	4.21	0.49690	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.071310	0.52532	D	0.000061	T	0.52208	0.1720	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79784	0.984;0.993	T	0.59478	-0.7447	10	0.87932	D	0	.	12.2855	0.54789	0.0:0.0:0.0:1.0	.	217;217	Q92918-2;Q92918	.;M4K1_HUMAN	V	217	ENSP00000380066:D217V	ENSP00000221409:D217V	D	-	2	0	MAP4K1	43795106	1.000000	0.71417	0.978000	0.43139	0.243000	0.25628	7.628000	0.83189	1.543000	0.49345	0.379000	0.24179	GAT		0.627	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1	NM_001042600		22	31	0	0	0	0	22	31				
ZNF180	7733	broad.mit.edu	37	19	44981291	44981291	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr19:44981291T>A	ENST00000221327.4	-	5	1688	c.1407A>T	c.(1405-1407)caA>caT	p.Q469H	ZNF180_ENST00000585514.1_5'Flank|ZNF180_ENST00000592529.1_Missense_Mutation_p.Q442H|AC069278.4_ENST00000591684.1_lincRNA|ZNF180_ENST00000391956.4_Missense_Mutation_p.Q444H	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	469					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				ATTTCCCACATTGATTACATT	0.368																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)	uc002ozf.3		NA																	0				ovary(2)	2						c.(1405-1407)CAA>CAT		zinc finger protein 180							75.0	77.0	76.0					19																	44981291		2203	4299	6502	SO:0001583	missense	7733				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44981291T>A	AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"""Zinc fingers, C2H2-type"", ""-"""	12970	protein-coding gene	gene with protein product		606740	"""zinc finger protein 180 (HHZ168)"""				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.1407A>T	19.37:g.44981291T>A	ENSP00000221327:p.Gln469His					ZNF180_uc002ozh.3_Missense_Mutation_p.Q126H|ZNF180_uc002ozi.3_Missense_Mutation_p.Q442H|ZNF180_uc002ozg.3_Missense_Mutation_p.Q468H|ZNF180_uc010ejm.2_Missense_Mutation_p.Q444H	p.Q469H	NM_013256	NP_037388	Q9UJW8	ZN180_HUMAN			5	1689	-		Prostate(69;0.0435)	469			C2H2-type 5.		B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Missense_Mutation	SNP	ENST00000221327.4	37	c.1407A>T	CCDS12639.1	.	.	.	.	.	.	.	.	.	.	T	9.428	1.084682	0.20309	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	T;T	0.07567	3.18;3.18	5.2	-5.7	0.02421	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40302	N	0.001131	T	0.04907	0.0132	N	0.16862	0.45	0.80722	D	1	P;P;P	0.39624	0.631;0.681;0.681	B;B;B	0.39935	0.21;0.314;0.314	T	0.08330	-1.0727	10	0.87932	D	0	-12.2045	11.484	0.50342	0.0:0.509:0.0946:0.3964	.	444;468;469	G5E9B8;Q58F03;Q9UJW8	.;.;ZN180_HUMAN	H	469;444	ENSP00000221327:Q469H;ENSP00000375818:Q444H	ENSP00000221327:Q469H	Q	-	3	2	ZNF180	49673131	0.000000	0.05858	0.184000	0.23157	0.473000	0.32948	-6.473000	0.00064	-1.871000	0.01138	-1.811000	0.00612	CAA		0.368	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1	NM_013256		21	62	0	0	0	0	21	62				
PRKCG	5582	broad.mit.edu	37	19	54396287	54396287	+	Silent	SNP	G	G	A	rs139506301		TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr19:54396287G>A	ENST00000263431.3	+	8	1149	c.867G>A	c.(865-867)ccG>ccA	p.P289P	PRKCG_ENST00000542049.1_Silent_p.P176P|PRKCG_ENST00000540413.1_Silent_p.P289P|PRKCG_ENST00000536044.1_Intron	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	289					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	ACAATGTGCCGGTGGCCGATG	0.607																																						uc002qcq.1		NA																	0				lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9						c.(865-867)CCG>CCA		protein kinase C, gamma							60.0	53.0	55.0					19																	54396287		2203	4300	6503	SO:0001819	synonymous_variant	5582				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	g.chr19:54396287G>A	M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.867G>A	19.37:g.54396287G>A						PRKCG_uc010eqz.1_Silent_p.P289P|PRKCG_uc010yef.1_Intron|PRKCG_uc010yeg.1_Silent_p.P289P|PRKCG_uc010yeh.1_Silent_p.P176P	p.P289P	NM_002739	NP_002730	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	8	1149	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		289					B7Z8Q0	Silent	SNP	ENST00000263431.3	37	c.867G>A	CCDS12867.1																																																																																				0.607	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		4	23	0	0	0	0	4	23				
ZNF71	58491	broad.mit.edu	37	19	57133988	57133988	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr19:57133988A>T	ENST00000328070.6	+	3	1567	c.1333A>T	c.(1333-1335)Aag>Tag	p.K445*		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	445					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)			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CCAGTGCGGGAAGTCCTTCAT	0.647																																						uc002qnm.3		NA																	0				skin(1)	1						c.(1333-1335)AAG>TAG		zinc finger protein 71							74.0	63.0	67.0					19																	57133988		2203	4300	6503	SO:0001587	stop_gained	58491					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57133988A>T	X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"""Zinc fingers, C2H2-type"""	13141	protein-coding gene	gene with protein product		194545	"""zinc finger protein 71 (Cos26)"""			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.1333A>T	19.37:g.57133988A>T	ENSP00000328245:p.Lys445*						p.K445*	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN		GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)	3	1571	+			445			C2H2-type 12.		Q15919|Q9UC09|Q9UQD3	Nonsense_Mutation	SNP	ENST00000328070.6	37	c.1333A>T	CCDS12947.1	.	.	.	.	.	.	.	.	.	.	A	38	6.756004	0.97813	.	.	ENSG00000197951	ENST00000328070	.	.	.	3.82	2.79	0.32731	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999993	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.2288	0.37423	0.8015:0.1985:0.0:0.0	.	.	.	.	X	445	.	ENSP00000328245:K445X	K	+	1	0	ZNF71	61825800	0.000000	0.05858	0.942000	0.38095	0.849000	0.48306	1.142000	0.31540	0.530000	0.28619	0.459000	0.35465	AAG		0.647	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2	NM_021216		17	24	0	0	0	0	17	24				
ITSN2	50618	broad.mit.edu	37	2	24521568	24521568	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr2:24521568T>C	ENST00000355123.4	-	13	1903	c.1460A>G	c.(1459-1461)aAa>aGa	p.K487R	ITSN2_ENST00000361999.3_Missense_Mutation_p.K487R|ITSN2_ENST00000406921.3_Missense_Mutation_p.K487R	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	487					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTCTTCTTTTTAGAGTTTAA	0.373																																						uc002rfe.2		NA																	0				kidney(2)|ovary(1)|central_nervous_system(1)	4						c.(1459-1461)AAA>AGA		intersectin 2 isoform 1							157.0	153.0	155.0					2																	24521568		2203	4300	6503	SO:0001583	missense	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24521568T>C	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.1460A>G	2.37:g.24521568T>C	ENSP00000347244:p.Lys487Arg					ITSN2_uc002rff.2_Missense_Mutation_p.K487R|ITSN2_uc002rfg.2_Missense_Mutation_p.K487R|ITSN2_uc010eyd.2_Missense_Mutation_p.K512R	p.K487R	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN			13	1718	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		487			Potential.		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	37	c.1460A>G	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	T	14.60	2.584844	0.46110	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000445614;ENST00000406921;ENST00000412011	T;T;T;T;T	0.81078	0.24;0.22;0.24;0.64;-1.45	5.24	2.73	0.32206	.	0.180489	0.24957	N	0.034250	T	0.65281	0.2676	N	0.20685	0.6	0.31182	N	0.701932	B;B;B;B	0.18461	0.028;0.028;0.028;0.003	B;B;B;B	0.19946	0.027;0.027;0.016;0.003	T	0.59952	-0.7357	10	0.22706	T	0.39	.	10.5273	0.44957	0.0:0.142:0.0:0.858	.	487;487;487;487	Q9NZM3-4;Q9NZM3-3;Q9NZM3-2;Q9NZM3	.;.;.;ITSN2_HUMAN	R	487;487;487;511;487;512	ENSP00000354561:K487R;ENSP00000347244:K487R;ENSP00000370250:K487R;ENSP00000384499:K487R;ENSP00000391224:K512R	ENSP00000347244:K487R	K	-	2	0	ITSN2	24375072	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.249000	0.43169	0.903000	0.36546	0.397000	0.26171	AAA		0.373	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		30	74	0	0	0	0	30	74				
EMILIN1	11117	broad.mit.edu	37	2	27303763	27303763	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr2:27303763C>T	ENST00000380320.4	+	3	953	c.454C>T	c.(454-456)Cgc>Tgc	p.R152C		NM_007046.3	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	152					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAGCCTGCCCGCCCCAACCT	0.667											OREG0014513	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002rii.3		NA																	0				pancreas(1)	1						c.(454-456)CGC>TGC		elastin microfibril interfacer 1 precursor							17.0	15.0	16.0					2																	27303763		2198	4296	6494	SO:0001583	missense	11117				cell adhesion	collagen		g.chr2:27303763C>T	AF088916	CCDS1733.1	2p23.3-p23.2	2008-02-05			ENSG00000138080	ENSG00000138080		"""EMI domain containing"""	19880	protein-coding gene	gene with protein product		130660					Standard	NM_007046		Approved	DKFZp586M121, gp115	uc002rii.4	Q9Y6C2	OTTHUMG00000097069	ENST00000380320.4:c.454C>T	2.37:g.27303763C>T	ENSP00000369677:p.Arg152Cys		OREG0014513	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	793	EMILIN1_uc010eyq.1_Missense_Mutation_p.R152C|EMILIN1_uc002rik.3_5'Flank	p.R152C	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN			3	882	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		152					A5PL03|H0Y7A0|Q53SY9|Q96G58|Q96IH6|Q9UG76	Missense_Mutation	SNP	ENST00000380320.4	37	c.454C>T	CCDS1733.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.363336	0.61513	.	.	ENSG00000138080	ENST00000380320	T	0.66995	-0.24	6.07	4.24	0.50183	.	0.196583	0.30383	N	0.009745	T	0.54159	0.1841	L	0.27053	0.805	0.37584	D	0.919948	D	0.60575	0.988	P	0.44477	0.451	T	0.60616	-0.7228	10	0.56958	D	0.05	-14.4424	9.9183	0.41448	0.1572:0.6917:0.1511:0.0	.	152	Q9Y6C2	EMIL1_HUMAN	C	152	ENSP00000369677:R152C	ENSP00000369677:R152C	R	+	1	0	EMILIN1	27157267	0.781000	0.28676	0.777000	0.31699	0.415000	0.31203	1.819000	0.39022	0.857000	0.35407	0.655000	0.94253	CGC		0.667	EMILIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214185.1	NM_007046		3	10	0	0	0	0	3	10				
IFT172	26160	broad.mit.edu	37	2	27706461	27706461	+	Silent	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr2:27706461C>T	ENST00000260570.3	-	6	571	c.468G>A	c.(466-468)gtG>gtA	p.V156V	IFT172_ENST00000416524.2_Silent_p.V135V|IFT172_ENST00000359466.6_Silent_p.V156V	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	156					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TTGTCAGGGACACCACGTAAG	0.403																																						uc002rku.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(466-468)GTG>GTA		selective LIM binding factor homolog							134.0	124.0	127.0					2																	27706461		2203	4300	6503	SO:0001819	synonymous_variant	26160				cilium assembly	cilium	binding	g.chr2:27706461C>T	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.468G>A	2.37:g.27706461C>T						IFT172_uc002rkw.2_Silent_p.V156V|IFT172_uc010yls.1_Silent_p.V135V|IFT172_uc010ezc.2_Silent_p.V156V|IFT172_uc002rkv.2_Silent_p.V156V	p.V156V	NM_015662	NP_056477	Q9UG01	IF172_HUMAN			6	519	-	Acute lymphoblastic leukemia(172;0.155)		156			WD 4.		A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Silent	SNP	ENST00000260570.3	37	c.468G>A	CCDS1755.1																																																																																				0.403	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		13	41	0	0	0	0	13	41				
TRMT61B	55006	broad.mit.edu	37	2	29092865	29092865	+	Silent	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr2:29092865C>T	ENST00000306108.5	-	1	302	c.279G>A	c.(277-279)ctG>ctA	p.L93L		NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	93					mitochondrial tRNA methylation (GO:0070901)|protein homooligomerization (GO:0051260)	mitochondrion (GO:0005739)|tRNA (m1A) methyltransferase complex (GO:0031515)	tRNA (adenine-N1-)-methyltransferase activity (GO:0016429)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						ACTCTTCCCGCAGCGTCGGCA	0.612																																						uc002rmm.2		NA																	0					0						c.(277-279)CTG>CTA		tRNA methyltransferase 61 homolog B							65.0	66.0	65.0					2																	29092865		2203	4300	6503	SO:0001819	synonymous_variant	55006						tRNA (adenine-N1-)-methyltransferase activity	g.chr2:29092865C>T	BC010365	CCDS1768.1	2p23.2	2009-01-09			ENSG00000171103	ENSG00000171103			26070	protein-coding gene	gene with protein product						11230166	Standard	NM_017910		Approved	FLJ20628	uc002rmm.3	Q9BVS5	OTTHUMG00000128433	ENST00000306108.5:c.279G>A	2.37:g.29092865C>T						TRMT61B_uc002rmn.2_Silent_p.L93L|TRMT61B_uc010ezk.2_RNA	p.L93L	NM_017910	NP_060380	Q9BVS5	TR61B_HUMAN			1	311	-			93					Q9H0Q9|Q9NWS7	Silent	SNP	ENST00000306108.5	37	c.279G>A	CCDS1768.1																																																																																				0.612	TRMT61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250224.1	NM_017910		15	36	0	0	0	0	15	36				
TMEM127	55654	broad.mit.edu	37	2	96933414	96933414	+	5'Flank	SNP	G	G	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr2:96933414G>A	ENST00000258439.3	-	0	0				TMEM127_ENST00000432959.1_5'Flank|CIAO1_ENST00000469320.1_3'UTR|CIAO1_ENST00000488633.1_Missense_Mutation_p.A114T	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN	transmembrane protein 127						negative regulation of cell proliferation (GO:0008285)|negative regulation of TOR signaling (GO:0032007)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						AGTGGCTTGGGCCCCATCTGG	0.537																																						uc002svs.2		NA																	0					0						c.(340-342)GCC>ACC		WD repeat domain 39							43.0	43.0	43.0					2																	96933414		2203	4300	6503	SO:0001631	upstream_gene_variant	9391				chromosome segregation|iron-sulfur cluster assembly|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter	MMXD complex	protein binding	g.chr2:96933414G>A	AK000514	CCDS2018.1	2q11.2	2014-09-17			ENSG00000135956	ENSG00000135956			26038	protein-coding gene	gene with protein product		613403				10493829	Standard	NM_017849		Approved	FLJ20507, FLJ22257	uc002svr.3	O75204	OTTHUMG00000130454		2.37:g.96933414G>A	Exception_encountered					TMEM127_uc002svq.2_5'Flank|TMEM127_uc002svr.2_5'Flank	p.A114T	NM_004804	NP_004795	O76071	CIAO1_HUMAN			3	545	+			114			WD 3.		D3DXH0	Missense_Mutation	SNP	ENST00000258439.3	37	c.340G>A	CCDS2018.1	.	.	.	.	.	.	.	.	.	.	G	36	5.777802	0.96929	.	.	ENSG00000144021	ENST00000488633	T	0.65732	-0.17	5.79	5.79	0.91817	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.67552	0.2905	N	0.16233	0.39	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	T	0.71431	-0.4595	10	0.62326	D	0.03	-25.5144	17.535	0.87827	0.0:0.0:1.0:0.0	.	114	O76071	CIAO1_HUMAN	T	114	ENSP00000418287:A114T	ENSP00000418287:A114T	A	+	1	0	CIAO1	96297141	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.435000	0.80391	2.739000	0.93911	0.655000	0.94253	GCC		0.537	TMEM127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252845.3	NM_017849		4	14	0	0	0	0	4	14				
SLC9A4	389015	broad.mit.edu	37	2	103125363	103125363	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr2:103125363G>T	ENST00000295269.4	+	6	1916	c.1459G>T	c.(1459-1461)Gaa>Taa	p.E487*		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	487					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CAATAAAAAAGAATCCATCAA	0.353																																						uc002tbz.3		NA																	0				skin(2)|central_nervous_system(1)	3						c.(1459-1461)GAA>TAA		solute carrier family 9 (sodium/hydrogen							123.0	130.0	128.0					2																	103125363		2203	4300	6503	SO:0001587	stop_gained	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103125363G>T		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.1459G>T	2.37:g.103125363G>T	ENSP00000295269:p.Glu487*						p.E487*	NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN			6	1916	+			487			Cytoplasmic (Potential).		Q69YK0	Nonsense_Mutation	SNP	ENST00000295269.4	37	c.1459G>T	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	G	43	9.998569	0.99314	.	.	ENSG00000180251	ENST00000295269	.	.	.	6.16	6.16	0.99307	.	0.094435	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	.	.	.	X	487	.	ENSP00000295269:E487X	E	+	1	0	SLC9A4	102491795	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.036000	0.49767	2.937000	0.99478	0.650000	0.86243	GAA		0.353	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		18	57	1	0	3.99e-14	4.68e-14	18	57				
NCK2	8440	broad.mit.edu	37	2	106497977	106497977	+	Silent	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr2:106497977C>T	ENST00000233154.4	+	4	862	c.420C>T	c.(418-420)gtC>gtT	p.V140V	NCK2_ENST00000451463.2_Intron|NCK2_ENST00000393349.2_Silent_p.V140V|NCK2_ENST00000522586.1_Intron	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	140	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|lamellipodium assembly (GO:0030032)|negative regulation of cell proliferation (GO:0008285)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of translation (GO:0006417)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|lung(3)|ovary(1)	5						GCGTCACCGTCATGGAGAAGT	0.632																																						uc002tdg.2		NA																	0				ovary(1)|lung(1)	2						c.(418-420)GTC>GTT		NCK adaptor protein 2 isoform A							89.0	75.0	80.0					2																	106497977		2203	4300	6503	SO:0001819	synonymous_variant	8440				axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity	g.chr2:106497977C>T	AF043119	CCDS33266.1	2q12	2013-02-14			ENSG00000071051	ENSG00000071051		"""SH2 domain containing"""	7665	protein-coding gene	gene with protein product		604930				9737977, 16752908	Standard	NM_001004720		Approved	NCKbeta	uc002tdi.3	O43639	OTTHUMG00000153116	ENST00000233154.4:c.420C>T	2.37:g.106497977C>T						NCK2_uc002tdh.2_Intron|NCK2_uc002tdi.2_Silent_p.V140V	p.V140V	NM_003581	NP_003572	O43639	NCK2_HUMAN			4	862	+			140			SH3 2.		D3DVK1|Q9BWN9|Q9UIC3	Silent	SNP	ENST00000233154.4	37	c.420C>T	CCDS33266.1																																																																																				0.632	NCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329634.1	NM_003581		39	49	0	0	0	0	39	49				
LRP1B	53353	broad.mit.edu	37	2	141272305	141272306	+	Missense_Mutation	DNP	GC	GC	AA	rs372667614		TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr2:141272305_141272306GC>AA	ENST00000389484.3	-	51	9156_9157	c.8185_8186GC>TT	c.(8185-8187)GCa>TTa	p.A2729L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2729	LDL-receptor class A 16. {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.A2729T(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)		ACATTTTTGTGCGGAACAAGCA	0.381										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	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.(8185-8187)GCA>TTA		low density lipoprotein-related protein 1B																																				SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141272305_141272306GC>AA	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.8185_8186delinsAA	2.37:g.141272305_141272306delinsAA	ENSP00000374135:p.Ala2729Leu	TSP Lung(27;0.18)					p.A2729L	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)	51	9157_9158	-		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)	2729			Extracellular (Potential).|LDL-receptor class A 16.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	DNP	ENST00000389484.3	37	c.8185_8186GC>TT	CCDS2182.1																																																																																				0.381	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		11	37	0	0	0	0	11	37				
NEB	4703	broad.mit.edu	37	2	152398013	152398013	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr2:152398013G>T	ENST00000172853.10	-	108	15674	c.15527C>A	c.(15526-15528)cCt>cAt	p.P5176H	NEB_ENST00000397345.3_Missense_Mutation_p.P6877H|NEB_ENST00000409198.1_Missense_Mutation_p.P5176H|NEB_ENST00000604864.1_Missense_Mutation_p.P6877H|NEB_ENST00000603639.1_Missense_Mutation_p.P6877H|NEB_ENST00000427231.2_Missense_Mutation_p.P6877H			P20929	NEBU_HUMAN	nebulin	5176					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGGAGTATCAGGAACTGAAGT	0.473																																						uc010fnx.2		NA																	0				ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(15526-15528)CCT>CAT		nebulin isoform 3							145.0	138.0	140.0					2																	152398013		1956	4174	6130	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152398013G>T	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.15527C>A	2.37:g.152398013G>T	ENSP00000172853:p.Pro5176His					NEB_uc002txr.2_Missense_Mutation_p.P1599H	p.P5176H	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	108	15718	-			5176			Nebulin 141.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.15527C>A		.	.	.	.	.	.	.	.	.	.	G	17.41	3.383355	0.61845	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.07327	3.4;3.42;3.4;3.2;3.4	5.43	4.43	0.53597	.	0.231175	0.45126	D	0.000381	T	0.09423	0.0232	N	0.08118	0	0.80722	D	1	P;D	0.89917	0.773;1.0	P;D	0.81914	0.566;0.995	T	0.22103	-1.0226	10	0.45353	T	0.12	.	3.9762	0.09475	0.3115:0.0:0.6885:0.0	.	5176;1607	P20929;Q14215	NEBU_HUMAN;.	H	5176;6877;6877;1225;1607;5176	ENSP00000386259:P5176H;ENSP00000380505:P6877H;ENSP00000416578:P6877H;ENSP00000410961:P1607H;ENSP00000172853:P5176H	ENSP00000172853:P5176H	P	-	2	0	NEB	152106259	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.684000	0.54671	2.552000	0.86080	0.563000	0.77884	CCT		0.473	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		19	81	1	0	7.21e-19	8.63e-19	19	81				
RBMS1	5937	broad.mit.edu	37	2	161223852	161223852	+	Silent	SNP	G	G	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr2:161223852G>T	ENST00000348849.3	-	2	556	c.126C>A	c.(124-126)acC>acA	p.T42T	RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000409289.2_Silent_p.T9T|RBMS1_ENST00000409972.1_Silent_p.T9T|RBMS1_ENST00000392753.3_Silent_p.T42T|RBMS1_ENST00000409075.1_Silent_p.T9T	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	42					DNA replication (GO:0006260)|RNA processing (GO:0006396)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)		PLA2R1/RBMS1(2)								tattactgctggtggtgctgG	0.552																																						uc002ubo.2		NA																	0					0						c.(124-126)ACC>ACA		RNA binding motif, single stranded interacting							89.0	83.0	85.0					2																	161223852		2203	4300	6503	SO:0001819	synonymous_variant	5937				DNA replication|RNA processing	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding	g.chr2:161223852G>T	D28482	CCDS2213.1	2q24.2	2013-02-12			ENSG00000153250	ENSG00000153250		"""RNA binding motif (RRM) containing"""	9907	protein-coding gene	gene with protein product	"""suppressor of cdc 2 (cdc13) with RNA binding motif 2"", ""c-myc gene single strand binding protein 2"""	602310	"""chromosome 2 open reading frame 12"""	C2orf12		8041632, 8134115, 7838710	Standard	NM_016836		Approved	SCR2, MSSP-1, MSSP-2, MSSP-3, YC1, HCC-4, DKFZp564H0764	uc002ubo.3	P29558	OTTHUMG00000132031	ENST00000348849.3:c.126C>A	2.37:g.161223852G>T						RBMS1_uc002ubj.2_Silent_p.T9T|RBMS1_uc002ubk.2_Silent_p.T9T|RBMS1_uc002ubl.2_Silent_p.T40T|RBMS1_uc002ubn.2_Silent_p.T42T|RBMS1_uc002ubi.3_Silent_p.T42T|RBMS1_uc002ubm.2_Silent_p.T9T|RBMS1_uc002ubp.2_Silent_p.T42T|RBMS1_uc010fox.2_Silent_p.T42T	p.T42T	NM_016836	NP_058520	P29558	RBMS1_HUMAN			2	570	-			42					Q14869|Q15433|Q53P46|Q53QX8|Q53RG6|Q8WV20	Silent	SNP	ENST00000348849.3	37	c.126C>A	CCDS2213.1																																																																																				0.552	RBMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255043.4	NM_016836		14	44	1	0	1.05e-09	1.2e-09	14	44				
TTC21B	79809	broad.mit.edu	37	2	166770094	166770094	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr2:166770094T>C	ENST00000243344.7	-	16	2338	c.2201A>G	c.(2200-2202)aAt>aGt	p.N734S		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	734					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						CTCTAGAATATTCATGTATGC	0.313																																						uc002udk.2		NA																	0				ovary(2)|pancreas(2)|breast(1)	5						c.(2200-2202)AAT>AGT		tetratricopeptide repeat domain 21B							86.0	87.0	87.0					2																	166770094		2203	4300	6503	SO:0001583	missense	79809					cilium axoneme|cytoplasm|cytoskeleton	binding	g.chr2:166770094T>C	AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.2201A>G	2.37:g.166770094T>C	ENSP00000243344:p.Asn734Ser						p.N734S	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN			16	2334	-			734			TPR 9.		A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	ENST00000243344.7	37	c.2201A>G	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	T	7.743	0.701761	0.15172	.	.	ENSG00000123607	ENST00000243344	T	0.59364	0.27	5.23	5.23	0.72850	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.043214	0.85682	D	0.000000	T	0.36991	0.0987	N	0.11789	0.175	0.80722	D	1	B	0.19073	0.033	B	0.24541	0.054	T	0.28267	-1.0049	10	0.02654	T	1	-17.1115	15.0948	0.72226	0.0:0.0:0.0:1.0	.	734	Q7Z4L5	TT21B_HUMAN	S	734	ENSP00000243344:N734S	ENSP00000243344:N734S	N	-	2	0	TTC21B	166478340	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.975000	0.56859	1.966000	0.57179	0.482000	0.46254	AAT		0.313	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753		16	51	0	0	0	0	16	51				
TTN	7273	broad.mit.edu	37	2	179587395	179587395	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr2:179587395T>C	ENST00000591111.1	-	74	21504	c.21280A>G	c.(21280-21282)Aga>Gga	p.R7094G	TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.R7411G|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R6167G|RP11-171I2.1_ENST00000590024.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12672					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)			CCTTGAATTCTGAACACAGTC	0.323																																						uc010zfg.1		NA																	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.(18499-18501)AGA>GGA		titin isoform N2-A							37.0	37.0	37.0					2																	179587395		1836	4083	5919	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179587395T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.21280A>G	2.37:g.179587395T>C	ENSP00000465570:p.Arg7094Gly					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R2828G	p.R6167G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		73	18723	-			7094					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.18499A>G		.	.	.	.	.	.	.	.	.	.	T	8.646	0.897106	0.17686	.	.	ENSG00000155657	ENST00000342992	T	0.42513	0.97	5.95	5.95	0.96441	Ribonuclease H-like (1);	.	.	.	.	T	0.38852	0.1056	L	0.48218	1.51	0.80722	D	1	B	0.23490	0.086	B	0.24848	0.056	T	0.28650	-1.0037	9	0.87932	D	0	.	12.0747	0.53636	0.1288:0.0:0.0:0.8712	.	7094	Q8WZ42	TITIN_HUMAN	G	6167	ENSP00000343764:R6167G	ENSP00000343764:R6167G	R	-	1	2	TTN	179295640	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	3.377000	0.52425	2.276000	0.75962	0.528000	0.53228	AGA		0.323	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	21	0	0	0	0	4	21				
CCDC141	285025	broad.mit.edu	37	2	179736188	179736188	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr2:179736188C>T	ENST00000420890.2	-	14	2288	c.2171G>A	c.(2170-2172)cGa>cAa	p.R724Q	CCDC141_ENST00000295723.5_Missense_Mutation_p.R149Q	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	724										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CCATTTTTGTCGTAGATCTAA	0.393																																						uc002unf.1		NA																	0				ovary(7)|pancreas(2)|skin(1)	10						c.(445-447)CGA>CAA		coiled-coil domain containing 141							154.0	155.0	155.0					2																	179736188		2203	4300	6503	SO:0001583	missense	285025						protein binding	g.chr2:179736188C>T	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.2171G>A	2.37:g.179736188C>T	ENSP00000395995:p.Arg724Gln						p.R149Q	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		4	503	-			149					H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	37	c.446G>A		.	.	.	.	.	.	.	.	.	.	C	1.470	-0.560056	0.03967	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723;ENST00000443758	T;T;T;T	0.39592	1.07;1.7;1.7;1.67	5.79	-2.34	0.06704	.	0.711936	0.12581	N	0.456432	T	0.15869	0.0382	N	0.05124	-0.11	0.09310	N	1	B	0.22983	0.078	B	0.12156	0.007	T	0.32534	-0.9903	10	0.02654	T	1	-1.5544	10.9369	0.47251	0.0:0.2704:0.0:0.7296	.	149	Q6ZP82	CC141_HUMAN	Q	724;168;149;724	ENSP00000395995:R724Q;ENSP00000344627:R168Q;ENSP00000295723:R149Q;ENSP00000390190:R724Q	ENSP00000295723:R149Q	R	-	2	0	CCDC141	179444433	0.001000	0.12720	0.000000	0.03702	0.274000	0.26718	-0.632000	0.05489	-0.333000	0.08476	0.557000	0.71058	CGA		0.393	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		33	162	0	0	0	0	33	162				
SESTD1	91404	broad.mit.edu	37	2	180036936	180036936	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr2:180036936G>A	ENST00000428443.3	-	5	596	c.280C>T	c.(280-282)Ctt>Ttt	p.L94F	SESTD1_ENST00000486468.1_5'UTR	NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	94	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.						phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			ACACAAACAAGGGACACCTCA	0.308																																						uc002uni.3		NA																	0				ovary(1)	1						c.(280-282)CTT>TTT		SEC14 and spectrin domains 1							94.0	96.0	95.0					2																	180036936		2203	4300	6503	SO:0001583	missense	91404				regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding	g.chr2:180036936G>A	AK096232	CCDS33338.1	2q31.3	2014-01-28			ENSG00000187231	ENSG00000187231			18379	protein-coding gene	gene with protein product						12837271	Standard	NM_178123		Approved	DKFZp434O0515, Solo	uc002uni.4	Q86VW0	OTTHUMG00000154554	ENST00000428443.3:c.280C>T	2.37:g.180036936G>A	ENSP00000415332:p.Leu94Phe						p.L94F	NM_178123	NP_835224	Q86VW0	SESD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)		5	430	-			94			CRAL-TRIO.		Q53R38|Q53SP3|Q5GM69|Q8N6M1|Q96LQ2	Missense_Mutation	SNP	ENST00000428443.3	37	c.280C>T	CCDS33338.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.024369	0.75390	.	.	ENSG00000187231	ENST00000428443;ENST00000440010;ENST00000435047	T;T;T	0.63096	-0.02;-0.02;-0.02	5.16	5.16	0.70880	Cellular retinaldehyde-binding/triple function, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.75162	0.3812	M	0.65975	2.015	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	T	0.75260	-0.3380	9	.	.	.	-12.9538	12.0581	0.53546	0.0791:0.0:0.9209:0.0	.	94	Q86VW0	SESD1_HUMAN	F	94	ENSP00000415332:L94F;ENSP00000416164:L94F;ENSP00000410286:L94F	.	L	-	1	0	SESTD1	179745181	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.744000	0.74854	2.403000	0.81681	0.561000	0.74099	CTT		0.308	SESTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335916.2	NM_178123		20	58	0	0	0	0	20	58				
ERBB4	2066	broad.mit.edu	37	2	212251875	212251875	+	Splice_Site	SNP	T	T	G			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr2:212251875T>G	ENST00000342788.4	-	27	3494	c.3184A>C	c.(3184-3186)Aac>Cac	p.N1062H	ERBB4_ENST00000436443.1_Splice_Site_p.N1046H|ERBB4_ENST00000402597.1_Splice_Site_p.N1052H	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1062					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	ACAAACTGGTTCTGTTAATAA	0.423										TSP Lung(8;0.080)																												uc002veg.1		NA																	0				lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33						c.(3184-3186)AAC>CAC		v-erb-a erythroblastic leukemia viral oncogene							97.0	100.0	99.0					2																	212251875		2203	4300	6503	SO:0001630	splice_region_variant	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212251875T>G	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.3184-1A>C	2.37:g.212251875T>G		TSP Lung(8;0.080)				ERBB4_uc002veh.1_Missense_Mutation_p.N1046H|ERBB4_uc010zji.1_Missense_Mutation_p.N1052H|ERBB4_uc010zjj.1_Missense_Mutation_p.N1036H	p.N1062H	NM_005235	NP_005226	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	27	3282	-		Renal(323;0.06)|Lung NSC(271;0.197)	1062			Cytoplasmic (Potential).		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.3184A>C	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	T	15.30	2.792107	0.50102	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.75367	-0.92;-0.92;-0.93	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.82079	0.4959	L	0.44542	1.39	0.58432	D	0.999999	D;P;D;D	0.89917	1.0;0.905;1.0;0.999	D;P;D;D	0.85130	0.997;0.693;0.997;0.994	T	0.81286	-0.1001	10	0.41790	T	0.15	.	16.6407	0.85098	0.0:0.0:0.0:1.0	.	1036;1052;1046;1062	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	H	1062;1046;1052	ENSP00000342235:N1062H;ENSP00000403204:N1046H;ENSP00000385565:N1052H	ENSP00000342235:N1062H	N	-	1	0	ERBB4	211960120	1.000000	0.71417	1.000000	0.80357	0.198000	0.23893	7.262000	0.78410	2.326000	0.78906	0.533000	0.62120	AAC		0.423	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599	Missense_Mutation	31	70	0	0	0	0	31	70				
SIGLEC1	6614	broad.mit.edu	37	20	3673192	3673192	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr20:3673192G>A	ENST00000344754.4	-	15	4005	c.4006C>T	c.(4006-4008)Cgt>Tgt	p.R1336C	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R1336C	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1336	Ig-like C2-type 13.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GCAGCAGGACGGGAGCTGCGG	0.682																																						uc002wja.2		NA																	0				pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						c.(4006-4008)CGT>TGT		sialoadhesin precursor							13.0	16.0	15.0					20																	3673192		2199	4294	6493	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3673192G>A	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.4006C>T	20.37:g.3673192G>A	ENSP00000341141:p.Arg1336Cys					SIGLEC1_uc002wjb.1_5'UTR|SIGLEC1_uc002wiz.3_Missense_Mutation_p.R1336C	p.R1336C	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN			15	4006	-			1336			Ig-like C2-type 13.|Extracellular (Potential).		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.4006C>T	CCDS13060.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.94|18.94	3.730127|3.730127	0.69074|0.69074	.|.	.|.	ENSG00000088827|ENSG00000088827	ENST00000419548|ENST00000344754;ENST00000202578	.|T;T	.|0.13538	.|2.58;2.58	5.8|5.8	3.79|3.79	0.43588|0.43588	.|Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.000000	.|0.32473	.|N	.|0.006049	T|T	0.37544|0.37544	0.1007|0.1007	M|M	0.89534|0.89534	3.04|3.04	0.41120|0.41120	D|D	0.985801|0.985801	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.70716	.|0.97;0.949	T|T	0.17561|0.17561	-1.0365|-1.0365	5|10	.|0.36615	.|T	.|0.2	.|.	6.7634|6.7634	0.23552|0.23552	0.0814:0.0:0.5872:0.3314|0.0814:0.0:0.5872:0.3314	.|.	.|1336;1336	.|Q9BZZ2;Q9BZZ2-3	.|SN_HUMAN;.	L|C	149|1336	.|ENSP00000341141:R1336C;ENSP00000202578:R1336C	.|ENSP00000202578:R1336C	P|R	-|-	2|1	0|0	SIGLEC1|SIGLEC1	3621192|3621192	0.816000|0.816000	0.29132|0.29132	0.998000|0.998000	0.56505|0.56505	0.992000|0.992000	0.81027|0.81027	1.458000|1.458000	0.35223|0.35223	0.733000|0.733000	0.32492|0.32492	0.655000|0.655000	0.94253|0.94253	CCG|CGT		0.682	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		5	14	0	0	0	0	5	14				
LAMP5	24141	broad.mit.edu	37	20	9498787	9498787	+	Silent	SNP	T	T	C			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr20:9498787T>C	ENST00000246070.2	+	5	1068	c.576T>C	c.(574-576)tcT>tcC	p.S192S	LAMP5_ENST00000427562.2_Silent_p.S148S	NM_012261.3	NP_036393.1	Q9UJQ1	LAMP5_HUMAN	lysosomal-associated membrane protein family, member 5	192						cytoplasmic vesicle membrane (GO:0030659)|dendrite membrane (GO:0032590)|early endosome membrane (GO:0031901)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|endosome membrane (GO:0010008)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)											CACTGGCCTCTAGTGATCCGC	0.512																																						uc002wni.1		NA																	0				upper_aerodigestive_tract(1)|lung(1)|breast(1)	3						c.(574-576)TCT>TCC		chromosome 20 open reading frame 103 precursor							131.0	104.0	113.0					20																	9498787		2203	4300	6503	SO:0001819	synonymous_variant	24141					integral to membrane		g.chr20:9498787T>C	AL121740	CCDS13106.1, CCDS56177.1	20p12	2013-03-14	2011-11-25	2011-11-25	ENSG00000125869	ENSG00000125869			16097	protein-coding gene	gene with protein product	"""brain and dendritic cell associated LAMP"""	614641	"""chromosome 20 open reading frame 103"""	C20orf103		11780052, 21642595	Standard	NM_012261		Approved	dJ1119D9.3, BAD-LAMP, UNC-43	uc002wni.2	Q9UJQ1	OTTHUMG00000031851	ENST00000246070.2:c.576T>C	20.37:g.9498787T>C						C20orf103_uc010zrc.1_Silent_p.S148S	p.S192S	NM_012261	NP_036393	Q9UJQ1	CT103_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		5	805	+			192			Extracellular (Potential).		B4DHZ7|B7Z9Z9	Silent	SNP	ENST00000246070.2	37	c.576T>C	CCDS13106.1																																																																																				0.512	LAMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077946.2	NM_012261		16	34	0	0	0	0	16	34				
FOXA2	3170	broad.mit.edu	37	20	22563619	22563619	+	Silent	SNP	G	G	C			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr20:22563619G>C	ENST00000377115.4	-	3	424	c.243C>G	c.(241-243)tcC>tcG	p.S81S	FOXA2_ENST00000419308.2_Silent_p.S87S	NM_153675.2	NP_710141.1	Q9Y261	FOXA2_HUMAN	forkhead box A2	81	Transactivation domain 1. {ECO:0000250}.				adult locomotory behavior (GO:0008344)|cell development (GO:0048468)|cell differentiation in hindbrain (GO:0021533)|cell fate specification (GO:0001708)|chromatin modification (GO:0016568)|connective tissue development (GO:0061448)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral neural tube patterning (GO:0021904)|ectoderm formation (GO:0001705)|endocrine pancreas development (GO:0031018)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|in utero embryonic development (GO:0001701)|lung epithelial cell differentiation (GO:0060487)|negative regulation of detection of glucose (GO:2000971)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter by glucose (GO:0000433)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|regulation of blood coagulation (GO:0030193)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in detection of glucose (GO:2000976)|response to interleukin-6 (GO:0070741)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					CCGCGCCGGGGGACATCCCCG	0.766																																						uc002wsn.2		NA																	0				ovary(2)|kidney(1)|central_nervous_system(1)	4						c.(241-243)TCC>TCG		forkhead box A2 isoform 2							14.0	16.0	15.0					20																	22563619		2142	4200	6342	SO:0001819	synonymous_variant	3170				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr20:22563619G>C	AF147787	CCDS13147.1, CCDS46585.1	20p11	2008-04-10		2002-09-20	ENSG00000125798	ENSG00000125798		"""Forkhead boxes"""	5022	protein-coding gene	gene with protein product		600288	"""hepatocyte nuclear factor 3, beta"""	HNF3B		9119385, 11875061	Standard	NM_153675		Approved		uc002wsm.3	Q9Y261	OTTHUMG00000032041	ENST00000377115.4:c.243C>G	20.37:g.22563619G>C						FOXA2_uc002wsm.2_Silent_p.S87S	p.S81S	NM_153675	NP_710141	Q9Y261	FOXA2_HUMAN			3	433	-	Lung NSC(19;0.188)		81			Transactivation domain 1 (By similarity).		Q8WUW4|Q96DF7	Silent	SNP	ENST00000377115.4	37	c.243C>G	CCDS13147.1																																																																																				0.766	FOXA2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078289.1			19	37	0	0	0	0	19	37				
CDK5RAP1	51654	broad.mit.edu	37	20	31967483	31967483	+	Silent	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr20:31967483C>T	ENST00000357886.4	-	9	1086	c.933G>A	c.(931-933)gtG>gtA	p.V311V	CDK5RAP1_ENST00000473997.1_Silent_p.V207V|CDK5RAP1_ENST00000544843.1_Silent_p.V297V|CDK5RAP1_ENST00000346416.2_Silent_p.V297V|CDK5RAP1_ENST00000477105.1_5'UTR|CDK5RAP1_ENST00000339269.5_Intron			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	311					brain development (GO:0007420)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|regulation of neuron differentiation (GO:0045664)|tRNA modification (GO:0006400)	cytoplasm (GO:0005737)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						CAAGAAGTGTCACTTCTTTCA	0.368																																						uc010gek.2		NA																	0				ovary(2)|skin(2)|lung(1)	5						c.(931-933)GTG>GTA		CDK5 regulatory subunit associated protein 1							88.0	85.0	86.0					20																	31967483		2203	4300	6503	SO:0001819	synonymous_variant	51654				brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity	g.chr20:31967483C>T	AF152097	CCDS13219.1, CCDS63255.1	20q11.21	2012-09-20	2002-07-22	2002-07-26	ENSG00000101391	ENSG00000101391			15880	protein-coding gene	gene with protein product		608200	"""chromosome 20 open reading frame 34"""	C20orf34		10721722, 11882646, 15329498	Standard	NM_016408		Approved	CGI-05, HSPC167, C42	uc002wyy.4	Q96SZ6	OTTHUMG00000032256	ENST00000357886.4:c.933G>A	20.37:g.31967483C>T						CDK5RAP1_uc002wyy.2_Silent_p.V207V|CDK5RAP1_uc002wyz.2_Silent_p.V297V|CDK5RAP1_uc002wza.2_Silent_p.V297V|CDK5RAP1_uc010gel.2_Silent_p.V206V|CDK5RAP1_uc010gem.2_Intron|CDK5RAP1_uc002wzc.1_Silent_p.V297V	p.V311V	NM_016408	NP_057492	Q96SZ6	CK5P1_HUMAN			9	1057	-			311					A8K7R0|Q5QP46|Q5QP47|Q5QP48|Q675N4|Q675N5|Q9BVG6|Q9BWZ5|Q9H859|Q9NZZ9|Q9Y3F0	Silent	SNP	ENST00000357886.4	37	c.933G>A																																																																																					0.368	CDK5RAP1-011	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078697.1	NM_016408		8	58	0	0	0	0	8	58				
CDK5RAP1	51654	broad.mit.edu	37	20	31967498	31967498	+	Splice_Site	SNP	C	C	G			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr20:31967498C>G	ENST00000357886.4	-	9	1072		c.e9-1		CDK5RAP1_ENST00000473997.1_Splice_Site|CDK5RAP1_ENST00000544843.1_Splice_Site|CDK5RAP1_ENST00000346416.2_Splice_Site|CDK5RAP1_ENST00000477105.1_Splice_Site|CDK5RAP1_ENST00000339269.5_Intron			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1						brain development (GO:0007420)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|regulation of neuron differentiation (GO:0045664)|tRNA modification (GO:0006400)	cytoplasm (GO:0005737)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						CTTTCAGCCCCTAAACATGGG	0.343																																						uc010gek.2		NA																	0				ovary(2)|skin(2)|lung(1)	5						c.e9-1		CDK5 regulatory subunit associated protein 1							69.0	66.0	67.0					20																	31967498		2203	4300	6503	SO:0001630	splice_region_variant	51654				brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity	g.chr20:31967498C>G	AF152097	CCDS13219.1, CCDS63255.1	20q11.21	2012-09-20	2002-07-22	2002-07-26	ENSG00000101391	ENSG00000101391			15880	protein-coding gene	gene with protein product		608200	"""chromosome 20 open reading frame 34"""	C20orf34		10721722, 11882646, 15329498	Standard	NM_016408		Approved	CGI-05, HSPC167, C42	uc002wyy.4	Q96SZ6	OTTHUMG00000032256	ENST00000357886.4:c.919-1G>C	20.37:g.31967498C>G						CDK5RAP1_uc002wyy.2_Splice_Site_p.G203_splice|CDK5RAP1_uc002wyz.2_Splice_Site_p.G293_splice|CDK5RAP1_uc002wza.2_Splice_Site_p.G293_splice|CDK5RAP1_uc010gel.2_Splice_Site_p.G202_splice|CDK5RAP1_uc010gem.2_Intron|CDK5RAP1_uc002wzc.1_Splice_Site_p.G293_splice	p.G307_splice	NM_016408	NP_057492	Q96SZ6	CK5P1_HUMAN			9	1043	-								A8K7R0|Q5QP46|Q5QP47|Q5QP48|Q675N4|Q675N5|Q9BVG6|Q9BWZ5|Q9H859|Q9NZZ9|Q9Y3F0	Splice_Site	SNP	ENST00000357886.4	37	c.919_splice		.	.	.	.	.	.	.	.	.	.	C	16.18	3.049930	0.55218	.	.	ENSG00000101391	ENST00000346416;ENST00000357886;ENST00000452723;ENST00000544843	.	.	.	5.07	4.12	0.48240	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5296	0.50601	0.0:0.9128:0.0:0.0872	.	.	.	.	.	-1	.	.	.	-	.	.	CDK5RAP1	31431159	1.000000	0.71417	0.996000	0.52242	0.871000	0.50021	7.381000	0.79718	1.487000	0.48415	0.561000	0.74099	.		0.343	CDK5RAP1-011	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078697.1	NM_016408	Intron	7	51	0	0	0	0	7	51				
GDF5	8200	broad.mit.edu	37	20	34021968	34021968	+	Silent	SNP	G	G	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr20:34021968G>A	ENST00000374372.1	-	4	1748	c.1245C>T	c.(1243-1245)gaC>gaT	p.D415D	GDF5_ENST00000374369.3_Silent_p.D415D|GDF5OS_ENST00000374375.1_Silent_p.S4S			P43026	GDF5_HUMAN	growth differentiation factor 5	415					cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix organization (GO:0030198)|forelimb morphogenesis (GO:0035136)|growth (GO:0040007)|hindlimb morphogenesis (GO:0035137)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuron differentiation (GO:0045666)|regulation of multicellular organism growth (GO:0040014)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			TGATCCAGTCGTCCCAGCCCA	0.607																																						uc010gfc.1		NA																	0					0						c.(1243-1245)GAC>GAT		growth differentiation factor 5 preproprotein							127.0	110.0	116.0					20																	34021968		2203	4300	6503	SO:0001819	synonymous_variant	8200				cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr20:34021968G>A	X80915	CCDS13254.1	20q11.2	2008-05-22	2007-04-12		ENSG00000125965	ENSG00000125965			4220	protein-coding gene	gene with protein product	"""cartilage-derived morphogenetic protein-1"""	601146				9288091, 9288098	Standard	NM_000557		Approved	CDMP1, BMP14	uc002xck.1	P43026	OTTHUMG00000032341	ENST00000374372.1:c.1245C>T	20.37:g.34021968G>A						uc002xcj.2_Missense_Mutation_p.V127I|GDF5_uc002xck.1_Silent_p.D415D|GDF5_uc010zvc.1_Silent_p.D415D	p.D415D	NM_000557	NP_000548	P43026	GDF5_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00663)		2	1486	-	Lung NSC(9;0.00642)|all_lung(11;0.0094)		415					E1P5Q2|Q96SB1	Silent	SNP	ENST00000374372.1	37	c.1245C>T	CCDS13254.1																																																																																				0.607	GDF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078875.2			128	58	0	0	0	0	128	58				
ZBTB46	140685	broad.mit.edu	37	20	62378483	62378483	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr20:62378483G>C	ENST00000245663.4	-	5	1720	c.1570C>G	c.(1570-1572)Cca>Gca	p.P524A	ZBTB46_ENST00000395104.1_Missense_Mutation_p.P524A|RP4-583P15.10_ENST00000433905.2_RNA|ZBTB46_ENST00000302995.2_Missense_Mutation_p.P524A|RP4-583P15.10_ENST00000447343.2_RNA	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	524					negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of dendritic cell differentiation (GO:2001200)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					AGCGCCTCTGGAGAGCCCTCG	0.736																																						uc002ygv.1		NA																	0				large_intestine(1)|ovary(1)	2						c.(1570-1572)CCA>GCA		zinc finger and BTB domain containing 46							16.0	18.0	17.0					20																	62378483		2190	4293	6483	SO:0001583	missense	140685				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr20:62378483G>C	AK131482	CCDS13538.1	20q13.33	2013-01-08	2006-09-19	2006-09-19	ENSG00000130584	ENSG00000130584		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16094	protein-coding gene	gene with protein product	"""BTB-ZF protein expressed in effector lymphocytes"""	614639	"""BTB (POZ) domain containing 4"""	ZNF340, BTBD4			Standard	NM_025224		Approved	FLJ13502, RINZF, BZEL	uc002ygv.2	Q86UZ6	OTTHUMG00000033001	ENST00000245663.4:c.1570C>G	20.37:g.62378483G>C	ENSP00000245663:p.Pro524Ala					ZBTB46_uc002ygu.2_RNA	p.P524A	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN			5	1771	-	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)		524					E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Missense_Mutation	SNP	ENST00000245663.4	37	c.1570C>G	CCDS13538.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.487654	0.44249	.	.	ENSG00000130584	ENST00000245663;ENST00000302995;ENST00000395104	T;T;T	0.11385	2.78;2.78;2.78	4.19	4.19	0.49359	.	0.167212	0.41500	D	0.000869	T	0.19087	0.0458	L	0.32530	0.975	0.45883	D	0.998737	D	0.76494	0.999	D	0.80764	0.994	T	0.04229	-1.0967	10	0.07990	T	0.79	.	15.5092	0.75766	0.0:0.0:1.0:0.0	.	524	Q86UZ6	ZBT46_HUMAN	A	524	ENSP00000245663:P524A;ENSP00000303102:P524A;ENSP00000378536:P524A	ENSP00000245663:P524A	P	-	1	0	ZBTB46	61848927	1.000000	0.71417	0.841000	0.33234	0.200000	0.23975	4.866000	0.63005	1.863000	0.54032	0.462000	0.41574	CCA		0.736	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080232.2	NM_025224		5	13	0	0	0	0	5	13				
KRTAP15-1	254950	broad.mit.edu	37	21	31812926	31812926	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr21:31812926C>T	ENST00000334067.3	+	1	330	c.281C>T	c.(280-282)tCc>tTc	p.S94F		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	94						intermediate filament (GO:0005882)				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						TACATAAGATCCCTTGGATGT	0.502																																						uc002yod.2		NA																	0					0						c.(280-282)TCC>TTC		keratin associated protein 15-1							139.0	130.0	133.0					21																	31812926		2203	4300	6503	SO:0001583	missense	254950					intermediate filament		g.chr21:31812926C>T	AP001708	CCDS13593.1	21q22.1	2008-05-21			ENSG00000186970	ENSG00000186970		"""Keratin associated proteins"""	18927	protein-coding gene	gene with protein product						12359730	Standard	NM_181623		Approved	KAP15.1	uc002yod.3	Q3LI76	OTTHUMG00000057784	ENST00000334067.3:c.281C>T	21.37:g.31812926C>T	ENSP00000334866:p.Ser94Phe						p.S94F	NM_181623	NP_853654	Q3LI76	KR151_HUMAN			1	281	+			94					Q2M3F4	Missense_Mutation	SNP	ENST00000334067.3	37	c.281C>T	CCDS13593.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.081303	0.55753	.	.	ENSG00000186970	ENST00000334067	T	0.03553	3.89	5.35	4.46	0.54185	.	0.132682	0.34338	N	0.004056	T	0.14442	0.0349	M	0.65498	2.005	0.09310	N	0.999999	D	0.64830	0.994	D	0.70716	0.97	T	0.01532	-1.1331	10	0.62326	D	0.03	-6.5632	12.0312	0.53399	0.1732:0.8268:0.0:0.0	.	94	Q3LI76	KR151_HUMAN	F	94	ENSP00000334866:S94F	ENSP00000334866:S94F	S	+	2	0	KRTAP15-1	30734797	0.253000	0.23982	0.062000	0.19696	0.009000	0.06853	1.167000	0.31847	1.557000	0.49525	-0.182000	0.12963	TCC		0.502	KRTAP15-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128236.1			12	86	0	0	0	0	12	86				
POFUT2	23275	broad.mit.edu	37	21	46685544	46685544	+	Silent	SNP	A	A	G			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr21:46685544A>G	ENST00000349485.5	-	9	1169	c.1143T>C	c.(1141-1143)ttT>ttC	p.F381F	POFUT2_ENST00000471540.1_5'UTR|POFUT2_ENST00000331343.7_3'UTR	NM_133635.4	NP_598368.2	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	381					fucose metabolic process (GO:0006004)|mesoderm formation (GO:0001707)|protein O-linked fucosylation (GO:0036066)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of gene expression (GO:0010468)|regulation of secretion (GO:0051046)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	peptide-O-fucosyltransferase activity (GO:0046922)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		AGGTGCCAATAAAAAACCTGC	0.498																																						uc002zhc.2		NA																	0					0						c.(1141-1143)TTT>TTC		protein O-fucosyltransferase 2 isoform C							55.0	59.0	58.0					21																	46685544		2203	4300	6503	SO:0001819	synonymous_variant	23275				fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity	g.chr21:46685544A>G	AJ203079	CCDS13719.1, CCDS13721.1	21q22.3	2013-03-06	2004-06-07	2004-06-09	ENSG00000186866	ENSG00000186866	2.4.1.221	"""Fucosyltransferases"""	14683	protein-coding gene	gene with protein product	"""peptide-O-fucosyltransferase"", ""GDP-fucose protein O-fucosyltransferase 2"""	610249	"""chromosome 21 open reading frame 80"""	C21orf80			Standard	NM_133635		Approved	KIAA0958, FUT13	uc002zhc.3	Q9Y2G5	OTTHUMG00000084874	ENST00000349485.5:c.1143T>C	21.37:g.46685544A>G						POFUT2_uc002zha.2_RNA|POFUT2_uc002zhb.2_RNA|POFUT2_uc002zhd.2_3'UTR	p.F381F	NM_133635	NP_598368	Q9Y2G5	OFUT2_HUMAN		Colorectal(79;0.243)	9	1168	-			381					Q6PJV1|Q7Z4N0|Q8WWU6|Q9BQS4|Q9BQS5|Q9UFY3	Silent	SNP	ENST00000349485.5	37	c.1143T>C	CCDS13719.1																																																																																				0.498	POFUT2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192573.2	NM_015227		12	13	0	0	0	0	12	13				
MYO18B	84700	broad.mit.edu	37	22	26317306	26317306	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr22:26317306T>C	ENST00000407587.2	+	34	5619	c.5450T>C	c.(5449-5451)cTc>cCc	p.L1817P	MYO18B_ENST00000536101.1_Missense_Mutation_p.L1816P|MYO18B_ENST00000335473.7_Missense_Mutation_p.L1816P			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1816	Tail.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GACGTGCAGCTCCTTCTGGGC	0.552																																						uc003abz.1		NA																	0				ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						c.(5446-5448)CTC>CCC		myosin XVIIIB							50.0	53.0	52.0					22																	26317306		2090	4222	6312	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26317306T>C	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.5450T>C	22.37:g.26317306T>C	ENSP00000386096:p.Leu1817Pro					MYO18B_uc003aca.1_Missense_Mutation_p.L1697P|MYO18B_uc010guy.1_Missense_Mutation_p.L1698P|MYO18B_uc010guz.1_Missense_Mutation_p.L1696P|MYO18B_uc011aka.1_Missense_Mutation_p.L970P|MYO18B_uc011akb.1_Missense_Mutation_p.L1329P	p.L1816P	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			34	5697	+			1816			Tail.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.5447T>C		.	.	.	.	.	.	.	.	.	.	T	19.50	3.838974	0.71373	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.87571	-2.24;-2.24;-2.27	5.23	5.23	0.72850	.	0.492861	0.19347	N	0.116508	D	0.89795	0.6818	L	0.53249	1.67	0.58432	D	0.999999	D;P;P;P	0.55385	0.971;0.542;0.616;0.671	P;B;P;P	0.57204	0.815;0.377;0.477;0.581	D	0.90226	0.4275	10	0.66056	D	0.02	.	13.1543	0.59508	0.0:0.0:0.0:1.0	.	1329;1816;1817;1816	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	P	1816;1816;1817	ENSP00000441229:L1816P;ENSP00000334563:L1816P;ENSP00000386096:L1817P	ENSP00000334563:L1816P	L	+	2	0	MYO18B	24647306	1.000000	0.71417	1.000000	0.80357	0.620000	0.37586	5.071000	0.64382	1.994000	0.58287	0.529000	0.55759	CTC		0.552	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		6	1	0	0	0	0	6	1				
TPST2	8459	broad.mit.edu	37	22	26937142	26937142	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr22:26937142G>C	ENST00000338754.4	-	3	725	c.455C>G	c.(454-456)gCc>gGc	p.A152G	TPST2_ENST00000398110.2_Missense_Mutation_p.A152G|TPST2_ENST00000403880.1_Missense_Mutation_p.A152G	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	152					fusion of sperm to egg plasma membrane (GO:0007342)|peptidyl-tyrosine sulfation (GO:0006478)|prevention of polyspermy (GO:0060468)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)			central_nervous_system(1)|large_intestine(1)|lung(5)	7						GAGCACGCGGGCCGGCTCTCC	0.637																																						uc003acv.2		NA																	0				central_nervous_system(1)	1						c.(454-456)GCC>GGC		tyrosylprotein sulfotransferase 2							76.0	59.0	65.0					22																	26937142		2203	4300	6503	SO:0001583	missense	8459				peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity	g.chr22:26937142G>C	AF049891	CCDS13839.1	22q12.1	2012-12-13			ENSG00000128294	ENSG00000128294	2.8.2.20	"""Sulfotransferases, membrane-bound"""	12021	protein-coding gene	gene with protein product	"""transport and golgi organization 13 homolog B (Drosophila)"""	603126				9736702, 9733778	Standard	NM_003595		Approved	TANGO13B	uc003acx.3	O60704	OTTHUMG00000150987	ENST00000338754.4:c.455C>G	22.37:g.26937142G>C	ENSP00000339813:p.Ala152Gly					TPST2_uc003acw.2_Missense_Mutation_p.A152G|TPST2_uc003acx.2_Missense_Mutation_p.A152G|TPST2_uc011akf.1_Missense_Mutation_p.A152G	p.A152G	NM_003595	NP_003586	O60704	TPST2_HUMAN			2	623	-			152			Lumenal (Potential).		B3KQA7|Q6FI98|Q9H0V4	Missense_Mutation	SNP	ENST00000338754.4	37	c.455C>G	CCDS13839.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288985	0.80914	.	.	ENSG00000128294	ENST00000338754;ENST00000398110;ENST00000403880;ENST00000528868	T;T;T	0.42131	0.98;0.98;0.98	5.33	5.33	0.75918	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	T	0.70176	0.3194	M	0.87180	2.865	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.75679	-0.3234	10	0.66056	D	0.02	-40.8943	18.0127	0.89229	0.0:0.0:1.0:0.0	.	152	O60704	TPST2_HUMAN	G	152;152;152;85	ENSP00000339813:A152G;ENSP00000381180:A152G;ENSP00000385192:A152G	ENSP00000339813:A152G	A	-	2	0	TPST2	25267142	1.000000	0.71417	0.857000	0.33713	0.837000	0.47467	9.116000	0.94341	2.501000	0.84356	0.609000	0.83330	GCC		0.637	TPST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320820.3	NM_003595		26	47	0	0	0	0	26	47				
KREMEN1	83999	broad.mit.edu	37	22	29490261	29490261	+	Missense_Mutation	SNP	A	A	G	rs35199515	byFrequency	TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr22:29490261A>G	ENST00000407188.1	+	2	107	c.107A>G	c.(106-108)aAt>aGt	p.N36S	KREMEN1_ENST00000400335.4_Missense_Mutation_p.N38S|KREMEN1_ENST00000327813.5_Missense_Mutation_p.N38S|KREMEN1_ENST00000400338.2_Missense_Mutation_p.N38S			Q96MU8	KREM1_HUMAN	kringle containing transmembrane protein 1	36	Kringle. {ECO:0000255|PROSITE- ProRule:PRU00121}.				cell communication (GO:0007154)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						TTCACAGCCAATGGTGCGGAT	0.428													A|||	2	0.000399361	0.0015	0.0	5008	,	,		17154	0.0		0.0	False		,,,				2504	0.0					uc011akm.1		NA																	0				ovary(3)|lung(2)	5						c.(112-114)AAT>AGT		kringle-containing transmembrane protein 1		A	SER/ASN,SER/ASN	1,3739		0,1,1869	122.0	112.0	115.0		113,113	5.0	1.0	22	dbSNP_126	115	1,8239		0,1,4119	no	missense,missense	KREMEN1	NM_001039570.2,NM_032045.4	46,46	0,2,5988	GG,GA,AA		0.0121,0.0267,0.0167	probably-damaging,probably-damaging	38/459,38/493	29490261	2,11978	1870	4120	5990	SO:0001583	missense	83999				cell communication|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane|membrane fraction	protein binding	g.chr22:29490261A>G	AB059618	CCDS43000.1, CCDS13849.1, CCDS43000.2	22q12.1	2008-03-27	2002-11-13	2002-11-15	ENSG00000183762	ENSG00000183762			17550	protein-coding gene	gene with protein product		609898	"""kringle containing transmembrane protein"""	KREMEN		11267660	Standard	NM_001039570		Approved	KRM1	uc011akm.1	Q96MU8	OTTHUMG00000030987	ENST00000407188.1:c.107A>G	22.37:g.29490261A>G	ENSP00000385431:p.Asn36Ser					KREMEN1_uc003ael.2_Missense_Mutation_p.N38S|KREMEN1_uc011akn.1_5'UTR	p.N38S	NM_032045	NP_114434	Q96MU8	KREM1_HUMAN			2	126	+			36			Extracellular (Potential).|Kringle.		B0QY46|B0QY47|B1AJR5|Q5TIB9|Q6P3X6|Q9BY70|Q9UGS5|Q9UGU1	Missense_Mutation	SNP	ENST00000407188.1	37	c.113A>G	CCDS43000.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	20.5	3.995836	0.74703	2.67E-4	1.21E-4	ENSG00000183762	ENST00000400335;ENST00000400338;ENST00000327813;ENST00000407188	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	4.99	4.99	0.66335	.	0.000000	0.64402	D	0.000003	T	0.72179	0.3428	L	0.45470	1.425	0.80722	D	1	D;D	0.71674	0.998;0.996	D;D	0.80764	0.994;0.98	T	0.74179	-0.3749	10	0.59425	D	0.04	.	12.9508	0.58399	1.0:0.0:0.0:0.0	rs35199515	38;38	Q96MU8-2;Q96MU8-3	.;.	S	38;38;38;36	ENSP00000383189:N38S;ENSP00000383192:N38S;ENSP00000331242:N38S;ENSP00000385431:N36S	ENSP00000331242:N38S	N	+	2	0	KREMEN1	27820261	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.919000	0.92770	2.017000	0.59298	0.528000	0.53228	AAT		0.428	KREMEN1-004	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320947.1			36	56	0	0	0	0	36	56				
MIEF1	54471	broad.mit.edu	37	22	39908272	39908272	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr22:39908272A>T	ENST00000325301.2	+	5	782	c.358A>T	c.(358-360)Agg>Tgg	p.R120W	MIEF1_ENST00000404569.1_Missense_Mutation_p.R120W|MIEF1_ENST00000402881.1_Missense_Mutation_p.R120W	NM_019008.4	NP_061881.2	Q9NQG6	MID51_HUMAN	mitochondrial elongation factor 1	120	Dimerization.				mitochondrial fission (GO:0000266)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|GDP binding (GO:0019003)|identical protein binding (GO:0042802)										GCCAGTGGCCAGGAAGGGCCA	0.597																																						uc003axx.2		NA																	0				central_nervous_system(1)	1						c.(358-360)AGG>TGG		hypothetical protein LOC54471							32.0	36.0	34.0					22																	39908272		2203	4300	6503	SO:0001583	missense	54471					integral to membrane|mitochondrion		g.chr22:39908272A>T	AL365515	CCDS13995.1	22q13.1	2013-09-23	2013-09-23	2013-09-23	ENSG00000100335	ENSG00000100335			25979	protein-coding gene	gene with protein product		615497	"""Smith-Magenis syndrome chromosome region, candidate 7-like"""	SMCR7L		21508961, 21701560	Standard	NM_019008		Approved	FLJ20232, MiD51	uc003axx.3	Q9NQG6	OTTHUMG00000151105	ENST00000325301.2:c.358A>T	22.37:g.39908272A>T	ENSP00000327124:p.Arg120Trp					SMCR7L_uc003axw.2_Missense_Mutation_p.R120W|SMCR7L_uc010gxz.1_Intron|SMCR7L_uc003axy.2_Intron	p.R120W	NM_019008	NP_061881	Q9NQG6	SMC7L_HUMAN			5	856	+	Melanoma(58;0.04)		120					Q7L890|Q9BUI3	Missense_Mutation	SNP	ENST00000325301.2	37	c.358A>T	CCDS13995.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.214353	0.79352	.	.	ENSG00000100335	ENST00000402881;ENST00000325301;ENST00000404569	T;T;T	0.12569	2.67;2.68;2.68	5.87	4.83	0.62350	.	0.210361	0.50627	D	0.000114	T	0.13713	0.0332	L	0.40543	1.245	0.44395	D	0.997306	P;B	0.41643	0.758;0.008	B;B	0.39094	0.29;0.005	T	0.01378	-1.1370	10	0.66056	D	0.02	-23.3022	13.2013	0.59769	0.8669:0.1331:0.0:0.0	.	120;120	Q9NQG6;B0QY95	MID51_HUMAN;.	W	120	ENSP00000385110:R120W;ENSP00000327124:R120W;ENSP00000385191:R120W	ENSP00000327124:R120W	R	+	1	2	SMCR7L	38238218	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.971000	0.49248	1.024000	0.39682	0.528000	0.53228	AGG		0.597	MIEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321325.1	NM_019008		24	32	0	0	0	0	24	32				
CACNA1I	8911	broad.mit.edu	37	22	40060149	40060149	+	Silent	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr22:40060149C>T	ENST00000402142.3	+	20	3651	c.3651C>T	c.(3649-3651)ggC>ggT	p.G1217G	CACNA1I_ENST00000400164.3_Silent_p.G1182G|CACNA1I_ENST00000407673.1_Silent_p.G1182G|CACNA1I_ENST00000336649.4_Silent_p.G1223G|CACNA1I_ENST00000401624.1_Silent_p.G1217G|CACNA1I_ENST00000404898.1_Silent_p.G1182G	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1217					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	TCTTCGTGGGCGAGATGACAT	0.612																																						uc003ayc.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(3649-3651)GGC>GGT		calcium channel, voltage-dependent, T type,	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						79.0	82.0	81.0					22																	40060149		1958	4149	6107	SO:0001819	synonymous_variant	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40060149C>T	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.3651C>T	22.37:g.40060149C>T						CACNA1I_uc003ayd.2_Silent_p.G1182G|CACNA1I_uc003aye.2_Silent_p.G1132G|CACNA1I_uc003ayf.2_Silent_p.G1097G	p.G1217G	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN			20	3651	+	Melanoma(58;0.0749)		1217			Helical; Name=S2 of repeat III; (Potential).|III.		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Silent	SNP	ENST00000402142.3	37	c.3651C>T	CCDS46710.1																																																																																				0.612	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		6	19	0	0	0	0	6	19				
ZC3H7B	23264	broad.mit.edu	37	22	41753426	41753426	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr22:41753426G>T	ENST00000352645.4	+	23	3184	c.2927G>T	c.(2926-2928)gGg>gTg	p.G976V	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.G976V	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	0					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GCCACCACTGGGGAGTAGGGC	0.662																																						uc003azw.2		NA																	0				central_nervous_system(1)	1						c.(2926-2928)GGG>GTG		zinc finger CCCH-type containing 7B							44.0	54.0	51.0					22																	41753426		2186	4266	6452	SO:0001583	missense	23264				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr22:41753426G>T		CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.2927G>T	22.37:g.41753426G>T	ENSP00000345793:p.Gly976Val					ZC3H7B_uc010gyl.1_Intron	p.G976V	NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN			23	3143	+			992					A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Missense_Mutation	SNP	ENST00000352645.4	37	c.2927G>T	CCDS14013.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.079650	0.36662	.	.	ENSG00000100403	ENST00000352645;ENST00000351589	T;T	0.12569	2.67;2.67	4.48	-0.627	0.11541	.	0.778689	0.11192	N	0.589825	T	0.08492	0.0211	.	.	.	0.09310	N	0.999998	B	0.15141	0.012	B	0.17098	0.017	T	0.35895	-0.9770	9	0.87932	D	0	-2.4358	2.191	0.03899	0.1007:0.1707:0.3789:0.3497	.	976	Q9UGR2-2	.	V	976	ENSP00000345793:G976V;ENSP00000263243:G976V	ENSP00000263243:G976V	G	+	2	0	ZC3H7B	40083372	0.069000	0.21087	0.020000	0.16555	0.100000	0.18952	0.289000	0.18957	0.193000	0.20303	0.305000	0.20034	GGG		0.662	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	NM_017590		40	75	1	0	1.47e-25	1.78e-25	40	75				
MRPS25	64432	broad.mit.edu	37	3	15100956	15100956	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr3:15100956T>A	ENST00000253686.2	-	2	301	c.161A>T	c.(160-162)cAg>cTg	p.Q54L	MRPS25_ENST00000449354.2_Missense_Mutation_p.Q54L|MRPS25_ENST00000444840.2_Missense_Mutation_p.Q54L	NM_022497.3	NP_071942.1	P82663	RT25_HUMAN	mitochondrial ribosomal protein S25	54						mitochondrion (GO:0005739)|ribosome (GO:0005840)				large_intestine(1)|lung(1)	2						GTATTGAATCTGAGGTATGTT	0.423																																						uc003bzl.2		NA																	0					0						c.(160-162)CAG>CTG		mitochondrial ribosomal protein S25							96.0	91.0	93.0					3																	15100956		2203	4300	6503	SO:0001583	missense	64432				translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr3:15100956T>A	AB061208	CCDS2622.1	3p25	2012-09-13			ENSG00000131368	ENSG00000131368		"""Mitochondrial ribosomal proteins / small subunits"""	14511	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S25"""	611987				11279123	Standard	NM_022497		Approved	MRP-S25, FLJ00023, DKFZp313H0817, RPMS25	uc003bzl.3	P82663	OTTHUMG00000129836	ENST00000253686.2:c.161A>T	3.37:g.15100956T>A	ENSP00000253686:p.Gln54Leu					MRPS25_uc011avl.1_Missense_Mutation_p.Q54L|MRPS25_uc011avm.1_Missense_Mutation_p.Q54L	p.Q54L	NM_022497	NP_071942	P82663	RT25_HUMAN			2	276	-			54					B4DFJ5|B4DQG6|Q9H7P5	Missense_Mutation	SNP	ENST00000253686.2	37	c.161A>T	CCDS2622.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.318913	0.81469	.	.	ENSG00000131368	ENST00000253686;ENST00000449354;ENST00000444840	.	.	.	5.09	5.09	0.68999	Ribosomal protein/NADH dehydrogenase domain (2);Thioredoxin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.74680	0.3748	M	0.83774	2.66	0.80722	D	1	P;D;B	0.53312	0.669;0.959;0.152	B;P;B	0.52957	0.433;0.714;0.313	T	0.80151	-0.1502	9	0.87932	D	0	-30.9273	14.5115	0.67791	0.0:0.0:0.0:1.0	.	54;54;54	B4DFJ5;B4DQG6;P82663	.;.;RT25_HUMAN	L	54	.	ENSP00000253686:Q54L	Q	-	2	0	MRPS25	15075960	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	7.660000	0.83776	1.905000	0.55150	0.402000	0.26972	CAG		0.423	MRPS25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252076.2	NM_022497		5	11	0	0	0	0	5	11				
PTPN23	25930	broad.mit.edu	37	3	47450995	47450995	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr3:47450995C>T	ENST00000265562.4	+	18	1963	c.1886C>T	c.(1885-1887)gCa>gTa	p.A629V	PTPN23_ENST00000431726.1_Missense_Mutation_p.A503V	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	629					cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GTCCTCTGTGCACTGACAGAG	0.597																																						uc003crf.1		NA																	0				breast(1)|central_nervous_system(1)|skin(1)	3						c.(1885-1887)GCA>GTA		protein tyrosine phosphatase, non-receptor type							47.0	48.0	47.0					3																	47450995		2203	4300	6503	SO:0001583	missense	25930				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity	g.chr3:47450995C>T	AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.1886C>T	3.37:g.47450995C>T	ENSP00000265562:p.Ala629Val					PTPN23_uc011baw.1_Missense_Mutation_p.A594V|PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Missense_Mutation_p.A499V	p.A629V	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	18	1982	+			629					A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Missense_Mutation	SNP	ENST00000265562.4	37	c.1886C>T	CCDS2754.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274032	0.59649	.	.	ENSG00000076201	ENST00000456408;ENST00000265562	T	0.31510	1.49	4.22	4.22	0.49857	.	0.117466	0.56097	D	0.000026	T	0.52370	0.1730	M	0.62266	1.93	0.80722	D	1	B;D	0.76494	0.265;0.999	P;D	0.83275	0.557;0.996	T	0.55218	-0.8175	10	0.54805	T	0.06	-14.207	15.5092	0.75766	0.0:1.0:0.0:0.0	.	503;629	B4DST5;Q9H3S7	.;PTN23_HUMAN	V	594;629	ENSP00000265562:A629V	ENSP00000265562:A629V	A	+	2	0	PTPN23	47425999	1.000000	0.71417	0.123000	0.21794	0.007000	0.05969	7.392000	0.79840	2.181000	0.69327	0.462000	0.41574	GCA		0.597	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	NM_015466		20	3	0	0	0	0	20	3				
FAM19A4	151647	broad.mit.edu	37	3	68802098	68802098	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr3:68802098C>T	ENST00000295569.7	-	4	694	c.202G>A	c.(202-204)Gaa>Aaa	p.E68K		NM_001005527.2|NM_182522.4	NP_001005527.1|NP_872328.1	Q96LR4	F19A4_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A4	68						extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2)	10		Lung NSC(201;0.0198)		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)		GACCGCTCTTCTATGCGGTTC	0.537																																						uc003dnh.1		NA																	0				skin(2)	2						c.(202-204)GAA>AAA		family with sequence similarity 19 (chemokine							99.0	86.0	90.0					3																	68802098		2203	4300	6503	SO:0001583	missense	151647					extracellular region		g.chr3:68802098C>T	AY325117	CCDS2907.1	3p14.1	2014-08-14			ENSG00000163377	ENSG00000163377			21591	protein-coding gene	gene with protein product						15028294, 25109685	Standard	NM_182522		Approved	TAFA-4	uc021xah.1	Q96LR4	OTTHUMG00000158744	ENST00000295569.7:c.202G>A	3.37:g.68802098C>T	ENSP00000295569:p.Glu68Lys					FAM19A4_uc003dni.1_Missense_Mutation_p.E68K	p.E68K	NM_182522	NP_872328	Q96LR4	F19A4_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)	4	645	-		Lung NSC(201;0.0198)	68					A8MVT2	Missense_Mutation	SNP	ENST00000295569.7	37	c.202G>A	CCDS2907.1	.	.	.	.	.	.	.	.	.	.	C	36	5.917786	0.97105	.	.	ENSG00000163377	ENST00000295569;ENST00000495737	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.83027	0.5165	M	0.77103	2.36	0.58432	D	0.999991	D	0.89917	1.0	D	0.97110	1.0	D	0.84515	0.0624	9	0.66056	D	0.02	-23.6496	19.3109	0.94187	0.0:1.0:0.0:0.0	.	68	Q96LR4	F19A4_HUMAN	K	68	.	ENSP00000295569:E68K	E	-	1	0	FAM19A4	68884788	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.764000	0.85297	2.555000	0.86185	0.591000	0.81541	GAA		0.537	FAM19A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352002.1	NM_182522		21	25	0	0	0	0	21	25				
ARL6	84100	broad.mit.edu	37	3	97503853	97503853	+	Silent	SNP	T	T	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr3:97503853T>A	ENST00000463745.1	+	5	786	c.309T>A	c.(307-309)gtT>gtA	p.V103V	ARL6_ENST00000496713.1_3'UTR|ARL6_ENST00000394206.1_Silent_p.V103V|ARL6_ENST00000335979.2_Silent_p.V103V	NM_001278293.1	NP_001265222.1	Q9H0F7	ARL6_HUMAN	ADP-ribosylation factor-like 6	103					cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|fat cell differentiation (GO:0045444)|melanosome transport (GO:0032402)|protein polymerization (GO:0051258)|protein targeting to membrane (GO:0006612)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)|Wnt signaling pathway (GO:0016055)	axonemal microtubule (GO:0005879)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane coat (GO:0030117)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)			large_intestine(1)|lung(4)	5		Lung NSC(201;0.0193)|Prostate(884;0.174)		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)		TAAGAATGGTTGTGGCCAAAG	0.323																																						uc003drv.2		NA																	0					0						c.(307-309)GTT>GTA		ADP-ribosylation factor-like 6							166.0	166.0	166.0					3																	97503853		2203	4300	6503	SO:0001819	synonymous_variant	84100	Bardet-Biedl_syndrome			cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception|Wnt receptor signaling pathway	axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body	GTP binding|metal ion binding|phospholipid binding|protein binding	g.chr3:97503853T>A	BC024239	CCDS2928.1	3q11.2	2014-05-09			ENSG00000113966	ENSG00000113966		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	13210	protein-coding gene	gene with protein product		608845		BBS3		15258860, 15314642, 21282186	Standard	NM_032146		Approved	RP55	uc003drv.3	Q9H0F7	OTTHUMG00000159189	ENST00000463745.1:c.309T>A	3.37:g.97503853T>A						ARL6_uc003drw.2_RNA|ARL6_uc003dru.2_Silent_p.V103V|ARL6_uc010hoy.2_Silent_p.V103V	p.V103V	NM_177976	NP_816931	Q9H0F7	ARL6_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)	6	622	+		Lung NSC(201;0.0193)|Prostate(884;0.174)	103					A8KA93|D3DN31	Silent	SNP	ENST00000463745.1	37	c.309T>A	CCDS2928.1																																																																																				0.323	ARL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353756.1	NM_032146		28	24	0	0	0	0	28	24				
NXPE3	91775	broad.mit.edu	37	3	101535759	101535759	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr3:101535759C>G	ENST00000491511.2	+	7	1999	c.1043C>G	c.(1042-1044)aCa>aGa	p.T348R	NXPE3_ENST00000273347.5_Missense_Mutation_p.T348R|NXPE3_ENST00000422132.1_Missense_Mutation_p.T348R|NXPE3_ENST00000477909.1_Missense_Mutation_p.T348R	NM_001134456.1	NP_001127928.1	Q969Y0	NXPE3_HUMAN	neurexophilin and PC-esterase domain family, member 3	348						extracellular region (GO:0005576)											GACAACATTACAGAGTGCTTA	0.408																																						uc003dvn.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1042-1044)ACA>AGA		hypothetical protein LOC91775 precursor							183.0	178.0	180.0					3																	101535759		2203	4300	6503	SO:0001583	missense	91775					extracellular region		g.chr3:101535759C>G	AK054664	CCDS2945.1	3q12.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000144815	ENSG00000144815			28238	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member C"""	FAM55C		12975309	Standard	NM_001134456		Approved	MGC15606	uc003dvn.3	Q969Y0	OTTHUMG00000159179	ENST00000491511.2:c.1043C>G	3.37:g.101535759C>G	ENSP00000417485:p.Thr348Arg					FAM55C_uc010hpn.2_Missense_Mutation_p.T348R	p.T348R	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN			7	1680	+			348					A8K0X4|D3DN53|Q7Z2S8	Missense_Mutation	SNP	ENST00000491511.2	37	c.1043C>G	CCDS2945.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.196625	0.58126	.	.	ENSG00000144815	ENST00000273347;ENST00000491511;ENST00000477909;ENST00000422132	T;T;T;T	0.10960	2.82;2.82;2.82;2.82	5.86	5.86	0.93980	.	0.348037	0.35378	N	0.003249	T	0.08714	0.0216	N	0.25332	0.735	0.35382	D	0.790031	P	0.47841	0.901	B	0.43103	0.408	T	0.30504	-0.9976	10	0.15952	T	0.53	-8.4259	11.7171	0.51659	0.0:0.8069:0.1254:0.0676	.	348	Q969Y0	FA55C_HUMAN	R	348	ENSP00000273347:T348R;ENSP00000417485:T348R;ENSP00000418369:T348R;ENSP00000396421:T348R	ENSP00000273347:T348R	T	+	2	0	FAM55C	103018449	0.601000	0.26907	1.000000	0.80357	0.984000	0.73092	1.555000	0.36277	2.937000	0.99478	0.650000	0.86243	ACA		0.408	NXPE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353711.2	NM_145037		29	113	0	0	0	0	29	113				
UROC1	131669	broad.mit.edu	37	3	126219567	126219567	+	Silent	SNP	A	A	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr3:126219567A>T	ENST00000290868.2	-	11	1169	c.1116T>A	c.(1114-1116)ccT>ccA	p.P372P	UROC1_ENST00000383579.3_Silent_p.P432P	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	372					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)			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)		TGAACACAGCAGGGTTGGAGG	0.597																																						uc003eiz.1		NA																	0				ovary(1)	1						c.(1114-1116)CCT>CCA		urocanase domain containing 1 isoform 1							147.0	140.0	143.0					3																	126219567		2203	4300	6503	SO:0001819	synonymous_variant	131669				histidine catabolic process	cytosol	urocanate hydratase activity	g.chr3:126219567A>T	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.1116T>A	3.37:g.126219567A>T						UROC1_uc010hsi.1_Silent_p.P432P	p.P372P	NM_144639	NP_653240	Q96N76	HUTU_HUMAN		GBM - Glioblastoma multiforme(114;0.17)	11	1148	-			372					E9PE13|Q14C64|Q68CJ7	Silent	SNP	ENST00000290868.2	37	c.1116T>A	CCDS3038.1																																																																																				0.597	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	NM_144639		29	113	0	0	0	0	29	113				
COL6A6	131873	broad.mit.edu	37	3	130293063	130293063	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr3:130293063G>T	ENST00000358511.6	+	7	3272	c.3241G>T	c.(3241-3243)Gct>Tct	p.A1081S	COL6A6_ENST00000453409.2_Missense_Mutation_p.A1081S	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1081	Nonhelical region.|VWFA 6. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ACACATCGGTGCTGCACTCAG	0.478																																						uc010htl.2		NA																	0				ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(3241-3243)GCT>TCT		collagen type VI alpha 6 precursor							98.0	98.0	98.0					3																	130293063		2007	4178	6185	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130293063G>T	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.3241G>T	3.37:g.130293063G>T	ENSP00000351310:p.Ala1081Ser						p.A1081S	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			7	3272	+			1081			Nonhelical region.|VWFA 6.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.3241G>T	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	0.457	-0.890840	0.02491	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.83250	-1.7;-1.7	5.15	4.27	0.50696	von Willebrand factor, type A (3);	0.214102	0.32819	N	0.005606	T	0.70193	0.3196	L	0.35793	1.09	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	T	0.51293	-0.8724	10	0.08837	T	0.75	.	7.4191	0.27061	0.1127:0.0:0.7281:0.1592	.	1081	A6NMZ7	CO6A6_HUMAN	S	1081	ENSP00000351310:A1081S;ENSP00000399236:A1081S	ENSP00000351310:A1081S	A	+	1	0	COL6A6	131775753	0.001000	0.12720	0.002000	0.10522	0.008000	0.06430	1.194000	0.32174	1.299000	0.44798	0.561000	0.74099	GCT		0.478	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		12	60	1	0	9.31e-06	1.01e-05	12	60				
SIAH2	6478	broad.mit.edu	37	3	150460290	150460290	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr3:150460290A>T	ENST00000312960.3	-	2	1140	c.613T>A	c.(613-615)Ttt>Att	p.F205I		NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	205	SBD.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|cellular protein catabolic process (GO:0044257)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|regulation of protein ubiquitination (GO:0031396)|regulation of RNA biosynthetic process (GO:2001141)|small GTPase mediated signal transduction (GO:0007264)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GTAGCTAGAAAGACGATGTCT	0.522																																						uc003eyi.2		NA																	0				ovary(1)|lung(1)	2						c.(613-615)TTT>ATT		seven in absentia homolog 2							123.0	114.0	117.0					3																	150460290		2203	4300	6503	SO:0001583	missense	6478				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:150460290A>T	U76248	CCDS3152.1	3q25	2012-02-23	2012-02-23		ENSG00000181788	ENSG00000181788	6.3.2.1		10858	protein-coding gene	gene with protein product		602213	"""seven in absentia (Drosophila) homolog 2"", ""seven in absentia homolog 2 (Drosophila)"""			9334332	Standard	NM_005067		Approved		uc003eyi.3	O43255	OTTHUMG00000159847	ENST00000312960.3:c.613T>A	3.37:g.150460290A>T	ENSP00000322457:p.Phe205Ile						p.F205I	NM_005067	NP_005058	O43255	SIAH2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		2	1240	-			205			SBD.		O43270	Missense_Mutation	SNP	ENST00000312960.3	37	c.613T>A	CCDS3152.1	.	.	.	.	.	.	.	.	.	.	A	34	5.314093	0.95655	.	.	ENSG00000181788	ENST00000312960;ENST00000482706	T;T	0.25912	1.77;1.77	5.67	5.67	0.87782	TRAF-type (1);Seven-in-absentia protein, TRAF-like domain (1);TRAF-like (1);	0.000000	0.85682	D	0.000000	T	0.60340	0.2261	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.70252	-0.4923	10	0.72032	D	0.01	.	15.9206	0.79562	1.0:0.0:0.0:0.0	.	205	O43255	SIAH2_HUMAN	I	205;79	ENSP00000322457:F205I;ENSP00000417619:F79I	ENSP00000322457:F205I	F	-	1	0	SIAH2	151942980	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	9.320000	0.96346	2.148000	0.66965	0.482000	0.46254	TTT		0.522	SIAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357697.1	NM_005067		15	61	0	0	0	0	15	61				
PPM1L	151742	broad.mit.edu	37	3	160474321	160474321	+	Silent	SNP	T	T	C			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr3:160474321T>C	ENST00000498165.1	+	1	326	c.225T>C	c.(223-225)ctT>ctC	p.L75L	PPM1L_ENST00000497343.1_Silent_p.L75L|RP11-16N11.2_ENST00000566372.1_RNA	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	75					MAPK cascade (GO:0000165)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			TCGGGGGGCTTGATGTGCTCG	0.597																																					Pancreas(86;250 1994 13715 43211)	uc003fdr.2		NA																	0				breast(1)	1						c.(223-225)CTT>CTC		protein phosphatase 1 (formerly 2C)-like							106.0	86.0	93.0					3																	160474321		2203	4300	6503	SO:0001819	synonymous_variant	151742				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr3:160474321T>C	AK055115	CCDS33886.1	3q26.1	2012-04-17	2010-03-05		ENSG00000163590	ENSG00000163590	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	16381	protein-coding gene	gene with protein product	"""PP2Cepsilon"", ""Protein phosphatase 2C epsilon isoform"""	611931	"""protein phosphatase 1 (formerly 2C)-like"""			12556533	Standard	XM_006713507		Approved	PP2CE	uc003fdr.3	Q5SGD2	OTTHUMG00000159048	ENST00000498165.1:c.225T>C	3.37:g.160474321T>C							p.L75L	NM_139245	NP_640338	Q5SGD2	PPM1L_HUMAN	Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)		1	326	+			75			Cytoplasmic (Potential).		Q2M3J2|Q96NM7	Silent	SNP	ENST00000498165.1	37	c.225T>C	CCDS33886.1																																																																																				0.597	PPM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353019.1	NM_139245		3	32	0	0	0	0	3	32				
SLITRK3	22865	broad.mit.edu	37	3	164907251	164907251	+	Silent	SNP	G	G	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr3:164907251G>T	ENST00000475390.1	-	2	1811	c.1368C>A	c.(1366-1368)ccC>ccA	p.P456P	SLITRK3_ENST00000241274.3_Silent_p.P456P			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	456					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TCTTTAAGTTGGGCAAGTTGA	0.428										HNSCC(40;0.11)																												uc003fej.3		NA																	0				ovary(6)|skin(3)|pancreas(1)	10						c.(1366-1368)CCC>CCA		slit and trk like 3 protein precursor							54.0	56.0	55.0					3																	164907251		2203	4300	6503	SO:0001819	synonymous_variant	22865					integral to membrane		g.chr3:164907251G>T	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.1368C>A	3.37:g.164907251G>T		HNSCC(40;0.11)				SLITRK3_uc003fek.2_Silent_p.P456P	p.P456P	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	1812	-			456			Extracellular (Potential).		Q1RMY6	Silent	SNP	ENST00000475390.1	37	c.1368C>A	CCDS3197.1																																																																																				0.428	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		9	35	1	0	3.1e-07	3.44e-07	9	35				
PLD1	5337	broad.mit.edu	37	3	171394568	171394568	+	Silent	SNP	T	T	G			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr3:171394568T>G	ENST00000351298.4	-	18	2178	c.2052A>C	c.(2050-2052)gcA>gcC	p.A684A	PLD1_ENST00000340989.4_Silent_p.A684A|PLD1_ENST00000342215.6_Missense_Mutation_p.Q575P|PLD1_ENST00000356327.5_Silent_p.A646A	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	684	Catalytic.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TCCCGTGGACTGCAGAGGCAA	0.517																																					NSCLC(149;2174 3517 34058)	uc003fhs.2		NA																	0				ovary(2)|lung(1)	3						c.(2050-2052)GCA>GCC		phospholipase D1 isoform a	Choline(DB00122)						86.0	76.0	79.0					3																	171394568		2203	4300	6503	SO:0001819	synonymous_variant	5337				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr3:171394568T>G	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.2052A>C	3.37:g.171394568T>G						PLD1_uc003fht.2_Silent_p.A646A|PLD1_uc003fhu.3_5'Flank|PLD1_uc003fhv.1_Silent_p.A9A	p.A684A	NM_002662	NP_002653	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		18	2168	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		684			Catalytic.			Silent	SNP	ENST00000351298.4	37	c.2052A>C	CCDS3216.1	.	.	.	.	.	.	.	.	.	.	T	13.78	2.337778	0.41398	.	.	ENSG00000075651	ENST00000342215	T	0.31247	1.5	5.81	-10.0	0.00425	.	.	.	.	.	T	0.26846	0.0657	.	.	.	0.19300	N	0.999976	.	.	.	.	.	.	T	0.52177	-0.8610	6	0.87932	D	0	-0.7234	9.2509	0.37554	0.0759:0.6319:0.2117:0.0806	.	.	.	.	P	575	ENSP00000339936:Q575P	ENSP00000339936:Q575P	Q	-	2	0	PLD1	172877262	0.006000	0.16342	0.000000	0.03702	0.663000	0.39108	-0.195000	0.09546	-1.451000	0.01933	-0.385000	0.06624	CAG		0.517	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		8	33	0	0	0	0	8	33				
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2	H1047R(BT20_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(MCAS_OVARY)|H1047R(HCC1954_BREAST)|H1047R(RKO_LARGE_INTESTINE)|H1047L(EFM19_BREAST)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(CAL29_URINARY_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(T47D_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(SKOV3_OVARY)|H1047R(MDAMB453_BREAST)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		1582	Substitution - Missense(1582)	p.H1047R(1269)|p.H1047L(152)|p.H1047Y(31)|p.H1047Q(3)|p.H1047T(1)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(3139-3141)CAT>CGT		phosphoinositide-3-kinase, catalytic, alpha							99.0	89.0	92.0					3																	178952085		1912	4130	6042	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952085A>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.H1047R	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3297	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1047		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3140A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			26	27	0	0	0	0	26	27				
PARL	55486	broad.mit.edu	37	3	183547407	183547407	+	Silent	SNP	T	T	C			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr3:183547407T>C	ENST00000317096.4	-	10	1179	c.1119A>G	c.(1117-1119)aaA>aaG	p.K373K	PARL_ENST00000435888.1_Silent_p.K289K|PARL_ENST00000311101.5_Silent_p.K323K	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	373					membrane protein proteolysis (GO:0033619)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|proteolysis (GO:0006508)|regulation of protein targeting to mitochondrion (GO:1903214)|regulation of reactive oxygen species metabolic process (GO:2000377)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CACCTCCTTTTTTGGGGCCAT	0.488																																						uc003fmd.2		NA																	0					0						c.(1117-1119)AAA>AAG		presenilin associated, rhomboid-like isoform 1							219.0	222.0	221.0					3																	183547407		2203	4300	6503	SO:0001819	synonymous_variant	55486				proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity	g.chr3:183547407T>C	AF116692	CCDS3248.1, CCDS33897.1	3q27.3	2008-02-05		2006-02-28	ENSG00000175193	ENSG00000175193			18253	protein-coding gene	gene with protein product	"""rhomboid 7 homolog 1 (Drosophila)"""	607858		PSARL			Standard	XM_005247587		Approved	PRO2207, PSARL1, RHBDS1	uc003fmd.3	Q9H300	OTTHUMG00000156890	ENST00000317096.4:c.1119A>G	3.37:g.183547407T>C						PARL_uc003fme.2_Silent_p.K323K	p.K373K	NM_018622	NP_061092	Q9H300	PARL_HUMAN	all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		10	1178	-	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		373			Mitochondrial intermembrane (Potential).		Q96CQ4|Q9BTJ6|Q9P1E3	Silent	SNP	ENST00000317096.4	37	c.1119A>G	CCDS3248.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.13|10.13	1.266597|1.266597	0.23136|0.23136	.|.	.|.	ENSG00000175193|ENSG00000175193	ENST00000417784|ENST00000418450	T|T	0.45276|0.45276	0.9|0.9	5.7|5.7	3.04|3.04	0.35103|0.35103	.|.	0.271224|0.271224	0.37348|0.37348	N|N	0.002123|0.002123	T|T	0.29976|0.29976	0.0750|0.0750	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.03423|0.03423	-1.1038|-1.1038	7|7	0.46703|0.11485	T|T	0.11|0.65	-4.8375|-4.8375	7.8258|7.8258	0.29313|0.29313	0.0:0.4061:0.0:0.5939|0.0:0.4061:0.0:0.5939	.|.	.|.	.|.	.|.	E|R	165|106	ENSP00000398043:K165E|ENSP00000392926:K106R	ENSP00000398043:K165E|ENSP00000392926:K106R	K|K	-|-	1|2	0|0	PARL|PARL	185030101|185030101	0.566000|0.566000	0.26618|0.26618	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	0.392000|0.392000	0.20801|0.20801	1.002000|1.002000	0.39104|0.39104	0.455000|0.455000	0.32223|0.32223	AAA|AAA		0.488	PARL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346465.1	NM_018622		67	182	0	0	0	0	67	182				
CD38	952	broad.mit.edu	37	4	15835919	15835919	+	Silent	SNP	C	C	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr4:15835919C>A	ENST00000226279.3	+	4	716	c.579C>A	c.(577-579)tcC>tcA	p.S193S		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	193					apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|female pregnancy (GO:0007565)|long term synaptic depression (GO:0060292)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone resorption (GO:0045779)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell growth (GO:0030307)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hydroperoxide (GO:0033194)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|phosphorus-oxygen lyase activity (GO:0016849)|transferase activity (GO:0016740)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						AAACGGTTTCCCGCAGGGTAA	0.403																																						uc011bxc.1		NA																	0				ovary(2)	2						c.(577-579)TCC>TCA		CD38 antigen							71.0	70.0	71.0					4																	15835919		2203	4300	6503	SO:0001819	synonymous_variant	952				B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity	g.chr4:15835919C>A	D84276	CCDS3417.1	4p15.32	2010-05-04	2006-03-28		ENSG00000004468	ENSG00000004468	3.2.2.5	"""CD molecules"""	1667	protein-coding gene	gene with protein product	"""ADP-ribosyl cyclase 1"", ""NAD(+) nucleosidase"""	107270	"""CD38 antigen (p45)"""			9074508, 2319135	Standard	NM_001775		Approved		uc003gol.1	P28907	OTTHUMG00000048206	ENST00000226279.3:c.579C>A	4.37:g.15835919C>A						CD38_uc003gol.1_Silent_p.S193S	p.S193S	NM_001775	NP_001766	P28907	CD38_HUMAN			4	686	+			193			Extracellular (Potential).		O00121|O00122|Q96HY4	Silent	SNP	ENST00000226279.3	37	c.579C>A	CCDS3417.1	.	.	.	.	.	.	.	.	.	.	C	3.330	-0.136895	0.06711	.	.	ENSG00000004468	ENST00000540195	.	.	.	5.4	-2.71	0.05986	.	.	.	.	.	T	0.47764	0.1463	.	.	.	0.09310	N	0.999994	.	.	.	.	.	.	T	0.53753	-0.8394	5	0.87932	D	0	-29.4744	11.2265	0.48886	0.0:0.3416:0.0:0.6584	.	.	.	.	H	148	.	ENSP00000442176:P148H	P	+	2	0	CD38	15445017	0.021000	0.18746	0.000000	0.03702	0.013000	0.08279	-0.214000	0.09292	-0.650000	0.05423	-0.157000	0.13467	CCC		0.403	CD38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250322.2	NM_001775		9	30	1	0	0.000274275	0.000292202	9	30				
GABRG1	2565	broad.mit.edu	37	4	46067515	46067515	+	Missense_Mutation	SNP	G	G	T	rs144076673		TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr4:46067515G>T	ENST00000295452.4	-	4	575	c.408C>A	c.(406-408)aaC>aaA	p.N136K		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	136					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CCATATTACTGTTAAGCATAA	0.328																																						uc003gxb.2		NA																	0				ovary(2)	2						c.(406-408)AAC>AAA		gamma-aminobutyric acid A receptor, gamma 1							74.0	74.0	74.0					4																	46067515		2203	4300	6503	SO:0001583	missense	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46067515G>T	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.408C>A	4.37:g.46067515G>T	ENSP00000295452:p.Asn136Lys						p.N136K	NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	4	560	-			136			Extracellular (Probable).		Q5H9T8	Missense_Mutation	SNP	ENST00000295452.4	37	c.408C>A	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.606017	0.66445	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	T	0.78364	-1.17	5.08	-0.2	0.13216	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.84197	0.5419	M	0.72118	2.19	0.45648	D	0.998577	D	0.89917	1.0	D	0.97110	1.0	T	0.82678	-0.0338	10	0.87932	D	0	.	10.1207	0.42618	0.5177:0.0:0.4823:0.0	.	136	Q8N1C3	GBRG1_HUMAN	K	136	ENSP00000295452:N136K	ENSP00000295452:N136K	N	-	3	2	GABRG1	45762272	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	1.382000	0.34374	-0.051000	0.13334	0.508000	0.49915	AAC		0.328	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		7	36	1	0	5.18e-06	5.67e-06	7	36				
CORIN	10699	broad.mit.edu	37	4	47667085	47667085	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr4:47667085C>T	ENST00000273857.4	-	11	1552	c.1553G>A	c.(1552-1554)tGt>tAt	p.C518Y	CORIN_ENST00000508498.1_Missense_Mutation_p.C379Y|CORIN_ENST00000504584.1_Missense_Mutation_p.C481Y|CORIN_ENST00000502252.1_Missense_Mutation_p.C451Y|CORIN_ENST00000505909.1_Missense_Mutation_p.C481Y	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	518	FZ 2. {ECO:0000255|PROSITE- ProRule:PRU00090}.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						ATTCACATCACATTTTGGTAC	0.443																																						uc003gxm.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1552-1554)TGT>TAT		corin							93.0	94.0	93.0					4																	47667085		2203	4300	6503	SO:0001583	missense	10699				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	g.chr4:47667085C>T	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.1553G>A	4.37:g.47667085C>T	ENSP00000273857:p.Cys518Tyr					CORIN_uc011bzf.1_Missense_Mutation_p.C379Y|CORIN_uc011bzg.1_Missense_Mutation_p.C451Y|CORIN_uc011bzh.1_Missense_Mutation_p.C481Y|CORIN_uc011bzi.1_Missense_Mutation_p.C481Y	p.C518Y	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN			11	1646	-			518			Extracellular (Potential).|FZ 2.		B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	ENST00000273857.4	37	c.1553G>A	CCDS3477.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.818637	0.71028	.	.	ENSG00000145244	ENST00000273857;ENST00000508498;ENST00000502252;ENST00000505909;ENST00000504584	D;D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24;-3.24	5.25	5.25	0.73442	Frizzled domain (5);	0.000000	0.85682	D	0.000000	D	0.97679	0.9239	M	0.93978	3.48	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.91635	0.999;0.999;0.988;0.993	D	0.98130	1.0430	10	0.62326	D	0.03	.	19.0552	0.93062	0.0:1.0:0.0:0.0	.	481;481;451;518	B7Z4R1;B4E2W9;B4E1Y7;Q9Y5Q5	.;.;.;CORIN_HUMAN	Y	518;379;451;481;481	ENSP00000273857:C518Y;ENSP00000425597:C379Y;ENSP00000424212:C451Y;ENSP00000425401:C481Y;ENSP00000423216:C481Y	ENSP00000273857:C518Y	C	-	2	0	CORIN	47361842	1.000000	0.71417	1.000000	0.80357	0.589000	0.36550	7.008000	0.76341	2.729000	0.93468	0.650000	0.86243	TGT		0.443	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			17	44	0	0	0	0	17	44				
BDH2	56898	broad.mit.edu	37	4	104016422	104016422	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr4:104016422C>A	ENST00000296424.4	-	3	209	c.89G>T	c.(88-90)gGt>gTt	p.G30V		NM_020139.3	NP_064524.3	Q9BUT1	BDH2_HUMAN	3-hydroxybutyrate dehydrogenase, type 2	30					epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|heme metabolic process (GO:0042168)|iron ion homeostasis (GO:0055072)|siderophore biosynthetic process (GO:0019290)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	3-hydroxybutyrate dehydrogenase activity (GO:0003858)|NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.02e-08)		GACTTTGGCACCTTCTCTTGC	0.403																																						uc003hwz.2		NA																	0					0						c.(88-90)GGT>GTT		3-hydroxybutyrate dehydrogenase, type 2							119.0	112.0	115.0					4																	104016422		2203	4300	6503	SO:0001583	missense	56898				fatty acid beta-oxidation|heme metabolic process|iron ion homeostasis|siderophore biosynthetic process	cytoplasm	3-hydroxybutyrate dehydrogenase activity|NAD binding|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	g.chr4:104016422C>A	AF164790	CCDS3663.1	4q24	2011-09-14			ENSG00000164039	ENSG00000164039	1.1.1.30	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	32389	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 15C, member 1"""		"""dehydrogenase/reductase (SDR family) member 6"""	DHRS6		16380372, 19027726	Standard	XM_005263140		Approved	UCPA-OR, FLJ13261, UNQ6308, PRO20933, SDR15C1	uc003hwz.3	Q9BUT1	OTTHUMG00000074039	ENST00000296424.4:c.89G>T	4.37:g.104016422C>A	ENSP00000296424:p.Gly30Val					BDH2_uc003hxa.2_RNA	p.G30V	NM_020139	NP_064524	Q9BUT1	BDH2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.02e-08)	3	194	-		Hepatocellular(203;0.217)	30			NAD.		A8K295|B4DUF6|Q503A0|Q6IA46|Q6UWD3|Q9H8S8|Q9NRX8	Missense_Mutation	SNP	ENST00000296424.4	37	c.89G>T	CCDS3663.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.822145	0.71028	.	.	ENSG00000164039	ENST00000296424;ENST00000504285;ENST00000509245	T;T;D	0.91792	-0.26;-0.49;-2.91	4.81	3.97	0.46021	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.97592	0.9211	H	0.98407	4.225	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98423	1.0578	10	0.87932	D	0	.	13.8	0.63194	0.1544:0.8456:0.0:0.0	.	30	Q9BUT1	BDH2_HUMAN	V	30	ENSP00000296424:G30V;ENSP00000427442:G30V;ENSP00000422891:G30V	ENSP00000296424:G30V	G	-	2	0	BDH2	104235871	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	6.413000	0.73308	1.139000	0.42245	0.563000	0.77884	GGT		0.403	BDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157159.2	NM_020139		24	36	1	0	1.64e-13	1.92e-13	24	36				
ZGRF1	55345	broad.mit.edu	37	4	113553143	113553143	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr4:113553143C>T	ENST00000505019.1	-	3	170	c.45G>A	c.(43-45)atG>atA	p.M15I	C4orf21_ENST00000445203.2_5'UTR|C4orf21_ENST00000309071.5_Missense_Mutation_p.M15I	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		15						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TTGACTTCTTCATCTTTTGAT	0.318																																						uc003iau.2		NA																	0					0						c.(43-45)ATG>ATA		prematurely terminated mRNA decay factor-like							96.0	86.0	90.0					4																	113553143		2203	4298	6501	SO:0001583	missense	55345					integral to membrane	zinc ion binding	g.chr4:113553143C>T																												ENST00000505019.1:c.45G>A	4.37:g.113553143C>T	ENSP00000424737:p.Met15Ile					C4orf21_uc003iaw.2_Missense_Mutation_p.M15I	p.M15I	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	3	256	-		Ovarian(17;0.156)	Error:Variant_position_missing_in_Q6ZU11_after_alignment					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37	c.45G>A		.	.	.	.	.	.	.	.	.	.	C	12.80	2.047790	0.36085	.	.	ENSG00000138658	ENST00000505019;ENST00000309071;ENST00000503172	D;T	0.83673	-1.75;1.79	5.68	2.04	0.26737	Domain of unknown function DUF2439 (1);	0.659654	0.15108	N	0.280152	T	0.72985	0.3529	L	0.28274	0.84	0.80722	D	1	P;P	0.39352	0.669;0.617	B;B	0.41374	0.355;0.121	T	0.66630	-0.5875	10	0.49607	T	0.09	-0.0252	7.7036	0.28638	0.0:0.6645:0.0:0.3355	.	15;15	Q86YA3;G5EA02	CD021_HUMAN;.	I	15	ENSP00000424737:M15I;ENSP00000309095:M15I	ENSP00000309095:M15I	M	-	3	0	C4orf21	113772592	0.002000	0.14202	0.775000	0.31657	0.992000	0.81027	-0.534000	0.06150	0.346000	0.23899	0.655000	0.94253	ATG		0.318	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			26	10	0	0	0	0	26	10				
PCDH10	57575	broad.mit.edu	37	4	134084195	134084195	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr4:134084195G>A	ENST00000264360.5	+	4	3687	c.2861G>A	c.(2860-2862)tGg>tAg	p.W954*		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	954					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GATCGGTGCTGGATGCCTTCT	0.488																																						uc003iha.2		NA																	0				ovary(2)	2						c.(2860-2862)TGG>TAG		protocadherin 10 isoform 1 precursor							181.0	153.0	162.0					4																	134084195		2203	4300	6503	SO:0001587	stop_gained	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134084195G>A	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2861G>A	4.37:g.134084195G>A	ENSP00000264360:p.Trp954*						p.W954*	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	4	3687	+			954			Cytoplasmic (Potential).		Q4W5F6|Q96SF0	Nonsense_Mutation	SNP	ENST00000264360.5	37	c.2861G>A	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	48	14.665450	0.99805	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	.	.	.	4.94	4.94	0.65067	.	0.000000	0.34291	N	0.004082	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.3153	0.90218	0.0:0.0:1.0:0.0	.	.	.	.	X	954	.	ENSP00000264360:W954X	W	+	2	0	PCDH10	134303645	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.208000	0.95075	2.717000	0.92951	0.650000	0.86243	TGG		0.488	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		34	26	0	0	0	0	34	26				
SLC6A3	6531	broad.mit.edu	37	5	1432743	1432743	+	Silent	SNP	C	C	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr5:1432743C>A	ENST00000270349.9	-	4	616	c.489G>T	c.(487-489)gcG>gcT	p.A163A	SLC6A3_ENST00000453492.2_Silent_p.A163A	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	163					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GATAGTGCAGCGCCCAGGCGA	0.587																																						uc003jck.2		NA																	0				ovary(3)|breast(2)|pancreas(1)	6						c.(487-489)GCG>GCT		solute carrier family 6 (neurotransmitter	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)						152.0	135.0	141.0					5																	1432743		2203	4300	6503	SO:0001819	synonymous_variant	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1432743C>A		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.489G>T	5.37:g.1432743C>A							p.A163A	NM_001044	NP_001035	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		4	610	-			163			Extracellular (Potential).		A2RUN4|Q14996	Silent	SNP	ENST00000270349.9	37	c.489G>T	CCDS3863.1																																																																																				0.587	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		8	22	1	0	5.18e-06	5.67e-06	8	22				
CTNND2	1501	broad.mit.edu	37	5	11565110	11565110	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr5:11565110C>T	ENST00000304623.8	-	3	422	c.233G>A	c.(232-234)aGc>aAc	p.S78N	CTNND2_ENST00000503622.1_5'UTR|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000511377.1_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.S78N	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	78					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CTCCAGCTGGCTGGCTACGAT	0.517																																						uc003jfa.1		NA																	0				large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(232-234)AGC>AAC		catenin (cadherin-associated protein), delta 2							100.0	76.0	84.0					5																	11565110		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11565110C>T	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.233G>A	5.37:g.11565110C>T	ENSP00000307134:p.Ser78Asn					CTNND2_uc010itt.2_5'UTR|CTNND2_uc011cmy.1_5'UTR|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_RNA	p.S78N	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			3	378	-			78			Potential.		B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.233G>A	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.028315	0.35797	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000502551;ENST00000508761	T;T	0.76060	-0.93;-0.99	5.77	4.9	0.64082	.	0.070356	0.56097	D	0.000033	T	0.55000	0.1893	N	0.05124	-0.11	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.51052	-0.8754	10	0.36615	T	0.2	-7.3271	14.3795	0.66902	0.1489:0.8511:0.0:0.0	.	78	Q9UQB3	CTND2_HUMAN	N	78;78;64;64	ENSP00000307134:S78N;ENSP00000352661:S78N	ENSP00000307134:S78N	S	-	2	0	CTNND2	11618110	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.710000	0.37920	1.565000	0.49641	0.655000	0.94253	AGC		0.517	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		16	15	0	0	0	0	16	15				
MYO10	4651	broad.mit.edu	37	5	16877787	16877787	+	Silent	SNP	G	G	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr5:16877787G>T	ENST00000513610.1	-	2	505	c.51C>A	c.(49-51)ggC>ggA	p.G17G	MYO10_ENST00000507288.1_Silent_p.G17G	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	17					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GAAAATGCTGGCCATTTTCTC	0.458																																						uc003jft.3		NA																	0				ovary(2)|pancreas(1)	3						c.(49-51)GGC>GGA		myosin X							85.0	85.0	85.0					5																	16877787		1972	4167	6139	SO:0001819	synonymous_variant	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16877787G>T	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.51C>A	5.37:g.16877787G>T						MYO10_uc003jfu.2_Intron|MYO10_uc003jfv.2_Silent_p.G17G	p.G17G	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN			2	519	-			17			Myosin head-like.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Silent	SNP	ENST00000513610.1	37	c.51C>A	CCDS54834.1																																																																																				0.458	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		12	20	1	0	2.81e-09	3.18e-09	12	20				
PRDM9	56979	broad.mit.edu	37	5	23526849	23526850	+	Missense_Mutation	DNP	TC	TC	AT	rs201513541		TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr5:23526849_23526850TC>AT	ENST00000296682.3	+	11	1834_1835	c.1652_1653TC>AT	c.(1651-1653)cTC>cAT	p.L551H		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	551					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGGGAGAAGCTCTACGTCTGCA	0.485										HNSCC(3;0.000094)																												uc003jgo.2		NA																	0				ovary(3)|large_intestine(2)|pancreas(1)	6						c.(1651-1653)CTC>CAT		PR domain containing 9																																				SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23526849_23526850TC>AT	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	Exception_encountered	5.37:g.23526849_23526850delinsAT	ENSP00000296682:p.Leu551His	HNSCC(3;0.000094)					p.L551H	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			11	1834_1835	+			551					B4DX22|Q27Q50	Missense_Mutation	DNP	ENST00000296682.3	37	c.1652_1653TC>AT	CCDS43307.1																																																																																				0.485	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		32	58	0	0	0	0	32	58				
CDH6	1004	broad.mit.edu	37	5	31294222	31294222	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr5:31294222G>T	ENST00000265071.2	+	3	647	c.382G>T	c.(382-384)Gct>Tct	p.A128S	CDH6_ENST00000514738.1_Missense_Mutation_p.A73S	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	128	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CATCCTTCGAGCTCAAGCTAT	0.453																																						uc003jhe.1		NA																	0				ovary(4)|skin(2)|large_intestine(1)	7						c.(382-384)GCT>TCT		cadherin 6, type 2 preproprotein							124.0	124.0	124.0					5																	31294222		2203	4300	6503	SO:0001583	missense	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31294222G>T	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.382G>T	5.37:g.31294222G>T	ENSP00000265071:p.Ala128Ser					CDH6_uc003jhd.1_Missense_Mutation_p.A128S	p.A128S	NM_004932	NP_004923	P55285	CADH6_HUMAN			3	708	+			128			Extracellular (Potential).|Cadherin 1.		A8K5H5|Q9BWS0	Missense_Mutation	SNP	ENST00000265071.2	37	c.382G>T	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	G	35	5.423770	0.96111	.	.	ENSG00000113361	ENST00000514738;ENST00000265071	T;T	0.61742	0.08;0.08	5.77	5.77	0.91146	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.82467	0.5043	M	0.91612	3.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.84854	0.0815	10	0.66056	D	0.02	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	128;128	P55285;P55285-2	CADH6_HUMAN;.	S	73;128	ENSP00000424843:A73S;ENSP00000265071:A128S	ENSP00000265071:A128S	A	+	1	0	CDH6	31329979	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.420000	0.97426	2.885000	0.99019	0.655000	0.94253	GCT		0.453	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		24	117	1	0	3.8e-18	4.52e-18	24	117				
RXFP3	51289	broad.mit.edu	37	5	33937766	33937766	+	Silent	SNP	G	G	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr5:33937766G>A	ENST00000330120.3	+	1	1276	c.921G>A	c.(919-921)gcG>gcA	p.A307A		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	307					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						GAGGGGCCGCGGTAGCCGGAG	0.652																																						uc003jic.1		NA																	0				upper_aerodigestive_tract(1)	1						c.(919-921)GCG>GCA		relaxin/insulin-like family peptide receptor 3							24.0	20.0	21.0					5																	33937766		2196	4298	6494	SO:0001819	synonymous_variant	51289					integral to plasma membrane	N-formyl peptide receptor activity	g.chr5:33937766G>A	D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"""GPCR / Class A : Relaxin family peptide receptors"""	24883	protein-coding gene	gene with protein product		609445	"""relaxin 3 receptor 1"", ""relaxin family peptide receptor 3"""	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.921G>A	5.37:g.33937766G>A							p.A307A	NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN			1	1278	+			307			Cytoplasmic (Potential).		Q14DA5	Silent	SNP	ENST00000330120.3	37	c.921G>A	CCDS3900.1																																																																																				0.652	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207369.1	NM_016568		6	7	0	0	0	0	6	7				
WDR70	55100	broad.mit.edu	37	5	37605263	37605263	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr5:37605263A>T	ENST00000265107.4	+	10	1171	c.1015A>T	c.(1015-1017)Aca>Tca	p.T339S	WDR70_ENST00000504564.1_Missense_Mutation_p.T339S|WDR70_ENST00000510699.1_3'UTR	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	339							enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CACTACGTGCACATATAGTAG	0.418																																						uc003jkv.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1015-1017)ACA>TCA		WD repeat domain 70							99.0	87.0	91.0					5																	37605263		2203	4300	6503	SO:0001583	missense	55100							g.chr5:37605263A>T	BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"""WD repeat domain containing"""	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.1015A>T	5.37:g.37605263A>T	ENSP00000265107:p.Thr339Ser					WDR70_uc010iva.1_Missense_Mutation_p.T339S	p.T339S	NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		10	1073	+	all_lung(31;0.000285)		339			WD 4.		Q9H053	Missense_Mutation	SNP	ENST00000265107.4	37	c.1015A>T	CCDS34147.1	.	.	.	.	.	.	.	.	.	.	A	16.99	3.272797	0.59649	.	.	ENSG00000082068	ENST00000265107;ENST00000504564	T;D	0.85861	5.14;-2.04	4.97	4.97	0.65823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.139408	0.47093	D	0.000241	T	0.80341	0.4605	L	0.28192	0.835	0.80722	D	1	B;P	0.34934	0.256;0.476	B;B	0.41174	0.349;0.158	T	0.78570	-0.2153	10	0.30854	T	0.27	-4.2493	14.943	0.71009	1.0:0.0:0.0:0.0	.	339;339	D6RIW8;Q9NW82	.;WDR70_HUMAN	S	339	ENSP00000265107:T339S;ENSP00000425841:T339S	ENSP00000265107:T339S	T	+	1	0	WDR70	37641020	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	7.112000	0.77086	2.004000	0.58718	0.482000	0.46254	ACA		0.418	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1	NM_018034		21	54	0	0	0	0	21	54				
COL4A3BP	10087	broad.mit.edu	37	5	74722212	74722212	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr5:74722212G>C	ENST00000405807.4	-	4	861	c.440C>G	c.(439-441)tCc>tGc	p.S147C	COL4A3BP_ENST00000261415.7_Missense_Mutation_p.S147C|COL4A3BP_ENST00000380494.5_Missense_Mutation_p.S275C	NM_005713.2	NP_005704.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	147					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|ceramide metabolic process (GO:0006672)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi ceramide transport (GO:0035621)|heart morphogenesis (GO:0003007)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lipid homeostasis (GO:0055088)|mitochondrion morphogenesis (GO:0070584)|muscle contraction (GO:0006936)|protein phosphorylation (GO:0006468)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ceramide binding (GO:0097001)|ceramide transporter activity (GO:0035620)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein kinase activity (GO:0004672)			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		TGAAGAGGTGGATGTTGCAGA	0.398																																						uc011csu.1		NA																	0				skin(1)	1						c.(439-441)TCC>TGC		alpha 3 type IV collagen binding protein isoform							104.0	96.0	99.0					5																	74722212		2203	4300	6503	SO:0001583	missense	10087				ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity	g.chr5:74722212G>C	AF136450	CCDS4028.1, CCDS4029.1, CCDS47235.1	5q13.3	2013-01-10	2007-06-08	2007-06-08	ENSG00000113163	ENSG00000113163		"""StAR-related lipid transfer (START) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2205	protein-coding gene	gene with protein product	"""ceramide transporter"", ""StAR-related lipid transfer (START) domain containing 11"""	604677				10212244	Standard	NM_001130105		Approved	GPBP, STARD11, CERT	uc003kdt.3	Q9Y5P4	OTTHUMG00000102068	ENST00000405807.4:c.440C>G	5.37:g.74722212G>C	ENSP00000383996:p.Ser147Cys					COL4A3BP_uc003kds.2_Missense_Mutation_p.S147C|COL4A3BP_uc003kdt.2_Missense_Mutation_p.S275C|COL4A3BP_uc003kdu.2_Missense_Mutation_p.S147C	p.S147C	NM_005713	NP_005704	Q9Y5P4	C43BP_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1e-53)	4	862	-		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)	147					A8K7S2|B3KUB7|Q53YV1|Q53YV2|Q96Q85|Q96Q88|Q9H2S7|Q9H2S8	Missense_Mutation	SNP	ENST00000405807.4	37	c.440C>G	CCDS4028.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.743454	0.89663	.	.	ENSG00000113163	ENST00000405807;ENST00000380494;ENST00000261415	T;T;T	0.37915	1.22;1.17;1.25	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.64994	0.2649	M	0.79693	2.465	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.68515	-0.5388	10	0.66056	D	0.02	-5.171	19.3204	0.94236	0.0:0.0:1.0:0.0	.	147;275;147	Q9Y5P4;Q9Y5P4-3;Q9Y5P4-2	C43BP_HUMAN;.;.	C	147;275;147	ENSP00000383996:S147C;ENSP00000369862:S275C;ENSP00000261415:S147C	ENSP00000261415:S147C	S	-	2	0	COL4A3BP	74757968	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.837000	0.99465	2.558000	0.86282	0.591000	0.81541	TCC		0.398	COL4A3BP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219875.2	NM_005713		9	31	0	0	0	0	9	31				
IQGAP2	10788	broad.mit.edu	37	5	75886317	75886317	+	Missense_Mutation	SNP	C	C	T	rs572815114		TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr5:75886317C>T	ENST00000274364.6	+	8	1022	c.725C>T	c.(724-726)gCg>gTg	p.A242V	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	242					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AACCCAAATGCGGTTTTAACT	0.378													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20129	0.0		0.0	False		,,,				2504	0.0					uc003kek.2		NA																	0				ovary(6)|central_nervous_system(1)	7						c.(724-726)GCG>GTG		IQ motif containing GTPase activating protein 2							92.0	91.0	91.0					5																	75886317		2203	4300	6503	SO:0001583	missense	10788				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	g.chr5:75886317C>T	U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.725C>T	5.37:g.75886317C>T	ENSP00000274364:p.Ala242Val						p.A242V	NM_006633	NP_006624	Q13576	IQGA2_HUMAN		all cancers(79;1.38e-36)	8	947	+		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)	242					A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	ENST00000274364.6	37	c.725C>T	CCDS34188.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.031475	0.93575	.	.	ENSG00000145703	ENST00000274364;ENST00000514350;ENST00000505766	T;T;T	0.53206	3.68;0.63;3.68	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.66046	0.2750	M	0.88377	2.95	0.80722	D	1	D	0.62365	0.991	P	0.49752	0.621	T	0.70710	-0.4797	10	0.41790	T	0.15	-23.1046	19.8594	0.96778	0.0:1.0:0.0:0.0	.	242	Q13576	IQGA2_HUMAN	V	242;215;192	ENSP00000274364:A242V;ENSP00000423672:A215V;ENSP00000421097:A192V	ENSP00000274364:A242V	A	+	2	0	IQGAP2	75922073	1.000000	0.71417	0.924000	0.36721	0.852000	0.48524	7.601000	0.82783	2.691000	0.91804	0.650000	0.86243	GCG		0.378	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		28	25	0	0	0	0	28	25				
PCDHA7	56141	broad.mit.edu	37	5	140215095	140215095	+	Missense_Mutation	SNP	A	A	T	rs145294768		TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr5:140215095A>T	ENST00000525929.1	+	1	1127	c.1127A>T	c.(1126-1128)gAc>gTc	p.D376V	PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.D376V	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	376	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGTGTTTGACCGAGATTTT	0.502																																					NSCLC(160;258 2013 5070 22440 28951)	uc003lhq.2		NA																	0				ovary(2)|skin(2)	4						c.(1126-1128)GAC>GTC		protocadherin alpha 7 isoform 1 precursor							162.0	155.0	158.0					5																	140215095		2203	4300	6503	SO:0001583	missense	56141				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140215095A>T	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1127A>T	5.37:g.140215095A>T	ENSP00000436426:p.Asp376Val					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.D376V	p.D376V	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1127	+			376			Cadherin 4.|Extracellular (Potential).		O75282	Missense_Mutation	SNP	ENST00000525929.1	37	c.1127A>T	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	A	13.13	2.146066	0.37923	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.73789	-0.78;-0.78	4.04	4.04	0.47022	Cadherin (4);Cadherin-like (1);	0.000000	0.33180	U	0.005193	D	0.91317	0.7262	H	0.98721	4.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94169	0.7421	10	0.87932	D	0	.	13.2918	0.60274	1.0:0.0:0.0:0.0	.	376;376	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	V	376	ENSP00000436426:D376V;ENSP00000367365:D376V	ENSP00000367365:D376V	D	+	2	0	PCDHA7	140195279	1.000000	0.71417	0.123000	0.21794	0.130000	0.20726	9.257000	0.95545	1.592000	0.50018	0.254000	0.18369	GAC		0.502	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		24	61	0	0	0	0	24	61				
PCDHA7	56141	broad.mit.edu	37	5	140215144	140215144	+	Silent	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr5:140215144C>T	ENST00000525929.1	+	1	1176	c.1176C>T	c.(1174-1176)cgC>cgT	p.R392R	PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.R392R	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	392	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACGCCCCGCGTTCCCTTCA	0.537																																					NSCLC(160;258 2013 5070 22440 28951)	uc003lhq.2		NA																	0				ovary(2)|skin(2)	4						c.(1174-1176)CGC>CGT		protocadherin alpha 7 isoform 1 precursor							131.0	130.0	130.0					5																	140215144		2203	4299	6502	SO:0001819	synonymous_variant	56141				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140215144C>T	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1176C>T	5.37:g.140215144C>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Silent_p.R392R	p.R392R	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1176	+			392			Cadherin 4.|Extracellular (Potential).		O75282	Silent	SNP	ENST00000525929.1	37	c.1176C>T	CCDS54918.1																																																																																				0.537	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		27	88	0	0	0	0	27	88				
PCDHB6	56130	broad.mit.edu	37	5	140530019	140530019	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr5:140530019C>T	ENST00000231136.1	+	1	181	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W	PCDHB6_ENST00000543635.1_Intron	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	61	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGGCTTCGCGGGGCGCTCG	0.507																																						uc003lir.2		NA																	0				skin(1)	1						c.(181-183)CGG>TGG		protocadherin beta 6 precursor							82.0	92.0	88.0					5																	140530019		2203	4300	6503	SO:0001583	missense	56130				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140530019C>T	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.181C>T	5.37:g.140530019C>T	ENSP00000231136:p.Arg61Trp					PCDHB6_uc011dah.1_Intron	p.R61W	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	181	+			61			Extracellular (Potential).|Cadherin 1.		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.181C>T	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.682054	0.29872	.	.	ENSG00000113211	ENST00000231136	T	0.42513	0.97	4.97	4.97	0.65823	Cadherin, N-terminal (1);Cadherin (2);	.	.	.	.	T	0.78629	0.4313	H	0.99336	4.52	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86921	0.2067	9	0.87932	D	0	.	13.548	0.61715	0.1558:0.8442:0.0:0.0	.	61	Q9Y5E3	PCDB6_HUMAN	W	61	ENSP00000231136:R61W	ENSP00000231136:R61W	R	+	1	2	PCDHB6	140510203	0.037000	0.19845	0.089000	0.20774	0.015000	0.08874	0.393000	0.20817	2.454000	0.82982	0.561000	0.74099	CGG		0.507	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		24	51	0	0	0	0	24	51				
DIAPH1	1729	broad.mit.edu	37	5	140908052	140908052	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr5:140908052T>A	ENST00000398557.4	-	23	3256	c.3116A>T	c.(3115-3117)gAc>gTc	p.D1039V	DIAPH1_ENST00000398566.3_Missense_Mutation_p.D1031V|DIAPH1_ENST00000494967.1_5'Flank|DIAPH1_ENST00000389057.5_Missense_Mutation_p.D1030V|DIAPH1_ENST00000520569.1_Missense_Mutation_p.D982V|DIAPH1_ENST00000389054.3_Missense_Mutation_p.D1036V|DIAPH1_ENST00000253811.6_Missense_Mutation_p.D1040V|DIAPH1_ENST00000518047.1_Missense_Mutation_p.D1027V|DIAPH1_ENST00000398562.2_Missense_Mutation_p.D1015V	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	1039	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCAAGCTCGTCTGGAAACTT	0.498																																						uc003llb.3		NA																	0				skin(1)	1						c.(3115-3117)GAC>GTC		diaphanous 1 isoform 1							86.0	82.0	83.0					5																	140908052		1952	4151	6103	SO:0001583	missense	1729				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding	g.chr5:140908052T>A	BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"""diaphanous (Drosophila, homolog) 1"", ""diaphanous homolog 1 (Drosophila)"""	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.3116A>T	5.37:g.140908052T>A	ENSP00000381565:p.Asp1039Val					DIAPH1_uc011dbd.1_5'Flank|DIAPH1_uc003llc.3_Missense_Mutation_p.D1030V|DIAPH1_uc010jgc.1_Missense_Mutation_p.D475V	p.D1039V	NM_005219	NP_005210	O60610	DIAP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		24	3257	-			1039			Potential.|FH2.		A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Missense_Mutation	SNP	ENST00000398557.4	37	c.3116A>T	CCDS43374.1	.	.	.	.	.	.	.	.	.	.	T	19.45	3.829934	0.71258	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047	T;T;T;T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17	5.66	5.66	0.87406	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.059479	0.64402	D	0.000006	T	0.80121	0.4565	M	0.83118	2.625	0.80722	D	1	D;D;D	0.71674	0.998;0.992;0.992	D;D;D	0.71184	0.972;0.95;0.95	D	0.83390	0.0017	10	0.87932	D	0	.	14.8844	0.70557	0.0:0.0:0.0:1.0	.	982;1030;1039	E7ERW8;E9PEZ2;O60610	.;.;DIAP1_HUMAN	V	1036;982;1015;1030;1031;1039;1040;1027	ENSP00000373706:D1036V;ENSP00000429282:D982V;ENSP00000381570:D1015V;ENSP00000373709:D1030V;ENSP00000381572:D1031V;ENSP00000381565:D1039V;ENSP00000253811:D1040V;ENSP00000428268:D1027V	ENSP00000253811:D1040V	D	-	2	0	DIAPH1	140888236	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.301000	0.72782	2.158000	0.67659	0.383000	0.25322	GAC		0.498	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_005219		22	17	0	0	0	0	22	17				
PCDH12	51294	broad.mit.edu	37	5	141336084	141336084	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr5:141336084G>A	ENST00000231484.3	-	1	2543	c.1333C>T	c.(1333-1335)Cag>Tag	p.Q445*	PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	445	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCTGAGCTGTTTCTTGGCT	0.488																																						uc003llx.2		NA																	0				ovary(3)	3						c.(1333-1335)CAG>TAG		protocadherin 12 precursor							231.0	203.0	213.0					5																	141336084		2203	4300	6503	SO:0001587	stop_gained	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141336084G>A	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.1333C>T	5.37:g.141336084G>A	ENSP00000231484:p.Gln445*						p.Q445*	NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2544	-		all_hematologic(541;0.0999)	445			Cadherin 4.|Extracellular (Potential).		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Nonsense_Mutation	SNP	ENST00000231484.3	37	c.1333C>T	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	G	48	13.999820	0.99774	.	.	ENSG00000113555	ENST00000231484	.	.	.	4.92	3.09	0.35607	.	0.419553	0.26711	N	0.022883	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	9.3605	0.38192	0.0:0.1634:0.6787:0.1579	.	.	.	.	X	445	.	ENSP00000231484:Q445X	Q	-	1	0	PCDH12	141316268	1.000000	0.71417	0.563000	0.28383	0.979000	0.70002	3.259000	0.51515	0.627000	0.30340	0.561000	0.74099	CAG		0.488	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		32	70	0	0	0	0	32	70				
LARS	51520	broad.mit.edu	37	5	145506097	145506097	+	Silent	SNP	T	T	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr5:145506097T>A	ENST00000394434.2	-	28	3058	c.2892A>T	c.(2890-2892)ggA>ggT	p.G964G	LARS_ENST00000274562.9_Silent_p.G937G|LARS_ENST00000545646.1_Silent_p.G918G|LARS_ENST00000510191.1_Silent_p.G910G	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	964					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CAGGCAGTTTTCCGTTATTGG	0.408																																						uc003lnx.1		NA																	0					0						c.(2890-2892)GGA>GGT		leucyl-tRNA synthetase	L-Leucine(DB00149)						141.0	116.0	125.0					5																	145506097		2203	4299	6502	SO:0001819	synonymous_variant	51520				leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding	g.chr5:145506097T>A	AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	6512	protein-coding gene	gene with protein product	"""leucine tRNA ligase 1, cytoplasmic"""	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.2892A>T	5.37:g.145506097T>A						LARS_uc003lnw.1_Silent_p.G122G|LARS_uc011dbq.1_Silent_p.G918G|LARS_uc011dbr.1_Silent_p.G910G|LARS_uc011dbs.1_Silent_p.G937G	p.G964G	NM_020117	NP_064502	Q9P2J5	SYLC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		28	3130	-			964					A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Silent	SNP	ENST00000394434.2	37	c.2892A>T	CCDS34265.1																																																																																				0.408	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	NM_020117		31	9	0	0	0	0	31	9				
CCNJL	79616	broad.mit.edu	37	5	159686758	159686758	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr5:159686758C>A	ENST00000393977.3	-	5	730	c.445G>T	c.(445-447)Gac>Tac	p.D149Y	CCNJL_ENST00000541762.1_Missense_Mutation_p.D100Y|CCNJL_ENST00000519673.1_Missense_Mutation_p.D101Y|CCNJL_ENST00000257536.7_Missense_Mutation_p.D101Y|CCNJL_ENST00000377503.2_5'UTR	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	149	Cyclin N-terminal.					nucleus (GO:0005634)				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGGACGTGGTCTTCCCGATCC	0.557																																						uc003lyb.1		NA																	0					0						c.(445-447)GAC>TAC		cyclin J-like							135.0	129.0	131.0					5																	159686758		2039	4189	6228	SO:0001583	missense	79616					nucleus		g.chr5:159686758C>A	BC013353	CCDS4350.2	5q33.3	2008-10-31			ENSG00000135083	ENSG00000135083			25876	protein-coding gene	gene with protein product						12477932	Standard	XM_005265982		Approved	FLJ14166	uc003lyb.1	Q8IV13	OTTHUMG00000130325	ENST00000393977.3:c.445G>T	5.37:g.159686758C>A	ENSP00000377547:p.Asp149Tyr					CCNJL_uc011dee.1_Missense_Mutation_p.D101Y|CCNJL_uc003lyc.1_RNA|CCNJL_uc011def.1_Missense_Mutation_p.D101Y	p.D149Y	NM_024565	NP_078841	Q8IV13	CCNJL_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		5	697	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	149			Cyclin N-terminal.		Q6ZN43|Q9H7W8	Missense_Mutation	SNP	ENST00000393977.3	37	c.445G>T	CCDS4350.2	.	.	.	.	.	.	.	.	.	.	C	13.16	2.154987	0.38021	.	.	ENSG00000135083	ENST00000393977;ENST00000257536;ENST00000519673;ENST00000541762;ENST00000520748	T;T;T;T;T	0.20463	2.07;2.29;2.29;2.29;2.29	5.25	5.25	0.73442	Cyclin-like (2);	0.120679	0.64402	D	0.000011	T	0.36331	0.0963	L	0.39898	1.24	0.80722	D	1	D;D;D	0.89917	0.998;0.997;1.0	D;D;D	0.75484	0.986;0.976;0.976	T	0.05517	-1.0880	10	0.62326	D	0.03	-26.8368	12.8514	0.57860	0.0:0.9204:0.0:0.0796	.	101;101;149	E7EN43;B4DZA8;Q8IV13	.;.;CCNJL_HUMAN	Y	149;101;101;100;136	ENSP00000377547:D149Y;ENSP00000257536:D101Y;ENSP00000427960:D101Y;ENSP00000446367:D100Y;ENSP00000428836:D136Y	ENSP00000257536:D101Y	D	-	1	0	CCNJL	159619336	1.000000	0.71417	1.000000	0.80357	0.153000	0.21895	5.968000	0.70413	2.447000	0.82792	0.655000	0.94253	GAC		0.557	CCNJL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252674.1	NM_024565		29	24	1	0	1.89e-17	2.23e-17	29	24				
RNF130	55819	broad.mit.edu	37	5	179440200	179440200	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr5:179440200A>T	ENST00000261947.4	-	3	952	c.554T>A	c.(553-555)aTg>aAg	p.M185K	MIR340_ENST00000362125.1_RNA|RNF130_ENST00000521389.1_Missense_Mutation_p.M185K|RNF130_ENST00000522208.2_Missense_Mutation_p.M185K	NM_001280801.1	NP_001267730.1			ring finger protein 130											breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTCGGTGGCATTCGAGTTCC	0.373																																					GBM(24;432 554 38471 39699 51728)	uc003mll.1		NA																	0				lung(2)|ovary(1)	3						c.(553-555)ATG>AAG		ring finger protein 130 precursor							115.0	102.0	107.0					5																	179440200		2203	4300	6503	SO:0001583	missense	55819				apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding	g.chr5:179440200A>T	AF155650	CCDS4451.1, CCDS64340.1	5q35.3	2013-01-09			ENSG00000113269	ENSG00000113269		"""RING-type (C3HC4) zinc fingers"""	18280	protein-coding gene	gene with protein product						10806348	Standard	NM_018434		Approved	GP, G1RZFP, GOLIATH	uc003mll.1	Q86XS8	OTTHUMG00000130909	ENST00000261947.4:c.554T>A	5.37:g.179440200A>T	ENSP00000261947:p.Met185Lys					RNF130_uc003mlm.1_Missense_Mutation_p.M185K	p.M185K	NM_018434	NP_060904	Q86XS8	GOLI_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	961	-	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	185			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000261947.4	37	c.554T>A		.	.	.	.	.	.	.	.	.	.	A	3.328	-0.137310	0.06711	.	.	ENSG00000113269	ENST00000522208;ENST00000521389;ENST00000261947	T;T;T	0.04049	3.72;3.72;3.72	5.79	4.64	0.57946	.	0.423555	0.29558	N	0.011813	T	0.02649	0.0080	N	0.08118	0	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.06405	0.002;0.0	T	0.40459	-0.9562	10	0.52906	T	0.07	.	4.9885	0.14202	0.7213:0.0:0.1432:0.1355	.	202;185	Q59EL1;Q86XS8	.;GOLI_HUMAN	K	185	ENSP00000429509:M185K;ENSP00000430237:M185K;ENSP00000261947:M185K	ENSP00000261947:M185K	M	-	2	0	RNF130	179372806	1.000000	0.71417	0.986000	0.45419	0.050000	0.14768	3.557000	0.53741	1.018000	0.39521	-0.250000	0.11733	ATG		0.373	RNF130-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374205.1	NM_018434		26	74	0	0	0	0	26	74				
TRIM41	90933	broad.mit.edu	37	5	180651243	180651243	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr5:180651243T>G	ENST00000315073.5	+	1	954	c.244T>G	c.(244-246)Tgg>Ggg	p.W82G	CTC-338M12.7_ENST00000499096.2_RNA|TRIM41_ENST00000351937.5_Missense_Mutation_p.W82G|MIR4638_ENST00000581158.1_RNA	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	82	Glu-rich.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.W82G(4)		NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGCGCGGGGTGGGACACCCC	0.627																																						uc003mne.1		NA																	4	Substitution - Missense(4)		prostate(4)		0						c.(244-246)TGG>GGG		tripartite motif-containing 41 isoform 1							78.0	82.0	81.0					5																	180651243		2203	4300	6503	SO:0001583	missense	90933					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	g.chr5:180651243T>G	AF258579	CCDS4465.1, CCDS4466.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146063	ENSG00000146063		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19013	protein-coding gene	gene with protein product	"""RING-finger protein that interacts with C kinase"""	610530	"""tripartite motif-containing 41"""			16022281	Standard	NM_033549		Approved	MGC1127, RINCK	uc003mne.2	Q8WV44	OTTHUMG00000130965	ENST00000315073.5:c.244T>G	5.37:g.180651243T>G	ENSP00000320869:p.Trp82Gly					uc003mnb.1_3'UTR|TRIM41_uc003mnc.1_Missense_Mutation_p.W82G|TRIM41_uc003mnd.1_Missense_Mutation_p.W82G|TRIM41_uc003mnf.1_RNA	p.W82G	NM_033549	NP_291027	Q8WV44	TRI41_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	938	+	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	82			Glu-rich.		B3KNJ6|D3DWR9|Q5BKT0|Q7L484|Q96Q10|Q9BSL8	Missense_Mutation	SNP	ENST00000315073.5	37	c.244T>G	CCDS4466.1	.	.	.	.	.	.	.	.	.	.	T	15.79	2.938411	0.52972	.	.	ENSG00000146063	ENST00000351937;ENST00000315073	T;T	0.53206	1.18;0.63	5.0	3.85	0.44370	Zinc finger, RING-type (1);	0.172641	0.28036	N	0.016860	T	0.40645	0.1125	L	0.29908	0.895	0.33975	D	0.64722	D;D;D	0.56968	0.963;0.978;0.978	B;P;P	0.50570	0.441;0.644;0.644	T	0.55418	-0.8144	10	0.56958	D	0.05	.	6.6435	0.22923	0.0:0.1051:0.0:0.8949	.	82;82;82	Q8WV44;Q8WV44-2;Q8WV44-4	TRI41_HUMAN;.;.	G	82	ENSP00000336749:W82G;ENSP00000320869:W82G	ENSP00000320869:W82G	W	+	1	0	TRIM41	180583849	0.883000	0.30277	0.998000	0.56505	0.648000	0.38561	0.519000	0.22862	1.877000	0.54381	0.260000	0.18958	TGG		0.627	TRIM41-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253574.3	NM_201627		13	57	0	0	0	0	13	57				
EXOC2	55770	broad.mit.edu	37	6	556005	556005	+	Silent	SNP	T	T	C			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr6:556005T>C	ENST00000230449.4	-	19	2076	c.1941A>G	c.(1939-1941)caA>caG	p.Q647Q	EXOC2_ENST00000448181.3_Silent_p.Q242Q	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	647					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TTTTAGGTTGTTGGAAGACCT	0.338																																						uc003mtd.2		NA																	0				breast(4)|ovary(2)|pancreas(1)	7						c.(1939-1941)CAA>CAG		Sec5 protein							133.0	126.0	129.0					6																	556005		2203	4300	6503	SO:0001819	synonymous_variant	55770				exocytosis|protein transport			g.chr6:556005T>C	AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"""SEC5-like 1 (S. cerevisiae)"""	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.1941A>G	6.37:g.556005T>C						EXOC2_uc003mte.2_Silent_p.Q647Q|EXOC2_uc011dho.1_Silent_p.Q242Q	p.Q647Q	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)	19	2075	-	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)	647					B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Silent	SNP	ENST00000230449.4	37	c.1941A>G	CCDS34327.1																																																																																				0.338	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1	NM_018303		34	40	0	0	0	0	34	40				
SYCP2L	221711	broad.mit.edu	37	6	10907904	10907904	+	Missense_Mutation	SNP	G	G	C	rs143568506	byFrequency	TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr6:10907904G>C	ENST00000283141.6	+	10	1102	c.806G>C	c.(805-807)cGa>cCa	p.R269P	RP11-637O19.3_ENST00000480294.1_3'UTR|SYCP2L_ENST00000543878.1_Missense_Mutation_p.R110P	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	269						nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			ATTAAGGATCGAGAATTTGAG	0.403																																						uc003mzo.2		NA																	0				ovary(1)|skin(1)	2						c.(805-807)CGA>CCA		synaptonemal complex protein 2-like							122.0	119.0	120.0					6																	10907904		1856	4107	5963	SO:0001583	missense	221711					nucleus		g.chr6:10907904G>C	AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 177"""	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.806G>C	6.37:g.10907904G>C	ENSP00000283141:p.Arg269Pro					SYCP2L_uc011din.1_Missense_Mutation_p.R110P|SYCP2L_uc010jow.2_5'UTR	p.R269P	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Epithelial(50;0.239)		10	1102	+	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	269					A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Missense_Mutation	SNP	ENST00000283141.6	37	c.806G>C	CCDS43423.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.754498	0.31046	.	.	ENSG00000153157	ENST00000543878;ENST00000283141	T;T	0.45276	0.9;2.19	5.58	0.616	0.17613	.	0.404992	0.23107	N	0.051849	T	0.28830	0.0715	M	0.62723	1.935	0.53005	D	0.999965	B;D	0.54964	0.039;0.969	B;P	0.49683	0.063;0.619	T	0.08576	-1.0715	10	0.56958	D	0.05	.	6.1135	0.20114	0.4557:0.1283:0.4159:0.0	.	110;269	B4DFB8;Q5T4T6	.;SYC2L_HUMAN	P	110;269	ENSP00000440676:R110P;ENSP00000283141:R269P	ENSP00000283141:R269P	R	+	2	0	SYCP2L	11015890	0.004000	0.15560	0.522000	0.27862	0.334000	0.28698	-0.150000	0.10189	0.035000	0.15519	-0.794000	0.03295	CGA		0.403	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039845.3	NM_194299		35	53	0	0	0	0	35	53				
BMP5	653	broad.mit.edu	37	6	55620386	55620386	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr6:55620386T>A	ENST00000370830.3	-	7	2008	c.1310A>T	c.(1309-1311)aAt>aTt	p.N437I	BMP5_ENST00000446683.2_Missense_Mutation_p.N400I	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	437					cartilage development (GO:0051216)|growth (GO:0040007)|male genitalia development (GO:0030539)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of steroid biosynthetic process (GO:0010894)|ossification (GO:0001503)|pattern specification process (GO:0007389)|positive regulation of dendrite development (GO:1900006)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)|type B pancreatic cell development (GO:0003323)	extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CAAAATGACATTGGAGCTGTC	0.353																																						uc003pcq.2		NA																	0				ovary(2)	2						c.(1309-1311)AAT>ATT		bone morphogenetic protein 5 preproprotein							99.0	100.0	99.0					6																	55620386		2203	4299	6502	SO:0001583	missense	653				cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr6:55620386T>A		CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1072	protein-coding gene	gene with protein product		112265				1427904, 11580864	Standard	NM_021073		Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.1310A>T	6.37:g.55620386T>A	ENSP00000359866:p.Asn437Ile					BMP5_uc011dxf.1_Missense_Mutation_p.N400I	p.N437I	NM_021073	NP_066551	P22003	BMP5_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		7	2022	-	Lung NSC(77;0.0462)		437					B4E0Y4|Q9H547|Q9NTM5	Missense_Mutation	SNP	ENST00000370830.3	37	c.1310A>T	CCDS4958.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.048659	0.75846	.	.	ENSG00000112175	ENST00000370830;ENST00000446683	D;D	0.89746	-2.56;-2.56	5.73	5.73	0.89815	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.95576	0.8562	M	0.93328	3.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96636	0.9470	10	0.87932	D	0	.	16.3197	0.82945	0.0:0.0:0.0:1.0	.	400;437	B4E0Y4;P22003	.;BMP5_HUMAN	I	437;400	ENSP00000359866:N437I;ENSP00000391818:N400I	ENSP00000359866:N437I	N	-	2	0	BMP5	55728345	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.302000	0.77476	0.533000	0.62120	AAT		0.353	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041000.1			28	35	0	0	0	0	28	35				
LAMA4	3910	broad.mit.edu	37	6	112513043	112513043	+	Silent	SNP	G	G	A	rs140249081		TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr6:112513043G>A	ENST00000230538.7	-	6	910	c.513C>T	c.(511-513)ccC>ccT	p.P171P	LAMA4_ENST00000524032.1_5'UTR|LAMA4_ENST00000389463.4_Silent_p.P171P|LAMA4_ENST00000522006.1_Silent_p.P171P|LAMA4_ENST00000424408.2_Silent_p.P171P	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	171	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)	p.P171P(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CATAGTAACCGGGAGCACATC	0.378													G|||	1	0.000199681	0.0	0.0	5008	,	,		21797	0.001		0.0	False		,,,				2504	0.0					uc003pvu.2		NA																	1	Substitution - coding silent(1)		endometrium(1)	ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9						c.(511-513)CCC>CCT		laminin, alpha 4 isoform 1 precursor		G	,,	0,4406		0,0,2203	53.0	51.0	52.0		513,513,513	2.1	1.0	6	dbSNP_134	52	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	LAMA4	NM_001105206.1,NM_001105207.1,NM_002290.3	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	171/1824,171/1817,171/1817	112513043	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112513043G>A		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.513C>T	6.37:g.112513043G>A						LAMA4_uc003pvv.2_Silent_p.P171P|LAMA4_uc003pvt.2_Silent_p.P171P	p.P171P	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	6	822	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	171			Laminin EGF-like 2.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Silent	SNP	ENST00000230538.7	37	c.513C>T	CCDS43491.1																																																																																				0.378	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		6	22	0	0	0	0	6	22				
SOGA3	387104	broad.mit.edu	37	6	127796905	127796905	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr6:127796905C>T	ENST00000525778.1	-	6	3011	c.2266G>A	c.(2266-2268)Gac>Aac	p.D756N	SOGA3_ENST00000368268.2_Missense_Mutation_p.D756N|SOGA3_ENST00000556132.1_Missense_Mutation_p.D756N|SOGA3_ENST00000465909.2_Missense_Mutation_p.D756N|SOGA3_ENST00000474293.2_5'Flank|SOGA3_ENST00000481848.2_Missense_Mutation_p.D756N			Q5TF21	SOGA3_HUMAN	SOGA family member 3	756					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											TTGCCCGCGTCGCTCTCGGCG	0.692																																						uc003qbd.2		NA																	0				breast(3)|ovary(2)|skin(1)	6						c.(2266-2268)GAC>AAC		hypothetical protein LOC387104 precursor							39.0	47.0	44.0					6																	127796905		2130	4230	6360	SO:0001583	missense	387104					integral to membrane		g.chr6:127796905C>T	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.2266G>A	6.37:g.127796905C>T	ENSP00000434570:p.Asp756Asn					C6orf174_uc003qbc.2_5'Flank	p.D756N	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN		GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)	6	3131	-			756						Missense_Mutation	SNP	ENST00000525778.1	37	c.2266G>A	CCDS43505.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.636332	0.87760	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.34859	1.34;1.34;1.34;1.34	5.27	5.27	0.74061	.	0.045141	0.85682	D	0.000000	T	0.54775	0.1879	M	0.73217	2.22	0.58432	D	0.999999	D	0.89917	1.0	D	0.79108	0.992	T	0.59075	-0.7522	10	0.72032	D	0.01	-26.2829	18.91	0.92479	0.0:1.0:0.0:0.0	.	756	Q5TF21	CF174_HUMAN	N	756	ENSP00000451768:D756N;ENSP00000357251:D756N;ENSP00000434570:D756N;ENSP00000435559:D756N	ENSP00000435559:D756N	D	-	1	0	C6orf174	127838598	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	5.897000	0.69831	2.476000	0.83614	0.462000	0.41574	GAC		0.692	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		24	53	0	0	0	0	24	53				
MAP3K5	4217	broad.mit.edu	37	6	136977517	136977517	+	Silent	SNP	T	T	C			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr6:136977517T>C	ENST00000359015.4	-	10	1968	c.1608A>G	c.(1606-1608)caA>caG	p.Q536Q	MAP3K5_ENST00000355845.4_5'UTR	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	536					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		CCACAAGTTCTTGCTTGGCCA	0.393																																						uc003qhc.2		NA																	0				ovary(2)|skin(2)|lung(1)	5						c.(1606-1608)CAA>CAG		mitogen-activated protein kinase kinase kinase							164.0	155.0	158.0					6																	136977517		2203	4300	6503	SO:0001819	synonymous_variant	4217				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding	g.chr6:136977517T>C	U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.1608A>G	6.37:g.136977517T>C						MAP3K5_uc011edj.1_5'UTR|MAP3K5_uc011edk.1_Silent_p.Q381Q|MAP3K5_uc010kgw.1_Silent_p.Q536Q	p.Q536Q	NM_005923	NP_005914	Q99683	M3K5_HUMAN		GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)	10	1969	-	Colorectal(23;0.24)		536					A6NIA0|B4DGB2|Q5THN3|Q99461	Silent	SNP	ENST00000359015.4	37	c.1608A>G	CCDS5179.1																																																																																				0.393	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1			45	94	0	0	0	0	45	94				
OLIG3	167826	broad.mit.edu	37	6	137814642	137814642	+	Silent	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr6:137814642C>T	ENST00000367734.2	-	1	889	c.666G>A	c.(664-666)ccG>ccA	p.P222P		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	222					spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron migration (GO:0097476)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		GCAGCGCGGGCGGCGTGGAGG	0.711																																						uc003qhp.1		NA																	0					0						c.(664-666)CCG>CCA		oligodendrocyte transcription factor 3							10.0	13.0	12.0					6																	137814642		2146	4203	6349	SO:0001819	synonymous_variant	167826				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr6:137814642C>T	AK096362	CCDS5186.1	6q23.3	2013-05-21			ENSG00000177468	ENSG00000177468		"""Basic helix-loop-helix proteins"""	18003	protein-coding gene	gene with protein product		609323					Standard	NM_175747		Approved	Bhlhb7, bHLHe20	uc003qhp.1	Q7RTU3	OTTHUMG00000015657	ENST00000367734.2:c.666G>A	6.37:g.137814642C>T							p.P222P	NM_175747	NP_786923	Q7RTU3	OLIG3_HUMAN		GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)	1	890	-	Breast(32;0.165)|Colorectal(23;0.24)		222					Q8N8Q0	Silent	SNP	ENST00000367734.2	37	c.666G>A	CCDS5186.1																																																																																				0.711	OLIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042405.1	NM_175747		3	2	0	0	0	0	3	2				
FBXO30	84085	broad.mit.edu	37	6	146127529	146127529	+	Silent	SNP	G	G	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr6:146127529G>A	ENST00000237281.4	-	2	179	c.13C>T	c.(13-15)Ctg>Ttg	p.L5L		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	5							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		GAATGCTGCAGCTCCTCCTCC	0.413																																						uc003qla.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(13-15)CTG>TTG		F-box only protein 30							59.0	54.0	56.0					6																	146127529		2203	4300	6503	SO:0001819	synonymous_variant	84085						ubiquitin-protein ligase activity|zinc ion binding	g.chr6:146127529G>A	AF248640	CCDS5208.1	6q24	2008-02-05	2004-06-15		ENSG00000118496	ENSG00000118496		"""F-boxes /  ""other"""""	15600	protein-coding gene	gene with protein product		609101	"""F-box only protein, helicase, 18"""				Standard	XM_005267159		Approved	MGC21674, Fbx30	uc003qla.3	Q8TB52	OTTHUMG00000015749	ENST00000237281.4:c.13C>T	6.37:g.146127529G>A						uc003qky.1_Intron	p.L5L	NM_032145	NP_115521	Q8TB52	FBX30_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)	2	212	-		Ovarian(120;0.0776)	5					Q9BXZ7	Silent	SNP	ENST00000237281.4	37	c.13C>T	CCDS5208.1																																																																																				0.413	FBXO30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042570.2			10	24	0	0	0	0	10	24				
PDE10A	10846	broad.mit.edu	37	6	165752811	165752811	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr6:165752811G>A	ENST00000366882.1	-	21	2258	c.2104C>T	c.(2104-2106)Cct>Tct	p.P702S	PDE10A_ENST00000539869.2_Missense_Mutation_p.P712S|PDE10A_ENST00000354448.4_Missense_Mutation_p.P702S			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	702					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	TCCATCATAGGAATAGGCTGT	0.353																																					Esophageal Squamous(22;308 615 5753 12038 40624)	uc003qun.2		NA																	0				ovary(3)|skin(2)	5						c.(2104-2106)CCT>TCT		phosphodiesterase 10A isoform 2	Dipyridamole(DB00975)						142.0	143.0	143.0					6																	165752811		2203	4300	6503	SO:0001583	missense	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165752811G>A	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.2104C>T	6.37:g.165752811G>A	ENSP00000355847:p.Pro702Ser					PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.P632S|PDE10A_uc003quo.2_Missense_Mutation_p.P712S	p.P702S	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	21	2345	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	702					Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37	c.2104C>T		.	.	.	.	.	.	.	.	.	.	G	14.06	2.421482	0.42918	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.80566	-1.39;-1.39	5.78	5.78	0.91487	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.048042	0.85682	D	0.000000	T	0.69931	0.3166	L	0.45137	1.4	0.46631	D	0.999137	B;B	0.21821	0.037;0.061	B;B	0.21360	0.007;0.034	T	0.66716	-0.5853	10	0.54805	T	0.06	.	20.0124	0.97464	0.0:0.0:1.0:0.0	.	712;702	Q9ULW9;Q9Y233	.;PDE10_HUMAN	S	702;730;712;702;701	ENSP00000355847:P702S;ENSP00000346435:P702S	ENSP00000341187:P712S	P	-	1	0	PDE10A	165672801	1.000000	0.71417	0.037000	0.18230	0.715000	0.41141	6.066000	0.71185	2.749000	0.94314	0.655000	0.94253	CCT		0.353	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			22	61	0	0	0	0	22	61				
DLL1	28514	broad.mit.edu	37	6	170592411	170592411	+	Silent	SNP	G	G	A	rs140596420	byFrequency	TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr6:170592411G>A	ENST00000366756.3	-	9	2289	c.1956C>T	c.(1954-1956)acC>acT	p.T652T		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	652					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|cell-cell signaling (GO:0007267)|compartment pattern specification (GO:0007386)|determination of left/right symmetry (GO:0007368)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|inner ear development (GO:0048839)|left/right axis specification (GO:0070986)|loop of Henle development (GO:0072070)|negative regulation of auditory receptor cell differentiation (GO:0045608)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of myeloid cell differentiation (GO:0045638)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|regulation of cell adhesion (GO:0030155)|somite specification (GO:0001757)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		CCCTGACGGCGGTGTCGTCAC	0.662													G|||	2	0.000399361	0.0	0.0	5008	,	,		14845	0.0		0.0	False		,,,				2504	0.002					uc003qxm.2		NA																	0				lung(4)|ovary(1)	5						c.(1954-1956)ACC>ACT		delta-like 1 precursor		G		0,4406		0,0,2203	116.0	96.0	103.0		1956	-5.4	0.0	6	dbSNP_134	103	1,8599		0,1,4299	no	coding-synonymous	DLL1	NM_005618.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		652/724	170592411	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	28514				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding	g.chr6:170592411G>A	AF003522	CCDS5313.1	6q13-q22.33	2008-07-28	2001-12-03		ENSG00000198719	ENSG00000198719			2908	protein-coding gene	gene with protein product		606582	"""delta (Drosophila)-like 1"""				Standard	NM_005618		Approved		uc003qxm.3	O00548	OTTHUMG00000016078	ENST00000366756.3:c.1956C>T	6.37:g.170592411G>A							p.T652T	NM_005618	NP_005609	O00548	DLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)	9	2426	-		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	652			Cytoplasmic (Potential).		B2RAK7|B5M0B3|Q9NU41|Q9UJV2	Silent	SNP	ENST00000366756.3	37	c.1956C>T	CCDS5313.1																																																																																				0.662	DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043254.1			8	35	0	0	0	0	8	35				
MIOS	54468	broad.mit.edu	37	7	7628164	7628164	+	Silent	SNP	A	A	G			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr7:7628164A>G	ENST00000340080.4	+	8	2275	c.1854A>G	c.(1852-1854)gcA>gcG	p.A618A	MIOS_ENST00000405785.1_Silent_p.A618A	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	618						lysosomal membrane (GO:0005765)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACAGAGTGGCATTTGCTTGTA	0.348																																						uc003srf.2		NA																	0					0						c.(1852-1854)GCA>GCG		missing oocyte, meiosis regulator, homolog							101.0	99.0	100.0					7																	7628164		1850	4091	5941	SO:0001819	synonymous_variant	54468							g.chr7:7628164A>G		CCDS43554.1	7p21.3	2011-09-12			ENSG00000164654	ENSG00000164654			21905	protein-coding gene	gene with protein product	"""WD repeat-containing protein mio"""	615359				14973288	Standard	NM_019005		Approved	FLJ20323	uc003srf.3	Q9NXC5	OTTHUMG00000152440	ENST00000340080.4:c.1854A>G	7.37:g.7628164A>G						MIOS_uc003srg.2_Silent_p.A153A|MIOS_uc010ktq.2_Missense_Mutation_p.H16R	p.A618A	NM_019005	NP_061878	Q9NXC5	MIO_HUMAN			8	2162	+			618					B2RTV6|O75216|Q7L551|Q9H092	Silent	SNP	ENST00000340080.4	37	c.1854A>G	CCDS43554.1																																																																																				0.348	MIOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326218.1	NM_019005		27	36	0	0	0	0	27	36				
AMPH	273	broad.mit.edu	37	7	38530702	38530702	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr7:38530702T>C	ENST00000356264.2	-	5	559	c.344A>G	c.(343-345)gAt>gGt	p.D115G	AMPH_ENST00000325590.5_Missense_Mutation_p.D115G|AMPH_ENST00000428293.2_Missense_Mutation_p.D115G	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	115	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						CAAGGACCCATCCACGAGTTT	0.398																																						uc003tgu.2		NA																	0				ovary(3)|liver(1)|skin(1)	5						c.(343-345)GAT>GGT		amphiphysin isoform 1							170.0	166.0	167.0					7																	38530702		2203	4300	6503	SO:0001583	missense	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38530702T>C		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.344A>G	7.37:g.38530702T>C	ENSP00000348602:p.Asp115Gly					AMPH_uc003tgv.2_Missense_Mutation_p.D115G	p.D115G	NM_001635	NP_001626	P49418	AMPH_HUMAN			5	413	-			115			BAR.		A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	ENST00000356264.2	37	c.344A>G	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.382494	0.82792	.	.	ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000544070	T;T;T	0.61040	0.14;0.14;0.14	5.36	5.36	0.76844	BAR (3);	0.000000	0.85682	D	0.000000	T	0.79441	0.4446	M	0.89287	3.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.83652	0.0156	10	0.72032	D	0.01	-31.7713	14.3296	0.66545	0.0:0.0:0.0:1.0	.	115;115	P49418-2;P49418	.;AMPH_HUMAN	G	115	ENSP00000317441:D115G;ENSP00000348602:D115G;ENSP00000390734:D115G	ENSP00000317441:D115G	D	-	2	0	AMPH	38497227	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	6.990000	0.76225	2.032000	0.59987	0.377000	0.23210	GAT		0.398	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635		42	174	0	0	0	0	42	174				
ZNF479	90827	broad.mit.edu	37	7	57188062	57188062	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr7:57188062C>T	ENST00000331162.4	-	5	1330	c.1060G>A	c.(1060-1062)Gcc>Acc	p.A354T		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	354					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)			TCTTCACAGGCATAGGGTTTC	0.443																																						uc010kzo.2		NA																	0				ovary(3)|skin(1)	4						c.(1060-1062)GCC>ACC		zinc finger protein 479							24.0	27.0	26.0					7																	57188062		2070	4242	6312	SO:0001583	missense	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57188062C>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.1060G>A	7.37:g.57188062C>T	ENSP00000333776:p.Ala354Thr						p.A354T	NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	1331	-			354			C2H2-type 7.			Missense_Mutation	SNP	ENST00000331162.4	37	c.1060G>A	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	t	4.587	0.109134	0.08780	.	.	ENSG00000185177	ENST00000331162	T	0.07567	3.18	0.946	-1.89	0.07689	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04092	0.0114	N	0.10629	0.01	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37150	-0.9718	9	0.44086	T	0.13	.	7.3813	0.26858	0.0:0.6916:0.0:0.3084	.	354	Q96JC4	ZN479_HUMAN	T	354	ENSP00000333776:A354T	ENSP00000333776:A354T	A	-	1	0	ZNF479	57192004	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.456000	0.00231	-2.552000	0.00479	-2.557000	0.00176	GCC		0.443	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		4	11	0	0	0	0	4	11				
SSC4D	136853	broad.mit.edu	37	7	76021316	76021316	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr7:76021316T>A	ENST00000275560.3	-	10	1723	c.1376A>T	c.(1375-1377)gAg>gTg	p.E459V	SRCRB4D_ENST00000492979.2_5'UTR	NM_080744.1	NP_542782.1														autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						CCGCGTGGTCTCAGAACCATC	0.592																																						uc003ufb.2		NA																	0				pancreas(1)	1						c.(1375-1377)GAG>GTG		scavenger receptor cysteine rich domain							51.0	38.0	42.0					7																	76021316		2203	4298	6501	SO:0001583	missense	136853					extracellular region|membrane	scavenger receptor activity	g.chr7:76021316T>A																												ENST00000275560.3:c.1376A>T	7.37:g.76021316T>A	ENSP00000275560:p.Glu459Val					SRCRB4D_uc003ufa.2_5'UTR	p.E459V	NM_080744	NP_542782	Q8WTU2	SRB4D_HUMAN			10	1724	-			459						Missense_Mutation	SNP	ENST00000275560.3	37	c.1376A>T	CCDS5585.1	.	.	.	.	.	.	.	.	.	.	T	14.69	2.609518	0.46527	.	.	ENSG00000146700	ENST00000275560	T	0.01246	5.11	4.81	4.81	0.61882	.	0.612215	0.16525	N	0.210639	T	0.02119	0.0066	L	0.29908	0.895	0.36056	D	0.841125	D	0.59357	0.985	P	0.50934	0.654	T	0.68187	-0.5475	10	0.15066	T	0.55	.	10.9319	0.47222	0.0:0.0:0.0:1.0	.	459	Q8WTU2	SRB4D_HUMAN	V	459	ENSP00000275560:E459V	ENSP00000275560:E459V	E	-	2	0	SRCRB4D	75859252	0.997000	0.39634	1.000000	0.80357	0.908000	0.53690	0.981000	0.29526	2.163000	0.67991	0.402000	0.26972	GAG		0.592	SRCRB4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253001.3			5	10	0	0	0	0	5	10				
PON1	5444	broad.mit.edu	37	7	94931578	94931578	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr7:94931578C>G	ENST00000222381.3	-	8	1079	c.848G>C	c.(847-849)gGa>gCa	p.G283A	PON1_ENST00000542556.1_Missense_Mutation_p.G283A	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	283					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|dephosphorylation (GO:0016311)|organophosphate catabolic process (GO:0046434)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of binding (GO:0051099)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of transporter activity (GO:0032411)|response to external stimulus (GO:0009605)|response to toxic substance (GO:0009636)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|intracellular membrane-bounded organelle (GO:0043231)|spherical high-density lipoprotein particle (GO:0034366)	aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Cefazolin(DB01327)	GGGATGGCATCCAACCCAAAG	0.388																																					GBM(119;715 1622 17358 22490 33240)	uc003uns.2		NA																	0				pancreas(1)	1						c.(847-849)GGA>GCA		paraoxonase 1 precursor	Atorvastatin(DB01076)|Cefazolin(DB01327)						83.0	84.0	84.0					7																	94931578		2203	4300	6503	SO:0001583	missense	5444				aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity	g.chr7:94931578C>G	AF539592	CCDS5638.1	7q21.3	2014-03-14			ENSG00000005421	ENSG00000005421	3.1.1.2	"""Paraoxonases"""	9204	protein-coding gene	gene with protein product	"""esterase A"", ""arylesterase 1"""	168820		PON		8661009, 15450851	Standard	NM_000446		Approved	ESA	uc003uns.3	P27169	OTTHUMG00000153894	ENST00000222381.3:c.848G>C	7.37:g.94931578C>G	ENSP00000222381:p.Gly283Ala					PON1_uc011kih.1_Missense_Mutation_p.G283A	p.G283A	NM_000446	NP_000437	P27169	PON1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		8	945	-	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		283					B2RA40|Q16052|Q6B0J6|Q9UCB1	Missense_Mutation	SNP	ENST00000222381.3	37	c.848G>C	CCDS5638.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.957349	0.73902	.	.	ENSG00000005421	ENST00000222381;ENST00000542556	T;T	0.35973	1.28;1.28	4.67	3.79	0.43588	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.52613	0.1745	M	0.67517	2.055	0.80722	D	1	D;D	0.65815	0.995;0.992	P;P	0.57776	0.827;0.676	T	0.57266	-0.7841	10	0.45353	T	0.12	-13.594	15.9308	0.79656	0.0:0.8642:0.1358:0.0	.	283;283	F5H4W9;P27169	.;PON1_HUMAN	A	283	ENSP00000222381:G283A;ENSP00000444854:G283A	ENSP00000222381:G283A	G	-	2	0	PON1	94769514	0.999000	0.42202	0.961000	0.40146	0.915000	0.54546	4.896000	0.63222	1.551000	0.49450	0.650000	0.86243	GGA		0.388	PON1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000332865.2	NM_000446		13	65	0	0	0	0	13	65				
ARPC1A	10552	broad.mit.edu	37	7	98931012	98931012	+	Silent	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr7:98931012C>T	ENST00000262942.5	+	2	160	c.36C>T	c.(34-36)acC>acT	p.T12T	ARPC1A_ENST00000432884.2_5'UTR	NM_001190996.1|NM_006409.3	NP_001177925.1|NP_006400.2	Q92747	ARC1A_HUMAN	actin related protein 2/3 complex, subunit 1A, 41kDa	12					actin cytoskeleton organization (GO:0030036)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of actin filament polymerization (GO:0030833)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	actin binding (GO:0003779)			endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1)	19	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		STAD - Stomach adenocarcinoma(171;0.215)			AGCCAATCACCTGTCATGCCT	0.343																																						uc003upx.1		NA																	0				ovary(1)	1						c.(34-36)ACC>ACT		actin related protein 2/3 complex subunit 1A							200.0	194.0	196.0					7																	98931012		2203	4300	6503	SO:0001819	synonymous_variant	10552				actin cytoskeleton organization|regulation of actin filament polymerization	actin cytoskeleton|cytoplasm	actin binding	g.chr7:98931012C>T	Y08999	CCDS5660.1	7q22.1	2013-03-14	2002-08-29		ENSG00000241685	ENSG00000241685		"""Actin related protein 2/3 complex subunits"", ""WD repeat domain containing"""	703	protein-coding gene	gene with protein product	"""actin binding protein (Schizosaccharomyces pombe sop2-like)"", ""SOP2-like protein"""	604220	"""actin related protein 2/3 complex, subunit 1A (41 kD)"""			8978670, 9230079	Standard	NM_006409		Approved	SOP2Hs, SOP2L, Arc40	uc003upx.2	Q92747	OTTHUMG00000154553	ENST00000262942.5:c.36C>T	7.37:g.98931012C>T						ARPC1A_uc010lfu.1_RNA|ARPC1A_uc003upy.1_5'UTR|ARPC1A_uc011kit.1_RNA	p.T12T	NM_006409	NP_006400	Q92747	ARC1A_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		2	183	+	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		12			WD 1.		A4D276|B4DLQ7|D6W5S1|Q7Z5U8|Q86WU5|Q8IXQ0	Silent	SNP	ENST00000262942.5	37	c.36C>T	CCDS5660.1																																																																																				0.343	ARPC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335908.1	NM_006409		14	32	0	0	0	0	14	32				
CTTNBP2	83992	broad.mit.edu	37	7	117351772	117351772	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr7:117351772A>T	ENST00000160373.3	-	23	4902	c.4811T>A	c.(4810-4812)tTg>tAg	p.L1604*	CFTR_ENST00000608965.1_Intron	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1604					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TGAAACACCCAACTCAGTCTT	0.423																																						uc003vjf.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(4810-4812)TTG>TAG		cortactin binding protein 2							118.0	105.0	110.0					7																	117351772		2203	4300	6503	SO:0001587	stop_gained	83992							g.chr7:117351772A>T		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.4811T>A	7.37:g.117351772A>T	ENSP00000160373:p.Leu1604*						p.L1604*	NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	23	4903	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		1604					O43389|Q7LG11|Q9C0A5	Nonsense_Mutation	SNP	ENST00000160373.3	37	c.4811T>A	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	A	37	6.088817	0.97271	.	.	ENSG00000077063	ENST00000160373	.	.	.	5.87	-1.26	0.09376	.	1.070050	0.07105	N	0.841143	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.8042	12.2436	0.54558	0.4861:0.0:0.5139:0.0	.	.	.	.	X	1604	.	ENSP00000160373:L1604X	L	-	2	0	CTTNBP2	117139008	1.000000	0.71417	0.956000	0.39512	0.964000	0.63967	0.702000	0.25631	-0.208000	0.10171	-0.248000	0.11899	TTG		0.423	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		60	54	0	0	0	0	60	54				
CADPS2	93664	broad.mit.edu	37	7	122091450	122091450	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr7:122091450C>G	ENST00000449022.2	-	15	2285	c.2266G>C	c.(2266-2268)Gaa>Caa	p.E756Q	CADPS2_ENST00000412584.2_Missense_Mutation_p.E753Q|CADPS2_ENST00000334010.7_Missense_Mutation_p.E757Q|CADPS2_ENST00000313070.7_Missense_Mutation_p.E753Q	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	756	Interaction with DRD2.				cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						ATCTGATTTTCTAAAAGGGAA	0.299																																						uc010lkp.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2266-2268)GAA>CAA		Ca2+-dependent activator protein for secretion 2							34.0	32.0	33.0					7																	122091450		1779	4046	5825	SO:0001583	missense	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:122091450C>G		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.2266G>C	7.37:g.122091450C>G	ENSP00000398481:p.Glu756Gln					CADPS2_uc011knx.1_Missense_Mutation_p.E127Q|CADPS2_uc003vkg.3_Missense_Mutation_p.E453Q|CADPS2_uc010lkq.2_Missense_Mutation_p.E753Q	p.E756Q	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN			14	2429	-			756			Interaction with DRD2.		A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	ENST00000449022.2	37	c.2266G>C	CCDS55158.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.89|15.89	2.965118|2.965118	0.53507|0.53507	.|.	.|.	ENSG00000081803|ENSG00000081803	ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022|ENST00000397721	T;T;T;T|.	0.38077|.	1.16;1.16;1.16;1.16|.	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.62563|0.62563	0.2438|0.2438	L|L	0.48877|0.48877	1.53|1.53	0.58432|0.58432	D|D	0.999993|0.999993	B;B;B;B|.	0.26635|.	0.061;0.155;0.061;0.019|.	B;B;B;B|.	0.33799|.	0.029;0.17;0.029;0.021|.	T|T	0.58819|0.58819	-0.7569|-0.7569	10|5	0.66056|.	D|.	0.02|.	-22.1417|-22.1417	14.833|14.833	0.70162|0.70162	0.0:0.8564:0.1435:0.0|0.0:0.8564:0.1435:0.0	.|.	756;753;756;753|.	B7ZM57;Q86UW7-2;Q86UW7;Q86UW7-3|.	.;.;CAPS2_HUMAN;.|.	Q|T	753;757;757;720;753;756|401	ENSP00000325581:E753Q;ENSP00000333940:E757Q;ENSP00000400401:E753Q;ENSP00000398481:E756Q|.	ENSP00000325581:E753Q|.	E|R	-|-	1|2	0|0	CADPS2|CADPS2	121878686|121878686	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.130000|5.130000	0.64745|0.64745	2.550000|2.550000	0.86006|0.86006	0.585000|0.585000	0.79938|0.79938	GAA|AGA		0.299	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		5	30	0	0	0	0	5	30				
TRIM24	8805	broad.mit.edu	37	7	138252382	138252382	+	Missense_Mutation	SNP	C	C	A	rs200791059		TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr7:138252382C>A	ENST00000343526.4	+	10	1902	c.1687C>A	c.(1687-1689)Caa>Aaa	p.Q563K	TRIM24_ENST00000415680.2_Missense_Mutation_p.Q529K|TRIM24_ENST00000497516.1_3'UTR			O15164	TIF1A_HUMAN	tripartite motif containing 24	563					calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						TTTCTTGGCTCAACAAGCCAT	0.388																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)	uc003vuc.2		NA																	0				central_nervous_system(3)|ovary(2)|stomach(1)|breast(1)|skin(1)	8						c.(1687-1689)CAA>AAA		transcriptional intermediary factor 1 alpha							74.0	70.0	71.0					7																	138252382		2203	4300	6503	SO:0001583	missense	8805				cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:138252382C>A	AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	11812	protein-coding gene	gene with protein product		603406	"""transcriptional intermediary factor 1"", ""tripartite motif-containing 24"""	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.1687C>A	7.37:g.138252382C>A	ENSP00000340507:p.Gln563Lys					TRIM24_uc003vub.2_Missense_Mutation_p.Q529K	p.Q563K	NM_015905	NP_056989	O15164	TIF1A_HUMAN			10	1902	+			563					A4D1R7|A4D1R8|O95854	Missense_Mutation	SNP	ENST00000343526.4	37	c.1687C>A	CCDS5847.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.120654	0.37436	.	.	ENSG00000122779	ENST00000343526;ENST00000536822;ENST00000415680;ENST00000378381	T;T	0.78481	-1.06;-1.18	5.66	5.66	0.87406	.	0.120909	0.64402	D	0.000020	T	0.70046	0.3179	L	0.44542	1.39	0.42120	D	0.991429	B;B	0.28933	0.07;0.228	B;B	0.24394	0.024;0.053	T	0.65985	-0.6035	10	0.15499	T	0.54	-7.997	17.5182	0.87780	0.0:1.0:0.0:0.0	.	563;529	O15164;O15164-2	TIF1A_HUMAN;.	K	563;474;529;487	ENSP00000340507:Q563K;ENSP00000390829:Q529K	ENSP00000340507:Q563K	Q	+	1	0	TRIM24	137902922	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.676000	0.61627	2.672000	0.90937	0.591000	0.81541	CAA		0.388	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341814.1	NM_015905		10	44	1	0	5.62e-17	6.64e-17	10	44				
SSPO	23145	broad.mit.edu	37	7	149474828	149474828	+	RNA	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr7:149474828C>T	ENST00000378016.2	+	0	627							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)			TTGATGGCCGCCACTATCACT	0.697																																						uc010lpk.2		NA																	0					0						c.(625-627)CGC>CGT		SCO-spondin precursor							14.0	19.0	17.0					7																	149474828		2039	4177	6216			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149474828C>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.149474828C>T						SSPO_uc010lpl.1_Intron	p.R209R	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		5	627	+	Melanoma(164;0.165)|Ovarian(565;0.177)		209			VWFD 1.		Q76B61	Silent	SNP	ENST00000378016.2	37	c.627C>T																																																																																					0.697	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				12	13	0	0	0	0	12	13				
RP1	6101	broad.mit.edu	37	8	55541985	55541985	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr8:55541985C>A	ENST00000220676.1	+	4	5691	c.5543C>A	c.(5542-5544)gCa>gAa	p.A1848E		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1848					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GAAAGAATAGCAAATCATCAT	0.413																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1		NA																	0				skin(7)|ovary(4)|pancreas(1)	12						c.(5542-5544)GCA>GAA		retinitis pigmentosa RP1 protein							106.0	101.0	103.0					8																	55541985		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55541985C>A	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.5543C>A	8.37:g.55541985C>A	ENSP00000220676:p.Ala1848Glu					RP1_uc011ldy.1_Intron	p.A1848E	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	5691	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1848						Missense_Mutation	SNP	ENST00000220676.1	37	c.5543C>A	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	7.036	0.561679	0.13498	.	.	ENSG00000104237	ENST00000220676	T	0.44881	0.91	5.83	4.94	0.65067	.	0.888218	0.09481	N	0.796412	T	0.25121	0.0610	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.14023	0.01	T	0.15065	-1.0450	10	0.87932	D	0	.	7.0695	0.25171	0.0:0.5695:0.3282:0.1024	.	1848	P56715	RP1_HUMAN	E	1848	ENSP00000220676:A1848E	ENSP00000220676:A1848E	A	+	2	0	RP1	55704538	0.000000	0.05858	0.016000	0.15963	0.423000	0.31445	0.610000	0.24253	1.438000	0.47492	0.655000	0.94253	GCA		0.413	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		11	78	1	0	2.81e-09	3.18e-09	11	78				
CYP7A1	1581	broad.mit.edu	37	8	59410989	59410989	+	Silent	SNP	T	T	C			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr8:59410989T>C	ENST00000301645.3	-	2	257	c.120A>G	c.(118-120)ccA>ccG	p.P40P		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	40					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cholesterol catabolic process (GO:0006707)|cholesterol homeostasis (GO:0042632)|regulation of bile acid biosynthetic process (GO:0070857)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	cholesterol 7-alpha-monooxygenase activity (GO:0008123)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				AGCCCAGGTATGGAATTAATC	0.418									Neonatal Giant Cell Hepatitis																													uc003xtm.3		NA																	0				ovary(1)	1						c.(118-120)CCA>CCG		cytochrome P450, family 7, subfamily A,							124.0	121.0	122.0					8																	59410989		2203	4300	6503	SO:0001819	synonymous_variant	1581	Neonatal_Giant_Cell_Hepatitis	Familial Cancer Database	Neonatal Hemochromatosis	bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding	g.chr8:59410989T>C	M89803	CCDS6171.1	8q11-q12	2010-05-04	2003-01-14		ENSG00000167910	ENSG00000167910	1.14.13.17	"""Cytochrome P450s"""	2651	protein-coding gene	gene with protein product	"""cholesterol 7 alpha-monooxygenase"""	118455	"""cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1"""	CYP7		1358792	Standard	NM_000780		Approved		uc003xtm.4	P22680	OTTHUMG00000164301	ENST00000301645.3:c.120A>G	8.37:g.59410989T>C							p.P40P	NM_000780	NP_000771	P22680	CP7A1_HUMAN			2	183	-		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)	40					P78454|Q3MIL8|Q7KZ19	Silent	SNP	ENST00000301645.3	37	c.120A>G	CCDS6171.1																																																																																				0.418	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378190.1	NM_000780		72	210	0	0	0	0	72	210				
SLCO5A1	81796	broad.mit.edu	37	8	70744483	70744483	+	Silent	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr8:70744483C>T	ENST00000260126.4	-	2	1132	c.426G>A	c.(424-426)gcG>gcA	p.A142A	RP11-159H10.3_ENST00000501104.2_RNA|RP11-159H10.3_ENST00000528800.2_RNA|SLCO5A1_ENST00000530307.1_Silent_p.A142A|SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000524945.1_Silent_p.A142A|RP11-159H10.3_ENST00000533300.1_RNA	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	142						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			AGACCATTAACGCCTGGATGA	0.557											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003xyl.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(424-426)GCG>GCA		solute carrier organic anion transporter family,							97.0	92.0	94.0					8																	70744483		2203	4300	6503	SO:0001819	synonymous_variant	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70744483C>T	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.426G>A	8.37:g.70744483C>T			OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1124	SLCO5A1_uc010lzb.2_Silent_p.A142A|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Silent_p.A142A|SLCO5A1_uc010lzc.2_Silent_p.A142A	p.A142A	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		2	1133	-	Breast(64;0.0654)		142			Helical; Name=1; (Potential).		A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Silent	SNP	ENST00000260126.4	37	c.426G>A	CCDS6205.1																																																																																				0.557	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		7	52	0	0	0	0	7	52				
ATP6V0D2	245972	broad.mit.edu	37	8	87163762	87163762	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr8:87163762A>G	ENST00000285393.3	+	7	1026	c.884A>G	c.(883-885)gAg>gGg	p.E295G	CTD-3118D11.2_ENST00000524253.1_RNA|CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	295			E -> K (in dbSNP:rs4263741).		ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen ion transmembrane transporter activity (GO:0015078)			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						GTGTTTTACGAGCGTGAGGTA	0.328																																						uc003ydp.1		NA																	0					0						c.(883-885)GAG>GGG		ATPase, H+ transporting, lysosomal 38kDa, V0							105.0	106.0	106.0					8																	87163762		2203	4300	6503	SO:0001583	missense	245972				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding	g.chr8:87163762A>G	AY079172	CCDS6241.1	8q21.3	2014-01-28	2006-01-20	2002-05-24	ENSG00000147614	ENSG00000147614		"""ATPases / V-type"""	18266	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 38kD, V0 subunit d isoform 2"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 2"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D2"""			12384298	Standard	NM_152565		Approved	FLJ38708, VMA6, ATP6D2	uc003ydp.1	Q8N8Y2	OTTHUMG00000163637	ENST00000285393.3:c.884A>G	8.37:g.87163762A>G	ENSP00000285393:p.Glu295Gly						p.E295G	NM_152565	NP_689778	Q8N8Y2	VA0D2_HUMAN			7	953	+			295						Missense_Mutation	SNP	ENST00000285393.3	37	c.884A>G	CCDS6241.1	.	.	.	.	.	.	.	.	.	.	A	17.56	3.420666	0.62622	.	.	ENSG00000147614	ENST00000285393	T	0.32272	1.46	5.74	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.53786	0.1818	M	0.92077	3.27	0.58432	D	0.999999	P	0.52692	0.955	P	0.51324	0.666	T	0.64236	-0.6455	10	0.59425	D	0.04	-15.9586	12.2888	0.54807	0.8582:0.1418:0.0:0.0	.	295	Q8N8Y2	VA0D2_HUMAN	G	295	ENSP00000285393:E295G	ENSP00000285393:E295G	E	+	2	0	ATP6V0D2	87232878	1.000000	0.71417	0.819000	0.32651	0.453000	0.32348	8.190000	0.89714	0.985000	0.38656	0.482000	0.46254	GAG		0.328	ATP6V0D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374651.1	NM_152565		15	51	0	0	0	0	15	51				
VPS13B	157680	broad.mit.edu	37	8	100789144	100789144	+	Silent	SNP	G	G	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr8:100789144G>A	ENST00000358544.2	+	41	7575	c.7464G>A	c.(7462-7464)ctG>ctA	p.L2488L	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.L2463L	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2488					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTGCTCACCTGGAATTCCATC	0.438																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2		NA																	0				ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(7462-7464)CTG>CTA		vacuolar protein sorting 13B isoform 5							270.0	220.0	237.0					8																	100789144		2203	4300	6503	SO:0001819	synonymous_variant	157680				protein transport			g.chr8:100789144G>A	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.7464G>A	8.37:g.100789144G>A						VPS13B_uc003yiw.2_Silent_p.L2463L	p.L2488L	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		41	7575	+	Breast(36;3.73e-07)		2488					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	37	c.7464G>A	CCDS6280.1																																																																																				0.438	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		84	226	0	0	0	0	84	226				
KCNV1	27012	broad.mit.edu	37	8	110984585	110984585	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr8:110984585C>A	ENST00000524391.1	-	3	1925	c.893G>T	c.(892-894)aGc>aTc	p.S298I	KCNV1_ENST00000297404.1_Missense_Mutation_p.S298I|RP11-696P8.2_ENST00000530667.1_RNA			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	298					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CGTGGTCTGGCTCCCACTTAG	0.562																																						uc003ynr.3		NA																	0				lung(1)|kidney(1)	2						c.(892-894)AGC>ATC		potassium channel, subfamily V, member 1							93.0	75.0	81.0					8																	110984585		2203	4300	6503	SO:0001583	missense	27012					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr8:110984585C>A	AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.893G>T	8.37:g.110984585C>A	ENSP00000435954:p.Ser298Ile					KCNV1_uc010mcw.2_Missense_Mutation_p.S298I	p.S298I	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)		2	1235	-	all_neural(195;0.219)		298			Extracellular (Potential).		Q9UHJ4	Missense_Mutation	SNP	ENST00000524391.1	37	c.893G>T	CCDS6314.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.958280	0.53400	.	.	ENSG00000164794	ENST00000524391;ENST00000297404;ENST00000545728	D;D	0.98493	-4.96;-4.96	5.95	5.06	0.68205	Ion transport (1);	0.470002	0.20333	N	0.094392	D	0.97105	0.9054	L	0.56769	1.78	0.34779	D	0.73457	B	0.32425	0.371	B	0.39152	0.292	D	0.99936	1.1359	10	0.46703	T	0.11	.	12.8584	0.57899	0.0:0.9239:0.0:0.0761	.	298	Q6PIU1	KCNV1_HUMAN	I	298;298;174	ENSP00000435954:S298I;ENSP00000297404:S298I	ENSP00000297404:S298I	S	-	2	0	KCNV1	111053761	0.995000	0.38212	1.000000	0.80357	0.989000	0.77384	3.413000	0.52686	2.817000	0.96982	0.563000	0.77884	AGC		0.562	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385525.1	NM_014379		14	48	1	0	2.32e-09	2.64e-09	14	48				
GSDMC	56169	broad.mit.edu	37	8	130765053	130765053	+	Silent	SNP	G	G	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr8:130765053G>A	ENST00000276708.4	-	7	1616	c.735C>T	c.(733-735)tcC>tcT	p.S245S		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	245						cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						ctaccatttcggaaatttcgt	0.478																																						uc003ysr.2		NA																	0				ovary(2)|skin(1)	3						c.(733-735)TCC>TCT		melanoma-derived leucine zipper, extra-nuclear							154.0	134.0	141.0					8																	130765053		2203	4300	6503	SO:0001819	synonymous_variant	56169					mitochondrion		g.chr8:130765053G>A	AB042405	CCDS6360.1	8q24.21	2014-05-14	2008-07-31	2008-07-31	ENSG00000147697	ENSG00000147697			7151	protein-coding gene	gene with protein product		608384	"""melanoma-derived leucine zipper, extra-nuclear factor"""	MLZE		17350798	Standard	NM_031415		Approved		uc003ysr.3	Q9BYG8	OTTHUMG00000164851	ENST00000276708.4:c.735C>T	8.37:g.130765053G>A							p.S245S	NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN			7	1617	-			245					Q5XKF3|Q6P494	Silent	SNP	ENST00000276708.4	37	c.735C>T	CCDS6360.1																																																																																				0.478	GSDMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380586.1			13	86	0	0	0	0	13	86				
TG	7038	broad.mit.edu	37	8	133881999	133881999	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr8:133881999C>A	ENST00000220616.4	+	3	242	c.202C>A	c.(202-204)Cgc>Agc	p.R68S	TG_ENST00000377869.1_Missense_Mutation_p.R68S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	68	Thyroglobulin type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.R68G(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GAACGACGGCCGCTCCTGCTG	0.652																																						uc003ytw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(202-204)CGC>AGC		thyroglobulin precursor							59.0	55.0	57.0					8																	133881999		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133881999C>A	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.202C>A	8.37:g.133881999C>A	ENSP00000220616:p.Arg68Ser						p.R68S	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	3	243	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	68			Thyroglobulin type-1 1.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.202C>A	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.257790	0.39896	.	.	ENSG00000042832	ENST00000377869;ENST00000220616;ENST00000535932	T;T	0.62232	0.04;0.04	5.44	3.63	0.41609	Thyroglobulin type-1 (6);	0.997292	0.08122	N	0.994581	T	0.49762	0.1576	L	0.31420	0.93	0.09310	N	1	P	0.40602	0.723	B	0.35727	0.209	T	0.17228	-1.0376	10	0.18710	T	0.47	.	13.6574	0.62346	0.0:0.6891:0.3109:0.0	.	68	P01266	THYG_HUMAN	S	68	ENSP00000367100:R68S;ENSP00000220616:R68S	ENSP00000220616:R68S	R	+	1	0	TG	133951181	0.000000	0.05858	0.000000	0.03702	0.195000	0.23768	0.024000	0.13555	0.649000	0.30751	0.462000	0.41574	CGC		0.652	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		61	40	1	0	1.41e-22	1.7e-22	61	40				
ZFAT	57623	broad.mit.edu	37	8	135524795	135524795	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr8:135524795G>A	ENST00000377838.3	-	14	3458	c.3284C>T	c.(3283-3285)aCa>aTa	p.T1095I	ZFAT_ENST00000517307.1_5'Flank|ZFAT_ENST00000429442.2_Missense_Mutation_p.T1083I|ZFAT_ENST00000520727.1_Missense_Mutation_p.T1083I|ZFAT_ENST00000520214.1_Missense_Mutation_p.T1083I|ZFAT_ENST00000523399.1_Missense_Mutation_p.T1033I|ZFAT_ENST00000520356.1_Intron	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	1095					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TTCGGCCTCTGTGATGTGGAG	0.522																																						uc003yup.2		NA																	0				central_nervous_system(1)	1						c.(3283-3285)ACA>ATA		zinc finger protein 406 isoform ZFAT-1							150.0	157.0	155.0					8																	135524795		1975	4151	6126	SO:0001583	missense	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135524795G>A	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.3284C>T	8.37:g.135524795G>A	ENSP00000367069:p.Thr1095Ile					ZFAT_uc011ljj.1_Missense_Mutation_p.T214I|ZFAT_uc003yun.2_Missense_Mutation_p.T1083I|ZFAT_uc003yuo.2_Missense_Mutation_p.T1083I|ZFAT_uc010meh.2_Intron|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.T1083I|ZFAT_uc010mej.2_Missense_Mutation_p.T1033I	p.T1095I	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		14	3459	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		1095					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	c.3284C>T	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.132013	0.56828	.	.	ENSG00000066827	ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399	T;T;T;T;T	0.10288	2.9;2.89;2.9;2.9;2.92	4.8	4.8	0.61643	.	0.376195	0.30528	N	0.009436	T	0.11965	0.0291	N	0.24115	0.695	0.37445	D	0.914592	P;P;P	0.50272	0.933;0.664;0.808	P;B;B	0.46479	0.518;0.235;0.348	T	0.10543	-1.0625	10	0.42905	T	0.14	-4.9829	17.3851	0.87413	0.0:0.0:1.0:0.0	.	214;1033;1095	B7Z741;E9PER3;Q9P243	.;.;ZFAT_HUMAN	I	1083;1083;1095;1083;982;1033	ENSP00000427831:T1083I;ENSP00000394501:T1083I;ENSP00000367069:T1095I;ENSP00000428483:T1083I;ENSP00000429091:T1033I	ENSP00000326997:T982I	T	-	2	0	ZFAT	135593977	1.000000	0.71417	0.941000	0.38009	0.812000	0.45895	7.316000	0.79007	2.648000	0.89879	0.563000	0.77884	ACA		0.522	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		34	229	0	0	0	0	34	229				
TRPM3	80036	broad.mit.edu	37	9	73399062	73399062	+	Silent	SNP	C	C	T	rs372294629	byFrequency	TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr9:73399062C>T	ENST00000377111.2	-	7	1350	c.1107G>A	c.(1105-1107)tcG>tcA	p.S369S	TRPM3_ENST00000361823.5_Silent_p.S216S|TRPM3_ENST00000396283.1_Silent_p.S241S|TRPM3_ENST00000360823.2_Silent_p.S241S|TRPM3_ENST00000357533.2_Silent_p.S371S|TRPM3_ENST00000396280.5_Silent_p.S216S|TRPM3_ENST00000408909.2_Silent_p.S216S|TRPM3_ENST00000377110.3_Silent_p.S369S|TRPM3_ENST00000377105.1_Silent_p.S216S|TRPM3_ENST00000358082.3_Silent_p.S241S|TRPM3_ENST00000377101.1_Silent_p.S216S|TRPM3_ENST00000396292.4_Silent_p.S241S|TRPM3_ENST00000396285.1_Silent_p.S216S|TRPM3_ENST00000377106.1_Silent_p.S241S|TRPM3_ENST00000423814.3_Silent_p.S396S	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	394					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CCAGGATGTCCGATGCCCGTC	0.527													C|||	7	0.00139776	0.0045	0.0	5008	,	,		15992	0.001		0.0	False		,,,				2504	0.0					uc004aid.2		NA																	0				ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						c.(1105-1107)TCG>TCA		transient receptor potential cation channel,		C	,,,,,,,,	2,4404	4.2+/-10.8	0,2,2201	110.0	97.0	101.0		723,1107,648,648,648,648,723,723,648	-11.8	0.0	9		101	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TRPM3	NM_001007470.1,NM_001007471.2,NM_020952.4,NM_024971.5,NM_206944.3,NM_206945.3,NM_206946.3,NM_206947.3,NM_206948.2	,,,,,,,,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,,,,,,,,	241/256,369/1708,216/1555,216/1567,216/1545,216/1557,241/1580,241/1570,216/231	73399062	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	80036					integral to membrane	calcium channel activity	g.chr9:73399062C>T	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.1107G>A	9.37:g.73399062C>T						TRPM3_uc004ahu.2_Silent_p.S199S|TRPM3_uc004ahv.2_Silent_p.S199S|TRPM3_uc004ahw.2_Silent_p.S241S|TRPM3_uc004ahx.2_Silent_p.S216S|TRPM3_uc004ahy.2_Silent_p.S241S|TRPM3_uc004ahz.2_Silent_p.S216S|TRPM3_uc004aia.2_Silent_p.S216S|TRPM3_uc004aib.2_Silent_p.S216S|TRPM3_uc004aic.2_Silent_p.S369S|TRPM3_uc010mor.2_Silent_p.S369S|TRPM3_uc004aie.2_Silent_p.S216S|TRPM3_uc004aif.2_Silent_p.S241S|TRPM3_uc004aig.2_Silent_p.S216S	p.S369S	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN			7	1351	-			394			Cytoplasmic (Potential).		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Silent	SNP	ENST00000377111.2	37	c.1107G>A		.	.	.	.	.	.	.	.	.	.	C	7.351	0.622884	0.14193	4.54E-4	0.0	ENSG00000083067	ENST00000396280	.	.	.	5.91	-11.8	0.00035	.	.	.	.	.	T	0.58352	0.2116	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.78132	-0.2323	4	.	.	.	-24.0923	14.8762	0.70496	0.2317:0.2271:0.5412:0.0	.	.	.	.	R	216	.	.	G	-	1	0	TRPM3	72588882	0.006000	0.16342	0.007000	0.13788	0.834000	0.47266	-0.933000	0.03959	-4.369000	0.00053	-1.720000	0.00707	GGA		0.527	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		33	19	0	0	0	0	33	19				
PRUNE2	158471	broad.mit.edu	37	9	79323433	79323433	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr9:79323433G>T	ENST00000376718.3	-	8	3880	c.3757C>A	c.(3757-3759)Ccc>Acc	p.P1253T	PRUNE2_ENST00000428286.1_Missense_Mutation_p.P894T	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1253					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GAATGGCTGGGGATTTCAGGA	0.453																																						uc010mpk.2		NA																	0					0						c.(3757-3759)CCC>ACC		prune homolog 2							90.0	80.0	83.0					9																	79323433		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79323433G>T	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.3757C>A	9.37:g.79323433G>T	ENSP00000365908:p.Pro1253Thr						p.P1253T	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			8	3881	-			1253					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.3757C>A	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.047|0.047	-1.263825|-1.263825	0.01433|0.01433	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000426088|ENST00000376718;ENST00000428286;ENST00000422033	.|T;T	.|0.49139	.|0.79;0.8	5.54|5.54	-1.31|-1.31	0.09230|0.09230	.|.	0.908800|0.908800	0.09302|0.09302	N|N	0.820799|0.820799	T|T	0.33614|0.33614	0.0869|0.0869	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.06405	.|0.002	T|T	0.28299|0.28299	-1.0048|-1.0048	6|10	.|0.21540	.|T	.|0.41	0.2142|0.2142	1.2159|1.2159	0.01914|0.01914	0.3327:0.103:0.3535:0.2108|0.3327:0.103:0.3535:0.2108	.|.	.|1253	.|Q8WUY3	.|PRUN2_HUMAN	H|T	574|1253;894;1252	.|ENSP00000365908:P1253T;ENSP00000397425:P894T	.|ENSP00000365908:P1253T	P|P	-|-	2|1	0|0	PRUNE2|PRUNE2	78513253|78513253	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.026000|0.026000	0.11368|0.11368	-0.109000|-0.109000	0.10840|0.10840	-0.236000|-0.236000	0.09753|0.09753	-0.384000|-0.384000	0.06662|0.06662	CCC|CCC		0.453	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		22	11	1	0	2.22e-12	2.58e-12	22	11				
COL15A1	1306	broad.mit.edu	37	9	101816858	101816858	+	Splice_Site	SNP	G	G	T	rs140851301	byFrequency	TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr9:101816858G>T	ENST00000375001.3	+	32	3374	c.2951G>T	c.(2950-2952)gGt>gTt	p.G984V		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	984	Triple-helical region 6 (COL6).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TTGGTGGCAGGTGTTAAAGGA	0.433																																						uc004azb.1		NA																	0				ovary(6)	6						c.(2950-2952)GGT>GTT		alpha 1 type XV collagen precursor							77.0	82.0	80.0					9																	101816858		2203	4300	6503	SO:0001630	splice_region_variant	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101816858G>T	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.2951-1G>T	9.37:g.101816858G>T							p.G984V	NM_001855	NP_001846	P39059	COFA1_HUMAN			32	3157	+		Acute lymphoblastic leukemia(62;0.0562)	984			Triple-helical region 6 (COL6).		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	c.2951G>T	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.560770	0.45590	.	.	ENSG00000204291	ENST00000375001	T	0.30448	1.53	5.67	5.67	0.87782	C-type lectin fold (1);	0.000000	0.64402	D	0.000005	T	0.63426	0.2510	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.69262	-0.5191	9	.	.	.	.	15.6217	0.76810	0.0:0.0:1.0:0.0	.	984	P39059	COFA1_HUMAN	V	984	ENSP00000364140:G984V	.	G	+	2	0	COL15A1	100856679	1.000000	0.71417	1.000000	0.80357	0.667000	0.39255	5.236000	0.65354	2.837000	0.97791	0.655000	0.94253	GGT		0.433	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855	Missense_Mutation	21	8	1	0	3.62e-10	4.16e-10	21	8				
OR13F1	138805	broad.mit.edu	37	9	107267404	107267404	+	Silent	SNP	T	T	C			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr9:107267404T>C	ENST00000334726.2	+	1	950	c.861T>C	c.(859-861)ccT>ccC	p.P287P		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	287						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TGTTGAATCCTATCATCTATA	0.418																																						uc011lvm.1		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(859-861)CCT>CCC		olfactory receptor, family 13, subfamily F,							59.0	59.0	59.0					9																	107267404		2203	4300	6503	SO:0001819	synonymous_variant	138805				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107267404T>C		CCDS35087.1	9q31.1	2013-09-24			ENSG00000186881	ENSG00000186881		"""GPCR / Class A : Olfactory receptors"""	14723	protein-coding gene	gene with protein product							Standard	NM_001004485		Approved		uc011lvm.2	Q8NGS4	OTTHUMG00000020404	ENST00000334726.2:c.861T>C	9.37:g.107267404T>C							p.P287P	NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN			1	861	+			287			Helical; Name=7; (Potential).		Q6IF50	Silent	SNP	ENST00000334726.2	37	c.861T>C	CCDS35087.1																																																																																				0.418	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053475.1			41	6	0	0	0	0	41	6				
C9orf43	257169	broad.mit.edu	37	9	116191548	116191548	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr9:116191548C>T	ENST00000288462.4	+	14	1714	c.1268C>T	c.(1267-1269)tCc>tTc	p.S423F	C9orf43_ENST00000374165.1_Missense_Mutation_p.S423F	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	423										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						AAGAAGATCTCCTTTAACTTT	0.468																																						uc004bho.3		NA																	0					0						c.(1267-1269)TCC>TTC		hypothetical protein LOC257169							100.0	102.0	101.0					9																	116191548		2203	4300	6503	SO:0001583	missense	257169							g.chr9:116191548C>T	BC026884	CCDS6796.1	9q33.1	2012-03-15			ENSG00000157653	ENSG00000157653			23570	protein-coding gene	gene with protein product						12477932	Standard	NM_152786		Approved	MGC17358	uc004bhp.3	Q8TAL5	OTTHUMG00000020526	ENST00000288462.4:c.1268C>T	9.37:g.116191548C>T	ENSP00000288462:p.Ser423Phe					C9orf43_uc004bhp.2_Missense_Mutation_p.S423F	p.S423F	NM_152786	NP_689999	Q8TAL5	CI043_HUMAN			14	1664	+			423						Missense_Mutation	SNP	ENST00000288462.4	37	c.1268C>T	CCDS6796.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.006798	0.35415	.	.	ENSG00000157653	ENST00000374165;ENST00000288462	T;T	0.48836	0.8;0.8	3.55	-0.703	0.11261	.	2.541490	0.01952	N	0.042684	T	0.30262	0.0759	N	0.14661	0.345	0.09310	N	1	B	0.15141	0.012	B	0.08055	0.003	T	0.22521	-1.0214	10	0.56958	D	0.05	2.8161	3.7904	0.08718	0.0:0.486:0.1867:0.3272	.	423	Q8TAL5	CI043_HUMAN	F	423	ENSP00000363280:S423F;ENSP00000288462:S423F	ENSP00000288462:S423F	S	+	2	0	C9orf43	115231369	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.467000	0.22035	-0.136000	0.11475	0.467000	0.42956	TCC		0.468	C9orf43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053739.1	NM_152786		19	67	0	0	0	0	19	67				
ZER1	10444	broad.mit.edu	37	9	131515598	131515598	+	Silent	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr9:131515598C>T	ENST00000291900.2	-	4	997	c.591G>A	c.(589-591)ccG>ccA	p.P197P	ZER1_ENST00000494461.1_5'UTR	NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	197					protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein transferase activity (GO:0051438)	Cul2-RING ubiquitin ligase complex (GO:0031462)	ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						GGGAGTTAAGCGGCCGCAGCA	0.602																																						uc004bwa.1		NA																	0				ovary(1)	1						c.(589-591)CCG>CCA		zyg-11 homolog B (C. elegans)-like							43.0	36.0	38.0					9																	131515598		2202	4300	6502	SO:0001819	synonymous_variant	10444				ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity	g.chr9:131515598C>T	X99802	CCDS6910.1	9q33.3	2013-01-17	2012-12-10	2007-01-04	ENSG00000160445	ENSG00000160445		"""ZYG11 cell cycle regulator family"""	30960	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 60"", ""zyg-11 homolog B (C. elegans)-like"", ""zer-1 homolog (C. elegans)"""	C9orf60, ZYG11BL		11719588	Standard	NM_006336		Approved	ZYG, Hzyg	uc004bwa.2	Q7Z7L7	OTTHUMG00000020759	ENST00000291900.2:c.591G>A	9.37:g.131515598C>T							p.P197P	NM_006336	NP_006327	Q7Z7L7	ZER1_HUMAN			4	1024	-			197					O00156|Q5T272|Q5T273	Silent	SNP	ENST00000291900.2	37	c.591G>A	CCDS6910.1																																																																																				0.602	ZER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054491.1	NM_006336		8	5	0	0	0	0	8	5				
RS1	6247	broad.mit.edu	37	X	18660166	18660166	+	Silent	SNP	G	G	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chrX:18660166G>A	ENST00000379984.3	-	6	673	c.633C>T	c.(631-633)gcC>gcT	p.A211A	RS1_ENST00000476595.1_5'UTR|CDKL5_ENST00000379996.3_Intron|CDKL5_ENST00000379989.3_Intron	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	211	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				adaptation of rhodopsin mediated signaling (GO:0016062)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|retina layer formation (GO:0010842)|visual perception (GO:0007601)	extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					CCATCCGGATGGCAATGCGGA	0.677																																						uc004cyo.2		NA																	0				ovary(2)	2						c.(631-633)GCC>GCT		X-linked juvenile retinoschisis protein							57.0	52.0	54.0					X																	18660166		2203	4300	6503	SO:0001819	synonymous_variant	6247				cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space		g.chrX:18660166G>A	AF014459	CCDS14187.1	Xp22.2-p22.1	2014-09-17	2008-07-29		ENSG00000102104	ENSG00000102104			10457	protein-coding gene	gene with protein product		300839	"""retinoschisis (X-linked, juvenile) 1"""	RS		9326935, 17804407	Standard	NM_000330		Approved	XLRS1	uc004cyo.3	O15537	OTTHUMG00000021216	ENST00000379984.3:c.633C>T	X.37:g.18660166G>A						CDKL5_uc004cym.2_Intron|CDKL5_uc004cyn.2_Intron	p.A211A	NM_000330	NP_000321	O15537	XLRS1_HUMAN			6	668	-	Hepatocellular(33;0.183)		211			F5/8 type C.		Q0QD39	Silent	SNP	ENST00000379984.3	37	c.633C>T	CCDS14187.1																																																																																				0.677	RS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055949.1			34	10	0	0	0	0	34	10				
ASB12	142689	broad.mit.edu	37	X	63445187	63445187	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chrX:63445187C>G	ENST00000396130.2	-	1	316	c.317G>C	c.(316-318)aGt>aCt	p.S106T	MTMR8_ENST00000453546.1_Missense_Mutation_p.S490T|ASB12_ENST00000362002.2_Missense_Mutation_p.S115T			Q8WXK4	ASB12_HUMAN	ankyrin repeat and SOCS box containing 12	106					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.0?(2)		endometrium(2)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						ATGGCCATGACTGACAGCAGT	0.527																																						uc011mou.1		NA																	2	Whole gene deletion(2)		ovary(1)|large_intestine(1)	ovary(2)|breast(2)	4						c.(1468-1470)AGT>ACT		myotubularin related protein 8							113.0	64.0	81.0					X																	63445187		2203	4300	6503	SO:0001583	missense	55613					nuclear envelope	protein tyrosine phosphatase activity	g.chrX:63445187C>G	AF403030	CCDS14378.1, CCDS14378.2	Xq11.1	2013-01-10	2011-01-25		ENSG00000198881	ENSG00000198881		"""Ankyrin repeat domain containing"""	19763	protein-coding gene	gene with protein product		300891	"""ankyrin repeat and SOCS box-containing 12"""			12076535	Standard	NM_130388		Approved	FLJ39577		Q8WXK4	OTTHUMG00000021705	ENST00000396130.2:c.317G>C	X.37:g.63445187C>G	ENSP00000379435:p.Ser106Thr					ASB12_uc004dvp.1_Missense_Mutation_p.S106T|ASB12_uc004dvq.1_Missense_Mutation_p.S115T|ASB12_uc004dvr.1_Missense_Mutation_p.S115T	p.S490T	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN			10	1537	-			306			Myotubularin phosphatase.		J3KP57|Q2M3D5|Q52LK4|Q6ISF9|Q8N8F5	Missense_Mutation	SNP	ENST00000396130.2	37	c.1469G>C		.	.	.	.	.	.	.	.	.	.	C	19.72	3.879972	0.72294	.	.	ENSG00000198881;ENSG00000198881;ENSG00000198881;ENSG00000102043	ENST00000362002;ENST00000396130;ENST00000361287;ENST00000453546	T;T;T	0.65732	-0.17;-0.17;-0.17	4.0	4.0	0.46444	Ankyrin repeat-containing domain (4);	0.088592	0.85682	D	0.000000	T	0.61999	0.2392	N	0.25060	0.705	0.26651	N	0.972105	D;D	0.59767	0.986;0.986	P;P	0.61800	0.894;0.849	T	0.55127	-0.8189	10	0.23302	T	0.38	-8.8115	14.2368	0.65932	0.0:1.0:0.0:0.0	.	490;106	B4DQL0;Q8WXK4	.;ASB12_HUMAN	T	115;106;115;490	ENSP00000355195:S115T;ENSP00000379435:S106T;ENSP00000394003:S490T	ENSP00000354626:S115T	S	-	2	0	ASB12;MTMR8	63361912	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.243000	0.58721	1.986000	0.57962	0.468000	0.43344	AGT		0.527	ASB12-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				7	5	0	0	0	0	7	5				
PHKA1	5255	broad.mit.edu	37	X	71887231	71887231	+	Silent	SNP	G	G	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chrX:71887231G>A	ENST00000373542.4	-	7	870	c.711C>T	c.(709-711)caC>caT	p.H237H	PHKA1_ENST00000339490.3_Silent_p.H237H|PHKA1_ENST00000373545.3_Silent_p.H237H|PHKA1_ENST00000373539.3_Silent_p.H237H|PHKA1_ENST00000541944.1_Silent_p.H237H	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	237					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					TTACCTGGCAGTGCTGTACTT	0.423																																						uc004eax.3		NA																	0				ovary(3)|skin(1)	4						c.(709-711)CAC>CAT		phosphorylase kinase, alpha 1 (muscle) isoform							79.0	62.0	68.0					X																	71887231		2203	4300	6503	SO:0001819	synonymous_variant	5255				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:71887231G>A		CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.711C>T	X.37:g.71887231G>A						PHKA1_uc004eay.3_Silent_p.H237H|PHKA1_uc011mqi.1_Silent_p.H237H	p.H237H	NM_002637	NP_002628	P46020	KPB1_HUMAN			7	1012	-	Renal(35;0.156)		237					B7ZL05|B7ZL07|Q2M3D7	Silent	SNP	ENST00000373542.4	37	c.711C>T	CCDS14421.1																																																																																				0.423	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1			18	7	0	0	0	0	18	7				
IL1RAPL2	26280	broad.mit.edu	37	X	104512216	104512216	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chrX:104512216A>C	ENST00000372582.1	+	5	1445	c.689A>C	c.(688-690)aAa>aCa	p.K230T	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.K230T	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	230	Ig-like C2-type 2.				central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ACTGAATTGAAAGTTACAGGT	0.333																																						uc004elz.1		NA																	0				breast(2)|ovary(1)	3						c.(688-690)AAA>ACA		interleukin 1 receptor accessory protein-like 2							59.0	54.0	56.0					X																	104512216		2203	4300	6503	SO:0001583	missense	26280				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	g.chrX:104512216A>C	AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.689A>C	X.37:g.104512216A>C	ENSP00000361663:p.Lys230Thr						p.K230T	NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN			5	1445	+			230			Ig-like C2-type 2.|Extracellular (Potential).		Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	37	c.689A>C	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	A	5.561	0.288407	0.10513	.	.	ENSG00000189108	ENST00000372582;ENST00000344799	T;T	0.10668	2.85;2.85	5.55	5.55	0.83447	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000003	T	0.10766	0.0263	N	0.19112	0.55	0.80722	D	1	P	0.47409	0.895	P	0.50049	0.629	T	0.20907	-1.0261	10	0.08381	T	0.77	.	13.8332	0.63393	1.0:0.0:0.0:0.0	.	230	Q9NP60	IRPL2_HUMAN	T	230	ENSP00000361663:K230T;ENSP00000344976:K230T	ENSP00000344976:K230T	K	+	2	0	IL1RAPL2	104398872	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.446000	0.60014	1.863000	0.54032	0.417000	0.27973	AAA		0.333	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		25	10	0	0	0	0	25	10				
COL4A6	1288	broad.mit.edu	37	X	107553986	107553986	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chrX:107553986C>T	ENST00000372216.4	-	3	239	c.139G>A	c.(139-141)Gga>Aga	p.G47R	COL4A6_ENST00000461897.1_5'UTR|COL4A6_ENST00000334504.7_Missense_Mutation_p.G46R|COL4A6_ENST00000394872.2_Missense_Mutation_p.G46R|COL4A6_ENST00000545689.1_Missense_Mutation_p.G46R|COL4A6_ENST00000538570.1_Missense_Mutation_p.G46R	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	47	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						ACTCTCGCTCCTTTCTCAGGA	0.383									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	uc004enw.3		NA																	0				ovary(6)|urinary_tract(1)|large_intestine(1)	8						c.(139-141)GGA>AGA		type IV alpha 6 collagen isoform A precursor							110.0	102.0	105.0					X																	107553986		2203	4300	6503	SO:0001583	missense	1288	Alport_syndrome_with_Diffuse_Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107553986C>T	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.139G>A	X.37:g.107553986C>T	ENSP00000361290:p.Gly47Arg					COL4A6_uc004env.3_Missense_Mutation_p.G46R|COL4A6_uc011msn.1_Missense_Mutation_p.G46R|COL4A6_uc010npk.2_Missense_Mutation_p.G46R|COL4A6_uc004enx.2_RNA|COL4A6_uc004eny.2_RNA	p.G47R	NM_001847	NP_001838	Q14031	CO4A6_HUMAN			3	242	-			47			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	c.139G>A	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.159494	0.38119	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.99353	-5.77;-5.77;-5.77;-5.77;-5.77	5.12	5.12	0.69794	.	0.000000	0.35040	N	0.003488	D	0.99674	0.9878	H	0.98133	4.155	0.37341	D	0.910382	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.97828	1.0261	10	0.87932	D	0	.	16.8651	0.86027	0.0:1.0:0.0:0.0	.	46;46;47;46	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	R	47;46;46;46;46;46	ENSP00000361290:G47R;ENSP00000334733:G46R;ENSP00000378340:G46R;ENSP00000443707:G46R;ENSP00000445236:G46R	ENSP00000334733:G46R	G	-	1	0	COL4A6	107440642	1.000000	0.71417	0.991000	0.47740	0.933000	0.57130	4.519000	0.60517	2.445000	0.82738	0.513000	0.50165	GGA		0.383	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			41	7	0	0	0	0	41	7				
MAST2	23139	broad.mit.edu	37	1	46295227	46295228	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr1:46295227_46295228delTC	ENST00000361297.2	+	3	725_726	c.442_443delTC	c.(442-444)tctfs	p.S148fs	MAST2_ENST00000372009.2_Frame_Shift_Del_p.S148fs	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CCTTGGACAGTCTGCACCTTCT	0.446																																						uc001cov.2		NA																	0				ovary(5)|lung(3)|stomach(2)|breast(1)	11						c.(442-444)TCTfs		microtubule associated serine/threonine kinase																																				SO:0001589	frameshift_variant	23139				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	g.chr1:46295227_46295228delTC	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.442_443delTC	1.37:g.46295227_46295228delTC	ENSP00000354671:p.Ser148fs					MAST2_uc001cow.2_Frame_Shift_Del_p.S148fs	p.S148fs	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN			3	725_726	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)		148						Frame_Shift_Del	DEL	ENST00000361297.2	37	c.442_443delTC	CCDS41326.1																																																																																				0.446	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		39	32	NA	NA	NA	NA	39	32	---	---	---	---
KIAA0907	22889	broad.mit.edu	37	1	155887376	155887387	+	In_Frame_Del	DEL	GGGGCTGGGGCT	GGGGCTGGGGCT	-			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr1:155887376_155887387delGGGGCTGGGGCT	ENST00000368321.3	-	11	1366_1377	c.1343_1354delAGCCCCAGCCCC	c.(1342-1356)cagccccagccccca>cca	p.QPQP448del	SNORA42_ENST00000384744.1_RNA|KIAA0907_ENST00000368320.3_In_Frame_Del_p.QPQP448del	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	448	Pro-rich.						RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			CTTGGGAGTGggggctggggctggggctgggg	0.552																																						uc001fmi.1		NA																	0					0						c.(1342-1356)CAGCCCCAGCCCCCA>CCA		hypothetical protein LOC22889																																				SO:0001651	inframe_deletion	22889							g.chr1:155887376_155887387delGGGGCTGGGGCT	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1343_1354delAGCCCCAGCCCC	1.37:g.155887376_155887387delGGGGCTGGGGCT	ENSP00000357304:p.Gln448_Pro451del					KIAA0907_uc001fmj.1_In_Frame_Del_p.QPQP448del|KIAA0907_uc009wrk.1_In_Frame_Del_p.QPQP305del|KIAA0907_uc009wrl.1_RNA	p.QPQP448del	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		11	1367_1378	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		448_451			Pro-rich.		O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	In_Frame_Del	DEL	ENST00000368321.3	37	c.1343_1354delAGCCCCAGCCCC	CCDS30885.1																																																																																				0.552	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		14	75	NA	NA	NA	NA	14	75	---	---	---	---
CDH1	999	broad.mit.edu	37	16	68847250	68847255	+	In_Frame_Del	DEL	TCGTAA	TCGTAA	-	rs141864044|rs148080550	byFrequency	TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr16:68847250_68847255delTCGTAA	ENST00000261769.5	+	9	1363_1368	c.1172_1177delTCGTAA	c.(1171-1179)gtcgtaatc>gtc	p.VI392del	CDH1_ENST00000422392.2_Intron|RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	392	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.Y380_K440del(2)|p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GAGGCTAACGTCGTAATCACCACACT	0.495			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													uc002ewg.1		NA	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	Mis|N|F|S	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""			E		gastric	lobular breast|gastric		3	Deletion - In frame(2)|Unknown(1)	p.Y380_K440del(5)	breast(2)|stomach(1)	breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243						c.(1171-1179)GTCGTAATC>GTC		cadherin 1, type 1 preproprotein																																				SO:0001651	inframe_deletion	999	Hereditary_Diffuse_Gastric_Cancer	Familial Cancer Database	HDGC	adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	g.chr16:68847250_68847255delTCGTAA	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.1172_1177delTCGTAA	16.37:g.68847250_68847255delTCGTAA	ENSP00000261769:p.Val392_Ile393del					CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Intron	p.VI392del	NM_004360	NP_004351	P12830	CADH1_HUMAN		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)	9	1296_1301	+		all_neural(199;0.0189)|Ovarian(137;0.0563)	392_393			Cadherin 3.|Extracellular (Potential).		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	In_Frame_Del	DEL	ENST00000261769.5	37	c.1172_1177delTCGTAA	CCDS10869.1																																																																																				0.495	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360		16	64	NA	NA	NA	NA	16	64	---	---	---	---
CHD3	1107	broad.mit.edu	37	17	7797825	7797826	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr17:7797825_7797826insA	ENST00000330494.7	+	8	1318_1319	c.1168_1169insA	c.(1168-1170)gaafs	p.E390fs	CHD3_ENST00000358181.4_Frame_Shift_Ins_p.E390fs|CHD3_ENST00000380358.4_Frame_Shift_Ins_p.E449fs	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	390					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E390*(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GCAGGGTGGGGAAATTATTCTG	0.589																																						uc002gje.2		NA																	1	Substitution - Nonsense(1)		skin(1)	breast(1)	1						c.(1168-1170)GAAfs		chromodomain helicase DNA binding protein 3																																				SO:0001589	frameshift_variant	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7797825_7797826insA	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.1171dupA	17.37:g.7797828_7797828dupA	ENSP00000332628:p.Glu390fs					CHD3_uc002gjd.2_Frame_Shift_Ins_p.E449fs|CHD3_uc002gjf.2_Frame_Shift_Ins_p.E390fs|CHD3_uc002gjg.1_Frame_Shift_Ins_p.E218fs	p.E390fs	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN			8	1318_1319	+		Prostate(122;0.202)	390			PHD-type 1.		D3DTQ9|E9PG89|Q9Y4I0	Frame_Shift_Ins	INS	ENST00000330494.7	37	c.1168_1169insA	CCDS32554.1																																																																																				0.589	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		30	60	NA	NA	NA	NA	30	60	---	---	---	---
TMEM200C	645369	broad.mit.edu	37	18	5890315	5890324	+	Frame_Shift_Del	DEL	GGTGGCTCCT	GGTGGCTCCT	-	rs548885837	byFrequency	TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr18:5890315_5890324delGGTGGCTCCT	ENST00000581347.2	-	3	2384_2393	c.1739_1748delAGGAGCCACC	c.(1738-1749)caggagccacccfs	p.QEPP580fs	TMEM200C_ENST00000383490.2_Frame_Shift_Del_p.QEPP580fs|RP11-945C19.4_ENST00000580845.1_RNA|RP11-945C19.4_ENST00000577694.1_RNA|RP11-945C19.4_ENST00000582939.1_RNA			A6NKL6	T200C_HUMAN	transmembrane protein 200C	580						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						CTCGGCCGTGGGTGGCTCCTGGCTGGCACC	0.6																																						uc002kmx.1		NA																	0					0						c.(1738-1749)CAGGAGCCACCCfs		transmembrane protein 200C																																				SO:0001589	frameshift_variant	645369					integral to membrane		g.chr18:5890315_5890324delGGTGGCTCCT		CCDS45825.1	18p11.31	2009-09-08			ENSG00000206432	ENSG00000206432			37208	protein-coding gene	gene with protein product						15722956	Standard	NM_001080209		Approved	TTMA	uc002kmx.1	A6NKL6		ENST00000581347.2:c.1739_1748delAGGAGCCACC	18.37:g.5890315_5890324delGGTGGCTCCT	ENSP00000463375:p.Gln580fs						p.Q580fs	NM_001080209	NP_001073678	A6NKL6	T200C_HUMAN			1	1780_1789	-			580_583						Frame_Shift_Del	DEL	ENST00000581347.2	37	c.1739_1748delAGGAGCCACC	CCDS45825.1																																																																																				0.600	TMEM200C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441917.4	NM_001080209		8	85	NA	NA	NA	NA	8	85	---	---	---	---
NOTCH3	4854	broad.mit.edu	37	19	15296203	15296204	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr19:15296203_15296204delCA	ENST00000263388.2	-	14	2235_2236	c.2160_2161delTG	c.(2158-2163)tgtgagfs	p.CE720fs		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	720	EGF-like 18. {ECO:0000255|PROSITE- ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CAGCCAGGCTCACACACACAGC	0.688																																						uc002nan.2		NA																	0				lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21						c.(2158-2163)TGTGAGfs		Notch homolog 3 precursor																																				SO:0001589	frameshift_variant	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15296203_15296204delCA	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.2160_2161delTG	19.37:g.15296211_15296212delCA	ENSP00000263388:p.Cys720fs					NOTCH3_uc002nao.1_Frame_Shift_Del_p.C720fs	p.C720fs	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		14	2236_2237	-			720_721			Extracellular (Potential).|EGF-like 18.		Q9UEB3|Q9UPL3|Q9Y6L8	Frame_Shift_Del	DEL	ENST00000263388.2	37	c.2160_2161delTG	CCDS12326.1																																																																																				0.688	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		11	14	NA	NA	NA	NA	11	14	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187532702	187532705	+	Frame_Shift_Del	DEL	CAAA	CAAA	-			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr4:187532702_187532705delCAAA	ENST00000441802.2	-	14	9897_9900	c.9688_9691delTTTG	c.(9688-9693)tttgagfs	p.FE3230fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3230	Cadherin 29. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F3230S(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCACGGTACTCAAACACAGGGGGG	0.471										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	1	Substitution - Missense(1)		prostate(1)	ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(9688-9693)TTTGAGfs		FAT tumor suppressor 1 precursor																																				SO:0001589	frameshift_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187532702_187532705delCAAA	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.9688_9691delTTTG	4.37:g.187532702_187532705delCAAA	ENSP00000406229:p.Phe3230fs	HNSCC(5;0.00058)					p.F3230fs	NM_005245	NP_005236	Q14517	FAT1_HUMAN			14	9876_9879	-			3230_3231			Extracellular (Potential).|Cadherin 30.			Frame_Shift_Del	DEL	ENST00000441802.2	37	c.9688_9691delTTTG	CCDS47177.1																																																																																				0.471	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		22	15	NA	NA	NA	NA	22	15	---	---	---	---
DMD	1756	broad.mit.edu	37	X	31227736	31227736	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chrX:31227736delG	ENST00000357033.4	-	65	9648	c.9442delC	c.(9442-9444)ctgfs	p.L3148fs	DMD_ENST00000378707.3_Frame_Shift_Del_p.L688fs|DMD_ENST00000359836.1_Frame_Shift_Del_p.L688fs|DMD_ENST00000361471.4_Frame_Shift_Del_p.L80fs|DMD_ENST00000378702.4_Frame_Shift_Del_p.L80fs|DMD_ENST00000378723.3_Frame_Shift_Del_p.L80fs|DMD_ENST00000378677.2_Frame_Shift_Del_p.L3144fs|DMD_ENST00000343523.2_Frame_Shift_Del_p.L688fs|DMD_ENST00000378680.2_Frame_Shift_Del_p.L80fs|DMD_ENST00000541735.1_Frame_Shift_Del_p.L688fs|DMD_ENST00000474231.1_Frame_Shift_Del_p.L688fs	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	3148	Interaction with SYNM. {ECO:0000250}.				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)			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)				ATAATCTGCAGGATATCCATG	0.448																																						uc004dda.1		NA																	0				ovary(3)|pancreas(2)|large_intestine(1)	6						c.(9442-9444)CTGfs		dystrophin Dp427m isoform							133.0	106.0	115.0					X																	31227736		2202	4300	6502	SO:0001589	frameshift_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:31227736delG	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.9442delC	X.37:g.31227736delG	ENSP00000354923:p.Leu3148fs					DMD_uc004dcq.1_Frame_Shift_Del_p.L419fs|DMD_uc004dcr.1_Frame_Shift_Del_p.L688fs|DMD_uc004dcs.1_Frame_Shift_Del_p.L688fs|DMD_uc004dct.1_Frame_Shift_Del_p.L688fs|DMD_uc004dcu.1_Frame_Shift_Del_p.L688fs|DMD_uc004dcv.1_Frame_Shift_Del_p.L688fs|DMD_uc004dcw.2_Frame_Shift_Del_p.L1804fs|DMD_uc004dcx.2_Frame_Shift_Del_p.L1807fs|DMD_uc004dcz.2_Frame_Shift_Del_p.L3025fs|DMD_uc004dcy.1_Frame_Shift_Del_p.L3144fs|DMD_uc004ddb.1_Frame_Shift_Del_p.L3140fs|DMD_uc004dcm.1_Frame_Shift_Del_p.L80fs|DMD_uc004dcn.1_Frame_Shift_Del_p.L80fs|DMD_uc004dco.1_Frame_Shift_Del_p.L80fs|DMD_uc004dcp.1_Frame_Shift_Del_p.L80fs|DMD_uc011mkb.1_Frame_Shift_Del_p.L80fs|DMD_uc010ngm.2_Frame_Shift_Del_p.L80fs	p.L3148fs	NM_004006	NP_003997	P11532	DMD_HUMAN			65	9686	-		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)	3148			Interaction with SYNM (By similarity).		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Frame_Shift_Del	DEL	ENST00000357033.4	37	c.9442delC	CCDS14233.1																																																																																				0.448	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		21	11	NA	NA	NA	NA	21	11	---	---	---	---
