#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
AGRN	375790	broad.mit.edu	37	1	979269	979269	+	Missense_Mutation	SNP	G	G	T	rs140789461		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:979269G>T	ENST00000379370.2	+	10	1915	c.1865G>T	c.(1864-1866)cGg>cTg	p.R622L		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	622	Kazal-like 7. {ECO:0000255|PROSITE- ProRule:PRU00798}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GTGTGTCCCCGGTGTGAGCAC	0.682																																						uc001ack.1		NA																	0				central_nervous_system(2)|breast(1)	3						c.(1864-1866)CGG>CTG		agrin precursor							26.0	26.0	26.0					1																	979269		2191	4277	6468	SO:0001583	missense	375790				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	g.chr1:979269G>T	XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"""Proteoglycans / Extracellular Matrix : Other"""	329	protein-coding gene	gene with protein product	"""agrin proteoglycan"""	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.1865G>T	1.37:g.979269G>T	ENSP00000368678:p.Arg622Leu						p.R622L	NM_198576	NP_940978	O00468	AGRIN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)	10	1915	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	622			Kazal-like 7.		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Missense_Mutation	SNP	ENST00000379370.2	37	c.1865G>T	CCDS30551.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.033084	0.54896	.	.	ENSG00000188157	ENST00000379370	T	0.27890	1.64	4.5	4.5	0.54988	Proteinase inhibitor I1, Kazal (1);Follistatin-like, N-terminal (1);	0.238055	0.29040	N	0.013335	T	0.41050	0.1142	L	0.35644	1.08	0.40937	D	0.984432	D	0.55605	0.972	D	0.63488	0.915	T	0.15009	-1.0452	10	0.31617	T	0.26	-10.5839	13.0274	0.58823	0.0:0.1621:0.8379:0.0	.	622	O00468	AGRIN_HUMAN	L	622	ENSP00000368678:R622L	ENSP00000368678:R622L	R	+	2	0	AGRN	969132	0.807000	0.29009	0.998000	0.56505	0.808000	0.45660	0.975000	0.29449	2.045000	0.60652	0.561000	0.74099	CGG		0.682	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		6	51	1	0	3.6e-05	4.07e-05	6	51				
TAS1R3	83756	broad.mit.edu	37	1	1267466	1267466	+	Silent	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:1267466C>A	ENST00000339381.5	+	3	587	c.555C>A	c.(553-555)cgC>cgA	p.R185R		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	185					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)	p.R185R(1)		kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)		CCTTCTTCCGCACCGTGCCCA	0.682																																						uc010nyk.1		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)		0						c.(553-555)CGC>CGA		taste receptor, type 1, member 3 precursor	Aspartame(DB00168)						33.0	34.0	33.0					1																	1267466		2196	4281	6477	SO:0001819	synonymous_variant	83756				detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:1267466C>A	AC026283	CCDS30556.1	1p36	2012-08-22			ENSG00000169962	ENSG00000169962		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	15661	protein-coding gene	gene with protein product		605865				11319557	Standard	XM_006710939		Approved	T1R3	uc010nyk.2	Q7RTX0	OTTHUMG00000003071	ENST00000339381.5:c.555C>A	1.37:g.1267466C>A							p.R185R	NM_152228	NP_689414	Q7RTX0	TS1R3_HUMAN		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	3	555	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	185			Extracellular (Potential).		Q5TA49|Q8NGW9	Silent	SNP	ENST00000339381.5	37	c.555C>A	CCDS30556.1																																																																																				0.682	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008493.1			35	70	1	0	7.04e-22	9.98e-22	35	70				
SPEN	23013	broad.mit.edu	37	1	16255029	16255029	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:16255029G>A	ENST00000375759.3	+	11	2498	c.2294G>A	c.(2293-2295)aGc>aAc	p.S765N		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	765	Arg-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CGGAGTGGAAGCTGTAGCTCA	0.498																																						uc001axk.1		NA																	0				ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(2293-2295)AGC>AAC		spen homolog, transcriptional regulator							62.0	65.0	64.0					1																	16255029		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16255029G>A		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.2294G>A	1.37:g.16255029G>A	ENSP00000364912:p.Ser765Asn					SPEN_uc010obp.1_Missense_Mutation_p.S724N	p.S765N	NM_015001	NP_055816	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	2498	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	765			Arg-rich.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.2294G>A	CCDS164.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.153922	0.57259	.	.	ENSG00000065526	ENST00000375759	T	0.12672	2.66	4.84	4.84	0.62591	.	.	.	.	.	T	0.28699	0.0711	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.02098	-1.1214	9	0.54805	T	0.06	-15.6304	18.1431	0.89647	0.0:0.0:1.0:0.0	.	765	Q96T58	MINT_HUMAN	N	765	ENSP00000364912:S765N	ENSP00000364912:S765N	S	+	2	0	SPEN	16127616	1.000000	0.71417	0.996000	0.52242	0.652000	0.38707	9.202000	0.95026	2.514000	0.84764	0.563000	0.77884	AGC		0.498	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		21	93	0	0	0	0	21	93				
RUNX3	864	broad.mit.edu	37	1	25254161	25254161	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:25254161C>A	ENST00000308873.6	-	2	351	c.343G>T	c.(343-345)Gag>Tag	p.E115*	RUNX3_ENST00000399916.1_Nonsense_Mutation_p.E129*|RUNX3_ENST00000540420.1_Nonsense_Mutation_p.E22*|RUNX3_ENST00000496967.1_5'UTR|RUNX3_ENST00000338888.3_Nonsense_Mutation_p.E129*	NM_004350.2	NP_004341.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	115	Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				axon guidance (GO:0007411)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|hair follicle morphogenesis (GO:0031069)|interferon-gamma production (GO:0032609)|negative regulation of cell cycle (GO:0045786)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peripheral nervous system neuron development (GO:0048935)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		GAGTAGTTCTCGTCATTGCCT	0.627																																						uc001bjq.2		NA																	0					0						c.(343-345)GAG>TAG		runt-related transcription factor 3 isoform 2							153.0	136.0	142.0					1																	25254161		2203	4300	6503	SO:0001587	stop_gained	864				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:25254161C>A	BC013362	CCDS257.1, CCDS30633.1	1p36	2008-02-05			ENSG00000020633	ENSG00000020633			10473	protein-coding gene	gene with protein product		600210		CBFA3		7835892	Standard	NM_001031680		Approved	AML2, PEBP2A3	uc001bjq.3	Q13761	OTTHUMG00000003316	ENST00000308873.6:c.343G>T	1.37:g.25254161C>A	ENSP00000308051:p.Glu115*					RUNX3_uc010oen.1_Nonsense_Mutation_p.E115*|RUNX3_uc009vrj.2_Nonsense_Mutation_p.E129*|RUNX3_uc001bjr.2_Nonsense_Mutation_p.E129*	p.E115*	NM_004350	NP_004341	Q13761	RUNX3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)	2	754	-		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	115			Runt.		B1AJV5|Q12969|Q13760	Nonsense_Mutation	SNP	ENST00000308873.6	37	c.343G>T	CCDS257.1	.	.	.	.	.	.	.	.	.	.	C	38	6.746673	0.97809	.	.	ENSG00000020633	ENST00000399916;ENST00000308873;ENST00000338888;ENST00000540420;ENST00000428150	.	.	.	5.38	5.38	0.77491	.	0.050927	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-34.264	18.7619	0.91855	0.0:1.0:0.0:0.0	.	.	.	.	X	129;115;129;22;115	.	ENSP00000308051:E115X	E	-	1	0	RUNX3	25126748	1.000000	0.71417	0.954000	0.39281	0.680000	0.39746	7.487000	0.81328	2.514000	0.84764	0.655000	0.94253	GAG		0.627	RUNX3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009284.1	NM_004350		78	203	1	0	1.41e-23	2.02e-23	78	203				
YTHDF2	51441	broad.mit.edu	37	1	29095450	29095450	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:29095450G>A	ENST00000373812.3	+	5	2088	c.1726G>A	c.(1726-1728)Ggt>Agt	p.G576S	YTHDF2_ENST00000478283.1_3'UTR|YTHDF2_ENST00000542507.1_Missense_Mutation_p.G576S|YTHDF2_ENST00000541996.1_Missense_Mutation_p.G526S	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	576	Interaction with m6A-containing mRNAs.				humoral immune response (GO:0006959)|regulation of mRNA stability (GO:0043488)	cytoplasmic mRNA processing body (GO:0000932)	N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GGAACGTCAAGGTCGTGGGAA	0.343																																						uc001brc.2		NA																	0				ovary(1)|skin(1)	2						c.(1726-1728)GGT>AGT		high glucose-regulated protein 8							64.0	59.0	60.0					1																	29095450		1828	4077	5905	SO:0001583	missense	51441				humoral immune response			g.chr1:29095450G>A	AF155095	CCDS41296.1, CCDS53287.1	1p35	2008-02-05	2004-11-16		ENSG00000198492	ENSG00000198492			31675	protein-coding gene	gene with protein product		610640	"""YTH domain family 2"""			10508479	Standard	NM_016258		Approved	HGRG8, NY-REN-2	uc021okf.1	Q9Y5A9	OTTHUMG00000003648	ENST00000373812.3:c.1726G>A	1.37:g.29095450G>A	ENSP00000362918:p.Gly576Ser					YTHDF2_uc001brd.2_Missense_Mutation_p.G573S|YTHDF2_uc010ofx.1_Missense_Mutation_p.G526S|YTHDF2_uc001bre.2_Missense_Mutation_p.G526S	p.G576S	NM_016258	NP_057342	Q9Y5A9	YTHD2_HUMAN		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)	5	2223	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	576					A6NKG4|A8K966|B4E1G7|D3DPM8|Q5VSZ9|Q8TDH0|Q9BUJ5	Missense_Mutation	SNP	ENST00000373812.3	37	c.1726G>A	CCDS41296.1	.	.	.	.	.	.	.	.	.	.	G	9.683	1.149865	0.21371	.	.	ENSG00000198492	ENST00000542507;ENST00000373812;ENST00000541996	T;T;T	0.21932	1.98;1.98;1.98	5.61	5.61	0.85477	.	0.808128	0.11665	N	0.541459	T	0.09686	0.0238	N	0.02011	-0.69	0.53688	D	0.999978	B	0.02656	0.0	B	0.08055	0.003	T	0.24368	-1.0162	10	0.09843	T	0.71	.	16.5518	0.84474	0.0:0.0:1.0:0.0	.	576	Q9Y5A9	YTHD2_HUMAN	S	576;576;526	ENSP00000444660:G576S;ENSP00000362918:G576S;ENSP00000439394:G526S	ENSP00000362918:G576S	G	+	1	0	YTHDF2	28968037	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.184000	0.72008	2.634000	0.89283	0.561000	0.74099	GGT		0.343	YTHDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010335.1	NM_016258		8	63	0	0	0	0	8	63				
PHC2	1912	broad.mit.edu	37	1	33832992	33832992	+	Missense_Mutation	SNP	G	G	A	rs201647557		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:33832992G>A	ENST00000257118.5	-	6	754	c.701C>T	c.(700-702)gCg>gTg	p.A234V	PHC2_ENST00000419414.2_Missense_Mutation_p.A234V|PHC2_ENST00000373416.1_5'UTR|PHC2_ENST00000431992.1_Missense_Mutation_p.A205V	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	234					multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGCTGCTGCCGCTGGTGTCTG	0.622											OREG0013344	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0	0.0014	5008	,	,		16303	0.0		0.0	False		,,,				2504	0.0					uc001bxg.1		NA																	0				ovary(1)	1						c.(700-702)GCG>GTG		polyhomeotic-like 2 isoform a							74.0	97.0	89.0					1																	33832992		2178	4283	6461	SO:0001583	missense	1912				multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding	g.chr1:33832992G>A	AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"""Sterile alpha motif (SAM) domain containing"""	3183	protein-coding gene	gene with protein product		602979	"""early development regulator 2 (homolog of polyhomeotic 2)"", ""polyhomeotic-like 2 (Drosophila)"""	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.701C>T	1.37:g.33832992G>A	ENSP00000257118:p.Ala234Val		OREG0013344	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	843	PHC2_uc001bxh.1_Missense_Mutation_p.A205V|PHC2_uc009vuh.1_Missense_Mutation_p.A234V|PHC2_uc001bxi.1_Missense_Mutation_p.A234V	p.A234V	NM_198040	NP_932157	Q8IXK0	PHC2_HUMAN			6	755	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	234					A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Missense_Mutation	SNP	ENST00000257118.5	37	c.701C>T	CCDS378.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	10.28	1.307934	0.23821	.	.	ENSG00000134686	ENST00000431992;ENST00000257118;ENST00000419414	T;T;T	0.30981	2.05;1.51;1.94	5.74	5.74	0.90152	.	0.264008	0.39083	N	0.001480	T	0.21550	0.0519	L	0.28274	0.84	0.80722	D	1	B;B;B	0.28258	0.046;0.066;0.205	B;B;B	0.18871	0.004;0.023;0.023	T	0.04900	-1.0919	10	0.20519	T	0.43	-1.7214	15.4198	0.75003	0.0:0.0:1.0:0.0	.	234;205;234	A8KA40;B7ZLY0;Q8IXK0	.;.;PHC2_HUMAN	V	205;234;234	ENSP00000389436:A205V;ENSP00000257118:A234V;ENSP00000391440:A234V	ENSP00000257118:A234V	A	-	2	0	PHC2	33605579	0.980000	0.34600	0.997000	0.53966	0.940000	0.58332	4.888000	0.63164	2.702000	0.92279	0.655000	0.94253	GCG		0.622	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000011895.1	NM_198040		74	153	0	0	0	0	74	153				
DLGAP3	58512	broad.mit.edu	37	1	35350638	35350638	+	Silent	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:35350638G>C	ENST00000373347.1	-	8	2209	c.1941C>G	c.(1939-1941)acC>acG	p.T647T	DLGAP3_ENST00000235180.4_Silent_p.T647T			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	647					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				TCCTGTTCTCGGTGTCCGAAT	0.607																																						uc001byc.2		NA																	0				ovary(3)	3						c.(1939-1941)ACC>ACG		discs, large (Drosophila) homolog-associated							97.0	93.0	95.0					1																	35350638		2203	4300	6503	SO:0001819	synonymous_variant	58512				cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		g.chr1:35350638G>C	AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.1941C>G	1.37:g.35350638G>C							p.T647T	NM_001080418	NP_001073887	O95886	DLGP3_HUMAN			6	1941	-		Myeloproliferative disorder(586;0.0393)	647					Q5TDD5|Q9H3X7	Silent	SNP	ENST00000373347.1	37	c.1941C>G	CCDS30670.1																																																																																				0.607	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234		33	68	0	0	0	0	33	68				
CSF3R	1441	broad.mit.edu	37	1	36933736	36933736	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:36933736C>G	ENST00000373106.1	-	13	2210	c.1663G>C	c.(1663-1665)Ggg>Cgg	p.G555R	CSF3R_ENST00000338937.5_Missense_Mutation_p.G555R|CSF3R_ENST00000418048.2_Missense_Mutation_p.G555R|CSF3R_ENST00000373104.1_Missense_Mutation_p.G555R|CSF3R_ENST00000361632.4_Missense_Mutation_p.G555R|CSF3R_ENST00000331941.5_Missense_Mutation_p.G555R|CSF3R_ENST00000440588.2_Missense_Mutation_p.G555R|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000373103.1_Missense_Mutation_p.G555R	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	555	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GGGCTCTTCCCCAGCTCAGGG	0.592																																						uc001caw.1		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(1663-1665)GGG>CGG		colony stimulating factor 3 receptor isoform a	Filgrastim(DB00099)|Pegfilgrastim(DB00019)						64.0	65.0	65.0					1																	36933736		2203	4300	6503	SO:0001583	missense	1441				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr1:36933736C>G	M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"""CD molecules"", ""Fibronectin type III domain containing"""	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.1663G>C	1.37:g.36933736C>G	ENSP00000362198:p.Gly555Arg					CSF3R_uc001cat.1_Missense_Mutation_p.G118R|CSF3R_uc009vvc.1_Missense_Mutation_p.G84R|CSF3R_uc001cau.1_5'UTR|CSF3R_uc001cav.1_Missense_Mutation_p.G555R|CSF3R_uc001cax.1_Missense_Mutation_p.G555R|CSF3R_uc001cay.1_Missense_Mutation_p.G555R	p.G555R	NM_000760	NP_000751	Q99062	CSF3R_HUMAN			13	1841	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	555			Fibronectin type-III 5.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000373106.1	37	c.1663G>C	CCDS413.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.73|12.73	2.025625|2.025625	0.35701|0.35701	.|.	.|.	ENSG00000119535|ENSG00000119535	ENST00000373106;ENST00000373104;ENST00000373103;ENST00000361632;ENST00000331941;ENST00000418048;ENST00000338937;ENST00000440588|ENST00000464465	T;T;T;T;T;T;T;T|.	0.60920|.	0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15|.	5.39|5.39	4.48|4.48	0.54585|0.54585	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.098076|.	0.64402|.	D|.	0.000001|.	T|T	0.45736|0.45736	0.1357|0.1357	L|L	0.46741|0.46741	1.465|1.465	0.31738|0.31738	N|N	0.636199|0.636199	B;P;B;B;B;B|.	0.39094|.	0.4;0.659;0.347;0.4;0.118;0.114|.	B;B;B;B;B;B|.	0.36567|.	0.138;0.228;0.146;0.138;0.063;0.063|.	T|T	0.51458|0.51458	-0.8703|-0.8703	10|5	0.06625|.	T|.	0.88|.	-25.2753|-25.2753	7.0922|7.0922	0.25289|0.25289	0.0:0.7178:0.1902:0.0919|0.0:0.7178:0.1902:0.0919	.|.	555;555;555;555;555;555|.	Q1ZYL6;E1B6W6;Q99062-3;Q99062;Q99062-4;Q99062-2|.	.;.;.;CSF3R_HUMAN;.;.|.	R|C	555|106	ENSP00000362198:G555R;ENSP00000362196:G555R;ENSP00000362195:G555R;ENSP00000355406:G555R;ENSP00000332180:G555R;ENSP00000401588:G555R;ENSP00000345013:G555R;ENSP00000397568:G555R|.	ENSP00000332180:G555R|.	G|W	-|-	1|3	0|0	CSF3R|CSF3R	36706323|36706323	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	2.456000|2.456000	0.44997|0.44997	2.526000|2.526000	0.85167|0.85167	0.585000|0.585000	0.79938|0.79938	GGG|TGG		0.592	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2	NM_156039		42	82	0	0	0	0	42	82				
DMAP1	55929	broad.mit.edu	37	1	44685699	44685699	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:44685699G>A	ENST00000372289.2	+	9	1325	c.1062G>A	c.(1060-1062)ccG>ccA	p.P354P	DMAP1_ENST00000361745.6_Silent_p.P354P|DMAP1_ENST00000315913.5_Silent_p.P354P|DMAP1_ENST00000488433.1_3'UTR	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	354					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription factor import into nucleus (GO:0042993)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|RNA polymerase II repressing transcription factor binding (GO:0001103)|transcription corepressor activity (GO:0003714)			breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(166;0.155)					AGCTGAGCCCGACACCTACGG	0.622																																						uc001clq.1		NA																	0					0						c.(1060-1062)CCG>CCA		DNA methyltransferase 1 associated protein 1							20.0	22.0	21.0					1																	44685699		2203	4300	6503	SO:0001819	synonymous_variant	55929				DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex	DNA binding|protein binding	g.chr1:44685699G>A	AB037846	CCDS509.1	1p34	2009-07-13			ENSG00000178028	ENSG00000178028			18291	protein-coding gene	gene with protein product		605077				10888872, 10718198	Standard	XM_005271039		Approved	DNMAP1, FLJ11543, KIAA1425, DNMTAP1, EAF2, MEAF2, SWC4	uc001clq.1	Q9NPF5	OTTHUMG00000007577	ENST00000372289.2:c.1062G>A	1.37:g.44685699G>A						DMAP1_uc001clr.1_Silent_p.P354P|DMAP1_uc001cls.1_Silent_p.P354P|DMAP1_uc010oku.1_Silent_p.P344P	p.P354P	NM_001034024	NP_001029196	Q9NPF5	DMAP1_HUMAN			10	1142	+	Acute lymphoblastic leukemia(166;0.155)		354					A8K001|D3DPY8|Q0JSM4|Q5TG41|Q7Z3H7|Q9H0S8|Q9P2C2	Silent	SNP	ENST00000372289.2	37	c.1062G>A	CCDS509.1																																																																																				0.622	DMAP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020027.3	NM_019100		7	42	0	0	0	0	7	42				
TTC39A	22996	broad.mit.edu	37	1	51768088	51768088	+	Splice_Site	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:51768088C>A	ENST00000447632.2	-	11	988	c.940G>T	c.(940-942)Ggt>Tgt	p.G314C	TTC39A_ENST00000262676.5_Splice_Site_p.G310C|TTC39A_ENST00000413473.2_Splice_Site_p.G282C|TTC39A_ENST00000371750.5_Splice_Site_p.G279C|TTC39A_ENST00000262675.7_Splice_Site_p.G251C|TTC39A_ENST00000451380.1_Splice_Site_p.G278C|TTC39A_ENST00000371747.3_Splice_Site_p.G313C			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A	314								p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						AAGATGGCACCCTGCAATGAC	0.592																																						uc001csl.2		NA																	2	Whole gene deletion(2)		thyroid(1)|central_nervous_system(1)	skin(1)	1						c.(940-942)GGT>TGT		tetratricopeptide repeat domain 39A isoform 2							80.0	85.0	84.0					1																	51768088		1996	4180	6176	SO:0001630	splice_region_variant	22996						binding	g.chr1:51768088C>A	AB007921	CCDS44143.1, CCDS44144.1, CCDS72789.1, CCDS72790.1	1p32.3	2013-01-11	2008-06-23	2008-06-23	ENSG00000085831	ENSG00000085831		"""Tetratricopeptide (TTC) repeat domain containing"""	18657	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 34"""	C1orf34		9455484, 9461476	Standard	XM_005270643		Approved	KIAA0452, DEME-6	uc010onf.2	Q5SRH9	OTTHUMG00000008193	ENST00000447632.2:c.940-1G>T	1.37:g.51768088C>A						TTC39A_uc001csk.2_Missense_Mutation_p.G279C|TTC39A_uc010ond.1_Missense_Mutation_p.G251C|TTC39A_uc010one.1_Missense_Mutation_p.G278C|TTC39A_uc010onf.1_Missense_Mutation_p.G282C|TTC39A_uc001csn.2_Missense_Mutation_p.G313C|TTC39A_uc001cso.1_Missense_Mutation_p.G310C|TTC39A_uc009vyy.1_Missense_Mutation_p.G251C	p.G314C	NM_001080494	NP_001073963	Q5SRH9	TT39A_HUMAN			11	1045	-			314					B7Z782|E7EQY9|G3XAF8|O43417|O75040|Q5SRH5|Q5SRH6|Q5SRH7|Q5SRH8|Q5SRI0|Q5SRI1|Q5SRI2|Q5T7S1|Q6PIU8|Q9BT24	Missense_Mutation	SNP	ENST00000447632.2	37	c.940G>T		.	.	.	.	.	.	.	.	.	.	C	17.55	3.418164	0.62622	.	.	ENSG00000085831	ENST00000447632;ENST00000413473;ENST00000262675;ENST00000451380;ENST00000371750;ENST00000371747;ENST00000262676;ENST00000411642;ENST00000439482	T;T;T;T;T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58	4.67	4.67	0.58626	Tetratricopeptide-like helical (1);	0.094038	0.64402	D	0.000001	T	0.69682	0.3138	L	0.61036	1.89	0.80722	D	1	P;P;D;D;D;D;D	0.89917	0.937;0.949;1.0;1.0;1.0;0.988;1.0	P;P;D;D;D;P;D	0.91635	0.833;0.831;0.999;0.999;0.999;0.896;0.998	T	0.69183	-0.5212	10	0.42905	T	0.14	-11.4519	17.0715	0.86574	0.0:1.0:0.0:0.0	.	282;278;251;310;278;314;279	Q5SRH9-4;E7EQY9;D3DQ30;Q5SRH9-3;B7Z782;Q5SRH9;G3XAF8	.;.;.;.;.;TT39A_HUMAN;.	C	314;282;251;278;279;313;310;251;278	ENSP00000393952:G314C;ENSP00000406144:G282C;ENSP00000262675:G251C;ENSP00000397207:G278C;ENSP00000360815:G279C;ENSP00000360812:G313C;ENSP00000262676:G310C;ENSP00000408532:G251C;ENSP00000405803:G278C	ENSP00000262675:G251C	G	-	1	0	TTC39A	51540676	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	5.715000	0.68430	2.574000	0.86865	0.655000	0.94253	GGT		0.592	TTC39A-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000022434.2		Missense_Mutation	3	23	1	0	2.56e-06	2.97e-06	3	23				
DAB1	1600	broad.mit.edu	37	1	57528566	57528566	+	Missense_Mutation	SNP	T	T	A	rs148730065		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:57528566T>A	ENST00000371231.1	-	8	748	c.714A>T	c.(712-714)caA>caT	p.Q238H	DAB1_ENST00000371234.4_Missense_Mutation_p.Q238H|DAB1_ENST00000439789.2_Missense_Mutation_p.Q119H|DAB1_ENST00000414851.2_Missense_Mutation_p.Q203H|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371236.2_Missense_Mutation_p.Q238H|DAB1_ENST00000420954.2_Missense_Mutation_p.Q203H			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	238					adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CACTTACAGGTTGACTTTTTG	0.463																																						uc001cys.1		NA																	0				skin(2)|ovary(1)	3						c.(712-714)CAA>CAT		disabled homolog 1							228.0	187.0	201.0					1																	57528566		2203	4300	6503	SO:0001583	missense	1600				cell differentiation|nervous system development			g.chr1:57528566T>A	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"""disabled (Drosophila) homolog 1"", ""disabled homolog 1 (Drosophila)"", ""Dab, reelin signal transducer, homolog 1 (Drosophila)"", ""Dab reelin signal transducer 1"""			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.714A>T	1.37:g.57528566T>A	ENSP00000360275:p.Gln238His					DAB1_uc001cyt.1_Missense_Mutation_p.Q238H|DAB1_uc001cyq.1_Missense_Mutation_p.Q203H|DAB1_uc001cyr.1_Missense_Mutation_p.Q119H|DAB1_uc009vzw.1_Missense_Mutation_p.Q203H|DAB1_uc009vzx.1_Missense_Mutation_p.Q238H	p.Q238H	NM_021080	NP_066566	O75553	DAB1_HUMAN			11	1388	-			238					A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Missense_Mutation	SNP	ENST00000371231.1	37	c.714A>T		.	.	.	.	.	.	.	.	.	.	T	13.19	2.161719	0.38119	.	.	ENSG00000173406	ENST00000371236;ENST00000371233;ENST00000371234;ENST00000420954;ENST00000414851;ENST00000439789;ENST00000371231;ENST00000371232;ENST00000332102	T;T;T;T;T;T;T;T	0.66280	0.94;0.94;0.88;0.87;1.87;0.87;0.87;-0.2	5.43	4.29	0.51040	.	0.233267	0.44483	D	0.000441	T	0.44138	0.1279	N	0.19112	0.55	0.45946	D	0.998776	B;B;B;B;B	0.13594	0.003;0.003;0.001;0.006;0.008	B;B;B;B;B	0.14023	0.002;0.004;0.002;0.01;0.007	T	0.31668	-0.9935	10	0.21014	T	0.42	-10.3792	11.56	0.50772	0.0:0.079:0.0:0.921	.	203;238;238;119;203	O75553-4;O75553;O75553-6;O75553-3;O75553-5	.;DAB1_HUMAN;.;.;.	H	238;238;238;203;203;119;238;119;203	ENSP00000360280:Q238H;ENSP00000360278:Q238H;ENSP00000395296:Q203H;ENSP00000387581:Q203H;ENSP00000409328:Q119H;ENSP00000360275:Q238H;ENSP00000360276:Q119H;ENSP00000329120:Q203H	ENSP00000329120:Q203H	Q	-	3	2	DAB1	57301154	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.305000	0.43664	2.280000	0.76307	0.533000	0.62120	CAA		0.463	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080		24	90	0	0	0	0	24	90				
C1orf87	127795	broad.mit.edu	37	1	60463339	60463339	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:60463339C>G	ENST00000371201.3	-	11	1529	c.1422G>C	c.(1420-1422)tgG>tgC	p.W474C	C1orf87_ENST00000450089.2_Missense_Mutation_p.W245C|C1orf87_ENST00000395552.1_Missense_Mutation_p.W108C|C1orf87_ENST00000486478.1_5'UTR	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	474							calcium ion binding (GO:0005509)			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						ACCTGTCTATCCACGTCTCAC	0.468																																					NSCLC(75;811 1386 4923 13371 51772)	uc001czs.1		NA																	0				ovary(1)|breast(1)	2						c.(1420-1422)TGG>TGC		hypothetical protein LOC127795							141.0	136.0	137.0					1																	60463339		2203	4300	6503	SO:0001583	missense	127795						calcium ion binding	g.chr1:60463339C>G	AK124828	CCDS614.1	1p32.1	2014-04-03			ENSG00000162598	ENSG00000162598			28547	protein-coding gene	gene with protein product	"""carcinoma-related EF-hand protein"""					12477932	Standard	NM_152377		Approved	MGC34837, CREF	uc001czs.2	Q8N0U7	OTTHUMG00000008992	ENST00000371201.3:c.1422G>C	1.37:g.60463339C>G	ENSP00000360244:p.Trp474Cys					C1orf87_uc001czr.1_Missense_Mutation_p.W66C	p.W474C	NM_152377	NP_689590	Q8N0U7	CA087_HUMAN			11	1514	-			474					Q6ZU07|Q8IVS0	Missense_Mutation	SNP	ENST00000371201.3	37	c.1422G>C	CCDS614.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.456167	0.63401	.	.	ENSG00000162598	ENST00000371201;ENST00000395552	T;T	0.56103	1.32;0.48	5.64	5.64	0.86602	.	0.000000	0.48286	D	0.000186	T	0.71626	0.3362	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72218	-0.4357	10	0.87932	D	0	-7.535	18.635	0.91374	0.0:1.0:0.0:0.0	.	474	Q8N0U7	CA087_HUMAN	C	474;108	ENSP00000360244:W474C;ENSP00000378921:W108C	ENSP00000360244:W474C	W	-	3	0	C1orf87	60235927	1.000000	0.71417	0.998000	0.56505	0.689000	0.40095	4.320000	0.59203	2.937000	0.99478	0.650000	0.86243	TGG		0.468	C1orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024943.1	NM_152377		39	91	0	0	0	0	39	91				
IL12RB2	3595	broad.mit.edu	37	1	67861485	67861485	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:67861485A>G	ENST00000262345.1	+	16	2942	c.2302A>G	c.(2302-2304)Aag>Gag	p.K768E	IL12RB2_ENST00000544434.1_Missense_Mutation_p.K682E|IL12RB2_ENST00000541374.1_3'UTR|IL12RB2_ENST00000371000.1_3'UTR	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	768					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						GGATCTGTACAAGGTGCTGGA	0.582																																						uc001ddu.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2302-2304)AAG>GAG		interleukin 12 receptor, beta 2 precursor							96.0	94.0	95.0					1																	67861485		2203	4300	6503	SO:0001583	missense	3595				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	g.chr1:67861485A>G	U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.2302A>G	1.37:g.67861485A>G	ENSP00000262345:p.Lys768Glu					IL12RB2_uc010oqi.1_3'UTR|IL12RB2_uc010oqj.1_3'UTR|IL12RB2_uc010oqk.1_RNA|IL12RB2_uc010oql.1_Missense_Mutation_p.K682E|IL12RB2_uc010oqm.1_3'UTR|IL12RB2_uc010oqn.1_RNA	p.K768E	NM_001559	NP_001550	Q99665	I12R2_HUMAN			16	2942	+			768			Cytoplasmic (Potential).		B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Missense_Mutation	SNP	ENST00000262345.1	37	c.2302A>G	CCDS638.1	.	.	.	.	.	.	.	.	.	.	A	13.61	2.287305	0.40494	.	.	ENSG00000081985	ENST00000262345;ENST00000544434	T;T	0.51325	0.71;1.45	5.39	3.04	0.35103	.	0.482935	0.23461	N	0.047927	T	0.30135	0.0755	M	0.65975	2.015	0.80722	D	1	D;D	0.60575	0.988;0.976	P;P	0.53861	0.736;0.541	T	0.54873	-0.8228	10	0.05525	T	0.97	-15.141	5.1261	0.14886	0.7226:0.185:0.0924:0.0	.	682;768	F5H7L6;Q99665	.;I12R2_HUMAN	E	768;682	ENSP00000262345:K768E;ENSP00000442443:K682E	ENSP00000262345:K768E	K	+	1	0	IL12RB2	67634073	0.999000	0.42202	1.000000	0.80357	0.006000	0.05464	0.795000	0.26972	0.968000	0.38212	-0.466000	0.05196	AAG		0.582	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2	NM_001559		39	123	0	0	0	0	39	123				
SERBP1	26135	broad.mit.edu	37	1	67891881	67891881	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:67891881C>A	ENST00000370995.2	-	2	486	c.401G>T	c.(400-402)cGt>cTt	p.R134L	SERBP1_ENST00000361219.6_Missense_Mutation_p.R134L|SERBP1_ENST00000484880.1_5'Flank|SERBP1_ENST00000370990.5_Missense_Mutation_p.R134L|SERBP1_ENST00000370994.4_Missense_Mutation_p.R134L			Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	134					regulation of apoptotic process (GO:0042981)|regulation of mRNA stability (GO:0043488)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						TCTTCGTTCACGAGGTGGTCG	0.423																																						uc001ddv.2		NA																	0				skin(1)	1						c.(400-402)CGT>CTT		SERPINE1 mRNA binding protein 1 isoform 1							190.0	186.0	187.0					1																	67891881		2203	4300	6503	SO:0001583	missense	26135				regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding	g.chr1:67891881C>A	AF151813	CCDS639.1, CCDS30746.1, CCDS30747.1, CCDS30748.1	1p31	2009-12-17			ENSG00000142864	ENSG00000142864			17860	protein-coding gene	gene with protein product		607378				11001948, 10810093, 18440126, 17698176	Standard	NM_001018067		Approved	PAI-RBP1, DKFZP564M2423, CGI-55, HABP4L, PAIRBP1, CHD3IP	uc001ddv.3	Q8NC51	OTTHUMG00000009372	ENST00000370995.2:c.401G>T	1.37:g.67891881C>A	ENSP00000360034:p.Arg134Leu					SERBP1_uc001ddx.2_Missense_Mutation_p.R134L|SERBP1_uc001ddy.2_Missense_Mutation_p.R134L|SERBP1_uc001ddw.2_Missense_Mutation_p.R134L	p.R134L	NM_001018067	NP_001018077	Q8NC51	PAIRB_HUMAN			2	541	-			134					Q5VU19|Q5VU20|Q5VU22|Q8WUH0|Q96SE2|Q9BTY3|Q9BUM4|Q9Y367|Q9Y4S3	Missense_Mutation	SNP	ENST00000370995.2	37	c.401G>T	CCDS30746.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.173914	0.78452	.	.	ENSG00000142864	ENST00000370994;ENST00000370995;ENST00000361219;ENST00000370990	.	.	.	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.73729	0.3624	M	0.78637	2.42	0.80722	D	1	D;D;B;B	0.64830	0.987;0.994;0.002;0.008	D;P;B;B	0.65010	0.931;0.765;0.002;0.008	T	0.73864	-0.3848	9	0.42905	T	0.14	-21.7694	17.5641	0.87914	0.0:1.0:0.0:0.0	.	197;197;134;134	D3DQ69;D3DQ70;Q8NC51-3;Q8NC51	.;.;.;PAIRB_HUMAN	L	134	.	ENSP00000354591:R134L	R	-	2	0	SERBP1	67664469	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.674000	0.61612	2.528000	0.85240	0.467000	0.42956	CGT		0.423	SERBP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025984.2	NM_001018067		114	282	1	0	9.62e-41	1.45e-40	114	282				
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74833001	74833001	+	Silent	SNP	T	T	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:74833001T>C	ENST00000370899.3	+	14	1579	c.1542T>C	c.(1540-1542)tgT>tgC	p.C514C	FPGT-TNNI3K_ENST00000557284.2_Silent_p.C527C|FPGT-TNNI3K_ENST00000370895.1_Silent_p.C514C|TNNI3K_ENST00000370891.2_Silent_p.C514C|RP11-439H8.4_ENST00000415549.2_RNA|TNNI3K_ENST00000326637.3_Silent_p.C413C	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough																		AATTGCCCTGTAATGAATATT	0.358																																						uc001dgf.1		NA																	0				large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(1237-1239)TGT>TGC		TNNI3 interacting kinase isoform b							140.0	150.0	146.0					1																	74833001		2203	4299	6502	SO:0001819	synonymous_variant	51086					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	g.chr1:74833001T>C			1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.1542T>C	1.37:g.74833001T>C						TNNI3K_uc001dgc.1_Silent_p.C514C|TNNI3K_uc001dgd.2_Silent_p.C514C|TNNI3K_uc001dge.1_Silent_p.C514C	p.C413C	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN			12	1290	+			413						Silent	SNP	ENST00000370899.3	37	c.1239T>C																																																																																					0.358	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3			60	139	0	0	0	0	60	139				
IFI44L	10964	broad.mit.edu	37	1	79093997	79093997	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:79093997G>T	ENST00000370751.5	+	2	576	c.397G>T	c.(397-399)Gat>Tat	p.D133Y	IFI44L_ENST00000476521.1_Intron|IFI44L_ENST00000342282.3_Intron	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	133					defense response to virus (GO:0051607)|immune response (GO:0006955)	cytoplasm (GO:0005737)				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						AATTTATCTAGATAAAATGAT	0.299																																						uc010oro.1		NA																	0					0						c.(397-399)GAT>TAT		interferon-induced protein 44-like							29.0	31.0	30.0					1																	79093997		2201	4283	6484	SO:0001583	missense	10964					cytoplasm		g.chr1:79093997G>T	AB000115	CCDS687.2	1p22.3	2008-07-18	2004-11-12	2004-11-12	ENSG00000137959	ENSG00000137959			17817	protein-coding gene	gene with protein product		613975	"""chromosome 1 open reading frame 29"""	C1orf29			Standard	NM_006820		Approved	GS3686	uc010oro.2	Q53G44	OTTHUMG00000009724	ENST00000370751.5:c.397G>T	1.37:g.79093997G>T	ENSP00000359787:p.Asp133Tyr					IFI44L_uc010orp.1_Intron|IFI44L_uc010orq.1_Intron	p.D133Y	NM_006820	NP_006811	Q53G44	IF44L_HUMAN			2	576	+			133					Q86TE1|Q96B64|Q99984	Missense_Mutation	SNP	ENST00000370751.5	37	c.397G>T	CCDS687.2	.	.	.	.	.	.	.	.	.	.	G	8.912	0.959066	0.18507	.	.	ENSG00000137959	ENST00000370751;ENST00000450498	T;T	0.14391	3.09;2.51	3.59	-4.44	0.03557	.	1.608050	0.03877	N	0.276621	T	0.01870	0.0059	N	0.11927	0.2	0.09310	N	1	B	0.15141	0.012	B	0.08055	0.003	T	0.43893	-0.9363	10	0.66056	D	0.02	.	2.5781	0.04811	0.3134:0.3949:0.19:0.1017	.	133	Q53G44	IF44L_HUMAN	Y	133;110	ENSP00000359787:D133Y;ENSP00000400784:D110Y	ENSP00000359787:D133Y	D	+	1	0	IFI44L	78866585	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	-4.426000	0.00236	-0.668000	0.05296	0.411000	0.27672	GAT		0.299	IFI44L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026834.3	NM_006820		15	42	1	0	2.32e-05	2.63e-05	15	42				
OLFM3	118427	broad.mit.edu	37	1	102312602	102312602	+	5'Flank	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:102312602C>G	ENST00000338858.5	-	0	0				OLFM3_ENST00000370103.4_Intron|OLFM3_ENST00000462354.1_Intron|OLFM3_ENST00000359814.3_5'Flank			Q96PB7	NOE3_HUMAN	olfactomedin 3						eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		GGAGGCGTGACTGCAGCGCGC	0.552																																						uc001duf.2		NA																	0				ovary(2)|skin(1)	3						c.e1-1		olfactomedin 3																																				SO:0001631	upstream_gene_variant	118427					extracellular region		g.chr1:102312602C>G	AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"""optimedin"""	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941		1.37:g.102312602C>G	Exception_encountered					OLFM3_uc001dug.2_Intron|OLFM3_uc001duh.2_Intron|OLFM3_uc001dui.2_Intron|OLFM3_uc001duj.2_Intron|OLFM3_uc001due.2_Splice_Site		NM_058170	NP_477518	Q96PB7	NOE3_HUMAN		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)	1	1	-		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)						Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Splice_Site	SNP	ENST00000338858.5	37	c.-70_splice																																																																																					0.552	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000030142.1			11	38	0	0	0	0	11	38				
COL11A1	1301	broad.mit.edu	37	1	103381240	103381240	+	Splice_Site	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:103381240C>A	ENST00000370096.3	-	50	4075	c.3763G>T	c.(3763-3765)Ggt>Tgt	p.G1255C	COL11A1_ENST00000353414.4_Splice_Site_p.G1216C|COL11A1_ENST00000512756.1_Splice_Site_p.G1139C|COL11A1_ENST00000358392.2_Splice_Site_p.G1267C	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1255	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCAGGTTCACCCTATATAGAG	0.353																																						uc001dul.2		NA																	0				ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(3763-3765)GGT>TGT		alpha 1 type XI collagen isoform A							83.0	83.0	83.0					1																	103381240		2203	4300	6503	SO:0001630	splice_region_variant	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103381240C>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3763-1G>T	1.37:g.103381240C>A						COL11A1_uc001duk.2_Missense_Mutation_p.G451C|COL11A1_uc001dum.2_Missense_Mutation_p.G1267C|COL11A1_uc001dun.2_Missense_Mutation_p.G1216C|COL11A1_uc009weh.2_Missense_Mutation_p.G1139C	p.G1255C	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	50	4081	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1255			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.3763G>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.462781	0.63513	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.97976	-4.31;-4.24;-4.31;-4.64	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.99318	0.9761	H	0.97682	4.055	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.997;1.0;1.0;1.0;0.999	D	0.98799	1.0739	10	0.87932	D	0	.	18.9027	0.92449	0.0:1.0:0.0:0.0	.	1139;1216;1267;1255;475	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	C	1255;1267;1216;475;1139	ENSP00000359114:G1255C;ENSP00000351163:G1267C;ENSP00000302551:G1216C;ENSP00000426533:G1139C	ENSP00000302551:G1216C	G	-	1	0	COL11A1	103153828	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	7.150000	0.77403	2.559000	0.86315	0.585000	0.79938	GGT		0.353	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	Missense_Mutation	70	114	1	0	1.71e-16	2.32e-16	70	114				
COL11A1	1301	broad.mit.edu	37	1	103488414	103488414	+	Missense_Mutation	SNP	C	C	A	rs376421641		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:103488414C>A	ENST00000370096.3	-	8	1441	c.1129G>T	c.(1129-1131)Gat>Tat	p.D377Y	COL11A1_ENST00000353414.4_Missense_Mutation_p.D338Y|COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000358392.2_Missense_Mutation_p.D389Y	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	377	Nonhelical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCGCCTAAATCTCCATCTACC	0.378													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16912	0.0		0.0	False		,,,				2504	0.0					uc001dul.2		NA																	0				ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(1129-1131)GAT>TAT		alpha 1 type XI collagen isoform A		C	TYR/ASP,TYR/ASP,TYR/ASP,	1,4405	2.1+/-5.4	0,1,2202	76.0	76.0	76.0		1012,1129,1165,	5.4	1.0	1		76	0,8600		0,0,4300	no	missense,missense,missense,intron	COL11A1	NM_001190709.1,NM_001854.3,NM_080629.2,NM_080630.3	160,160,160,	0,1,6502	AA,AC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,	338/1768,377/1807,389/1819,	103488414	1,13005	2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103488414C>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1129G>T	1.37:g.103488414C>A	ENSP00000359114:p.Asp377Tyr					COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.D389Y|COL11A1_uc001dun.2_Missense_Mutation_p.D338Y|COL11A1_uc009weh.2_Intron	p.D377Y	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	8	1447	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	377			Nonhelical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.1129G>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.460842	0.43736	2.27E-4	0.0	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000427239	D;T;D;T	0.88664	-2.39;-0.59;-2.41;-0.6	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.91088	0.7195	M	0.80028	2.48	0.49915	D	0.999839	D;D;P	0.54207	0.965;0.965;0.94	P;P;P	0.51135	0.66;0.66;0.459	D	0.92256	0.5813	10	0.72032	D	0.01	.	17.3759	0.87391	0.0:1.0:0.0:0.0	.	338;389;377	P12107-3;P12107-2;P12107	.;.;COBA1_HUMAN	Y	377;389;338;389	ENSP00000359114:D377Y;ENSP00000351163:D389Y;ENSP00000302551:D338Y;ENSP00000408640:D389Y	ENSP00000302551:D338Y	D	-	1	0	COL11A1	103261002	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	5.088000	0.64486	2.519000	0.84933	0.643000	0.83706	GAT		0.378	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		28	139	1	0	4.88e-14	6.46e-14	28	139				
NOTCH2	4853	broad.mit.edu	37	1	120462937	120462937	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:120462937G>C	ENST00000256646.2	-	30	5613	c.5394C>G	c.(5392-5394)gaC>gaG	p.D1798E	NOTCH2_ENST00000493703.1_5'Flank	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1798					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCTACGGATGTCTGCAGCTT	0.557			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													uc001eik.2		NA		Dom	yes		1	1p13-p11	4853	N|F|Mis	Notch homolog 2			L			marginal zone lymphoma|DLBCL		0				lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27						c.(5392-5394)GAC>GAG		notch 2 preproprotein							173.0	128.0	143.0					1																	120462937		2203	4300	6503	SO:0001583	missense	4853	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120462937G>C	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.5394C>G	1.37:g.120462937G>C	ENSP00000256646:p.Asp1798Glu						p.D1798E	NM_024408	NP_077719	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	30	5650	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	1798			Cytoplasmic (Potential).		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	c.5394C>G	CCDS908.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.084047	0.76642	.	.	ENSG00000134250	ENST00000256646	D	0.83914	-1.78	5.82	2.03	0.26663	.	0.000000	0.39341	U	0.001391	D	0.83170	0.5196	M	0.62209	1.925	0.53688	D	0.999973	D	0.76494	0.999	D	0.78314	0.991	T	0.82299	-0.0526	10	0.52906	T	0.07	.	7.9739	0.30143	0.4415:0.0:0.5585:0.0	.	1798	Q04721	NOTC2_HUMAN	E	1798	ENSP00000256646:D1798E	ENSP00000256646:D1798E	D	-	3	2	NOTCH2	120264460	0.992000	0.36948	1.000000	0.80357	0.984000	0.73092	0.232000	0.17891	0.589000	0.29677	0.655000	0.94253	GAC		0.557	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		50	86	0	0	0	0	50	86				
PLEKHO1	51177	broad.mit.edu	37	1	150129588	150129588	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:150129588G>C	ENST00000369124.4	+	5	711	c.433G>C	c.(433-435)Gag>Cag	p.E145Q	PLEKHO1_ENST00000369126.1_Intron|PLEKHO1_ENST00000025469.6_Intron|PLEKHO1_ENST00000479194.1_3'UTR	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	145	Interaction with ATM, CKIP, IFP35 and NMI.|Interaction with capping proteins (CPs).					cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGTCACCGTTGAGGAGGACAG	0.557																																						uc001ett.2		NA																	0				lung(1)	1						c.(433-435)GAG>CAG		pleckstrin homology domain containing, family O							112.0	91.0	98.0					1																	150129588		2203	4300	6503	SO:0001583	missense	51177					cytoplasm|nucleus|plasma membrane		g.chr1:150129588G>C	AF073836	CCDS945.1	1q21.2	2013-01-10			ENSG00000023902	ENSG00000023902		"""Pleckstrin homology (PH) domain containing"""	24310	protein-coding gene	gene with protein product		608335				10799509	Standard	NM_016274		Approved	CKIP-1, OC120	uc001ett.3	Q53GL0	OTTHUMG00000012510	ENST00000369124.4:c.433G>C	1.37:g.150129588G>C	ENSP00000358120:p.Glu145Gln					PLEKHO1_uc001etr.2_5'UTR|PLEKHO1_uc001ets.2_Intron|PLEKHO1_uc001etu.2_5'UTR	p.E145Q	NM_016274	NP_057358	Q53GL0	PKHO1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		5	711	+	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		145			Interaction with ATM, CKIP, IFP35 and NMI.|Interaction with capping proteins (CPs).		Q336K5|Q8IZ51|Q9NRV3|Q9UL48	Missense_Mutation	SNP	ENST00000369124.4	37	c.433G>C	CCDS945.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.957083	0.92726	.	.	ENSG00000023902	ENST00000369124;ENST00000441340	T;T	0.25749	2.15;1.78	4.69	4.69	0.59074	.	.	.	.	.	T	0.40909	0.1136	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.17623	-1.0363	9	0.51188	T	0.08	-13.2008	17.1381	0.86745	0.0:0.0:1.0:0.0	.	145	Q53GL0	PKHO1_HUMAN	Q	145;25	ENSP00000358120:E145Q;ENSP00000409060:E25Q	ENSP00000358120:E145Q	E	+	1	0	PLEKHO1	148396212	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.285000	0.89914	2.595000	0.87683	0.555000	0.69702	GAG		0.557	PLEKHO1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034962.1	NM_016274		20	88	0	0	0	0	20	88				
CLK2	1196	broad.mit.edu	37	1	155236610	155236610	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:155236610T>A	ENST00000368361.4	-	7	1063	c.748A>T	c.(748-750)Acc>Tcc	p.T250S	CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000361168.5_Missense_Mutation_p.T249S|CLK2_ENST00000536801.1_Missense_Mutation_p.T250S|CLK2_ENST00000355560.4_Missense_Mutation_p.T248S			P49760	CLK2_HUMAN	CDC-like kinase 2	250	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of gluconeogenesis (GO:0045721)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)|response to ionizing radiation (GO:0010212)|response to retinoic acid (GO:0032526)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AAATCGAAGGTGCTAAGGCCC	0.542								Other conserved DNA damage response genes																														uc001fjy.2		NA																	0					0						c.(748-750)ACC>TCC	Other_conserved_DNA_damage_response_genes	CDC-like kinase 2							130.0	116.0	121.0					1																	155236610		2203	4300	6503	SO:0001583	missense	1196					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:155236610T>A	L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444		"""CDC-like kinases"""	2069	protein-coding gene	gene with protein product		602989				7990150, 9856501	Standard	XM_005244876		Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.748A>T	1.37:g.155236610T>A	ENSP00000357345:p.Thr250Ser					RAG1AP1_uc010pey.1_Intron|CLK2_uc001fjw.2_Missense_Mutation_p.T249S|CLK2_uc001fjx.2_Missense_Mutation_p.T22S|CLK2_uc009wqm.2_Missense_Mutation_p.T250S	p.T250S	NM_003993	NP_003984	P49760	CLK2_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		7	1038	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		250			Protein kinase.		B1AVS9|B5MBX6|Q96CQ0	Missense_Mutation	SNP	ENST00000368361.4	37	c.748A>T		.	.	.	.	.	.	.	.	.	.	.	31	5.081278	0.94050	.	.	ENSG00000176444	ENST00000361168;ENST00000368361;ENST00000355560;ENST00000424156;ENST00000536801	T;T;T;T	0.19938	2.11;2.11;2.11;2.11	5.38	5.38	0.77491	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.13713	0.0332	N	0.17674	0.51	0.80722	D	1	B;P	0.39060	0.411;0.657	P;P	0.48030	0.564;0.509	T	0.04796	-1.0926	10	0.87932	D	0	.	14.3522	0.66711	0.0:0.0:0.0:1.0	.	250;249	P49760;P49760-3	CLK2_HUMAN;.	S	249;250;248;22;250	ENSP00000354856:T249S;ENSP00000357345:T250S;ENSP00000347759:T248S;ENSP00000441023:T250S	ENSP00000347759:T248S	T	-	1	0	CLK2	153503234	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.868000	0.87116	2.264000	0.75181	0.533000	0.62120	ACC		0.542	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000087391.1	NM_003993		37	70	0	0	0	0	37	70				
SYT11	23208	broad.mit.edu	37	1	155851056	155851056	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:155851056G>A	ENST00000368324.4	+	4	1306	c.1053G>A	c.(1051-1053)aaG>aaA	p.K351K	SYT11_ENST00000539162.1_Silent_p.K44K	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	351	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				negative regulation of neurotransmitter secretion (GO:0046929)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			CCCATGTGAAGAAGTGCACTT	0.473																																						uc001fmg.2		NA																	0				ovary(1)|skin(1)	2						c.(1051-1053)AAG>AAA		synaptotagmin XI							283.0	296.0	292.0					1																	155851056		2203	4300	6503	SO:0001819	synonymous_variant	23208					cell junction|synaptic vesicle membrane	protein binding|transporter activity	g.chr1:155851056G>A	D38522	CCDS1122.1	1q22	2013-01-21			ENSG00000132718	ENSG00000132718		"""Synaptotagmins"""	19239	protein-coding gene	gene with protein product		608741				11543631	Standard	NM_152280		Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	Q9BT88	OTTHUMG00000014105	ENST00000368324.4:c.1053G>A	1.37:g.155851056G>A						SYT11_uc010pgq.1_Silent_p.K44K	p.K351K	NM_152280	NP_689493	Q9BT88	SYT11_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.000162)		4	1316	+	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		351			C2 2.|Cytoplasmic (Potential).		Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	Silent	SNP	ENST00000368324.4	37	c.1053G>A	CCDS1122.1																																																																																				0.473	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039597.1	NM_152280		95	646	0	0	0	0	95	646				
SPTA1	6708	broad.mit.edu	37	1	158582745	158582745	+	Silent	SNP	G	G	T	rs552346683		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:158582745G>T	ENST00000368147.4	-	51	7176	c.6996C>A	c.(6994-6996)ggC>ggA	p.G2332G	SPTA1_ENST00000485680.1_5'Flank	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2332	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTGAGACATAGCCCTTCCTGT	0.473																																						uc001fst.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(6994-6996)GGC>GGA		spectrin, alpha, erythrocytic 1							66.0	62.0	63.0					1																	158582745		1911	4130	6041	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158582745G>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6996C>A	1.37:g.158582745G>T							p.G2332G	NM_003126	NP_003117	P02549	SPTA1_HUMAN			51	7195	-	all_hematologic(112;0.0378)		2332			EF-hand 2.|2 (Potential).		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.6996C>A	CCDS41423.1																																																																																				0.473	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		33	71	1	0	9.78e-22	1.38e-21	33	71				
OR6N1	128372	broad.mit.edu	37	1	158735613	158735613	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:158735613G>T	ENST00000335094.2	-	1	879	c.860C>A	c.(859-861)cCc>cAc	p.P287H		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, 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)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					GTAGATGAAGGGGTTGAGGAA	0.522																																						uc010piq.1		NA																	0				ovary(1)	1						c.(859-861)CCC>CAC		olfactory receptor, family 6, subfamily N,							168.0	162.0	164.0					1																	158735613		2203	4300	6503	SO:0001583	missense	128372				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158735613G>T	BK004199	CCDS30905.1	1q23.1	2012-08-09			ENSG00000197403	ENSG00000197403		"""GPCR / Class A : Olfactory receptors"""	15034	protein-coding gene	gene with protein product							Standard	NM_001005185		Approved		uc010piq.2	Q8NGY5	OTTHUMG00000022774	ENST00000335094.2:c.860C>A	1.37:g.158735613G>T	ENSP00000335535:p.Pro287His						p.P287H	NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN			1	860	-	all_hematologic(112;0.0378)		287			Helical; Name=7; (Potential).		Q5VUU8|Q96R35	Missense_Mutation	SNP	ENST00000335094.2	37	c.860C>A	CCDS30905.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.489733	0.64074	.	.	ENSG00000197403	ENST00000335094	T	0.64260	-0.09	4.92	4.92	0.64577	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45867	D	0.000322	D	0.82384	0.5025	M	0.93763	3.455	0.43841	D	0.996424	D	0.89917	1.0	D	0.91635	0.999	D	0.86984	0.2106	10	0.87932	D	0	-25.1542	17.0563	0.86534	0.0:0.0:1.0:0.0	.	287	Q8NGY5	OR6N1_HUMAN	H	287	ENSP00000335535:P287H	ENSP00000335535:P287H	P	-	2	0	OR6N1	157002237	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	6.217000	0.72218	2.529000	0.85273	0.643000	0.83706	CCC		0.522	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059067.1	NM_001005185		45	239	1	0	5.34e-22	7.58e-22	45	239				
MAEL	84944	broad.mit.edu	37	1	166974632	166974632	+	Silent	SNP	A	A	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:166974632A>T	ENST00000367872.4	+	8	1087	c.843A>T	c.(841-843)acA>acT	p.T281T	MAEL_ENST00000367870.2_Silent_p.T250T|MAEL_ENST00000491055.1_3'UTR|RNA5SP65_ENST00000363166.1_RNA	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	281					cell differentiation (GO:0030154)|cell morphogenesis (GO:0000902)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|piRNA metabolic process (GO:0034587)|regulation of organ growth (GO:0046620)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	autosome (GO:0030849)|chromatin (GO:0000785)|chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|perinuclear region of cytoplasm (GO:0048471)|piP-body (GO:0071547)|XY body (GO:0001741)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						CTAGCAACACAAGGTATTGCT	0.373																																						uc001gdy.1		NA																	0				skin(1)	1						c.(841-843)ACA>ACT		maelstrom homolog							78.0	82.0	81.0					1																	166974632		2203	4299	6502	SO:0001819	synonymous_variant	84944				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding	g.chr1:166974632A>T	AK027810, DQ076156	CCDS1257.1, CCDS65712.1, CCDS72975.1	1q24.1	2013-10-11	2012-12-18		ENSG00000143194	ENSG00000143194			25929	protein-coding gene	gene with protein product	"""cancer/testis antigen 128"", ""spermatogenesis associated 35"""	611368	"""maelstrom homolog (Drosophila)"""			19693694, 18694567	Standard	NM_001286378		Approved	FLJ14904, CT128, SPATA35	uc001gdy.1	Q96JY0	OTTHUMG00000034432	ENST00000367872.4:c.843A>T	1.37:g.166974632A>T						MAEL_uc001gdz.1_Silent_p.T250T|MAEL_uc009wvf.1_RNA	p.T281T	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN			8	914	+			281					B4DY43|E9JVC3|Q49AP9|Q5VZP8|Q9UIW6	Silent	SNP	ENST00000367872.4	37	c.843A>T	CCDS1257.1																																																																																				0.373	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083239.1	NM_032858		45	92	0	0	0	0	45	92				
MAEL	84944	broad.mit.edu	37	1	166987197	166987197	+	Splice_Site	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:166987197G>T	ENST00000367872.4	+	10	1285		c.e10+1		MAEL_ENST00000491055.1_Splice_Site|MAEL_ENST00000367870.2_Splice_Site	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer						cell differentiation (GO:0030154)|cell morphogenesis (GO:0000902)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|piRNA metabolic process (GO:0034587)|regulation of organ growth (GO:0046620)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	autosome (GO:0030849)|chromatin (GO:0000785)|chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|perinuclear region of cytoplasm (GO:0048471)|piP-body (GO:0071547)|XY body (GO:0001741)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						GCGTTACCAGGTAAGGAACTG	0.443																																						uc001gdy.1		NA																	0				skin(1)	1						c.e10+1		maelstrom homolog							138.0	115.0	122.0					1																	166987197		2203	4300	6503	SO:0001630	splice_region_variant	84944				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding	g.chr1:166987197G>T	AK027810, DQ076156	CCDS1257.1, CCDS65712.1, CCDS72975.1	1q24.1	2013-10-11	2012-12-18		ENSG00000143194	ENSG00000143194			25929	protein-coding gene	gene with protein product	"""cancer/testis antigen 128"", ""spermatogenesis associated 35"""	611368	"""maelstrom homolog (Drosophila)"""			19693694, 18694567	Standard	NM_001286378		Approved	FLJ14904, CT128, SPATA35	uc001gdy.1	Q96JY0	OTTHUMG00000034432	ENST00000367872.4:c.1041+1G>T	1.37:g.166987197G>T						MAEL_uc001gdz.1_Splice_Site_p.Q316_splice|MAEL_uc009wvf.1_Splice_Site	p.Q347_splice	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN			10	1112	+								B4DY43|E9JVC3|Q49AP9|Q5VZP8|Q9UIW6	Splice_Site	SNP	ENST00000367872.4	37	c.1041_splice	CCDS1257.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.270865	0.59540	.	.	ENSG00000143194	ENST00000367872;ENST00000367870;ENST00000537744	.	.	.	5.41	4.49	0.54785	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.5769	0.45233	0.092:0.0:0.908:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAEL	165253821	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	3.584000	0.53936	2.547000	0.85894	0.484000	0.47621	.		0.443	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083239.1	NM_032858	Intron	44	100	1	0	5.24e-18	7.27e-18	44	100				
DNM3	26052	broad.mit.edu	37	1	172357712	172357712	+	Splice_Site	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:172357712G>T	ENST00000355305.5	+	20	2460		c.e20-1		DNM3_ENST00000358155.4_Splice_Site|DNM3_ENST00000367731.1_Splice_Site			Q9UQ16	DYN3_HUMAN	dynamin 3						endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TTTTTCCTCAGGTCACCTCCT	0.458																																						uc001gie.2		NA																	0				breast(1)	1						c.e20-1		dynamin 3 isoform a							36.0	45.0	42.0					1																	172357712		1946	4138	6084	SO:0001630	splice_region_variant	26052				endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding	g.chr1:172357712G>T	AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"""Pleckstrin homology (PH) domain containing"""	29125	protein-coding gene	gene with protein product	"""Dyna III"""	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.2304-1G>T	1.37:g.172357712G>T						DNM3_uc001gif.2_Splice_Site_p.R758_splice|DNM3_uc001gih.1_Splice_Site_p.R118_splice	p.R762_splice	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN			20	2462	+								A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Splice_Site	SNP	ENST00000355305.5	37	c.2286_splice		.	.	.	.	.	.	.	.	.	.	G	15.04	2.716116	0.48622	.	.	ENSG00000197959	ENST00000359070;ENST00000358155;ENST00000355305;ENST00000367731;ENST00000485254	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5677	0.87924	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNM3	170624335	1.000000	0.71417	1.000000	0.80357	0.455000	0.32408	9.161000	0.94739	2.493000	0.84123	0.591000	0.81541	.		0.458	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000084531.1	NM_015569	Intron	20	52	1	0	1.56e-12	2.04e-12	20	52				
PAPPA2	60676	broad.mit.edu	37	1	176525640	176525640	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:176525640C>G	ENST00000367662.3	+	2	1346	c.182C>G	c.(181-183)gCt>gGt	p.A61G	PAPPA2_ENST00000367661.3_Missense_Mutation_p.A61G	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	61					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)			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						AGACCCAGAGCTTCTCCACAG	0.557																																						uc001gkz.2		NA																	0				ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(181-183)GCT>GGT		pappalysin 2 isoform 1							101.0	99.0	100.0					1																	176525640		1965	4152	6117	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176525640C>G	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.182C>G	1.37:g.176525640C>G	ENSP00000356634:p.Ala61Gly					PAPPA2_uc001gky.1_Missense_Mutation_p.A61G|PAPPA2_uc009www.2_RNA	p.A61G	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			2	1346	+			61					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.182C>G	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	C	10.62	1.400608	0.25291	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.39787	4.32;1.06	4.82	0.739	0.18324	.	0.431343	0.19229	U	0.119455	T	0.29458	0.0734	L	0.50333	1.59	0.22354	N	0.999174	B;P	0.37781	0.281;0.608	B;B	0.32980	0.057;0.156	T	0.17167	-1.0378	10	0.66056	D	0.02	5.0E-4	4.5963	0.12330	0.0:0.56:0.1603:0.2798	.	61;61	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	G	61	ENSP00000356634:A61G;ENSP00000356633:A61G	ENSP00000356633:A61G	A	+	2	0	PAPPA2	174792263	1.000000	0.71417	0.142000	0.22268	0.472000	0.32918	1.119000	0.31258	-0.123000	0.11745	0.561000	0.74099	GCT		0.557	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			100	216	0	0	0	0	100	216				
CACNA1E	777	broad.mit.edu	37	1	181727125	181727125	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:181727125C>T	ENST00000367573.2	+	31	4372	c.4372C>T	c.(4372-4374)Cgc>Tgc	p.R1458C	CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1065C|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1458C|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1409C|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1390C|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1439C|CACNA1E_ENST00000526775.1_Missense_Mutation_p.R1439C	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1458					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ACCTCTCACCCGCTACATGCC	0.517																																						uc001gow.2		NA																	0				ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(4372-4374)CGC>TGC		calcium channel, voltage-dependent, R type,							145.0	151.0	149.0					1																	181727125		2137	4237	6374	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181727125C>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.4372C>T	1.37:g.181727125C>T	ENSP00000356545:p.Arg1458Cys					CACNA1E_uc009wxs.2_Missense_Mutation_p.R1346C|CACNA1E_uc001gox.1_Missense_Mutation_p.R684C|CACNA1E_uc009wxt.2_Missense_Mutation_p.R684C	p.R1458C	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			31	4537	+			1458			Cytoplasmic (Potential).		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.4372C>T	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	34	5.299783	0.95574	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.97016	-4.13;-4.14;-4.21;-4.14;-4.21;-4.21;-4.21	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.98419	0.9474	M	0.88181	2.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.991;0.997	D	0.99541	1.0963	10	0.87932	D	0	.	18.5085	0.90907	0.0:1.0:0.0:0.0	.	1439;1458;1458	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	C	1458;1439;1409;1390;1065;1439;1458	ENSP00000356542:R1458C;ENSP00000434814:R1439C;ENSP00000350183:R1409C;ENSP00000351101:R1390C;ENSP00000356539:R1065C;ENSP00000353222:R1439C;ENSP00000356545:R1458C	ENSP00000350183:R1409C	R	+	1	0	CACNA1E	179993748	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	3.803000	0.55560	2.465000	0.83290	0.655000	0.94253	CGC		0.517	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		30	135	0	0	0	0	30	135				
LAMC2	3918	broad.mit.edu	37	1	183177137	183177137	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:183177137G>A	ENST00000264144.4	+	2	266	c.201G>A	c.(199-201)aaG>aaA	p.K67K	LAMC2_ENST00000493293.1_Silent_p.K67K	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	67	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						ACTGCGAGAAGTGCAAGAATG	0.498																																						uc001gqa.2		NA																	0				skin(2)|ovary(1)	3						c.(199-201)AAG>AAA		laminin, gamma 2 isoform a precursor							283.0	272.0	276.0					1																	183177137		2203	4300	6503	SO:0001819	synonymous_variant	3918				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	g.chr1:183177137G>A	Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"""Laminins"""	6493	protein-coding gene	gene with protein product		150292	"""laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"""	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.201G>A	1.37:g.183177137G>A						LAMC2_uc001gpz.3_Silent_p.K67K|LAMC2_uc010poa.1_Translation_Start_Site	p.K67K	NM_005562	NP_005553	Q13753	LAMC2_HUMAN			2	515	+			67			Laminin EGF-like 1.		Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Silent	SNP	ENST00000264144.4	37	c.201G>A	CCDS1352.1																																																																																				0.498	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562		207	366	0	0	0	0	207	366				
CACNA1S	779	broad.mit.edu	37	1	201061195	201061195	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:201061195G>A	ENST00000362061.3	-	4	672	c.446C>T	c.(445-447)aCa>aTa	p.T149I	CACNA1S_ENST00000367338.3_Missense_Mutation_p.T149I	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	149					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CATTGGGGCTGTGTGGCTTTG	0.597																																						uc001gvv.2		NA																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(445-447)ACA>ATA		calcium channel, voltage-dependent, L type,	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						100.0	95.0	97.0					1																	201061195		2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201061195G>A	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.446C>T	1.37:g.201061195G>A	ENSP00000355192:p.Thr149Ile						p.T149I	NM_000069	NP_000060	Q13698	CAC1S_HUMAN			4	673	-			149			Extracellular (Potential).|I.		A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.446C>T	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.607665	0.46527	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.96136	-3.92;-3.83	4.33	4.33	0.51752	Ion transport (1);	0.220649	0.14893	U	0.292302	D	0.90807	0.7113	N	0.13098	0.295	0.24392	N	0.994742	B	0.28055	0.199	B	0.34242	0.178	T	0.83243	-0.0057	10	0.30854	T	0.27	.	13.8027	0.63212	0.0:0.0:0.8464:0.1536	.	149	Q13698	CAC1S_HUMAN	I	149	ENSP00000355192:T149I;ENSP00000356307:T149I	ENSP00000355192:T149I	T	-	2	0	CACNA1S	199327818	0.028000	0.19301	0.998000	0.56505	0.988000	0.76386	1.260000	0.32968	2.104000	0.64026	0.655000	0.94253	ACA		0.597	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		49	74	0	0	0	0	49	74				
NFASC	23114	broad.mit.edu	37	1	204923419	204923419	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:204923419G>T	ENST00000401399.1	+	5	518	c.319G>T	c.(319-321)Ggg>Tgg	p.G107W	NFASC_ENST00000338515.6_Missense_Mutation_p.G107W|NFASC_ENST00000404076.1_Missense_Mutation_p.G101W|NFASC_ENST00000513543.1_Missense_Mutation_p.G101W|NFASC_ENST00000339876.6_Missense_Mutation_p.G107W|NFASC_ENST00000403080.1_Missense_Mutation_p.G107W|NFASC_ENST00000539706.1_Missense_Mutation_p.G101W|NFASC_ENST00000338586.6_Missense_Mutation_p.G107W|NFASC_ENST00000367169.4_Missense_Mutation_p.G107W|NFASC_ENST00000367171.4_Missense_Mutation_p.G107W|NFASC_ENST00000367170.4_Missense_Mutation_p.G107W|NFASC_ENST00000404907.1_Missense_Mutation_p.G101W|NFASC_ENST00000367172.4_Missense_Mutation_p.G107W|NFASC_ENST00000360049.4_Missense_Mutation_p.G101W			O94856	NFASC_HUMAN	neurofascin	107	Ig-like C2-type 1.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CCGCAGTGGCGGGCGGCCGGA	0.582																																						uc001hbj.2		NA																	0				ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.(319-321)GGG>TGG		neurofascin isoform 1 precursor							47.0	50.0	49.0					1																	204923419		2203	4300	6503	SO:0001583	missense	23114				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	g.chr1:204923419G>T	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.319G>T	1.37:g.204923419G>T	ENSP00000385637:p.Gly107Trp					NFASC_uc001hbh.2_Missense_Mutation_p.G107W|NFASC_uc010pqz.1_Missense_Mutation_p.G101W|NFASC_uc010pra.1_Missense_Mutation_p.G101W|NFASC_uc001hbi.2_Missense_Mutation_p.G101W|NFASC_uc009xbg.1_Missense_Mutation_p.G174W|NFASC_uc010prb.1_Missense_Mutation_p.G101W|NFASC_uc010prc.1_5'UTR	p.G107W	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		6	647	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		107			Ig-like C2-type 1.|Extracellular (Potential).		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	ENST00000401399.1	37	c.319G>T	CCDS53460.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.601550	0.87055	.	.	ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000446412;ENST00000403080;ENST00000404076;ENST00000401399;ENST00000505079;ENST00000404907;ENST00000513543;ENST00000430393	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.73152	1.02;-0.72;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;-0.3;1.02;1.02;1.02	5.37	5.37	0.77165	.	0.000000	0.56097	D	0.000040	D	0.86335	0.5908	M	0.85462	2.755	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.996;0.999;0.996;0.998;1.0	D	0.88345	0.2977	10	0.87932	D	0	.	18.6966	0.91603	0.0:0.0:1.0:0.0	.	101;101;203;107;101;107	O94856-11;O94856-8;B4DRH7;O94856-9;O94856-3;O94856-2	.;.;.;.;.;.	W	107;107;107;107;107;107;101;101;101;107;107;107;101;107;107;101;101;77	ENSP00000356140:G107W;ENSP00000356139:G107W;ENSP00000356138:G107W;ENSP00000342128:G107W;ENSP00000344786:G107W;ENSP00000343509:G107W;ENSP00000438614:G101W;ENSP00000353154:G101W;ENSP00000356137:G107W;ENSP00000412161:G107W;ENSP00000384875:G107W;ENSP00000385676:G101W;ENSP00000385637:G107W;ENSP00000427586:G107W;ENSP00000384061:G101W;ENSP00000425908:G101W;ENSP00000415031:G77W	ENSP00000295776:G101W	G	+	1	0	NFASC	203190042	1.000000	0.71417	0.995000	0.50966	0.619000	0.37552	9.728000	0.98792	2.516000	0.84829	0.655000	0.94253	GGG		0.582	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		18	60	1	0	1.97e-08	2.4e-08	18	60				
PROX1	5629	broad.mit.edu	37	1	214170736	214170736	+	Silent	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:214170736C>T	ENST00000366958.4	+	2	1466	c.858C>T	c.(856-858)gcC>gcT	p.A286A	PROX1_ENST00000261454.4_Silent_p.A286A|PROX1_ENST00000498508.2_Silent_p.A286A|PROX1_ENST00000435016.1_Silent_p.A286A	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	286					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TCCTGGATGCCAGGGCCCAGG	0.502																																						uc001hkh.2		NA																	0				ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6						c.(856-858)GCC>GCT		prospero homeobox 1							64.0	67.0	66.0					1																	214170736		2203	4300	6503	SO:0001819	synonymous_variant	5629				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214170736C>T	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.858C>T	1.37:g.214170736C>T						PROX1_uc001hkg.1_Silent_p.A286A	p.A286A	NM_002763	NP_002754	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	2	1130	+			286					A6NK29|A8K2B1|Q5SW76|Q8TB91	Silent	SNP	ENST00000366958.4	37	c.858C>T	CCDS31021.1																																																																																				0.502	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		39	94	0	0	0	0	39	94				
PROX1	5629	broad.mit.edu	37	1	214171345	214171345	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:214171345G>A	ENST00000366958.4	+	2	2075	c.1467G>A	c.(1465-1467)atG>atA	p.M489I	PROX1_ENST00000261454.4_Missense_Mutation_p.M489I|PROX1_ENST00000498508.2_Missense_Mutation_p.M489I|PROX1_ENST00000435016.1_Missense_Mutation_p.M489I	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	489					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TTCCCTTGATGGCCTATCCAT	0.602																																						uc001hkh.2		NA																	0				ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6						c.(1465-1467)ATG>ATA		prospero homeobox 1							80.0	90.0	87.0					1																	214171345		2203	4300	6503	SO:0001583	missense	5629				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214171345G>A	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.1467G>A	1.37:g.214171345G>A	ENSP00000355925:p.Met489Ile					PROX1_uc001hkg.1_Missense_Mutation_p.M489I	p.M489I	NM_002763	NP_002754	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	2	1739	+			489					A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	37	c.1467G>A	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.121314	0.56613	.	.	ENSG00000117707	ENST00000541470;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.46063	0.89;0.88;0.89;0.89	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.63745	0.2537	M	0.63428	1.95	0.80722	D	1	P	0.49559	0.925	D	0.67900	0.954	T	0.59669	-0.7411	10	0.45353	T	0.12	-4.9313	19.8546	0.96752	0.0:0.0:1.0:0.0	.	489	Q92786	PROX1_HUMAN	I	61;489;489;489;489	ENSP00000420283:M489I;ENSP00000355925:M489I;ENSP00000400694:M489I;ENSP00000261454:M489I	ENSP00000261454:M489I	M	+	3	0	PROX1	212237968	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.863000	0.99569	2.697000	0.92050	0.655000	0.94253	ATG		0.602	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		64	170	0	0	0	0	64	170				
PTPN14	5784	broad.mit.edu	37	1	214551325	214551325	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:214551325T>A	ENST00000366956.5	-	14	2859	c.2665A>T	c.(2665-2667)Acc>Tcc	p.T889S	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	889					lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GGAACCCGGGTGGCATCAACT	0.567																																					Colon(92;557 1424 24372 34121 40073)	uc001hkk.1		NA																	0				breast(2)|ovary(1)|kidney(1)|skin(1)	5						c.(2665-2667)ACC>TCC		protein tyrosine phosphatase, non-receptor type							117.0	104.0	108.0					1																	214551325		2203	4300	6503	SO:0001583	missense	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214551325T>A	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.2665A>T	1.37:g.214551325T>A	ENSP00000355923:p.Thr889Ser					PTPN14_uc010pty.1_Missense_Mutation_p.T790S	p.T889S	NM_005401	NP_005392	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	14	2936	-			889					Q5VSI0	Missense_Mutation	SNP	ENST00000366956.5	37	c.2665A>T	CCDS1514.1	.	.	.	.	.	.	.	.	.	.	T	11.38	1.620976	0.28889	.	.	ENSG00000152104	ENST00000366956	T	0.14022	2.54	5.35	2.74	0.32292	.	0.319538	0.33515	N	0.004825	T	0.08537	0.0212	L	0.31578	0.945	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.19321	-1.0309	10	0.35671	T	0.21	.	4.9498	0.14008	0.1416:0.2692:0.0:0.5892	.	889	Q15678	PTN14_HUMAN	S	889	ENSP00000355923:T889S	ENSP00000355923:T889S	T	-	1	0	PTPN14	212617948	0.079000	0.21365	0.991000	0.47740	0.732000	0.41865	-0.453000	0.06778	0.873000	0.35799	0.460000	0.39030	ACC		0.567	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		42	94	0	0	0	0	42	94				
HHIPL2	79802	broad.mit.edu	37	1	222700357	222700357	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:222700357C>A	ENST00000343410.6	-	7	1817	c.1759G>T	c.(1759-1761)Gcc>Tcc	p.A587S	HHIPL2_ENST00000473144.1_5'Flank	NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	587					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GGTGCATAGGCACTTGGGTAA	0.433																																						uc001hnh.1		NA																	0				ovary(1)	1						c.(1759-1761)GCC>TCC		HHIP-like 2 precursor							94.0	78.0	83.0					1																	222700357		2203	4300	6503	SO:0001583	missense	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222700357C>A	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.1759G>T	1.37:g.222700357C>A	ENSP00000342118:p.Ala587Ser						p.A587S	NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	7	1817	-			587					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	ENST00000343410.6	37	c.1759G>T	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995379	0.74703	.	.	ENSG00000143512	ENST00000343410	T	0.15603	2.41	5.05	5.05	0.67936	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.32556	0.0833	M	0.77820	2.39	0.58432	D	0.999995	P	0.38535	0.635	P	0.44811	0.461	T	0.09773	-1.0659	10	0.46703	T	0.11	-23.3279	18.0043	0.89205	0.0:1.0:0.0:0.0	.	587	Q6UWX4	HIPL2_HUMAN	S	587	ENSP00000342118:A587S	ENSP00000342118:A587S	A	-	1	0	HHIPL2	220766980	1.000000	0.71417	0.946000	0.38457	0.530000	0.34684	5.134000	0.64770	2.309000	0.77851	0.655000	0.94253	GCC		0.433	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		19	37	1	0	3.62e-10	4.58e-10	19	37				
RHOU	58480	broad.mit.edu	37	1	228879196	228879196	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:228879196G>T	ENST00000366691.3	+	3	1152	c.486G>T	c.(484-486)caG>caT	p.Q162H		NM_021205.5	NP_067028.1			ras homolog family member U											breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13	Breast(184;0.162)	Prostate(94;0.183)				TTGGAACGCAGTCGGATCTCA	0.527																																						uc001htf.2		NA																	0					0						c.(484-486)CAG>CAT		ras homolog gene family, member U							133.0	134.0	134.0					1																	228879196		2203	4300	6503	SO:0001583	missense	58480				regulation of small GTPase mediated signal transduction	cell projection|cytosol|focal adhesion|Golgi membrane|podosome	GTP binding|metal ion binding|protein binding	g.chr1:228879196G>T		CCDS1575.1	1q42.11-q42.3	2012-02-27	2012-02-27	2004-03-24	ENSG00000116574	ENSG00000116574			17794	protein-coding gene	gene with protein product	"""Ryu GTPase"", ""Wnt-1 responsive Cdc42 homolog"", ""2310026M05Rik"", ""GTP-binding protein like 1"", ""CDC42-like GTPase"", ""GTP-binding protein SB128"", ""ras-like gene family member U"""	606366	"""ras homolog gene family, member U"""	ARHU		11459829	Standard	NM_021205		Approved	WRCH-1, DJ646B12.2, FLJ10616, WRCH1, CDC42L1, hG28K, fJ646B12.2	uc001htf.3	Q7L0Q8	OTTHUMG00000037919	ENST00000366691.3:c.486G>T	1.37:g.228879196G>T	ENSP00000355652:p.Gln162His						p.Q162H	NM_021205	NP_067028	Q7L0Q8	RHOU_HUMAN			3	1107	+	Breast(184;0.162)	Prostate(94;0.183)	162			GTP.			Missense_Mutation	SNP	ENST00000366691.3	37	c.486G>T	CCDS1575.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.771514	0.90108	.	.	ENSG00000116574	ENST00000366691	T	0.69685	-0.42	4.73	4.73	0.59995	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.77572	0.4150	M	0.75264	2.295	0.80722	D	1	D	0.69078	0.997	P	0.57101	0.813	T	0.81322	-0.0985	10	0.87932	D	0	.	15.2086	0.73198	0.0:0.0:1.0:0.0	.	162	Q7L0Q8	RHOU_HUMAN	H	162	ENSP00000355652:Q162H	ENSP00000355652:Q162H	Q	+	3	2	RHOU	226945819	1.000000	0.71417	0.994000	0.49952	0.943000	0.58893	9.575000	0.98187	2.439000	0.82584	0.655000	0.94253	CAG		0.527	RHOU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092555.1	NM_021205		76	143	1	0	2.05e-37	3.07e-37	76	143				
NID1	4811	broad.mit.edu	37	1	236154329	236154329	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:236154329G>T	ENST00000264187.6	-	14	2867	c.2785C>A	c.(2785-2787)Caa>Aaa	p.Q929K	NID1_ENST00000366595.3_Missense_Mutation_p.Q796K	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	929					basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	GCAGGTCCTTGGTGAATCGGG	0.612																																						uc001hxo.2		NA																	0				large_intestine(1)|pancreas(1)	2						c.(2785-2787)CAA>AAA		nidogen 1 precursor	Becaplermin(DB00102)|Urokinase(DB00013)						54.0	53.0	53.0					1																	236154329		2203	4300	6503	SO:0001583	missense	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236154329G>T	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.2785C>A	1.37:g.236154329G>T	ENSP00000264187:p.Gln929Lys					NID1_uc009xgd.2_Missense_Mutation_p.Q796K|NID1_uc009xgc.2_Missense_Mutation_p.Q15K	p.Q929K	NM_002508	NP_002499	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		14	2887	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	929					Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	ENST00000264187.6	37	c.2785C>A	CCDS1608.1	.	.	.	.	.	.	.	.	.	.	G	4.933	0.173394	0.09391	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	D;D	0.87571	-1.6;-2.27	5.1	4.19	0.49359	.	0.808228	0.11754	N	0.532724	T	0.71476	0.3344	N	0.08118	0	0.09310	N	1	B;B	0.16396	0.016;0.017	B;B	0.20184	0.015;0.028	T	0.57952	-0.7722	10	0.18710	T	0.47	.	5.1364	0.14937	0.0796:0.2867:0.5107:0.123	.	796;929	P14543-2;P14543	.;NID1_HUMAN	K	929;796	ENSP00000264187:Q929K;ENSP00000355554:Q796K	ENSP00000264187:Q929K	Q	-	1	0	NID1	234220952	0.000000	0.05858	0.058000	0.19502	0.332000	0.28634	0.247000	0.18179	1.304000	0.44892	0.491000	0.48974	CAA		0.612	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		22	29	1	0	9.86e-18	1.36e-17	22	29				
RGS7	6000	broad.mit.edu	37	1	240964755	240964755	+	Splice_Site	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:240964755C>G	ENST00000407727.1	-	16	1412	c.1413G>C	c.(1411-1413)gtG>gtC	p.V471V	RGS7_ENST00000401882.1_Intron|RGS7_ENST00000366564.1_Intron|RGS7_ENST00000348120.2_Intron|RGS7_ENST00000446183.2_Intron|RGS7_ENST00000331110.7_Intron|RGS7_ENST00000366565.1_Splice_Site_p.V471V|RGS7_ENST00000366563.1_Intron|RGS7_ENST00000366562.4_Intron			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	471					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TTAAACTTACCACATTCTGTG	0.353																																						uc001hyv.2		NA																	0				ovary(4)|skin(2)|kidney(1)	7						c.(1411-1413)GTG>GTC		regulator of G-protein signaling 7							54.0	51.0	52.0					1																	240964755		2203	4297	6500	SO:0001630	splice_region_variant	6000				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	g.chr1:240964755C>G	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.1413+1G>C	1.37:g.240964755C>G						RGS7_uc010pyh.1_Intron|RGS7_uc010pyj.1_Intron|RGS7_uc001hyu.2_Intron|RGS7_uc009xgn.1_Intron|RGS7_uc001hyw.2_Intron|RGS7_uc001hyt.2_Silent_p.V303V	p.V471V	NM_002924	NP_002915	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		17	1743	-		all_cancers(173;0.0131)	471					Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Silent	SNP	ENST00000407727.1	37	c.1413G>C																																																																																					0.353	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924	Silent	3	40	0	0	0	0	3	40				
CNST	163882	broad.mit.edu	37	1	246805333	246805333	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:246805333G>A	ENST00000366513.4	+	8	1200	c.931G>A	c.(931-933)Gag>Aag	p.E311K	CNST_ENST00000366512.3_Missense_Mutation_p.E311K|CNST_ENST00000483271.1_3'UTR	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	311					negative regulation of phosphatase activity (GO:0010923)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	connexin binding (GO:0071253)|phosphatase binding (GO:0019902)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						TACCACCAAAGAGTCAGGTAT	0.418																																						uc001ibp.2		NA																	0					0						c.(931-933)GAG>AAG		hypothetical protein LOC163882 isoform 1							51.0	53.0	52.0					1																	246805333		2203	4299	6502	SO:0001583	missense	163882				positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding	g.chr1:246805333G>A	AK056563	CCDS1628.1, CCDS44343.1	1q44	2012-04-17	2009-11-03	2009-11-03	ENSG00000162852	ENSG00000162852		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26486	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 64"""	613439	"""chromosome 1 open reading frame 71"""	C1orf71		19864490	Standard	NM_152609		Approved	FLJ32001, PPP1R64	uc001ibp.3	Q6PJW8	OTTHUMG00000040090	ENST00000366513.4:c.931G>A	1.37:g.246805333G>A	ENSP00000355470:p.Glu311Lys					CNST_uc001ibo.3_Missense_Mutation_p.E311K	p.E311K	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN			8	1309	+			311					Q5VSY9|Q5VTM7|Q8IYA9|Q8N3L5|Q8NB09|Q8TEI2|Q96MR5	Missense_Mutation	SNP	ENST00000366513.4	37	c.931G>A	CCDS1628.1	.	.	.	.	.	.	.	.	.	.	g	6.671	0.492306	0.12702	.	.	ENSG00000162852	ENST00000366513;ENST00000366512	T;T	0.16073	2.37;2.39	5.8	3.72	0.42706	.	0.259681	0.32687	N	0.005780	T	0.10465	0.0256	L	0.41356	1.27	0.80722	D	1	B;B	0.15141	0.012;0.001	B;B	0.13407	0.009;0.004	T	0.09773	-1.0659	10	0.07175	T	0.84	-13.7197	5.2173	0.15350	0.3046:0.0:0.6954:0.0	.	311;311	Q6PJW8;Q6PJW8-2	CNST_HUMAN;.	K	311	ENSP00000355470:E311K;ENSP00000355469:E311K	ENSP00000355469:E311K	E	+	1	0	CNST	244871956	0.720000	0.27996	1.000000	0.80357	0.345000	0.29048	1.413000	0.34725	1.463000	0.47967	0.580000	0.79431	GAG		0.418	CNST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096780.1	NM_152609		8	32	0	0	0	0	8	32				
OR6F1	343169	broad.mit.edu	37	1	247875544	247875544	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:247875544G>C	ENST00000302084.2	-	1	561	c.514C>G	c.(514-516)Cgt>Ggt	p.R172G	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TTGATGGCACGGGGGCCACAG	0.597																																						uc001idj.1		NA																	0					0						c.(514-516)CGT>GGT		olfactory receptor, family 6, subfamily F,							82.0	90.0	87.0					1																	247875544		2203	4300	6503	SO:0001583	missense	343169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247875544G>C	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"""GPCR / Class A : Olfactory receptors"""	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.514C>G	1.37:g.247875544G>C	ENSP00000305640:p.Arg172Gly						p.R172G	NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	514	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		172			Extracellular (Potential).		B2RNV6|Q6IF02|Q96R39	Missense_Mutation	SNP	ENST00000302084.2	37	c.514C>G	CCDS31095.1	.	.	.	.	.	.	.	.	.	.	G	5.054	0.195597	0.09599	.	.	ENSG00000169214	ENST00000302084	T	0.00115	8.71	3.99	-0.598	0.11649	GPCR, rhodopsin-like superfamily (1);	0.929668	0.08880	N	0.880140	T	0.00178	0.0005	L	0.48218	1.51	0.09310	N	1	B	0.18741	0.03	B	0.29077	0.098	T	0.15665	-1.0429	10	0.72032	D	0.01	-3.8193	6.8024	0.23758	0.0962:0.0:0.2814:0.6223	.	172	Q8NGZ6	OR6F1_HUMAN	G	172	ENSP00000305640:R172G	ENSP00000305640:R172G	R	-	1	0	OR6F1	245942167	0.015000	0.18098	0.000000	0.03702	0.062000	0.15995	1.507000	0.35758	0.086000	0.17137	-0.293000	0.09583	CGT		0.597	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286		49	146	0	0	0	0	49	146				
OR2T4	127074	broad.mit.edu	37	1	248525300	248525300	+	Missense_Mutation	SNP	G	G	T	rs549704888	byFrequency	TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:248525300G>T	ENST00000366475.1	+	1	418	c.418G>T	c.(418-420)Gca>Tca	p.A140S		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	140						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CGTGACACTAGCAGGTTCAGA	0.522																																						uc001ieh.1		NA																	0				central_nervous_system(1)	1						c.(418-420)GCA>TCA		olfactory receptor, family 2, subfamily T,							170.0	167.0	168.0					1																	248525300		2203	4300	6503	SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525300G>T	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.418G>T	1.37:g.248525300G>T	ENSP00000355431:p.Ala140Ser						p.A140S	NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	418	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		140			Helical; Name=3; (Potential).		Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.418G>T	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	G	6.224	0.409411	0.11812	.	.	ENSG00000196944	ENST00000366475	D	0.85556	-2.0	3.48	2.53	0.30540	GPCR, rhodopsin-like superfamily (1);	1.104730	0.07031	N	0.828398	T	0.81494	0.4834	L	0.51422	1.61	0.09310	N	1	B	0.26400	0.148	B	0.28991	0.097	T	0.69643	-0.5090	10	0.45353	T	0.12	.	7.3395	0.26630	0.2969:0.0:0.7031:0.0	.	140	Q8NH00	OR2T4_HUMAN	S	140	ENSP00000355431:A140S	ENSP00000355431:A140S	A	+	1	0	OR2T4	246591923	0.000000	0.05858	0.148000	0.22405	0.565000	0.35776	0.405000	0.21015	1.469000	0.48083	0.485000	0.47835	GCA		0.522	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		53	277	1	0	4.45e-29	6.5e-29	53	277				
OR2T3	343173	broad.mit.edu	37	1	248636987	248636987	+	Silent	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:248636987G>T	ENST00000359594.2	+	1	361	c.336G>T	c.(334-336)ctG>ctT	p.L112L		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	112						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACCTGACCCTGGCTGGAGCTG	0.547																																						uc001iel.1		NA																	0				skin(1)	1						c.(334-336)CTG>CTT		olfactory receptor, family 2, subfamily T,							123.0	113.0	117.0					1																	248636987		2194	4298	6492	SO:0001819	synonymous_variant	343173				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248636987G>T		CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"""GPCR / Class A : Olfactory receptors"""	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.336G>T	1.37:g.248636987G>T							p.L112L	NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	336	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		112			Helical; Name=3; (Potential).		B2RNJ1	Silent	SNP	ENST00000359594.2	37	c.336G>T	CCDS31117.1																																																																																				0.547	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495		55	96	1	0	3.74e-36	5.59e-36	55	96				
OR2T34	127068	broad.mit.edu	37	1	248737450	248737450	+	Silent	SNP	G	G	T	rs148163660	byFrequency	TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:248737450G>T	ENST00000328782.2	-	1	630	c.609C>A	c.(607-609)ctC>ctA	p.L203L		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACAGGTACGTGAGCATCTTAT	0.517																																						uc001iep.1		NA																	0				large_intestine(1)|ovary(1)	2						c.(607-609)CTC>CTA		olfactory receptor, family 2, subfamily T,							194.0	209.0	204.0					1																	248737450		2102	4300	6402	SO:0001819	synonymous_variant	127068				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248737450G>T	BK004477	CCDS31120.1	1q44	2012-08-09			ENSG00000183310	ENSG00000183310		"""GPCR / Class A : Olfactory receptors"""	31256	protein-coding gene	gene with protein product							Standard	NM_001001821		Approved		uc001iep.1	Q8NGX1	OTTHUMG00000040387	ENST00000328782.2:c.609C>A	1.37:g.248737450G>T							p.L203L	NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	609	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		203			Helical; Name=5; (Potential).		B2RNJ8|Q6IEY5|Q96R31	Silent	SNP	ENST00000328782.2	37	c.609C>A	CCDS31120.1																																																																																				0.517	OR2T34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097138.1	NM_001001821		68	324	1	0	6.09e-36	9.1e-36	68	324				
OR14I1	401994	broad.mit.edu	37	1	248844884	248844884	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:248844884G>A	ENST00000342623.3	-	1	745	c.722C>T	c.(721-723)cCc>cTc	p.P241L		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						AATGAGCTGGGGGGAGCAGGT	0.468																																						uc001ieu.1		NA																	0					0						c.(721-723)CCC>CTC		olfactory receptor, family 14, subfamily I,							95.0	91.0	92.0					1																	248844884		2203	4300	6503	SO:0001583	missense	401994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248844884G>A		CCDS31125.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000189181	ENSG00000189181		"""GPCR / Class A : Olfactory receptors"""	19575	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BU, member 1"""	OR5BU1P, OR5BU1			Standard	NM_001004734		Approved		uc001ieu.1	A6ND48	OTTHUMG00000040378	ENST00000342623.3:c.722C>T	1.37:g.248844884G>A	ENSP00000339726:p.Pro241Leu						p.P241L	NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN			1	722	-			241			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000342623.3	37	c.722C>T	CCDS31125.1	.	.	.	.	.	.	.	.	.	.	.	21.3	4.124857	0.77436	.	.	ENSG00000189181	ENST00000342623	T	0.35789	1.29	3.49	3.49	0.39957	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45606	D	0.000343	T	0.63686	0.2532	M	0.88031	2.925	0.09310	N	0.999994	D	0.89917	1.0	D	0.85130	0.997	T	0.58634	-0.7602	10	0.87932	D	0	.	12.4817	0.55847	0.0:0.0:1.0:0.0	.	241	A6ND48	O14I1_HUMAN	L	241	ENSP00000339726:P241L	ENSP00000339726:P241L	P	-	2	0	OR14I1	246911507	0.890000	0.30428	0.005000	0.12908	0.451000	0.32288	6.712000	0.74681	1.744000	0.51775	0.543000	0.68304	CCC		0.468	OR14I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097128.1	NM_001004734		47	124	0	0	0	0	47	124				
DIP2C	22982	broad.mit.edu	37	10	394634	394634	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:394634G>A	ENST00000280886.6	-	26	3265	c.3178C>T	c.(3178-3180)Ccg>Tcg	p.P1060S		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1060						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TGTGGGTGCGGGGGACGGACG	0.542																																						uc001ifp.2		NA																	0				breast(4)|ovary(2)|large_intestine(1)	7						c.(3178-3180)CCG>TCG		DIP2 disco-interacting protein 2 homolog C							247.0	215.0	226.0					10																	394634		2203	4300	6503	SO:0001583	missense	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:394634G>A	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.3178C>T	10.37:g.394634G>A	ENSP00000280886:p.Pro1060Ser					DIP2C_uc009xhi.1_Missense_Mutation_p.P446S	p.P1060S	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	26	3268	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	1060					B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	c.3178C>T	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	G	32	5.190119	0.94923	.	.	ENSG00000151240	ENST00000280886	T	0.38240	1.15	5.61	5.61	0.85477	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.66096	0.2755	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69558	-0.5113	10	0.66056	D	0.02	-20.3345	19.6299	0.95698	0.0:0.0:1.0:0.0	.	1060	Q9Y2E4	DIP2C_HUMAN	S	1060	ENSP00000280886:P1060S	ENSP00000280886:P1060S	P	-	1	0	DIP2C	384634	1.000000	0.71417	0.965000	0.40720	0.754000	0.42855	9.860000	0.99555	2.640000	0.89533	0.563000	0.77884	CCG		0.542	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		152	165	0	0	0	0	152	165				
ASB13	79754	broad.mit.edu	37	10	5693182	5693182	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:5693182T>G	ENST00000357700.6	-	3	402	c.376A>C	c.(376-378)Atg>Ctg	p.M126L	ASB13_ENST00000479033.1_Intron	NM_024701.3	NP_078977.2	Q8WXK3	ASB13_HUMAN	ankyrin repeat and SOCS box containing 13	126					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					NS(1)|endometrium(3)|lung(3)|ovary(1)	8				GBM - Glioblastoma multiforme(2;9.59e-09)		TCACCGCTCATGCAGGCCTCG	0.612																																						uc001iig.2		NA																	0				ovary(1)	1						c.(376-378)ATG>CTG		ankyrin repeat and SOCS box-containing protein							64.0	69.0	67.0					10																	5693182		2203	4300	6503	SO:0001583	missense	79754				intracellular signal transduction		protein binding	g.chr10:5693182T>G	AK091935	CCDS7070.1	10p15.1	2013-01-10	2011-01-25		ENSG00000196372	ENSG00000196372		"""Ankyrin repeat domain containing"""	19765	protein-coding gene	gene with protein product		615055	"""ankyrin repeat and SOCS box-containing 13"""			12076535	Standard	NM_024701		Approved	FLJ13134, MGC19879	uc001iig.2	Q8WXK3	OTTHUMG00000017603	ENST00000357700.6:c.376A>C	10.37:g.5693182T>G	ENSP00000350331:p.Met126Leu					ASB13_uc001iii.2_Intron|ASB13_uc001iih.2_RNA|ASB13_uc009xic.2_Missense_Mutation_p.M126L	p.M126L	NM_024701	NP_078977	Q8WXK3	ASB13_HUMAN		GBM - Glioblastoma multiforme(2;9.59e-09)	3	420	-			126			ANK 4.		A8K7Q6|D3DRR2|Q96EP7|Q9H8Z1	Missense_Mutation	SNP	ENST00000357700.6	37	c.376A>C	CCDS7070.1	.	.	.	.	.	.	.	.	.	.	T	15.92	2.974150	0.53720	.	.	ENSG00000196372	ENST00000357700	T	0.63255	-0.03	4.77	4.77	0.60923	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.39708	0.1088	N	0.04686	-0.185	0.58432	D	0.999997	B;B	0.28713	0.22;0.188	B;B	0.30179	0.112;0.105	T	0.30794	-0.9966	10	0.13470	T	0.59	-26.7218	13.9566	0.64152	0.0:0.0:0.0:1.0	.	126;126	Q8WXK3-2;Q8WXK3	.;ASB13_HUMAN	L	126	ENSP00000350331:M126L	ENSP00000350331:M126L	M	-	1	0	ASB13	5733188	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	5.787000	0.69013	1.782000	0.52362	0.459000	0.35465	ATG		0.612	ASB13-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046564.1			31	211	0	0	0	0	31	211				
ITIH2	3698	broad.mit.edu	37	10	7773950	7773950	+	Silent	SNP	G	G	A	rs150260189		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:7773950G>A	ENST00000358415.4	+	13	1804	c.1638G>A	c.(1636-1638)acG>acA	p.T546T	ITIH2_ENST00000379587.4_Silent_p.T535T	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	546					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GCGTTATCACGGCGACTTCGG	0.438																																						uc001ijs.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1636-1638)ACG>ACA		inter-alpha globulin inhibitor H2 polypeptide							127.0	119.0	122.0					10																	7773950		2203	4300	6503	SO:0001819	synonymous_variant	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7773950G>A	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.1638G>A	10.37:g.7773950G>A							p.T546T	NM_002216	NP_002207	P19823	ITIH2_HUMAN			13	1800	+			546					Q14659|Q15484|Q5T986	Silent	SNP	ENST00000358415.4	37	c.1638G>A	CCDS31141.1																																																																																				0.438	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		14	148	0	0	0	0	14	148				
PTER	9317	broad.mit.edu	37	10	16526679	16526679	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:16526679C>A	ENST00000378000.1	+	3	542	c.296C>A	c.(295-297)aCa>aAa	p.T99K	PTER_ENST00000298942.3_Missense_Mutation_p.T99K|PTER_ENST00000535784.2_Missense_Mutation_p.T99K|PTER_ENST00000423462.2_Missense_Mutation_p.T99K	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	99					catabolic process (GO:0009056)|epithelial cell differentiation (GO:0030855)	extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						GTGGAAAACACAACCACTGGG	0.443																																					Ovarian(2;46 150 15648 38137 47908)	uc001iog.1		NA																	0				ovary(2)	2						c.(295-297)ACA>AAA		phosphotriesterase related							72.0	76.0	75.0					10																	16526679		2203	4300	6503	SO:0001583	missense	9317				catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding	g.chr10:16526679C>A	BC015092	CCDS7111.1, CCDS58070.1, CCDS73070.1	10p12	2003-11-05			ENSG00000165983	ENSG00000165983			9590	protein-coding gene	gene with protein product		604446				9925913	Standard	NM_001001484		Approved		uc001ioi.2	Q96BW5	OTTHUMG00000017737	ENST00000378000.1:c.296C>A	10.37:g.16526679C>A	ENSP00000367239:p.Thr99Lys					PTER_uc001ioh.1_Missense_Mutation_p.T99K|PTER_uc001ioi.1_Missense_Mutation_p.T99K|PTER_uc009xjp.1_Missense_Mutation_p.T99K	p.T99K	NM_030664	NP_109589	Q96BW5	PTER_HUMAN			3	503	+			99					B0YJ77|B3KTF5|D3DRU0|Q9BY46	Missense_Mutation	SNP	ENST00000378000.1	37	c.296C>A	CCDS7111.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.603682	0.87157	.	.	ENSG00000165983	ENST00000343656;ENST00000535784;ENST00000423462;ENST00000378000;ENST00000298942	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.81536	0.4843	H	0.94264	3.515	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79784	0.991;0.993	D	0.86131	0.1575	10	0.87932	D	0	-21.479	19.8932	0.96939	0.0:1.0:0.0:0.0	.	99;99	Q96BW5-2;Q96BW5	.;PTER_HUMAN	K	99	ENSP00000439485:T99K;ENSP00000389535:T99K;ENSP00000367239:T99K;ENSP00000298942:T99K	ENSP00000298942:T99K	T	+	2	0	PTER	16566685	1.000000	0.71417	0.960000	0.40013	0.904000	0.53231	5.999000	0.70665	2.698000	0.92095	0.655000	0.94253	ACA		0.443	PTER-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047001.2	NM_030664		15	104	1	0	1.15e-07	1.39e-07	15	104				
CUBN	8029	broad.mit.edu	37	10	16955852	16955852	+	Silent	SNP	C	C	A	rs189314395	byFrequency	TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:16955852C>A	ENST00000377833.4	-	48	7556	c.7491G>T	c.(7489-7491)ctG>ctT	p.L2497L		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2497	CUB 18. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGGCCAGCCTCAGGTTGTTAA	0.517																																						uc001ioo.2		NA																	0				ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(7489-7491)CTG>CTT		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						146.0	131.0	136.0					10																	16955852		2203	4300	6503	SO:0001819	synonymous_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16955852C>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.7491G>T	10.37:g.16955852C>A							p.L2497L	NM_001081	NP_001072	O60494	CUBN_HUMAN			48	7543	-			2497			CUB 18.		B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	c.7491G>T	CCDS7113.1																																																																																				0.517	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		43	261	1	0	2.01e-17	2.76e-17	43	261				
CUBN	8029	broad.mit.edu	37	10	17032445	17032445	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:17032445G>T	ENST00000377833.4	-	29	4303	c.4238C>A	c.(4237-4239)cCa>cAa	p.P1413Q		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1413	CUB 9. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTCCTTGTTTGGTGGATACCT	0.512																																						uc001ioo.2		NA																	0				ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(4237-4239)CCA>CAA		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						128.0	123.0	125.0					10																	17032445		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17032445G>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.4238C>A	10.37:g.17032445G>T	ENSP00000367064:p.Pro1413Gln						p.P1413Q	NM_001081	NP_001072	O60494	CUBN_HUMAN			29	4290	-			1413			CUB 9.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.4238C>A	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	6.880	0.531749	0.13127	.	.	ENSG00000107611	ENST00000377833	T	0.30981	1.51	5.77	4.79	0.61399	CUB (5);	0.747973	0.11427	N	0.565169	T	0.37404	0.1002	M	0.82433	2.59	0.21064	N	0.999791	P	0.39920	0.695	B	0.40410	0.328	T	0.30208	-0.9986	10	0.13108	T	0.6	.	9.3225	0.37973	0.0:0.1279:0.435:0.4372	.	1413	O60494	CUBN_HUMAN	Q	1413	ENSP00000367064:P1413Q	ENSP00000367064:P1413Q	P	-	2	0	CUBN	17072451	0.110000	0.22057	0.763000	0.31416	0.614000	0.37383	2.128000	0.42045	1.201000	0.43203	0.655000	0.94253	CCA		0.512	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		24	143	1	0	3.67e-16	4.97e-16	24	143				
VIM	7431	broad.mit.edu	37	10	17275622	17275622	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:17275622G>C	ENST00000224237.5	+	3	806	c.661G>C	c.(661-663)Gaa>Caa	p.E221Q	VIM_ENST00000544301.1_Missense_Mutation_p.E221Q|RP11-124N14.3_ENST00000456355.1_RNA			P08670	VIME_HUMAN	vimentin	221	Coil 1B.|Rod.				apoptotic process (GO:0006915)|astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular component movement (GO:0006928)|intermediate filament organization (GO:0045109)|lens fiber cell development (GO:0070307)|muscle filament sliding (GO:0030049)|negative regulation of neuron projection development (GO:0010977)|positive regulation of gene expression (GO:0010628)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|neuron projection (GO:0043005)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	double-stranded RNA binding (GO:0003725)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCTTGACCTTGAACGCAAAGT	0.423																																						uc001iou.2		NA																	0				large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(661-663)GAA>CAA		vimentin							86.0	78.0	81.0					10																	17275622		2203	4300	6503	SO:0001583	missense	7431				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton	g.chr10:17275622G>C	M14144	CCDS7120.1	10p13	2013-01-16			ENSG00000026025	ENSG00000026025		"""Intermediate filaments type III"""	12692	protein-coding gene	gene with protein product		193060					Standard	NM_003380		Approved		uc001iou.2	P08670	OTTHUMG00000017744	ENST00000224237.5:c.661G>C	10.37:g.17275622G>C	ENSP00000224237:p.Glu221Gln					VIM_uc001iov.1_Missense_Mutation_p.E221Q|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Missense_Mutation_p.E221Q|VIM_uc001ioy.1_Missense_Mutation_p.E221Q|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Missense_Mutation_p.E221Q|VIM_uc001ipc.1_Missense_Mutation_p.E221Q	p.E221Q	NM_003380	NP_003371	P08670	VIME_HUMAN			4	1074	+			221			Rod.|Coil 1B.		B0YJC2|D3DRU4|Q15867|Q15868|Q15869|Q548L2|Q6LER9|Q8N850|Q96ML2|Q9NTM3	Missense_Mutation	SNP	ENST00000224237.5	37	c.661G>C	CCDS7120.1	.	.	.	.	.	.	.	.	.	.	G	35	5.580360	0.96565	.	.	ENSG00000026025	ENST00000544301;ENST00000224237;ENST00000545533;ENST00000421459	D;D;D	0.92397	-3.03;-3.03;-3.03	6.14	6.14	0.99180	Filament (1);	0.000000	0.47455	D	0.000240	D	0.96497	0.8857	M	0.82517	2.595	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.994;0.999;0.999;1.0	D;D;D;D;D	0.77557	0.99;0.948;0.955;0.955;0.99	D	0.95172	0.8291	10	0.44086	T	0.13	.	20.819	0.99723	0.0:0.0:1.0:0.0	.	221;208;208;221;221	Q53HU8;F5H288;B3KRK8;B0YJC4;P08670	.;.;.;.;VIME_HUMAN	Q	221;221;208;47	ENSP00000446007:E221Q;ENSP00000224237:E221Q;ENSP00000391842:E47Q	ENSP00000224237:E221Q	E	+	1	0	VIM	17315628	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.789000	0.99068	2.927000	0.99377	0.637000	0.83480	GAA		0.423	VIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047015.1	NM_003380		60	81	0	0	0	0	60	81				
SLC39A12	221074	broad.mit.edu	37	10	18250541	18250541	+	Missense_Mutation	SNP	C	C	A	rs150700069		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:18250541C>A	ENST00000377369.2	+	3	566	c.293C>A	c.(292-294)gCt>gAt	p.A98D	SLC39A12_ENST00000377374.4_Missense_Mutation_p.A98D|SLC39A12_ENST00000539911.1_5'UTR|SLC39A12_ENST00000377371.3_Missense_Mutation_p.A98D	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	98					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TTACTAATAGCTGGAGGAAAT	0.358																																						uc001ipo.2		NA																	0				ovary(1)|breast(1)	2						c.(292-294)GCT>GAT		solute carrier family 39 (zinc transporter),							77.0	81.0	79.0					10																	18250541		2203	4300	6503	SO:0001583	missense	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18250541C>A		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.293C>A	10.37:g.18250541C>A	ENSP00000366586:p.Ala98Asp					SLC39A12_uc001ipn.2_Missense_Mutation_p.A98D|SLC39A12_uc001ipp.2_Missense_Mutation_p.A98D|SLC39A12_uc010qck.1_Translation_Start_Site	p.A98D	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN			3	566	+			98			Extracellular (Potential).		B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	ENST00000377369.2	37	c.293C>A	CCDS44362.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.971359	0.74246	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000425219	T;T;T	0.22743	1.94;1.94;1.94	5.43	5.43	0.79202	.	0.426003	0.26248	N	0.025478	T	0.44623	0.1302	M	0.72118	2.19	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76575	0.988;0.972;0.988	T	0.35871	-0.9771	10	0.66056	D	0.02	-15.4077	12.5695	0.56328	0.0:0.9239:0.0:0.0761	.	98;98;98	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	D	98;98;98;18	ENSP00000366586:A98D;ENSP00000366591:A98D;ENSP00000366588:A98D	ENSP00000366586:A98D	A	+	2	0	SLC39A12	18290547	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.295000	0.51794	2.537000	0.85549	0.650000	0.86243	GCT		0.358	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		89	84	1	0	6.32e-53	9.63e-53	89	84				
MKX	283078	broad.mit.edu	37	10	28030397	28030397	+	Silent	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:28030397C>T	ENST00000375790.5	-	3	657	c.225G>A	c.(223-225)cgG>cgA	p.R75R	MKX_ENST00000419761.1_Silent_p.R75R			Q8IYA7	MKX_HUMAN	mohawk homeobox	75					collagen fibril organization (GO:0030199)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|positive regulation of collagen biosynthetic process (GO:0032967)|tendon cell differentiation (GO:0035990)|tendon sheath development (GO:0002932)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						GCAGGGCCTGCCGCTTGTGCC	0.662																																						uc001ity.3		NA																	0				ovary(1)	1						c.(223-225)CGG>CGA		mohawk homeobox							87.0	62.0	70.0					10																	28030397		2203	4300	6503	SO:0001819	synonymous_variant	283078				muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:28030397C>T	BC036207	CCDS7156.1	10p12.1	2011-06-20	2006-03-31	2006-03-31	ENSG00000150051	ENSG00000150051		"""Homeoboxes / TALE class"""	23729	protein-coding gene	gene with protein product		601332	"""chromosome 10 open reading frame 48"", ""iroquois homeobox protein-like 1"""	C10orf48, IRXL1		16408284	Standard	NM_173576		Approved	MGC39616	uc001itx.4	Q8IYA7	OTTHUMG00000017862	ENST00000375790.5:c.225G>A	10.37:g.28030397C>T						MKX_uc001itx.3_Silent_p.R75R	p.R75R	NM_173576	NP_775847	Q8IYA7	MKX_HUMAN			3	450	-			75			Homeobox; TALE-type.		B3KWM5	Silent	SNP	ENST00000375790.5	37	c.225G>A	CCDS7156.1																																																																																				0.662	MKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047332.3	NM_173576		4	58	0	0	0	0	4	58				
SVIL	6840	broad.mit.edu	37	10	29762806	29762806	+	Silent	SNP	C	C	G	rs139597633		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:29762806C>G	ENST00000355867.4	-	30	6242	c.5490G>C	c.(5488-5490)gcG>gcC	p.A1830A	SVIL_ENST00000375400.3_Silent_p.A1404A|SVIL_ENST00000375398.2_Silent_p.A1830A|PTCHD3P1_ENST00000446807.1_RNA|SVIL_ENST00000535393.1_Silent_p.A744A|SVIL_ENST00000460007.1_5'UTR|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000414457.1_RNA	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1830					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CCGTCATCAGCGCCGACGTGC	0.647																																						uc001iut.1		NA																	0				ovary(5)|upper_aerodigestive_tract(1)	6						c.(5488-5490)GCG>GCC		supervillin isoform 2							57.0	50.0	53.0					10																	29762806		2203	4300	6503	SO:0001819	synonymous_variant	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29762806C>G	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.5490G>C	10.37:g.29762806C>G						LOC387647_uc001iup.2_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Silent_p.A744A|SVIL_uc001iuu.1_Silent_p.A1404A	p.A1830A	NM_021738	NP_068506	O95425	SVIL_HUMAN			30	6243	-		Breast(68;0.103)	1830			Gelsolin-like 3.		D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Silent	SNP	ENST00000355867.4	37	c.5490G>C	CCDS7164.1																																																																																				0.647	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			24	80	0	0	0	0	24	80				
MAPK8	5599	broad.mit.edu	37	10	49632604	49632604	+	Intron	SNP	G	G	T	rs139339988		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:49632604G>T	ENST00000374189.1	+	7	869				MAPK8_ENST00000360332.3_Intron|MAPK8_ENST00000374182.3_Intron|MAPK8_ENST00000374174.1_Intron|MAPK8_ENST00000395611.3_Intron			P45983	MK08_HUMAN	mitogen-activated protein kinase 8						apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nitric oxide (GO:0071732)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of gene expression (GO:0010628)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|programmed necrotic cell death (GO:0097300)|regulation of histone deacetylation (GO:0031063)|regulation of protein localization (GO:0032880)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to cadmium ion (GO:0046686)|response to stress (GO:0006950)|response to UV (GO:0009411)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|JUN kinase activity (GO:0004705)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		GATCAAAGGTGGTGTTTTGTT	0.343																																						uc009xnz.2		NA																	0				central_nervous_system(3)|lung(2)|stomach(1)|ovary(1)|kidney(1)	8						c.(664-666)GGT>TGT		mitogen-activated protein kinase 8 isoform JNK1							206.0	190.0	195.0					10																	49632604		2203	4300	6503	SO:0001627	intron_variant	5599				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding	g.chr10:49632604G>T	L26318	CCDS7223.1, CCDS7224.1, CCDS7225.1, CCDS7226.1, CCDS60527.1	10q11	2011-06-09			ENSG00000107643	ENSG00000107643	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6881	protein-coding gene	gene with protein product	"""JUN N-terminal kinase"""	601158		PRKM8		8137421, 8654373	Standard	NM_002750		Approved	JNK, JNK1, SAPK1	uc001jgp.3	P45983	OTTHUMG00000018172	ENST00000374189.1:c.688+402G>T	10.37:g.49632604G>T						MAPK8_uc001jgl.2_Missense_Mutation_p.G222C|MAPK8_uc001jgm.2_Missense_Mutation_p.G222C|MAPK8_uc001jgo.2_Missense_Mutation_p.G222C|MAPK8_uc009xoa.2_Intron|MAPK8_uc001jgn.2_Missense_Mutation_p.G222C|MAPK8_uc010qgk.1_Missense_Mutation_p.G222C|MAPK8_uc001jgp.2_Intron|MAPK8_uc001jgq.2_Intron	p.G222C	NM_139047	NP_620635	P45983	MK08_HUMAN		Epithelial(53;3.46e-65)|Lung(62;0.125)	7	888	+		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)	222			Protein kinase.		B5BTZ5|B7ZLV4|D3DX88|D3DX92|Q15709|Q15712|Q15713|Q308M2	Missense_Mutation	SNP	ENST00000374189.1	37	c.664G>T	CCDS7224.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.159658	0.38119	.	.	ENSG00000107643	ENST00000374179;ENST00000374176	T;T	0.65916	-0.18;-0.18	5.68	5.68	0.88126	.	1.202750	0.05355	N	0.532666	T	0.58836	0.2150	N	0.24115	0.695	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.10450	0.005;0.003	T	0.17501	-1.0367	10	0.46703	T	0.11	.	20.1412	0.98058	0.0:0.0:1.0:0.0	.	222;222	A1L4K2;P45983-3	.;.	C	222	ENSP00000363294:G222C;ENSP00000363291:G222C	ENSP00000363291:G222C	G	+	1	0	MAPK8	49302610	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.197000	0.77814	2.838000	0.97847	0.585000	0.79938	GGT		0.343	MAPK8-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047931.1			73	103	1	0	9.1e-53	1.39e-52	73	103				
RTKN2	219790	broad.mit.edu	37	10	63964747	63964747	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:63964747T>C	ENST00000373789.3	-	10	1151	c.1055A>G	c.(1054-1056)aAg>aGg	p.K352R	RTKN2_ENST00000395265.1_Missense_Mutation_p.K373R|RTKN2_ENST00000315289.2_Missense_Mutation_p.K154R	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	352	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					GATTCTTTTCTTGGCATCCTT	0.348																																						uc001jlw.2		NA																	0					0						c.(1054-1056)AAG>AGG		rhotekin 2							99.0	100.0	100.0					10																	63964747		2203	4300	6503	SO:0001583	missense	219790				signal transduction	intracellular		g.chr10:63964747T>C	BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"""Pleckstrin homology (PH) domain containing"""	19364	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family K member 1"""	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.1055A>G	10.37:g.63964747T>C	ENSP00000362894:p.Lys352Arg					RTKN2_uc009xpf.1_Missense_Mutation_p.K154R|RTKN2_uc001jlv.2_Missense_Mutation_p.K6R	p.K352R	NM_145307	NP_660350	Q8IZC4	RTKN2_HUMAN			10	1152	-	Prostate(12;0.0297)|all_hematologic(501;0.215)		352			PH.		Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Missense_Mutation	SNP	ENST00000373789.3	37	c.1055A>G	CCDS7263.1	.	.	.	.	.	.	.	.	.	.	T	10.03	1.239578	0.22711	.	.	ENSG00000182010	ENST00000315289;ENST00000395265;ENST00000373789	T;T;T	0.78003	-1.14;-1.14;-1.14	5.11	3.95	0.45737	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.221024	0.46758	D	0.000278	T	0.69369	0.3103	L	0.47716	1.5	0.30441	N	0.776213	P;P	0.43938	0.772;0.822	B;B	0.40982	0.345;0.341	T	0.64905	-0.6297	10	0.17369	T	0.5	-10.5161	12.0405	0.53450	0.0:0.0:0.1446:0.8554	.	154;352	Q5SVY4;Q8IZC4	.;RTKN2_HUMAN	R	154;373;352	ENSP00000325379:K154R;ENSP00000378682:K373R;ENSP00000362894:K352R	ENSP00000325379:K154R	K	-	2	0	RTKN2	63634753	1.000000	0.71417	0.999000	0.59377	0.445000	0.32107	4.316000	0.59178	0.782000	0.33613	0.528000	0.53228	AAG		0.348	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091618.1	NM_145307		30	77	0	0	0	0	30	77				
JMJD1C	221037	broad.mit.edu	37	10	64967944	64967944	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:64967944T>A	ENST00000399262.2	-	10	3703	c.3485A>T	c.(3484-3486)aAg>aTg	p.K1162M	JMJD1C_ENST00000542921.1_Missense_Mutation_p.K980M|JMJD1C_ENST00000402544.1_Missense_Mutation_p.K943M|JMJD1C_ENST00000399251.1_Missense_Mutation_p.K943M	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1162					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTCTGGTATCTTGCCTACTAA	0.393																																						uc001jmn.2		NA																	0				ovary(4)|breast(1)|central_nervous_system(1)	6						c.(3484-3486)AAG>ATG		jumonji domain containing 1C isoform a							197.0	186.0	190.0					10																	64967944		1933	4146	6079	SO:0001583	missense	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64967944T>A	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.3485A>T	10.37:g.64967944T>A	ENSP00000382204:p.Lys1162Met					JMJD1C_uc001jml.2_Missense_Mutation_p.K943M|JMJD1C_uc001jmm.2_Missense_Mutation_p.K874M|JMJD1C_uc010qiq.1_Missense_Mutation_p.K980M|JMJD1C_uc009xpi.2_Missense_Mutation_p.K980M|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_Missense_Mutation_p.K199M	p.K1162M	NM_032776	NP_116165	Q15652	JHD2C_HUMAN			10	3785	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		1162					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	c.3485A>T	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	T	17.95	3.514346	0.64522	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	T;T;T;T	0.70399	-0.13;-0.48;1.29;-0.12	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.82440	0.5037	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.84157	0.0426	10	0.72032	D	0.01	-14.2655	15.9704	0.80013	0.0:0.0:0.0:1.0	.	703;1162;980	A6PW35;Q15652;A0T124	.;JHD2C_HUMAN;.	M	1162;943;943;980	ENSP00000382204:K1162M;ENSP00000384990:K943M;ENSP00000382195:K943M;ENSP00000444682:K980M	ENSP00000382195:K943M	K	-	2	0	JMJD1C	64637950	1.000000	0.71417	0.935000	0.37517	0.974000	0.67602	8.040000	0.89188	2.165000	0.68154	0.460000	0.39030	AAG		0.393	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		83	147	0	0	0	0	83	147				
LRIT2	340745	broad.mit.edu	37	10	85984691	85984691	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:85984691C>G	ENST00000372113.4	-	2	295	c.290G>C	c.(289-291)gGa>gCa	p.G97A	LRIT2_ENST00000538192.1_Missense_Mutation_p.G97A	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	97						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						TTCCAGGGCTCCTAGGTGGAT	0.517																																						uc001kcy.2		NA																	0				ovary(2)	2						c.(289-291)GGA>GCA		leucine rich repeat containing 22 precursor							136.0	126.0	130.0					10																	85984691		2203	4300	6503	SO:0001583	missense	340745					integral to membrane		g.chr10:85984691C>G		CCDS31234.1, CCDS60581.1	10q23.2	2013-01-11	2007-06-19	2007-06-19	ENSG00000204033	ENSG00000204033		"""Immunoglobulin superfamily / I-set domain containing"""	23443	protein-coding gene	gene with protein product			"""leucine rich repeat containing 22"""	LRRC22			Standard	NM_001017924		Approved	AC022389.4	uc001kcy.3	A6NDA9	OTTHUMG00000018633	ENST00000372113.4:c.290G>C	10.37:g.85984691C>G	ENSP00000361185:p.Gly97Ala					LRIT2_uc010qmc.1_Missense_Mutation_p.G97A	p.G97A	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN			2	298	-			97			LRR 1.		B7ZME6	Missense_Mutation	SNP	ENST00000372113.4	37	c.290G>C	CCDS31234.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.766994	0.31320	.	.	ENSG00000204033	ENST00000372113;ENST00000538192	T;T	0.59224	0.28;0.28	5.32	3.46	0.39613	.	0.167398	0.50627	D	0.000106	T	0.60196	0.2250	M	0.61387	1.9	0.31068	N	0.713384	D;D	0.57571	0.98;0.98	P;P	0.57846	0.828;0.828	T	0.58853	-0.7563	10	0.12103	T	0.63	.	6.0319	0.19684	0.0:0.6603:0.0:0.3397	.	97;97	B7ZME6;A6NDA9	.;LRIT2_HUMAN	A	97	ENSP00000361185:G97A;ENSP00000438264:G97A	ENSP00000361185:G97A	G	-	2	0	LRIT2	85974671	0.997000	0.39634	0.981000	0.43875	0.274000	0.26718	1.926000	0.40084	1.250000	0.43966	0.650000	0.86243	GGA		0.517	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049110.4	XM_291697		58	168	0	0	0	0	58	168				
RGR	5995	broad.mit.edu	37	10	86014184	86014184	+	Missense_Mutation	SNP	G	G	T	rs372173241		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:86014184G>T	ENST00000359452.4	+	5	665	c.627G>T	c.(625-627)aaG>aaT	p.K209N	RGR_ENST00000358110.5_Missense_Mutation_p.K205N	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor	205					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						AACTGGGGAAGAGTGGCCATC	0.527																																					NSCLC(15;204 545 5889 6385 32445)	uc001kdc.1		NA																	0				ovary(1)	1						c.(613-615)AAG>AAT		retinal G-protein coupled receptor isoform 2							109.0	98.0	102.0					10																	86014184		2203	4300	6503	SO:0001583	missense	5995				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding	g.chr10:86014184G>T	BC011349	CCDS7374.1, CCDS41543.1	10q23	2013-02-14			ENSG00000148604	ENSG00000148604		"""GPCR / Class A : Opsin receptors"""	9990	protein-coding gene	gene with protein product	"""RGR-opsin"""	600342				8641686	Standard	NM_002921		Approved	RP44	uc001kdd.1	P47804	OTTHUMG00000018636	ENST00000359452.4:c.627G>T	10.37:g.86014184G>T	ENSP00000352427:p.Lys209Asn					RGR_uc001kdd.1_Missense_Mutation_p.K209N|RGR_uc001kde.1_Missense_Mutation_p.K205N	p.K205N	NM_001012720	NP_001012738	P47804	RGR_HUMAN			5	653	+			205			Cytoplasmic (Potential).		A6NKK7|Q96FC5	Missense_Mutation	SNP	ENST00000359452.4	37	c.615G>T	CCDS7374.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.322473	0.60634	.	.	ENSG00000148604	ENST00000359452;ENST00000358110	T;T	0.42131	0.98;0.98	5.11	2.27	0.28462	GPCR, rhodopsin-like superfamily (1);	0.135914	0.64402	D	0.000003	T	0.51381	0.1671	M	0.70842	2.15	0.42485	D	0.992874	P;D;P	0.59357	0.907;0.985;0.592	P;P;P	0.58660	0.568;0.843;0.601	T	0.49670	-0.8915	10	0.45353	T	0.12	.	5.9379	0.19175	0.4336:0.0:0.5664:0.0	.	205;209;205	P47804-3;P47804-2;P47804	.;.;RGR_HUMAN	N	209;205	ENSP00000352427:K209N;ENSP00000350823:K205N	ENSP00000350823:K205N	K	+	3	2	RGR	86004164	1.000000	0.71417	0.002000	0.10522	0.021000	0.10359	3.372000	0.52387	0.827000	0.34685	-0.254000	0.11334	AAG		0.527	RGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049116.1	NM_002921		18	77	1	0	2.35e-11	3.02e-11	18	77				
CYP2C18	1562	broad.mit.edu	37	10	96495160	96495160	+	Missense_Mutation	SNP	C	C	A	rs577595661		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:96495160C>A	ENST00000285979.6	+	9	1631	c.1432C>A	c.(1432-1434)Cgt>Agt	p.R478S	CYP2C19_ENST00000464755.1_Intron|CYP2C18_ENST00000339022.5_Missense_Mutation_p.R419S	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	478					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	TGCATTTGGTCGTGTGCCACC	0.478																																						uc001kjv.3		NA																	0		p.R478L(1)		ovary(3)|lung(1)|skin(1)	5						c.(1432-1434)CGT>AGT		cytochrome P450 family 2 subfamily C polypeptide							223.0	202.0	209.0					10																	96495160		2203	4300	6503	SO:0001583	missense	1562				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr10:96495160C>A	M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"""Cytochrome P450s"""	2620	protein-coding gene	gene with protein product		601131	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"""	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.1432C>A	10.37:g.96495160C>A	ENSP00000285979:p.Arg478Ser					CYP2C18_uc001kjw.3_Missense_Mutation_p.R419S|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.1_Intron	p.R478S	NM_000772	NP_000763	P33260	CP2CI_HUMAN		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	9	1758	+		Colorectal(252;0.09)	478					B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Missense_Mutation	SNP	ENST00000285979.6	37	c.1432C>A	CCDS7435.1	.	.	.	.	.	.	.	.	.	.	c	0.038	-1.295638	0.01375	.	.	ENSG00000108242	ENST00000339022;ENST00000285979	T;T	0.68765	-0.35;-0.35	3.99	-4.57	0.03421	.	0.633137	0.14342	N	0.325631	T	0.19087	0.0458	N	0.00339	-1.615	0.09310	N	1	B;B	0.11235	0.0;0.004	B;B	0.10450	0.001;0.005	T	0.44236	-0.9341	10	0.02654	T	1	.	5.1396	0.14952	0.209:0.201:0.0:0.59	.	419;478	Q4VAT5;P33260	.;CP2CI_HUMAN	S	419;478	ENSP00000341293:R419S;ENSP00000285979:R478S	ENSP00000285979:R478S	R	+	1	0	CYP2C18	96485150	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.089000	0.11180	-0.631000	0.05560	-0.384000	0.06662	CGT		0.478	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049486.1	NM_000772		41	155	1	0	1.32e-16	1.8e-16	41	155				
ZDHHC16	84287	broad.mit.edu	37	10	99215802	99215802	+	Splice_Site	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:99215802G>C	ENST00000370854.3	+	10	1208		c.e10+1		ZDHHC16_ENST00000370846.4_Splice_Site|ZDHHC16_ENST00000352634.4_Splice_Site|ZDHHC16_ENST00000353979.3_Splice_Site|ZDHHC16_ENST00000370842.2_Splice_Site|ZDHHC16_ENST00000495735.1_Splice_Site|ZDHHC16_ENST00000345745.5_Splice_Site|ZDHHC16_ENST00000393760.1_Splice_Site	NM_032327.2	NP_115703.2	Q969W1	ZDH16_HUMAN	zinc finger, DHHC-type containing 16						apoptotic process (GO:0006915)|protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		ATACAGGAAGGTAATGTAAGA	0.438																																						uc001knj.2		NA																	0				ovary(1)	1						c.e11+1		Abl-philin 2 isoform 1							99.0	93.0	95.0					10																	99215802		2203	4300	6503	SO:0001630	splice_region_variant	84287				apoptosis	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding	g.chr10:99215802G>C	AF258563	CCDS7460.1, CCDS7461.1, CCDS7462.1, CCDS7463.1, CCDS73176.1	10q24.1	2008-05-02			ENSG00000171307	ENSG00000171307		"""Zinc fingers, DHHC-type"""	20714	protein-coding gene	gene with protein product						12021275	Standard	NM_198043		Approved	APH2	uc001knk.3	Q969W1	OTTHUMG00000018847	ENST00000370854.3:c.1019+1G>C	10.37:g.99215802G>C						ZDHHC16_uc001knp.2_Splice_Site_p.R270_splice|ZDHHC16_uc001knk.2_Splice_Site_p.R340_splice|ZDHHC16_uc001knl.2_Splice_Site_p.R324_splice|ZDHHC16_uc001knm.2_Splice_Site_p.R259_splice|ZDHHC16_uc001knn.2_Splice_Site_p.R301_splice|ZDHHC16_uc010qow.1_Splice_Site_p.R322_splice|ZDHHC16_uc009xvq.2_Splice_Site|ZDHHC16_uc001kno.2_Splice_Site_p.R306_splice|ZDHHC16_uc009xvr.2_Splice_Site_p.R331_splice	p.R340_splice	NM_198046	NP_932163	Q969W1	ZDH16_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)	11	1368	+		Colorectal(252;0.0846)						D3DR52|D3DR53|D3DR54|Q5JTG7|Q5JTH0|Q8N4Z6|Q8WY84|Q9BSV3	Splice_Site	SNP	ENST00000370854.3	37	c.1019_splice	CCDS7460.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.227985	0.79576	.	.	ENSG00000171307	ENST00000370854;ENST00000393760;ENST00000370846;ENST00000352634;ENST00000353979;ENST00000370842;ENST00000345745;ENST00000420089;ENST00000417044	.	.	.	5.99	5.99	0.97316	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4574	0.99148	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZDHHC16	99205792	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	9.824000	0.99380	2.843000	0.97960	0.591000	0.81541	.		0.438	ZDHHC16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049658.2	NM_032327	Intron	14	58	0	0	0	0	14	58				
HPSE2	60495	broad.mit.edu	37	10	100219421	100219421	+	Silent	SNP	A	A	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:100219421A>T	ENST00000370552.3	-	12	1748	c.1689T>A	c.(1687-1689)ctT>ctA	p.L563L	HPSE2_ENST00000370549.1_Silent_p.L505L|HPSE2_ENST00000370546.1_3'UTR|HPSE2_ENST00000404542.1_Silent_p.L451L	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	563					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		GGCCGGCCCGAAGGGGGCGGG	0.557																																						uc001kpn.1		NA																	0				ovary(1)	1						c.(1687-1689)CTT>CTA		heparanase 2							44.0	46.0	45.0					10																	100219421		2203	4300	6503	SO:0001819	synonymous_variant	60495				carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity	g.chr10:100219421A>T	AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"""urofacial syndrome"", ""heparanase 2"""	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.1689T>A	10.37:g.100219421A>T						HPSE2_uc009xwc.1_3'UTR|HPSE2_uc001kpo.1_Silent_p.L495L|HPSE2_uc009xwd.1_Silent_p.L441L	p.L563L	NM_021828	NP_068600	Q8WWQ2	HPSE2_HUMAN		Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)	12	1749	-			563					Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Silent	SNP	ENST00000370552.3	37	c.1689T>A	CCDS7477.1																																																																																				0.557	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049789.1	NM_021828		14	40	0	0	0	0	14	40				
DNMBP	23268	broad.mit.edu	37	10	101658519	101658519	+	Splice_Site	SNP	T	T	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:101658519T>C	ENST00000324109.4	-	8	2794		c.e8-2		DNMBP_ENST00000543621.1_Splice_Site|DNMBP_ENST00000540316.1_5'Flank|DNMBP_ENST00000342239.3_Splice_Site	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein						intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TATAGGCTCCTGCAAGGCAGT	0.368																																						uc001kqj.2		NA																	0				ovary(5)|skin(1)	6						c.e8-1		dynamin binding protein							151.0	148.0	149.0					10																	101658519		2203	4300	6503	SO:0001630	splice_region_variant	23268				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr10:101658519T>C	AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.2703-2A>G	10.37:g.101658519T>C						DNMBP_uc010qpl.1_5'Flank|DNMBP_uc001kqg.2_Splice_Site_p.K189_splice|DNMBP_uc001kqh.2_Splice_Site_p.K533_splice	p.K901_splice	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	8	2795	-		Colorectal(252;0.234)						Q8IVY3|Q9Y2L3	Splice_Site	SNP	ENST00000324109.4	37	c.2703_splice	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	T	9.522	1.108601	0.20714	.	.	ENSG00000107554	ENST00000342239;ENST00000324109;ENST00000543621;ENST00000422692	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7476	0.62885	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	DNMBP	101648509	1.000000	0.71417	0.931000	0.37212	0.017000	0.09413	4.821000	0.62679	2.051000	0.60960	0.459000	0.35465	.		0.368	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221	Intron	42	120	0	0	0	0	42	120				
SORCS3	22986	broad.mit.edu	37	10	106675638	106675638	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:106675638G>A	ENST00000369701.3	+	3	970	c.743G>A	c.(742-744)gGt>gAt	p.G248D		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	248					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GACAAAGTGGGTTTGAAGACT	0.468																																					NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1		NA																	0				ovary(6)|skin(3)|central_nervous_system(1)	10						c.(742-744)GGT>GAT		VPS10 domain receptor protein SORCS 3 precursor							168.0	145.0	153.0					10																	106675638		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106675638G>A	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.743G>A	10.37:g.106675638G>A	ENSP00000358715:p.Gly248Asp						p.G248D	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	3	970	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	248			Lumenal (Potential).		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.743G>A	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.775173	0.90108	.	.	ENSG00000156395	ENST00000369701	T	0.32515	1.45	5.49	5.49	0.81192	VPS10 (1);	0.055638	0.64402	D	0.000001	T	0.45816	0.1361	L	0.28400	0.85	0.80722	D	1	D	0.69078	0.997	D	0.69307	0.963	T	0.43130	-0.9410	10	0.66056	D	0.02	.	19.369	0.94477	0.0:0.0:1.0:0.0	.	248	Q9UPU3	SORC3_HUMAN	D	248	ENSP00000358715:G248D	ENSP00000358715:G248D	G	+	2	0	SORCS3	106665628	1.000000	0.71417	0.983000	0.44433	0.960000	0.62799	9.471000	0.97696	2.573000	0.86826	0.655000	0.94253	GGT		0.468	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		26	73	0	0	0	0	26	73				
SORCS1	114815	broad.mit.edu	37	10	108389039	108389039	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:108389039G>T	ENST00000263054.6	-	19	2590	c.2583C>A	c.(2581-2583)aaC>aaA	p.N861K	SORCS1_ENST00000369698.1_Missense_Mutation_p.N396K|SORCS1_ENST00000344440.6_Missense_Mutation_p.N861K	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	861	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AAATGCCCACGTTCTGATAGA	0.493																																						uc001kym.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(2581-2583)AAC>AAA		SORCS receptor 1 isoform a							158.0	113.0	129.0					10																	108389039		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108389039G>T	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.2583C>A	10.37:g.108389039G>T	ENSP00000263054:p.Asn861Lys					SORCS1_uc001kyl.2_Missense_Mutation_p.N861K|SORCS1_uc009xxs.2_Missense_Mutation_p.N861K|SORCS1_uc001kyn.1_Missense_Mutation_p.N861K|SORCS1_uc001kyo.2_Missense_Mutation_p.N861K	p.N861K	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	19	2591	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	861			Lumenal (Potential).|PKD.		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.2583C>A	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.231056	0.39399	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.58506	0.33;0.33;0.33	5.82	-5.84	0.02318	PKD/Chitinase domain (1);PKD domain (4);	0.117594	0.64402	D	0.000019	T	0.43831	0.1265	L	0.34521	1.04	0.39544	D	0.96886	B;B;B;B;B	0.19331	0.035;0.029;0.029;0.035;0.029	B;B;B;B;B	0.30401	0.066;0.07;0.07;0.115;0.07	T	0.13202	-1.0518	9	.	.	.	-23.8403	17.581	0.87968	0.426:0.0:0.574:0.0	.	861;861;861;861;861	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	K	396;861;861	ENSP00000358712:N396K;ENSP00000263054:N861K;ENSP00000345964:N861K	.	N	-	3	2	SORCS1	108379029	0.000000	0.05858	0.775000	0.31657	0.986000	0.74619	-2.525000	0.00948	-1.493000	0.01835	-1.084000	0.02203	AAC		0.493	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		28	30	1	0	2.49e-11	3.2e-11	28	30				
ATRNL1	26033	broad.mit.edu	37	10	117486770	117486770	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:117486770G>T	ENST00000355044.3	+	27	3934	c.3808G>T	c.(3808-3810)Gaa>Taa	p.E1270*	ATRNL1_ENST00000303745.7_Nonsense_Mutation_p.E63*|ATRNL1_ENST00000423111.2_Nonsense_Mutation_p.E321*	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1270					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		ACTGCTTCGAGAACGACAGCA	0.438																																						uc001lcg.2		NA																	0				ovary(5)|lung(1)|central_nervous_system(1)	7						c.(3808-3810)GAA>TAA		attractin-like 1 precursor							50.0	48.0	48.0					10																	117486770		2203	4300	6503	SO:0001587	stop_gained	26033					integral to membrane	sugar binding	g.chr10:117486770G>T	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3808G>T	10.37:g.117486770G>T	ENSP00000347152:p.Glu1270*					ATRNL1_uc010qsm.1_Nonsense_Mutation_p.E399*|ATRNL1_uc010qsn.1_RNA	p.E1270*	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	27	4194	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	1270			Cytoplasmic (Potential).		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Nonsense_Mutation	SNP	ENST00000355044.3	37	c.3808G>T	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	G	37	6.589951	0.97688	.	.	ENSG00000107518	ENST00000355044;ENST00000423111;ENST00000303745	.	.	.	5.77	5.77	0.91146	.	0.098234	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-20.7708	19.9795	0.97321	0.0:0.0:1.0:0.0	.	.	.	.	X	1270;321;63	.	ENSP00000307660:E63X	E	+	1	0	ATRNL1	117476760	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.720000	0.91442	2.720000	0.93068	0.650000	0.86243	GAA		0.438	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		25	42	1	0	2.13e-12	2.77e-12	25	42				
MKI67	4288	broad.mit.edu	37	10	129901414	129901414	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:129901414T>A	ENST00000368654.3	-	13	9065	c.8690A>T	c.(8689-8691)gAt>gTt	p.D2897V	MKI67_ENST00000368653.3_Missense_Mutation_p.D2537V	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2897	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GCCAATTACATCTTCTGCGTC	0.557																																						uc001lke.2		NA																	0				ovary(4)|central_nervous_system(2)|skin(1)	7						c.(8689-8691)GAT>GTT		antigen identified by monoclonal antibody Ki-67							170.0	164.0	166.0					10																	129901414		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129901414T>A	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.8690A>T	10.37:g.129901414T>A	ENSP00000357643:p.Asp2897Val					MKI67_uc001lkf.2_Missense_Mutation_p.D2537V|MKI67_uc009yav.1_Missense_Mutation_p.D2472V|MKI67_uc009yaw.1_Missense_Mutation_p.D2047V	p.D2897V	NM_002417	NP_002408	P46013	KI67_HUMAN			13	8885	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	2897			16 X 122 AA approximate repeats.|16.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.8690A>T	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	T	13.39	2.223339	0.39300	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02216	4.39;4.39	4.36	-0.588	0.11687	.	.	.	.	.	T	0.01870	0.0059	N	0.24115	0.695	0.09310	N	1	P;P;B	0.42409	0.779;0.71;0.393	B;B;B	0.41236	0.275;0.351;0.215	T	0.50882	-0.8775	9	0.27785	T	0.31	.	7.1974	0.25860	0.0:0.4207:0.0:0.5793	.	2896;2537;2897	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	V	2897;2537;2896	ENSP00000357643:D2897V;ENSP00000357642:D2537V	ENSP00000357642:D2537V	D	-	2	0	MKI67	129791404	0.013000	0.17824	0.000000	0.03702	0.003000	0.03518	-0.070000	0.11523	-0.196000	0.10366	-0.250000	0.11733	GAT		0.557	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		67	264	0	0	0	0	67	264				
PKP3	11187	broad.mit.edu	37	11	404053	404053	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:404053G>A	ENST00000331563.2	+	11	2264	c.2188G>A	c.(2188-2190)Gtg>Atg	p.V730M		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	730				V -> G (in Ref. 4; BAD97231). {ECO:0000305}.	desmosome assembly (GO:0002159)|establishment of protein localization to plasma membrane (GO:0090002)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|desmosome (GO:0030057)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CAACCTGGTGGTGGCCAGCCC	0.612																																						uc001lpc.2		NA																	0				skin(1)	1						c.(2188-2190)GTG>ATG		plakophilin 3							71.0	78.0	75.0					11																	404053		2191	4287	6478	SO:0001583	missense	11187				cell adhesion	desmosome|nucleus	binding	g.chr11:404053G>A	Z98265	CCDS7695.1	11p15	2013-02-14			ENSG00000184363	ENSG00000184363		"""Armadillo repeat containing"""	9025	protein-coding gene	gene with protein product		605561				10374265	Standard	XM_005252760		Approved		uc001lpc.3	Q9Y446	OTTHUMG00000119068	ENST00000331563.2:c.2188G>A	11.37:g.404053G>A	ENSP00000331678:p.Val730Met						p.V730M	NM_007183	NP_009114	Q9Y446	PKP3_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	11	2264	+		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	730	V -> G (in Ref. 3; BAD97231).		ARM 8.		F8J390|Q53EX8	Missense_Mutation	SNP	ENST00000331563.2	37	c.2188G>A	CCDS7695.1	.	.	.	.	.	.	.	.	.	.	g	15.02	2.708333	0.48517	.	.	ENSG00000184363	ENST00000331563	T	0.48522	0.81	3.96	3.96	0.45880	Armadillo-like helical (1);Armadillo-type fold (1);	0.243508	0.34386	N	0.004013	T	0.51449	0.1675	L	0.43152	1.355	0.40994	D	0.984871	D	0.62365	0.991	P	0.51999	0.687	T	0.55392	-0.8148	10	0.42905	T	0.14	-16.125	16.5894	0.84761	0.0:0.0:1.0:0.0	.	730	Q9Y446	PKP3_HUMAN	M	730	ENSP00000331678:V730M	ENSP00000331678:V730M	V	+	1	0	PKP3	394053	1.000000	0.71417	1.000000	0.80357	0.213000	0.24496	5.861000	0.69553	2.233000	0.73108	0.313000	0.20887	GTG		0.612	PKP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239281.1	NM_007183		35	128	0	0	0	0	35	128				
MUC5B	727897	broad.mit.edu	37	11	1271606	1271606	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:1271606C>A	ENST00000529681.1	+	31	13554	c.13496C>A	c.(13495-13497)tCc>tAc	p.S4499Y	MUC5B_ENST00000447027.1_Missense_Mutation_p.S4502Y|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4499	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACTCCCTCCTCCAGTCCAGGG	0.642																																						uc009ycr.1		NA																	0					0						c.(14914-14916)TCC>TAC		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							164.0	207.0	192.0					11																	1271606		2187	4266	6453	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1271606C>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.13496C>A	11.37:g.1271606C>A	ENSP00000436812:p.Ser4499Tyr					MUC5B_uc001ltb.2_Missense_Mutation_p.S4502Y	p.S4972Y	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	51	15041	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	4499			23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.14915C>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	-	4.475	0.088098	0.08583	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844;ENST00000535652	T;T	0.18174	2.23;2.41	1.84	1.84	0.25277	.	.	.	.	.	T	0.15262	0.0368	L	0.58810	1.83	0.21762	N	0.999557	D;D	0.54964	0.969;0.969	B;B	0.38106	0.265;0.265	T	0.18713	-1.0328	9	0.87932	D	0	.	7.6533	0.28360	0.0:1.0:0.0:0.0	.	4972;4502	A7Y9J9;E9PBJ0	.;.	Y	4499;4502;4443;4349;278	ENSP00000436812:S4499Y;ENSP00000415793:S4502Y	ENSP00000343037:S4443Y	S	+	2	0	MUC5B	1228182	0.001000	0.12720	0.011000	0.14972	0.162000	0.22319	0.667000	0.25112	0.966000	0.38159	0.298000	0.19748	TCC		0.642	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		77	119	1	0	3.71e-27	5.4e-27	77	119				
ART1	417	broad.mit.edu	37	11	3681086	3681086	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:3681086G>A	ENST00000250693.1	+	3	438	c.337G>A	c.(337-339)Gag>Aag	p.E113K		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	113					innate immune response (GO:0045087)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)		CTTCCGCGATGAGCATGGGGT	0.682																																						uc001lye.1		NA																	0					0						c.(337-339)GAG>AAG		ADP-ribosyltransferase 1 precursor	Becaplermin(DB00102)						25.0	27.0	26.0					11																	3681086		2200	4297	6497	SO:0001583	missense	417				protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity	g.chr11:3681086G>A	S74683	CCDS7744.1	11p15	2006-02-23			ENSG00000129744	ENSG00000129744		"""CD molecules"""	723	protein-coding gene	gene with protein product		601625				8812442	Standard	NM_004314		Approved	ART2, CD296	uc001lye.1	P52961	OTTHUMG00000011845	ENST00000250693.1:c.337G>A	11.37:g.3681086G>A	ENSP00000250693:p.Glu113Lys					ART1_uc009yeb.1_Missense_Mutation_p.E113K	p.E113K	NM_004314	NP_004305	P52961	NAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	3	438	+		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	113					Q6NTD2|Q96KT9	Missense_Mutation	SNP	ENST00000250693.1	37	c.337G>A	CCDS7744.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.337883	0.60963	.	.	ENSG00000129744	ENST00000250693	T	0.08807	3.05	5.53	5.53	0.82687	.	0.355497	0.36444	N	0.002598	T	0.13798	0.0334	M	0.81942	2.565	0.34014	D	0.651798	B	0.31413	0.322	B	0.30029	0.11	T	0.07366	-1.0776	9	.	.	.	.	12.6613	0.56815	0.0:0.1662:0.8338:0.0	.	113	P52961	NAR1_HUMAN	K	113	ENSP00000250693:E113K	.	E	+	1	0	ART1	3637662	1.000000	0.71417	0.952000	0.39060	0.938000	0.57974	2.235000	0.43044	2.603000	0.88011	0.467000	0.42956	GAG		0.682	ART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032765.1	NM_004314		14	40	0	0	0	0	14	40				
OR52W1	120787	broad.mit.edu	37	11	6220867	6220867	+	Silent	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:6220867T>A	ENST00000311352.2	+	1	492	c.414T>A	c.(412-414)ccT>ccA	p.P138P	RP11-290F24.6_ENST00000600308.1_lincRNA	NM_001005178.1	NP_001005178.1	Q6IF63	O52W1_HUMAN	olfactory receptor, family 52, subfamily W, member 1	138						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)	11		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCACTACCCTGTCCTGGTCA	0.537																																						uc010qzz.1		NA																	0					0						c.(412-414)CCT>CCA		olfactory receptor, family 52, subfamily W,							160.0	110.0	127.0					11																	6220867		2201	4296	6497	SO:0001819	synonymous_variant	120787				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6220867T>A	AB065511	CCDS31407.1	11p15.4	2012-08-09		2004-03-10	ENSG00000175485	ENSG00000175485		"""GPCR / Class A : Olfactory receptors"""	15239	protein-coding gene	gene with protein product				OR52W1P			Standard	NM_001005178		Approved		uc010qzz.2	Q6IF63	OTTHUMG00000165378	ENST00000311352.2:c.414T>A	11.37:g.6220867T>A							p.P138P	NM_001005178	NP_001005178	Q6IF63	O52W1_HUMAN		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	414	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	138			Cytoplasmic (Potential).		Q8NH78	Silent	SNP	ENST00000311352.2	37	c.414T>A	CCDS31407.1																																																																																				0.537	OR52W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383758.1	NM_001005178		13	75	0	0	0	0	13	75				
DCHS1	8642	broad.mit.edu	37	11	6661920	6661920	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:6661920C>G	ENST00000299441.3	-	2	1336	c.925G>C	c.(925-927)Gca>Cca	p.A309P		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	309	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCGTGTGTGCGTCGATGGAG	0.607																																						uc001mem.1		NA																	0				ovary(3)|large_intestine(1)|pancreas(1)	5						c.(925-927)GCA>CCA		dachsous 1 precursor							105.0	95.0	98.0					11																	6661920		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6661920C>G	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.925G>C	11.37:g.6661920C>G	ENSP00000299441:p.Ala309Pro						p.A309P	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1335	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	309			Extracellular (Potential).|Cadherin 3.		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.925G>C	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	2.123	-0.401033	0.04865	.	.	ENSG00000166341	ENST00000299441	T	0.48522	0.81	5.14	4.16	0.48862	Cadherin (4);Cadherin-like (1);	0.000000	0.46442	D	0.000294	T	0.20536	0.0494	N	0.03154	-0.405	0.18873	N	0.999985	B	0.13594	0.008	B	0.21708	0.036	T	0.17653	-1.0362	10	0.02654	T	1	.	10.8978	0.47034	0.1432:0.7179:0.1389:0.0	.	309	Q96JQ0	PCD16_HUMAN	P	309	ENSP00000299441:A309P	ENSP00000299441:A309P	A	-	1	0	DCHS1	6618496	0.005000	0.15991	0.859000	0.33776	0.702000	0.40608	0.128000	0.15810	2.381000	0.81170	0.637000	0.83480	GCA		0.607	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		38	81	0	0	0	0	38	81				
OR2AG2	338755	broad.mit.edu	37	11	6789752	6789752	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:6789752G>T	ENST00000338569.2	-	1	534	c.437C>A	c.(436-438)gCc>gAc	p.A146D		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CCAGGATGTGGCCACCATGAT	0.507																																						uc001meq.1		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(436-438)GCC>GAC		olfactory receptor, family 2, subfamily AG,							107.0	88.0	94.0					11																	6789752		2201	4296	6497	SO:0001583	missense	338755				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6789752G>T	AB065539	CCDS31413.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188124	ENSG00000188124		"""GPCR / Class A : Olfactory receptors"""	15143	protein-coding gene	gene with protein product				OR2AG2P			Standard	NM_001004490		Approved		uc001meq.1	A6NM03	OTTHUMG00000165868	ENST00000338569.2:c.437C>A	11.37:g.6789752G>T	ENSP00000342697:p.Ala146Asp						p.A146D	NM_001004490	NP_001004490	A6NM03	O2AG2_HUMAN		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	437	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)	146			Helical; Name=4; (Potential).			Missense_Mutation	SNP	ENST00000338569.2	37	c.437C>A	CCDS31413.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.067378	0.55539	.	.	ENSG00000188124	ENST00000338569	T	0.42513	0.97	4.47	1.53	0.23141	GPCR, rhodopsin-like superfamily (1);	0.278290	0.25726	N	0.028718	T	0.59487	0.2197	M	0.88241	2.94	0.09310	N	1	P	0.50528	0.936	P	0.58266	0.836	T	0.52200	-0.8607	10	0.87932	D	0	.	6.368	0.21465	0.176:0.1526:0.6713:0.0	.	146	A6NM03	O2AG2_HUMAN	D	146	ENSP00000342697:A146D	ENSP00000342697:A146D	A	-	2	0	OR2AG2	6746328	0.000000	0.05858	0.994000	0.49952	0.959000	0.62525	0.340000	0.19892	0.375000	0.24679	0.655000	0.94253	GCC		0.507	OR2AG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386775.1	NM_001004490		42	58	1	0	6.08e-31	8.94e-31	42	58				
PTH	5741	broad.mit.edu	37	11	13513984	13513984	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:13513984C>T	ENST00000282091.1	-	3	430	c.316G>A	c.(316-318)Gtg>Atg	p.V106M	PTH_ENST00000529816.1_Missense_Mutation_p.V106M	NM_000315.2	NP_000306.1	P01270	PTHY_HUMAN	parathyroid hormone	106					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|bone resorption (GO:0045453)|cAMP metabolic process (GO:0046058)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|cellular macromolecule biosynthetic process (GO:0034645)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of signal transduction (GO:0009967)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression (GO:0010468)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to lead ion (GO:0010288)|response to parathyroid hormone (GO:0071107)|response to vitamin D (GO:0033280)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|peptide hormone receptor binding (GO:0051428)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(625;0.00116)|Epithelial(150;0.0357)|LUSC - Lung squamous cell carcinoma(625;0.0836)		AATACATTCACATCAGCTTTG	0.428																																						uc001mlb.2		NA																	0				ovary(1)	1						c.(316-318)GTG>ATG		parathyroid hormone preproprotein							103.0	93.0	96.0					11																	13513984		2200	4294	6494	SO:0001583	missense	5741				bone resorption|cAMP metabolic process|cell-cell signaling|cellular calcium ion homeostasis|cellular macromolecule biosynthetic process|induction of apoptosis by hormones|positive regulation of cAMP biosynthetic process|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|skeletal system development		hormone activity|peptide hormone receptor binding	g.chr11:13513984C>T	J00301	CCDS7812.1	11p15.3-p15.1	2013-02-28				ENSG00000152266		"""Endogenous ligands"""	9606	protein-coding gene	gene with protein product	"""parathyrin"", ""parathormone"", ""parathyroid hormone 1"", ""preproparathyroid hormone"", ""prepro-PTH"""	168450				1672845	Standard	NM_000315		Approved	PTH1	uc001mlb.3	P01270		ENST00000282091.1:c.316G>A	11.37:g.13513984C>T	ENSP00000282091:p.Val106Met						p.V106M	NM_000315	NP_000306	P01270	PTHY_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00116)|Epithelial(150;0.0357)|LUSC - Lung squamous cell carcinoma(625;0.0836)	3	431	-			106					Q4VB48|Q9UD38	Missense_Mutation	SNP	ENST00000282091.1	37	c.316G>A	CCDS7812.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.279261	0.59758	.	.	ENSG00000152266	ENST00000282091;ENST00000529816	D;D	0.85629	-2.01;-2.01	5.95	5.95	0.96441	.	0.272209	0.35124	N	0.003436	D	0.85314	0.5668	L	0.53249	1.67	0.30157	N	0.802577	P	0.46395	0.877	P	0.51615	0.675	T	0.82317	-0.0517	10	0.33141	T	0.24	-25.9279	8.8147	0.34989	0.0:0.7699:0.1517:0.0783	.	106	P01270	PTHY_HUMAN	M	106	ENSP00000282091:V106M;ENSP00000433208:V106M	ENSP00000282091:V106M	V	-	1	0	PTH	13470560	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.443000	0.35057	2.822000	0.97130	0.650000	0.86243	GTG		0.428	PTH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386198.1	NM_000315		14	81	0	0	0	0	14	81				
SOX6	55553	broad.mit.edu	37	11	16071443	16071443	+	Silent	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:16071443G>C	ENST00000352083.6	-	11	1370	c.1293C>G	c.(1291-1293)ccC>ccG	p.P431P	SOX6_ENST00000316399.6_Silent_p.P431P|SOX6_ENST00000528429.1_Silent_p.P431P|SOX6_ENST00000527619.1_Silent_p.P393P|SOX6_ENST00000528252.1_Silent_p.P390P|SOX6_ENST00000396356.3_Silent_p.P431P			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	431					astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						CTGCTGTCTTGGGTCGGGATG	0.463																																						uc001mme.2		NA																	0				ovary(3)	3						c.(1330-1332)CCC>CCG		SRY (sex determining region Y)-box 6 isoform 4							211.0	220.0	217.0					11																	16071443		2200	4294	6494	SO:0001819	synonymous_variant	55553				muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:16071443G>C	AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"""SRY (sex determining region Y)-boxes"""	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.1293C>G	11.37:g.16071443G>C						SOX6_uc001mmd.2_Silent_p.P393P|SOX6_uc001mmf.2_Silent_p.P390P|SOX6_uc001mmg.2_Silent_p.P431P	p.P444P	NM_001145819	NP_001139291	P35712	SOX6_HUMAN			11	1365	-			431					Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Silent	SNP	ENST00000352083.6	37	c.1332C>G																																																																																					0.463	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000386811.1	NM_033326		156	299	0	0	0	0	156	299				
SLC6A5	9152	broad.mit.edu	37	11	20673942	20673942	+	Silent	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:20673942C>T	ENST00000525748.1	+	15	2451	c.2178C>T	c.(2176-2178)gtC>gtT	p.V726V	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	726					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CCTGTTCCGTCATCTGGATCC	0.473																																						uc001mqd.2		NA																	0				ovary(2)|breast(1)|skin(1)	4						c.(2176-2178)GTC>GTT		solute carrier family 6 (neurotransmitter	Glycine(DB00145)						226.0	214.0	218.0					11																	20673942		2203	4300	6503	SO:0001819	synonymous_variant	9152				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr11:20673942C>T	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.2178C>T	11.37:g.20673942C>T						SLC6A5_uc009yic.2_Silent_p.V491V	p.V726V	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN			15	2451	+			726			Helical; Name=12; (Potential).		O95288|Q4VAM7|Q9BX77	Silent	SNP	ENST00000525748.1	37	c.2178C>T	CCDS7854.1																																																																																				0.473	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211		49	267	0	0	0	0	49	267				
SLC17A6	57084	broad.mit.edu	37	11	22387106	22387106	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:22387106G>T	ENST00000263160.3	+	7	1199	c.762G>T	c.(760-762)atG>atT	p.M254I		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	254					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GCTTTGGAATGGTCTGGTACA	0.398																																						uc001mqk.2		NA																	0				ovary(3)|breast(1)	4						c.(760-762)ATG>ATT		solute carrier family 17 (sodium-dependent							250.0	227.0	235.0					11																	22387106		2203	4300	6503	SO:0001583	missense	57084				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr11:22387106G>T	AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"""Solute carriers"""	16703	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 2"", ""differentiation-associated Na-dependent inorganic phosphate cotransporter"""	607563	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"""			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.762G>T	11.37:g.22387106G>T	ENSP00000263160:p.Met254Ile						p.M254I	NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN			7	1175	+			254			Helical; (Potential).		A6NKS2	Missense_Mutation	SNP	ENST00000263160.3	37	c.762G>T	CCDS7856.1	.	.	.	.	.	.	.	.	.	.	G	1.815	-0.473745	0.04414	.	.	ENSG00000091664	ENST00000263160;ENST00000546171	T	0.54866	0.55	5.64	5.64	0.86602	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.127808	0.64402	D	0.000001	T	0.14013	0.0339	N	0.00403	-1.54	0.37857	D	0.929578	B	0.02656	0.0	B	0.01281	0.0	T	0.43589	-0.9382	10	0.02654	T	1	.	4.8473	0.13519	0.082:0.15:0.6125:0.1556	.	254	Q9P2U8	VGLU2_HUMAN	I	254;142	ENSP00000263160:M254I	ENSP00000263160:M254I	M	+	3	0	SLC17A6	22343682	0.993000	0.37304	1.000000	0.80357	0.996000	0.88848	0.832000	0.27490	2.812000	0.96745	0.557000	0.71058	ATG		0.398	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346		40	130	1	0	4.92e-23	7.02e-23	40	130				
SLC17A6	57084	broad.mit.edu	37	11	22397537	22397537	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:22397537T>G	ENST00000263160.3	+	10	1621	c.1184T>G	c.(1183-1185)aTg>aGg	p.M395R		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	395					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GGTTTTGGCATGGAAGCCACA	0.393																																						uc001mqk.2		NA																	0				ovary(3)|breast(1)	4						c.(1183-1185)ATG>AGG		solute carrier family 17 (sodium-dependent							146.0	150.0	149.0					11																	22397537		2203	4300	6503	SO:0001583	missense	57084				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr11:22397537T>G	AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"""Solute carriers"""	16703	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 2"", ""differentiation-associated Na-dependent inorganic phosphate cotransporter"""	607563	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"""			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.1184T>G	11.37:g.22397537T>G	ENSP00000263160:p.Met395Arg						p.M395R	NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN			10	1597	+			395			Helical; (Potential).		A6NKS2	Missense_Mutation	SNP	ENST00000263160.3	37	c.1184T>G	CCDS7856.1	.	.	.	.	.	.	.	.	.	.	T	19.21	3.783293	0.70222	.	.	ENSG00000091664	ENST00000263160;ENST00000546171	T	0.58210	0.35	6.17	6.17	0.99709	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.60869	0.2302	M	0.80982	2.52	0.80722	D	1	B	0.20887	0.049	B	0.30105	0.111	T	0.58244	-0.7670	10	0.40728	T	0.16	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	395	Q9P2U8	VGLU2_HUMAN	R	395;283	ENSP00000263160:M395R	ENSP00000263160:M395R	M	+	2	0	SLC17A6	22354113	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.039000	0.88947	2.371000	0.80710	0.533000	0.62120	ATG		0.393	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346		52	90	0	0	0	0	52	90				
DCDC1	341019	broad.mit.edu	37	11	31327905	31327905	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:31327905C>A	ENST00000452803.1	-	5	666	c.465G>T	c.(463-465)caG>caT	p.Q155H	DCDC1_ENST00000597505.1_Missense_Mutation_p.Q155H|RP1-296L11.1_ENST00000528872.1_RNA	NM_181807.3	NP_861523.2	P59894	DCDC1_HUMAN	doublecortin domain containing 1	155					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TCCGGGCTGACTGAAATTTTA	0.333																																						uc001msv.2		NA																	0				skin(1)	1						c.(463-465)CAG>CAT		doublecortin domain containing 1							77.0	76.0	76.0					11																	31327905		2202	4299	6501	SO:0001583	missense	341019				intracellular signal transduction			g.chr11:31327905C>A	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000452803.1:c.465G>T	11.37:g.31327905C>A	ENSP00000389792:p.Gln155His					DCDC1_uc001msu.1_5'UTR	p.Q155H	NM_181807	NP_861523	P59894	DCDC1_HUMAN			5	667	-	Lung SC(675;0.225)		155					A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000452803.1	37	c.465G>T	CCDS7872.1	.	.	.	.	.	.	.	.	.	.	C	2.573	-0.299082	0.05532	.	.	ENSG00000188682	ENST00000452803	T	0.32023	1.47	5.95	0.499	0.16914	.	0.739340	0.12254	N	0.485408	T	0.20007	0.0481	L	0.47716	1.5	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.31696	-0.9934	10	0.14252	T	0.57	.	3.3865	0.07273	0.4265:0.342:0.1043:0.1273	.	155	P59894	DCDC1_HUMAN	H	155	ENSP00000389792:Q155H	ENSP00000343496:Q155H	Q	-	3	2	DCDC1	31284481	0.000000	0.05858	0.067000	0.19924	0.318000	0.28184	-0.565000	0.05929	0.059000	0.16252	0.650000	0.86243	CAG		0.333	DCDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316531.1	NM_181807		14	46	1	0	1.5e-05	1.71e-05	14	46				
OR5I1	10798	broad.mit.edu	37	11	55703542	55703542	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:55703542G>T	ENST00000301532.3	-	1	334	c.335C>A	c.(334-336)aCa>aAa	p.T112K		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	112					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GAAGGATTCTGTATCTGCAAA	0.438																																						uc010ris.1		NA																	0				ovary(1)	1						c.(334-336)ACA>AAA		olfactory receptor, family 5, subfamily I,							46.0	48.0	48.0					11																	55703542		2201	4293	6494	SO:0001583	missense	10798				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55703542G>T	BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"""GPCR / Class A : Olfactory receptors"""	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.335C>A	11.37:g.55703542G>T	ENSP00000301532:p.Thr112Lys						p.T112K	NM_006637	NP_006628	Q13606	OR5I1_HUMAN			1	335	-			112			Helical; Name=3; (Potential).		Q6IEU4	Missense_Mutation	SNP	ENST00000301532.3	37	c.335C>A	CCDS7949.1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.772035	0.31320	.	.	ENSG00000167825	ENST00000301532	T	0.01918	4.56	4.84	3.86	0.44501	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000167	T	0.13286	0.0322	M	0.92970	3.365	0.09310	N	1	D	0.76494	0.999	D	0.78314	0.991	T	0.08452	-1.0721	10	0.87932	D	0	.	5.6293	0.17501	0.0998:0.0:0.7037:0.1965	.	112	Q13606	OR5I1_HUMAN	K	112	ENSP00000301532:T112K	ENSP00000301532:T112K	T	-	2	0	OR5I1	55460118	0.000000	0.05858	0.602000	0.28890	0.077000	0.17291	0.259000	0.18405	2.385000	0.81259	0.637000	0.83480	ACA		0.438	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637		33	26	1	0	3.9e-15	5.22e-15	33	26				
OR5J2	282775	broad.mit.edu	37	11	55944458	55944458	+	Missense_Mutation	SNP	G	G	T	rs151315491	byFrequency	TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:55944458G>T	ENST00000312298.1	+	1	365	c.365G>T	c.(364-366)cGc>cTc	p.R122L		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R122H(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					GCCTATGACCGCTATGTGGCC	0.453																																						uc010rjb.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4						c.(364-366)CGC>CTC		olfactory receptor, family 5, subfamily J,							154.0	139.0	144.0					11																	55944458		2201	4296	6497	SO:0001583	missense	282775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55944458G>T	AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"""GPCR / Class A : Olfactory receptors"""	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.365G>T	11.37:g.55944458G>T	ENSP00000310788:p.Arg122Leu						p.R122L	NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN			1	365	+	Esophageal squamous(21;0.00693)		122			Cytoplasmic (Potential).		Q6IEU5	Missense_Mutation	SNP	ENST00000312298.1	37	c.365G>T	CCDS31522.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.675347	0.47781	.	.	ENSG00000174957	ENST00000312298	T	0.77358	-1.09	4.67	0.433	0.16534	GPCR, rhodopsin-like superfamily (1);	0.107595	0.41823	D	0.000808	D	0.84951	0.5586	H	0.97023	3.925	0.40540	D	0.981019	P	0.42735	0.788	B	0.43916	0.436	D	0.86189	0.1611	10	0.72032	D	0.01	.	11.2842	0.49212	0.1056:0.0:0.8944:0.0	.	122	Q8NH18	OR5J2_HUMAN	L	122	ENSP00000310788:R122L	ENSP00000310788:R122L	R	+	2	0	OR5J2	55701034	0.452000	0.25713	0.001000	0.08648	0.015000	0.08874	3.597000	0.54031	-0.090000	0.12462	0.584000	0.79450	CGC		0.453	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391544.1	NM_001005492		71	68	1	0	1.56e-33	2.31e-33	71	68				
OR5T1	390155	broad.mit.edu	37	11	56043301	56043301	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:56043301G>T	ENST00000313033.2	+	1	273	c.187G>T	c.(187-189)Ggg>Tgg	p.G63W		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	63						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					ACCGATCATTGGGGATTTCTG	0.363																																						uc001nio.1		NA																	0				ovary(2)|pancreas(1)	3						c.(187-189)GGG>TGG		olfactory receptor, family 5, subfamily T,							87.0	85.0	86.0					11																	56043301		2201	4296	6497	SO:0001583	missense	390155				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56043301G>T	AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"""GPCR / Class A : Olfactory receptors"""	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.187G>T	11.37:g.56043301G>T	ENSP00000323612:p.Gly63Trp						p.G63W	NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN			1	187	+	Esophageal squamous(21;0.00448)		63			Cytoplasmic (Potential).		B2RNM9	Missense_Mutation	SNP	ENST00000313033.2	37	c.187G>T	CCDS31525.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.534804	0.27475	.	.	ENSG00000181698	ENST00000313033	T	0.03094	4.05	3.63	1.72	0.24424	GPCR, rhodopsin-like superfamily (1);	1.249460	0.06035	N	0.653826	T	0.05868	0.0153	N	0.25201	0.72	0.09310	N	1	P	0.50943	0.94	P	0.54965	0.765	T	0.43278	-0.9401	10	0.32370	T	0.25	.	4.6031	0.12363	0.4416:0.0:0.5584:0.0	.	63	Q8NG75	OR5T1_HUMAN	W	63	ENSP00000323612:G63W	ENSP00000323612:G63W	G	+	1	0	OR5T1	55799877	0.000000	0.05858	0.001000	0.08648	0.022000	0.10575	-1.155000	0.03163	0.868000	0.35678	0.471000	0.43371	GGG		0.363	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391600.1	NM_001004745		23	74	1	0	1.5e-11	1.94e-11	23	74				
OR5M3	219482	broad.mit.edu	37	11	56237387	56237387	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:56237387G>A	ENST00000312240.2	-	1	627	c.587C>T	c.(586-588)aCa>aTa	p.T196I		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	196						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					TATGATCATTGTATATTCTTT	0.408																																						uc010rjk.1		NA																	0				ovary(2)	2						c.(586-588)ACA>ATA		olfactory receptor, family 5, subfamily M,							126.0	121.0	123.0					11																	56237387		2201	4295	6496	SO:0001583	missense	219482				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56237387G>A	AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"""GPCR / Class A : Olfactory receptors"""	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.587C>T	11.37:g.56237387G>A	ENSP00000312208:p.Thr196Ile						p.T196I	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN			1	587	-	Esophageal squamous(21;0.00448)		196			Helical; Name=5; (Potential).		B2RNM7|Q6IEW4|Q96RC0	Missense_Mutation	SNP	ENST00000312240.2	37	c.587C>T	CCDS31532.1	.	.	.	.	.	.	.	.	.	.	G	3.094	-0.186316	0.06340	.	.	ENSG00000174937	ENST00000312240	T	0.35605	1.3	5.08	3.17	0.36434	GPCR, rhodopsin-like superfamily (1);	0.145750	0.31821	N	0.007014	T	0.21674	0.0522	N	0.01019	-1.045	0.09310	N	1	D	0.61697	0.99	D	0.66497	0.944	T	0.06789	-1.0807	10	0.25106	T	0.35	-11.2213	5.5469	0.17069	0.1002:0.0:0.7016:0.1982	.	196	Q8NGP4	OR5M3_HUMAN	I	196	ENSP00000312208:T196I	ENSP00000312208:T196I	T	-	2	0	OR5M3	55993963	0.000000	0.05858	0.020000	0.16555	0.057000	0.15508	0.362000	0.20284	1.095000	0.41419	0.549000	0.68633	ACA		0.408	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742		91	84	0	0	0	0	91	84				
OR10Q1	219960	broad.mit.edu	37	11	57995542	57995542	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:57995542G>T	ENST00000316770.2	-	1	848	c.806C>A	c.(805-807)tCc>tAc	p.S269Y		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	269						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				TGAGGTGCTGGACCGAGGACG	0.602																																						uc010rkd.1		NA																	0				ovary(2)	2						c.(805-807)TCC>TAC		olfactory receptor, family 10, subfamily Q,							89.0	79.0	82.0					11																	57995542		2201	4295	6496	SO:0001583	missense	219960				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57995542G>T	AB065735	CCDS31547.1	11q12.1	2012-08-09			ENSG00000180475	ENSG00000180475		"""GPCR / Class A : Olfactory receptors"""	15134	protein-coding gene	gene with protein product							Standard	NM_001004471		Approved		uc010rkd.2	Q8NGQ4	OTTHUMG00000167542	ENST00000316770.2:c.806C>A	11.37:g.57995542G>T	ENSP00000314324:p.Ser269Tyr						p.S269Y	NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN			1	806	-		Breast(21;0.0589)	269			Extracellular (Potential).		Q6IFG4	Missense_Mutation	SNP	ENST00000316770.2	37	c.806C>A	CCDS31547.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.085848	0.36758	.	.	ENSG00000180475	ENST00000316770	T	0.00274	8.35	5.07	5.07	0.68467	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42294	D	0.000733	T	0.01061	0.0035	M	0.93763	3.455	0.26458	N	0.975498	D	0.89917	1.0	D	0.97110	1.0	T	0.19976	-1.0289	10	0.87932	D	0	.	17.1846	0.86863	0.0:0.0:1.0:0.0	.	269	Q8NGQ4	O10Q1_HUMAN	Y	269	ENSP00000314324:S269Y	ENSP00000314324:S269Y	S	-	2	0	OR10Q1	57752118	0.002000	0.14202	0.986000	0.45419	0.010000	0.07245	0.974000	0.29436	2.638000	0.89438	0.650000	0.86243	TCC		0.602	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394706.1	NM_001004471		26	31	1	0	4.72e-08	5.73e-08	26	31				
C11orf48	79081	broad.mit.edu	37	11	62437249	62437249	+	Silent	SNP	C	C	G	rs181173914	byFrequency	TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:62437249C>G	ENST00000431002.2	-	1	1988	c.255G>C	c.(253-255)ccG>ccC	p.P85P	C11orf48_ENST00000354588.3_Silent_p.P59P|C11orf83_ENST00000531323.1_5'Flank|C11orf48_ENST00000532208.1_Silent_p.P59P|C11orf83_ENST00000377953.3_5'Flank			Q9BQE6	CK048_HUMAN	chromosome 11 open reading frame 48	85										endometrium(1)|lung(5)|urinary_tract(1)	7						CCACAATAGACGGCAGATGGG	0.537																																						uc001nue.2		NA																	0					0						c.(175-177)CCG>CCC		hypothetical protein LOC79081							134.0	129.0	130.0					11																	62437249		2202	4299	6501	SO:0001819	synonymous_variant	79081							g.chr11:62437249C>G	BC001434	CCDS8028.1	11q12.3	2014-02-12			ENSG00000162194	ENSG00000162194			28351	protein-coding gene	gene with protein product						12477932	Standard	NM_024099		Approved	MGC2477	uc001nuf.3	Q9BQE6	OTTHUMG00000167588	ENST00000431002.2:c.255G>C	11.37:g.62437249C>G						C11orf48_uc001nuf.2_Silent_p.P59P|C11orf48_uc010rmd.1_Silent_p.P59P|C11orf83_uc001nui.3_5'Flank	p.P59P	NM_024099	NP_077004	Q9BQE6	CK048_HUMAN			3	612	-			85					Q96NA4	Silent	SNP	ENST00000431002.2	37	c.177G>C																																																																																					0.537	C11orf48-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000395233.1	NM_024099		41	161	0	0	0	0	41	161				
SLC22A6	9356	broad.mit.edu	37	11	62751493	62751493	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:62751493G>A	ENST00000377871.3	-	2	662	c.396C>T	c.(394-396)gcC>gcT	p.A132A	SLC22A6_ENST00000360421.4_Silent_p.A132A|SLC22A6_ENST00000537349.1_5'Flank|SLC22A6_ENST00000421062.2_Silent_p.A132A|SLC22A6_ENST00000458333.2_Silent_p.A132A	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	132					alpha-ketoglutarate transport (GO:0015742)|organic anion transport (GO:0015711)|protein homooligomerization (GO:0051260)|renal tubular secretion (GO:0097254)|response to methotrexate (GO:0031427)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride ion binding (GO:0031404)|inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36					Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	GCTGGCGTAGGGCCCTGTGAG	0.617																																						uc001nwk.2		NA																	0					0						c.(394-396)GCC>GCT		solute carrier family 22 member 6 isoform a							47.0	44.0	45.0					11																	62751493		2201	4298	6499	SO:0001819	synonymous_variant	9356				alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding	g.chr11:62751493G>A	AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901		"""Solute carriers"""	10970	protein-coding gene	gene with protein product		607582				9762842, 9950961	Standard	NM_004790		Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.396C>T	11.37:g.62751493G>A						SLC22A6_uc001nwl.2_Silent_p.A132A|SLC22A6_uc001nwj.2_Silent_p.A132A|SLC22A6_uc001nwm.2_Silent_p.A132A	p.A132A	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN			2	703	-			132			Extracellular (Potential).		A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Silent	SNP	ENST00000377871.3	37	c.396C>T	CCDS31591.1																																																																																				0.617	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396186.1	NM_004790		19	18	0	0	0	0	19	18				
SHANK2	22941	broad.mit.edu	37	11	70505947	70505947	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:70505947C>A	ENST00000423696.2	-	7	946	c.910G>T	c.(910-912)Gac>Tac	p.D304Y	SHANK2_ENST00000449833.2_Missense_Mutation_p.D95Y|SHANK2_ENST00000409530.1_Missense_Mutation_p.D94Y|SHANK2_ENST00000357171.3_Missense_Mutation_p.D95Y|SHANK2_ENST00000449116.2_Missense_Mutation_p.D95Y|SHANK2_ENST00000409161.1_Missense_Mutation_p.D94Y|SHANK2_ENST00000338508.4_Missense_Mutation_p.D684Y			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	304	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			ATCAAGAAGTCCCCGGTCCTT	0.587																																						uc001oqc.2		NA																	0				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(2047-2049)GAC>TAC		SH3 and multiple ankyrin repeat domains 2							125.0	103.0	111.0					11																	70505947		2200	4294	6494	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70505947C>A	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.910G>T	11.37:g.70505947C>A	ENSP00000394536:p.Asp304Tyr					SHANK2_uc010rqn.1_Missense_Mutation_p.D95Y|SHANK2_uc001opz.2_Missense_Mutation_p.D95Y|uc009ysn.1_Intron|SHANK2_uc010rqp.1_Missense_Mutation_p.D95Y	p.D683Y	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		14	2125	-			304			PDZ.		C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.2047G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.4|23.4	4.413640|4.413640	0.83449|0.83449	.|.	.|.	ENSG00000162105|ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018;ENST00000409530;ENST00000449116;ENST00000357171|ENST00000412252	T;T;T;T;T;T;T;T|T	0.74209|0.59502	-0.82;-0.82;-0.82;-0.82;-0.82;-0.82;-0.82;-0.82|0.26	5.0|5.0	5.0|5.0	0.66597|0.66597	PDZ/DHR/GLGF (4);|.	0.260941|.	0.37219|.	N|.	0.002181|.	D|D	0.83663|0.83663	0.5303|0.5303	H|H	0.95224|0.95224	3.64|3.64	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;1.0;0.998;0.999|.	D|D	0.89155|0.89155	0.3526|0.3526	10|7	0.87932|0.87932	D|D	0|0	.|.	18.3133|18.3133	0.90208|0.90208	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	95;304;683;95|.	B7ZKU9;Q9UPX8;Q9UPX8-3;Q9UPX8-4|.	.;SHAN2_HUMAN;.;.|.	Y|V	95;94;684;304;318;314;94;95;95|93	ENSP00000399423:D95Y;ENSP00000386491:D94Y;ENSP00000345193:D684Y;ENSP00000394536:D304Y;ENSP00000294018:D314Y;ENSP00000387324:D94Y;ENSP00000394939:D95Y;ENSP00000349694:D95Y|ENSP00000414876:G93V	ENSP00000294018:D314Y|ENSP00000414876:G93V	D|G	-|-	1|2	0|0	SHANK2|SHANK2	70183595|70183595	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.837000|0.837000	0.47467|0.47467	7.397000|7.397000	0.79903|0.79903	2.309000|2.309000	0.77851|0.77851	0.655000|0.655000	0.94253|0.94253	GAC|GGA		0.587	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		8	35	1	0	7.48e-07	8.86e-07	8	35				
INPPL1	3636	broad.mit.edu	37	11	71942179	71942179	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:71942179G>A	ENST00000298229.2	+	12	1647	c.1443G>A	c.(1441-1443)tgG>tgA	p.W481*	INPPL1_ENST00000541756.1_Nonsense_Mutation_p.W239*|INPPL1_ENST00000538751.1_Nonsense_Mutation_p.W239*	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	481					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						ACCGCGAGTGGCTGGACCTAC	0.617																																						uc001osf.2		NA																	0				skin(2)|ovary(1)|breast(1)	4						c.(1441-1443)TGG>TGA		inositol polyphosphate phosphatase-like 1							143.0	151.0	148.0					11																	71942179		2200	4293	6493	SO:0001587	stop_gained	3636				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	g.chr11:71942179G>A	Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.1443G>A	11.37:g.71942179G>A	ENSP00000298229:p.Trp481*					INPPL1_uc001osg.2_Nonsense_Mutation_p.W239*	p.W481*	NM_001567	NP_001558	O15357	SHIP2_HUMAN			12	1590	+			481					B2RTX5|Q13577|Q13578	Nonsense_Mutation	SNP	ENST00000298229.2	37	c.1443G>A	CCDS8213.1	.	.	.	.	.	.	.	.	.	.	g	46	12.525414	0.99675	.	.	ENSG00000165458	ENST00000298229;ENST00000541756;ENST00000538751	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.6606	0.91470	0.0:0.0:1.0:0.0	.	.	.	.	X	481;239;239	.	ENSP00000298229:W481X	W	+	3	0	INPPL1	71619827	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.448000	0.97600	2.746000	0.94184	0.655000	0.94253	TGG		0.617	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567		158	263	0	0	0	0	158	263				
DLG2	1740	broad.mit.edu	37	11	84996411	84996411	+	Splice_Site	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:84996411T>A	ENST00000376104.2	-	4	352		c.e4-2		DLG2_ENST00000543673.1_Splice_Site	NM_001142699.1	NP_001136171.1	Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)						nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CTTGGATATCTGTAAAGAAAA	0.313																																						uc001pak.2		NA																	0				ovary(3)|pancreas(2)|skin(1)	6						c.e4-1		chapsyn-110 isoform 1							115.0	106.0	109.0					11																	84996411		1568	3581	5149	SO:0001630	splice_region_variant	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding	g.chr11:84996411T>A	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000376104.2:c.41-2A>T	11.37:g.84996411T>A							p.D14_splice	NM_001142699	NP_001136171	Q15700	DLG2_HUMAN			4	353	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)						B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Splice_Site	SNP	ENST00000376104.2	37	c.41_splice	CCDS44690.1	.	.	.	.	.	.	.	.	.	.	T	18.29	3.591742	0.66219	.	.	ENSG00000150672	ENST00000376104;ENST00000543673;ENST00000546021	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9242	0.79603	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	DLG2	84674059	1.000000	0.71417	0.993000	0.49108	0.616000	0.37450	6.105000	0.71505	2.236000	0.73375	0.519000	0.50382	.		0.313	DLG2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259245.3	NM_001364	Intron	25	77	0	0	0	0	25	77				
FAT3	120114	broad.mit.edu	37	11	92498219	92498219	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:92498219C>A	ENST00000298047.6	+	5	4176	c.4159C>A	c.(4159-4161)Cag>Aag	p.Q1387K	FAT3_ENST00000409404.2_Missense_Mutation_p.Q1387K|FAT3_ENST00000525166.1_Missense_Mutation_p.Q1237K|RP11-203F8.1_ENST00000529884.1_RNA			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1387	Cadherin 13. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)				GGTGTCTGTGCAGCCAGCTAA	0.433										TCGA Ovarian(4;0.039)																												uc001pdj.3		NA																	0				ovary(4)|pancreas(1)	5						c.(4159-4161)CAG>AAG		FAT tumor suppressor homolog 3							97.0	99.0	98.0					11																	92498219		1927	4118	6045	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92498219C>A	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.4159C>A	11.37:g.92498219C>A	ENSP00000298047:p.Gln1387Lys	TCGA Ovarian(4;0.039)					p.Q1387K	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			5	4176	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1387			Cadherin 13.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.4159C>A		.	.	.	.	.	.	.	.	.	.	C	19.49	3.837610	0.71373	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.60548	0.18;0.18;0.18	5.97	5.97	0.96955	.	.	.	.	.	T	0.55016	0.1894	N	0.25332	0.735	0.80722	D	1	P	0.44090	0.826	P	0.45712	0.491	T	0.53500	-0.8430	9	0.45353	T	0.12	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	1387	Q8TDW7-3	.	K	1387;1387;1237	ENSP00000298047:Q1387K;ENSP00000387040:Q1387K;ENSP00000432586:Q1237K	ENSP00000298047:Q1387K	Q	+	1	0	FAT3	92137867	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.636000	0.61339	2.836000	0.97738	0.655000	0.94253	CAG		0.433	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		8	27	1	0	0.00307968	0.00326572	8	27				
IGSF9B	22997	broad.mit.edu	37	11	133790286	133790286	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:133790286G>A	ENST00000321016.8	-	18	3564	c.3334C>T	c.(3334-3336)Cct>Tct	p.P1112S	IGSF9B_ENST00000533871.2_Missense_Mutation_p.P1112S			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1112	Pro-rich.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GCTGGGACAGGGCCCCTGCCG	0.682																																						uc001qgx.3		NA																	0					0						c.(3334-3336)CCT>TCT		immunoglobulin superfamily, member 9B							27.0	31.0	30.0					11																	133790286		1915	4101	6016	SO:0001583	missense	22997					integral to membrane|plasma membrane		g.chr11:133790286G>A	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.3334C>T	11.37:g.133790286G>A	ENSP00000317980:p.Pro1112Ser						p.P1112S	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	18	3565	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	1112			Pro-rich.|Cytoplasmic (Potential).		G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37	c.3334C>T		.	.	.	.	.	.	.	.	.	.	G	13.04	2.117471	0.37339	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.64438	0.23;-0.1	5.15	3.26	0.37387	.	0.000000	0.44285	D	0.000465	T	0.43299	0.1241	N	0.14661	0.345	0.27382	N	0.955399	B	0.06786	0.001	B	0.08055	0.003	T	0.44802	-0.9304	10	0.72032	D	0.01	.	10.5231	0.44931	0.1592:0.0:0.8408:0.0	.	1112	Q9UPX0	TUTLB_HUMAN	S	1112;954	ENSP00000317980:P1112S;ENSP00000436552:P954S	ENSP00000317980:P1112S	P	-	1	0	IGSF9B	133295496	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	3.695000	0.54749	1.162000	0.42619	0.455000	0.32223	CCT		0.682	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		5	59	0	0	0	0	5	59				
CACNA2D4	93589	broad.mit.edu	37	12	1995443	1995443	+	Silent	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:1995443G>T	ENST00000382722.5	-	8	1301	c.939C>A	c.(937-939)acC>acA	p.T313T	CACNA2D4_ENST00000586184.1_Silent_p.T313T|CACNA2D4_ENST00000587995.1_Silent_p.T313T|CACNA2D4_ENST00000585708.1_Silent_p.T249T|CACNA2D4_ENST00000588077.1_Silent_p.T249T|CACNA2D4_ENST00000585732.1_Intron	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	313	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TGGTGGTGATGGTGTGCTTGG	0.473																																					Colon(2;101 179 21030 23310 28141)	uc001qjp.2		NA																	0				ovary(1)	1						c.(937-939)ACC>ACA		voltage-gated calcium channel alpha(2)delta-4							166.0	166.0	166.0					12																	1995443		2117	4237	6354	SO:0001819	synonymous_variant	93589					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr12:1995443G>T	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.939C>A	12.37:g.1995443G>T						CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Intron	p.T313T	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)	8	1170	-	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	313			VWFA.|Extracellular (Potential).		Q7Z3S8|Q86XZ5|Q8IZS9	Silent	SNP	ENST00000382722.5	37	c.939C>A	CCDS44785.1																																																																																				0.473	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			11	79	1	0	7.04e-09	8.68e-09	11	79				
CHD4	1108	broad.mit.edu	37	12	6690915	6690915	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:6690915G>C	ENST00000357008.2	-	31	4744	c.4581C>G	c.(4579-4581)aaC>aaG	p.N1527K	CHD4_ENST00000309577.6_Missense_Mutation_p.N1555K|CHD4_ENST00000540960.1_5'Flank|SCARNA11_ENST00000516089.1_RNA|CHD4_ENST00000544040.1_Missense_Mutation_p.N1520K|CHD4_ENST00000544484.1_Missense_Mutation_p.N1552K|RP5-940J5.6_ENST00000501075.2_RNA	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1527					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						ACATCTTCTTGTTTTCCTCCA	0.547																																					Colon(32;586 792 4568 16848 45314)	uc001qpo.2		NA																	0				central_nervous_system(2)	2						c.(4579-4581)AAC>AAG		chromodomain helicase DNA binding protein 4							187.0	181.0	183.0					12																	6690915		2203	4300	6503	SO:0001583	missense	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6690915G>C	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.4581C>G	12.37:g.6690915G>C	ENSP00000349508:p.Asn1527Lys					CHD4_uc001qpn.2_Missense_Mutation_p.N1520K|CHD4_uc001qpp.2_Missense_Mutation_p.N1552K|uc001qpq.1_Intron|SCARNA11_uc001qpr.1_5'Flank	p.N1527K	NM_001273	NP_001264	Q14839	CHD4_HUMAN			31	4745	-			1527					Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.4581C>G	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	G	8.754	0.922023	0.17982	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.89810	-2.57;-2.54;-2.57;-2.54	5.76	2.99	0.34606	.	0.052176	0.85682	D	0.000000	D	0.86875	0.6038	M	0.66939	2.045	0.48975	D	0.999734	P;P;P	0.52061	0.95;0.937;0.728	P;B;B	0.48334	0.574;0.155;0.164	D	0.83656	0.0158	10	0.05721	T	0.95	-13.2306	11.0182	0.47703	0.2002:0.0:0.7998:0.0	.	1555;1527;1520	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	K	1552;1520;1555;1527;1501	ENSP00000440392:N1552K;ENSP00000440542:N1520K;ENSP00000312419:N1555K;ENSP00000349508:N1527K	ENSP00000312419:N1555K	N	-	3	2	CHD4	6561176	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.878000	0.48515	0.380000	0.24823	0.655000	0.94253	AAC		0.547	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		54	193	0	0	0	0	54	193				
LRRC23	10233	broad.mit.edu	37	12	7016479	7016479	+	Splice_Site	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:7016479G>A	ENST00000007969.8	+	5	711	c.491G>A	c.(490-492)gGg>gAg	p.G164E	LRRC23_ENST00000433346.1_Splice_Site_p.G164E|LRRC23_ENST00000436789.1_Splice_Site_p.G164E|LRRC23_ENST00000443597.2_Splice_Site_p.G164E|LRRC23_ENST00000429740.1_Intron|LRRC23_ENST00000323702.5_Splice_Site_p.G164E	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23	164										NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						TCCTCCCCAGGGAACAGCATC	0.547																																						uc001qrt.3		NA																	0				ovary(1)	1						c.(490-492)GGG>GAG		leucine rich repeat containing 23 isoform a							122.0	125.0	124.0					12																	7016479		2203	4300	6503	SO:0001630	splice_region_variant	10233							g.chr12:7016479G>A	BC014450	CCDS8568.1, CCDS8569.1	12p13	2006-02-02			ENSG00000010626	ENSG00000010626			19138	protein-coding gene	gene with protein product						11830501, 11826754	Standard	NM_201650		Approved	B7, LRPB7	uc001qrp.3	Q53EV4	OTTHUMG00000156668	ENST00000007969.8:c.491-1G>A	12.37:g.7016479G>A						LRRC23_uc001qrn.1_Missense_Mutation_p.G164E|LRRC23_uc001qrp.2_Missense_Mutation_p.G164E|LRRC23_uc001qrq.2_Missense_Mutation_p.G164E|LRRC23_uc001qrr.2_Missense_Mutation_p.G113E|LRRC23_uc001qrs.2_Missense_Mutation_p.G113E|LRRC23_uc009zfh.2_Intron	p.G164E	NM_001135217	NP_001128689	Q53EV4	LRC23_HUMAN			5	883	+			164			LRR 4.		A8K8C6|D3DUT1|Q8N6K6|Q92977|Q99620	Missense_Mutation	SNP	ENST00000007969.8	37	c.491G>A	CCDS8569.1	.	.	.	.	.	.	.	.	.	.	G	9.844	1.191823	0.21954	.	.	ENSG00000010626	ENST00000433346;ENST00000007969;ENST00000323702;ENST00000443597;ENST00000436789	T;T;T;T;T	0.26223	1.91;1.75;2.14;1.75;2.09	5.59	5.59	0.84812	.	.	.	.	.	T	0.29716	0.0742	L	0.58354	1.805	0.80722	D	1	B;P;P;P;P	0.48640	0.063;0.858;0.913;0.539;0.777	B;B;B;B;B	0.43990	0.05;0.271;0.438;0.057;0.199	T	0.02059	-1.1221	8	.	.	.	.	13.0789	0.59102	0.0763:0.0:0.9237:0.0	.	164;164;164;164;164	C9JEW3;A8K8K2;Q53EV4-2;Q53EV4;C9JKE8	.;.;.;LRC23_HUMAN;.	E	164	ENSP00000402554:G164E;ENSP00000007969:G164E;ENSP00000317464:G164E;ENSP00000390932:G164E;ENSP00000396049:G164E	.	G	+	2	0	LRRC23	6886740	1.000000	0.71417	0.826000	0.32828	0.093000	0.18481	5.800000	0.69108	2.624000	0.88883	0.462000	0.41574	GGG		0.547	LRRC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345214.1	NM_006992	Missense_Mutation	118	187	0	0	0	0	118	187				
PDE3A	5139	broad.mit.edu	37	12	20769239	20769239	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:20769239G>T	ENST00000359062.3	+	4	1385	c.1345G>T	c.(1345-1347)Ggt>Tgt	p.G449C	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	449					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	CTCGGCCACAGGTCTACCCAC	0.562																																						uc001reh.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(1345-1347)GGT>TGT		phosphodiesterase 3A	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						130.0	116.0	121.0					12																	20769239		2203	4300	6503	SO:0001583	missense	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20769239G>T		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.1345G>T	12.37:g.20769239G>T	ENSP00000351957:p.Gly449Cys						p.G449C	NM_000921	NP_000912	Q14432	PDE3A_HUMAN			4	1367	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	449					O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.1345G>T	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.397139	0.83120	.	.	ENSG00000172572	ENST00000359062	T	0.54479	0.57	5.43	5.43	0.79202	.	0.652152	0.16372	N	0.217290	T	0.74168	0.3681	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74965	-0.3484	10	0.72032	D	0.01	.	19.5966	0.95541	0.0:0.0:1.0:0.0	.	449	Q14432	PDE3A_HUMAN	C	449	ENSP00000351957:G449C	ENSP00000351957:G449C	G	+	1	0	PDE3A	20660506	1.000000	0.71417	0.998000	0.56505	0.590000	0.36582	8.985000	0.93487	2.698000	0.92095	0.655000	0.94253	GGT		0.562	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			73	102	1	0	5.02e-34	7.48e-34	73	102				
SLCO1B1	10599	broad.mit.edu	37	12	21375295	21375295	+	Silent	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:21375295C>T	ENST00000256958.2	+	13	1840	c.1744C>T	c.(1744-1746)Cta>Tta	p.L582L		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	582					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	TATACGAGCACTAGGTATGAT	0.234																																						uc001req.3		NA																	0				ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8						c.(1744-1746)CTA>TTA		solute carrier organic anion transporter family,	Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)						92.0	85.0	87.0					12																	21375295		2203	4299	6502	SO:0001819	synonymous_variant	10599				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	g.chr12:21375295C>T		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.1744C>T	12.37:g.21375295C>T							p.L582L	NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN			13	1848	+			582			Helical; Name=11; (Potential).		B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Silent	SNP	ENST00000256958.2	37	c.1744C>T	CCDS8685.1																																																																																				0.234	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446		22	69	0	0	0	0	22	69				
MCRS1	10445	broad.mit.edu	37	12	49952509	49952509	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:49952509C>T	ENST00000550165.1	-	16	1572	c.1306G>A	c.(1306-1308)Gcc>Acc	p.A436T	MCRS1_ENST00000547182.1_5'UTR|MCRS1_ENST00000357123.4_Missense_Mutation_p.A449T|MCRS1_ENST00000343810.4_Missense_Mutation_p.A436T|MCRS1_ENST00000546244.1_Missense_Mutation_p.A245T			Q96EZ8	MCRS1_HUMAN	microspherule protein 1	436					cellular protein modification process (GO:0006464)|chromatin organization (GO:0006325)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|Ino80 complex (GO:0031011)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						CGCAGGCTGGCGATCTGGGTG	0.577																																						uc001ruk.1		NA																	0				large_intestine(1)	1						c.(1306-1308)GCC>ACC		microspherule protein 1 isoform 1							99.0	78.0	85.0					12																	49952509		2203	4300	6503	SO:0001583	missense	10445				DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|MLL1 complex|nucleolus	protein binding	g.chr12:49952509C>T	BC011794	CCDS8787.1, CCDS31795.1, CCDS61118.1	12q13.12	2011-07-06				ENSG00000187778		"""INO80 complex subunits"""	6960	protein-coding gene	gene with protein product	"""INO80 complex subunit Q"""	609504				9765390, 9654073	Standard	NM_006337		Approved	ICP22BP, MSP58, P78, MCRS2, INO80Q	uc001rui.1	Q96EZ8		ENST00000550165.1:c.1306G>A	12.37:g.49952509C>T	ENSP00000448056:p.Ala436Thr					MCRS1_uc001rui.1_Missense_Mutation_p.A449T|MCRS1_uc001ruj.1_Missense_Mutation_p.A423T|MCRS1_uc001rul.1_Missense_Mutation_p.A436T|MCRS1_uc009zlj.1_Missense_Mutation_p.A245T|MCRS1_uc001rum.1_Missense_Mutation_p.A423T	p.A436T	NM_006337	NP_006328	Q96EZ8	MCRS1_HUMAN			15	1497	-			436					O14742|O75497|Q6VN53|Q7Z372	Missense_Mutation	SNP	ENST00000550165.1	37	c.1306G>A	CCDS8787.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297266	0.60086	.	.	ENSG00000187778	ENST00000546244;ENST00000343810;ENST00000550165;ENST00000357123	D;D;D;D	0.90324	-2.65;-2.65;-2.65;-2.65	5.23	5.23	0.72850	Forkhead-associated (FHA) domain (1);SMAD/FHA domain (1);	0.050493	0.85682	D	0.000000	D	0.88876	0.6556	M	0.74881	2.28	0.49798	D	0.999827	P;P	0.49635	0.701;0.926	B;B	0.39805	0.181;0.31	D	0.89486	0.3753	10	0.59425	D	0.04	-23.1463	11.3072	0.49342	0.1814:0.8186:0.0:0.0	.	436;449	Q96EZ8;Q96EZ8-2	MCRS1_HUMAN;.	T	245;436;436;449	ENSP00000444982:A245T;ENSP00000345358:A436T;ENSP00000448056:A436T;ENSP00000349640:A449T	ENSP00000345358:A436T	A	-	1	0	MCRS1	48238776	0.999000	0.42202	0.998000	0.56505	0.713000	0.41058	4.182000	0.58310	2.746000	0.94184	0.644000	0.83932	GCC		0.577	MCRS1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405102.1	NM_006337		41	79	0	0	0	0	41	79				
KRT2	3849	broad.mit.edu	37	12	53045402	53045402	+	Silent	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:53045402C>T	ENST00000309680.3	-	1	546	c.525G>A	c.(523-525)aaG>aaA	p.K175K		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	175	Head.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		GCTCTTGGGCCTTCACATTCT	0.532																																						uc001sat.2		NA																	0				ovary(2)	2						c.(523-525)AAG>AAA		keratin 2							150.0	144.0	146.0					12																	53045402		2203	4300	6503	SO:0001819	synonymous_variant	3849				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:53045402C>T		CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6439	protein-coding gene	gene with protein product	"""epidermal ichthyosis bullosa of Siemens"""	600194	"""keratin 2A (epidermal ichthyosis bullosa of Siemens)"""	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.525G>A	12.37:g.53045402C>T							p.K175K	NM_000423	NP_000414	P35908	K22E_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.19)	1	558	-			175			Head.		Q4VAQ2	Silent	SNP	ENST00000309680.3	37	c.525G>A	CCDS8835.1																																																																																				0.532	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423		62	156	0	0	0	0	62	156				
KIF5A	3798	broad.mit.edu	37	12	57974825	57974825	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:57974825G>A	ENST00000455537.2	+	24	2899	c.2625G>A	c.(2623-2625)ctG>ctA	p.L875L	KIF5A_ENST00000286452.5_Silent_p.L786L	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	875					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						TTAAGGCCCTGGAGGGTGCAC	0.572																																						uc001sor.1		NA																	0				ovary(2)|skin(1)	3						c.(2623-2625)CTG>CTA		kinesin family member 5A							56.0	52.0	53.0					12																	57974825		2203	4300	6503	SO:0001819	synonymous_variant	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57974825G>A	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.2625G>A	12.37:g.57974825G>A						KIF5A_uc010srr.1_Silent_p.L786L	p.L875L	NM_004984	NP_004975	Q12840	KIF5A_HUMAN			24	2833	+			875					A6H8M5|Q4LE26	Silent	SNP	ENST00000455537.2	37	c.2625G>A	CCDS8945.1																																																																																				0.572	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		19	49	0	0	0	0	19	49				
AVPR1A	552	broad.mit.edu	37	12	63544528	63544528	+	Missense_Mutation	SNP	C	C	G	rs569407663		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:63544528C>G	ENST00000299178.2	-	1	194	c.89G>C	c.(88-90)cGg>cCg	p.R30P		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	30					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	TTCGGCCTCCCGGCTTGTGTT	0.706													C|||	1	0.000199681	0.0	0.0014	5008	,	,		15843	0.0		0.0	False		,,,				2504	0.0					uc001sro.1		NA																	0					0						c.(88-90)CGG>CCG		arginine vasopressin receptor 1A	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)						25.0	24.0	25.0					12																	63544528		2068	4091	6159	SO:0001583	missense	552				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr12:63544528C>G	L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.89G>C	12.37:g.63544528C>G	ENSP00000299178:p.Arg30Pro						p.R30P	NM_000706	NP_000697	P37288	V1AR_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	1	2063	-			30			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000299178.2	37	c.89G>C	CCDS8965.1	.	.	.	.	.	.	.	.	.	.	C	9.447	1.089590	0.20390	.	.	ENSG00000166148	ENST00000299178	T	0.59364	0.27	5.33	-7.09	0.01553	.	2.383820	0.01534	N	0.018933	T	0.34513	0.0900	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.08638	-1.0712	9	.	.	.	-2.3906	0.233	0.00182	0.3458:0.1566:0.2291:0.2685	.	30	P37288	V1AR_HUMAN	P	30	ENSP00000299178:R30P	.	R	-	2	0	AVPR1A	61830795	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.095000	0.15127	-0.997000	0.03450	-1.618000	0.00794	CGG		0.706	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1			23	91	0	0	0	0	23	91				
ZDHHC17	23390	broad.mit.edu	37	12	77216208	77216208	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:77216208C>A	ENST00000426126.2	+	8	1443	c.794C>A	c.(793-795)gCa>gAa	p.A265E	ZDHHC17_ENST00000334822.5_Missense_Mutation_p.A265E	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	265					lipoprotein transport (GO:0042953)|magnesium ion transport (GO:0015693)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein palmitoylation (GO:0018345)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						CTTGATTTGGCAAAACAGAGA	0.363																																						uc001syk.1		NA																	0					0						c.(793-795)GCA>GAA		huntingtin interacting protein 14							79.0	73.0	75.0					12																	77216208		1845	4103	5948	SO:0001583	missense	23390				lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding	g.chr12:77216208C>A	AB023163	CCDS44946.1	12q21.2	2013-01-10				ENSG00000186908		"""Zinc fingers, DHHC-type"", ""Ankyrin repeat domain containing"""	18412	protein-coding gene	gene with protein product		607799				9700202, 18794299	Standard	NM_015336		Approved	HIP14, HYPH, KIAA0946	uc001syk.1	Q8IUH5	OTTHUMG00000169917	ENST00000426126.2:c.794C>A	12.37:g.77216208C>A	ENSP00000403397:p.Ala265Glu					ZDHHC17_uc001syi.1_RNA|ZDHHC17_uc001syj.2_RNA	p.A265E	NM_015336	NP_056151	Q8IUH5	ZDH17_HUMAN			8	957	+			265			Cytoplasmic (Potential).		B4DR39|O75407|Q7Z2I0|Q86W89|Q86YK0|Q9P088|Q9UPZ8	Missense_Mutation	SNP	ENST00000426126.2	37	c.794C>A	CCDS44946.1	.	.	.	.	.	.	.	.	.	.	C	34	5.318680	0.95682	.	.	ENSG00000186908	ENST00000426126;ENST00000334822;ENST00000550876	T;T;D	0.82167	-0.84;-0.84;-1.58	6.06	6.06	0.98353	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.95050	0.8397	H	0.98256	4.185	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.95174	0.8293	10	0.48119	T	0.1	-14.799	20.6397	0.99537	0.0:1.0:0.0:0.0	.	265	Q8IUH5	ZDH17_HUMAN	E	265;265;102	ENSP00000403397:A265E;ENSP00000334868:A265E;ENSP00000449734:A102E	ENSP00000334868:A265E	A	+	2	0	ZDHHC17	75740339	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.743000	0.85020	2.880000	0.98712	0.650000	0.86243	GCA		0.363	ZDHHC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406555.1	NM_015336		19	46	1	0	1.98e-07	2.38e-07	19	46				
NAV3	89795	broad.mit.edu	37	12	78444924	78444924	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:78444924G>C	ENST00000397909.2	+	11	2686	c.2513G>C	c.(2512-2514)aGt>aCt	p.S838T	NAV3_ENST00000266692.7_Missense_Mutation_p.S838T|RP11-136F16.1_ENST00000549103.1_RNA|NAV3_ENST00000536525.2_Missense_Mutation_p.S838T|NAV3_ENST00000228327.6_Missense_Mutation_p.S838T			Q8IVL0	NAV3_HUMAN	neuron navigator 3	838						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GACATCAACAGTGGGTAAGTA	0.453										HNSCC(70;0.22)																												uc001syp.2		NA																	0				large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(2512-2514)AGT>ACT		neuron navigator 3							65.0	64.0	64.0					12																	78444924		2030	4201	6231	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78444924G>C	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.2513G>C	12.37:g.78444924G>C	ENSP00000381007:p.Ser838Thr	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.S838T|NAV3_uc010sub.1_Missense_Mutation_p.S338T	p.S838T	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			11	2686	+			838					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.2513G>C		.	.	.	.	.	.	.	.	.	.	G	25.6	4.654483	0.88056	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T	0.35789	1.42;1.5;1.43;1.29	5.79	5.79	0.91817	.	0.000000	0.47093	U	0.000241	T	0.54727	0.1876	L	0.39245	1.2	0.80722	D	1	B;B;D	0.71674	0.435;0.296;0.998	B;B;D	0.78314	0.099;0.041;0.991	T	0.54351	-0.8307	10	0.87932	D	0	-19.0243	20.031	0.97536	0.0:0.0:1.0:0.0	.	838;838;838	E7EUC6;Q8IVL0;Q8IVL0-2	.;NAV3_HUMAN;.	T	838	ENSP00000446132:S838T;ENSP00000381007:S838T;ENSP00000228327:S838T;ENSP00000266692:S838T	ENSP00000228327:S838T	S	+	2	0	NAV3	76969055	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.365000	0.97139	2.735000	0.93741	0.655000	0.94253	AGT		0.453	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		32	66	0	0	0	0	32	66				
ACSS3	79611	broad.mit.edu	37	12	81610681	81610681	+	Splice_Site	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:81610681G>T	ENST00000548058.1	+	10	2266	c.1356G>T	c.(1354-1356)gaG>gaT	p.E452D	ACSS3_ENST00000548324.1_Splice_Site_p.E134D|ACSS3_ENST00000261206.3_Splice_Site_p.E451D			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	452						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TTTTTCCAGAGACTGGATCTC	0.408																																						uc001szl.1		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(1354-1356)GAG>GAT		acyl-CoA synthetase short-chain family member 3							101.0	95.0	97.0					12																	81610681		2203	4300	6503	SO:0001630	splice_region_variant	79611					mitochondrion	acetate-CoA ligase activity|ATP binding	g.chr12:81610681G>T		CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.1355-1G>T	12.37:g.81610681G>T						ACSS3_uc001szm.1_Missense_Mutation_p.E451D|ACSS3_uc001szn.1_Missense_Mutation_p.E134D	p.E452D	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN			10	1447	+			452					Q8NC66	Missense_Mutation	SNP	ENST00000548058.1	37	c.1356G>T	CCDS9022.1	.	.	.	.	.	.	.	.	.	.	.	18.14	3.557598	0.65425	.	.	ENSG00000111058	ENST00000548058;ENST00000261206;ENST00000548324	T;T;T	0.80994	-1.44;-1.44;-1.44	5.62	0.769	0.18492	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	D	0.92545	0.7632	H	0.99117	4.435	0.51482	D	0.999924	D;D	0.89917	1.0;0.998	D;D	0.80764	0.994;0.924	D	0.90384	0.4390	10	0.87932	D	0	.	8.3596	0.32351	0.5579:0.0:0.4421:0.0	.	134;452	Q9H6R3-2;Q9H6R3	.;ACSS3_HUMAN	D	452;451;134	ENSP00000449535:E452D;ENSP00000261206:E451D;ENSP00000448965:E134D	ENSP00000261206:E451D	E	+	3	2	ACSS3	80134812	1.000000	0.71417	0.999000	0.59377	0.892000	0.51952	1.286000	0.33273	0.068000	0.16574	0.655000	0.94253	GAG		0.408	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	NM_024560	Missense_Mutation	20	92	1	0	8.05e-18	1.11e-17	20	92				
MRPL42	28977	broad.mit.edu	37	12	93873224	93873224	+	Silent	SNP	G	G	C	rs199806970		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:93873224G>C	ENST00000549982.1	+	4	356	c.195G>C	c.(193-195)gtG>gtC	p.V65V	MRPL42_ENST00000547098.1_Silent_p.V65V|MRPL42_ENST00000393128.4_Silent_p.V65V|MRPL42_ENST00000361630.2_Silent_p.V65V|MRPL42_ENST00000548545.1_Silent_p.V65V|MRPL42_ENST00000552217.1_Silent_p.V65V	NM_014050.3|NM_172177.3	NP_054769.1|NP_751917.1	Q9Y6G3	RM42_HUMAN	mitochondrial ribosomal protein L42	65					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)	7						ACCCTTCTGTGGACATTCCAT	0.328																																						uc001tcr.2		NA																	0				ovary(2)	2						c.(193-195)GTG>GTC		mitochondrial ribosomal protein L42 isoform a							81.0	78.0	79.0					12																	93873224		2203	4300	6503	SO:0001819	synonymous_variant	28977				translation	mitochondrial small ribosomal subunit	structural constituent of ribosome	g.chr12:93873224G>C	AB051626	CCDS9045.1	12q22	2014-02-12			ENSG00000198015	ENSG00000198015		"""Mitochondrial ribosomal proteins / large subunits"", ""Mitochondrial ribosomal proteins / small subunits"""	14493	protein-coding gene	gene with protein product	"""mitochondrial ribosomal protein S32"""	611847				11279123, 11042152	Standard	NM_014050		Approved	MRPS32, MRP-L31, RPML31, PTD007, HSPC204, MRPL31	uc001tcr.3	Q9Y6G3	OTTHUMG00000170157	ENST00000549982.1:c.195G>C	12.37:g.93873224G>C						MRPL42_uc001tcq.2_Silent_p.V65V|MRPL42_uc001tcs.2_Silent_p.V65V|MRPL42_uc001tct.2_RNA	p.V65V	NM_172177	NP_751917	Q9Y6G3	RM42_HUMAN			4	353	+			65					Q6FID1|Q96Q48|Q9P0S1	Silent	SNP	ENST00000549982.1	37	c.195G>C	CCDS9045.1																																																																																				0.328	MRPL42-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407715.1	NM_014050		33	68	0	0	0	0	33	68				
SLC41A2	84102	broad.mit.edu	37	12	105260337	105260337	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:105260337G>T	ENST00000258538.3	-	6	1175	c.1048C>A	c.(1048-1050)Cca>Aca	p.P350T		NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN	solute carrier family 41 (magnesium transporter), member 2	350					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						CCAACTAATGGAGAAATGTAG	0.343																																					Esophageal Squamous(195;176 2919 4272 35572)	uc001tla.2		NA																	0				ovary(1)|skin(1)	2						c.(1048-1050)CCA>ACA		solute carrier family 41, member 2							56.0	60.0	59.0					12																	105260337		2203	4300	6503	SO:0001583	missense	84102					integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity	g.chr12:105260337G>T	BC036734	CCDS9100.2	12q24.11	2013-07-17	2013-07-17		ENSG00000136052	ENSG00000136052		"""Solute carriers"""	31045	protein-coding gene	gene with protein product		610802	"""solute carrier family 41, member 2"""				Standard	NM_032148		Approved	DKFZP434K0427	uc001tla.3	Q96JW4	OTTHUMG00000156965	ENST00000258538.3:c.1048C>A	12.37:g.105260337G>T	ENSP00000258538:p.Pro350Thr						p.P350T	NM_032148	NP_115524	Q96JW4	S41A2_HUMAN			6	1215	-			350			Helical; (Potential).		Q3KP68|Q9H0E5	Missense_Mutation	SNP	ENST00000258538.3	37	c.1048C>A	CCDS9100.2	.	.	.	.	.	.	.	.	.	.	G	12.47	1.947422	0.34377	.	.	ENSG00000136052	ENST00000258538	T	0.32988	1.43	5.98	5.98	0.97165	.	0.105281	0.64402	D	0.000002	T	0.42899	0.1223	M	0.86178	2.8	0.47994	D	0.999565	B	0.20887	0.049	B	0.16722	0.016	T	0.37663	-0.9696	10	0.22109	T	0.4	-1.8657	20.452	0.99131	0.0:0.0:1.0:0.0	.	350	Q96JW4	S41A2_HUMAN	T	350	ENSP00000258538:P350T	ENSP00000258538:P350T	P	-	1	0	SLC41A2	103784467	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.070000	0.71220	2.838000	0.97847	0.591000	0.81541	CCA		0.343	SLC41A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346850.3	NM_032148		40	71	1	0	4.92e-23	7.02e-23	40	71				
BTBD11	121551	broad.mit.edu	37	12	108051315	108051315	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:108051315T>A	ENST00000280758.5	+	17	3663	c.3135T>A	c.(3133-3135)taT>taA	p.Y1045*	BTBD11_ENST00000357167.4_Nonsense_Mutation_p.Y582*|BTBD11_ENST00000420571.2_Nonsense_Mutation_p.Y926*|BTBD11_ENST00000494235.2_Nonsense_Mutation_p.Y124*	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	1045						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TCTCAGCATATTGCGAAGGCT	0.463																																						uc001tmk.1		NA																	0				skin(2)|ovary(1)	3						c.(3133-3135)TAT>TAA		BTB (POZ) domain containing 11 isoform a							92.0	86.0	88.0					12																	108051315		2203	4300	6503	SO:0001587	stop_gained	121551					integral to membrane	DNA binding	g.chr12:108051315T>A	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.3135T>A	12.37:g.108051315T>A	ENSP00000280758:p.Tyr1045*					BTBD11_uc001tml.1_Nonsense_Mutation_p.Y582*|BTBD11_uc001tmm.1_Nonsense_Mutation_p.Y124*	p.Y1045*	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN			17	3656	+			1045					A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Nonsense_Mutation	SNP	ENST00000280758.5	37	c.3135T>A	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.794112	0.90453	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000357167;ENST00000494235	.	.	.	5.84	-3.35	0.04928	.	0.111962	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3476	0.60582	0.0:0.3139:0.0:0.6861	.	.	.	.	X	1045;926;582;124	.	ENSP00000280758:Y1045X	Y	+	3	2	BTBD11	106575445	0.902000	0.30710	0.294000	0.24946	0.938000	0.57974	-0.007000	0.12810	-0.436000	0.07254	-0.242000	0.12053	TAT		0.463	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		33	66	0	0	0	0	33	66				
KSR2	283455	broad.mit.edu	37	12	118198938	118198938	+	Silent	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:118198938C>T	ENST00000339824.5	-	4	1591	c.864G>A	c.(862-864)ccG>ccA	p.P288P	KSR2_ENST00000425217.1_Silent_p.P259P			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	288	Pro-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGGGGTCCCCGGGGGCTTCA	0.682																																						uc001two.2		NA																	0				lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15						c.(775-777)CCG>CCA		kinase suppressor of ras 2							101.0	121.0	114.0					12																	118198938		1887	4102	5989	SO:0001819	synonymous_variant	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:118198938C>T	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.864G>A	12.37:g.118198938C>T							p.P259P	NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN			4	832	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		288			Pro-rich.		A0PJT2|Q3B828|Q8N775	Silent	SNP	ENST00000339824.5	37	c.777G>A																																																																																					0.682	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		70	425	0	0	0	0	70	425				
ACADS	35	broad.mit.edu	37	12	121175737	121175737	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:121175737G>C	ENST00000242592.4	+	5	721	c.570G>C	c.(568-570)tgG>tgC	p.W190C	RP11-173P15.7_ENST00000542620.1_RNA|ACADS_ENST00000411593.2_Intron	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	190					butyrate catabolic process (GO:0046359)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|protein homotetramerization (GO:0051289)|response to glucocorticoid (GO:0051384)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|butyryl-CoA dehydrogenase activity (GO:0004085)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			Flavin adenine dinucleotide(DB03147)	CCAATGCCTGGGAGGCTTCGG	0.642																																						uc001tza.3		NA																	0				central_nervous_system(2)	2						c.(568-570)TGG>TGC		short-chain acyl-CoA dehydrogenase precursor	NADH(DB00157)						60.0	61.0	61.0					12																	121175737		2203	4300	6503	SO:0001583	missense	35					mitochondrial matrix	butyryl-CoA dehydrogenase activity	g.chr12:121175737G>C	M26393	CCDS9207.1	12q24.31	2012-07-13	2010-04-30		ENSG00000122971	ENSG00000122971	1.3.8.1		90	protein-coding gene	gene with protein product		606885	"""acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain"""			2565344	Standard	NM_000017		Approved	SCAD, ACAD3	uc001tza.4	P16219	OTTHUMG00000169203	ENST00000242592.4:c.570G>C	12.37:g.121175737G>C	ENSP00000242592:p.Trp190Cys					ACADS_uc010szl.1_Intron|ACADS_uc001tzb.3_Missense_Mutation_p.W117C	p.W190C	NM_000017	NP_000008	P16219	ACADS_HUMAN			5	688	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)	190					P78331	Missense_Mutation	SNP	ENST00000242592.4	37	c.570G>C	CCDS9207.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.171437	0.78452	.	.	ENSG00000122971	ENST00000242592	D	0.95001	-3.58	4.95	4.95	0.65309	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (2);	0.000000	0.85682	D	0.000000	D	0.87541	0.6203	N	0.11560	0.145	0.80722	D	1	P;P	0.43578	0.811;0.811	B;B	0.34991	0.193;0.193	D	0.89856	0.4013	10	0.59425	D	0.04	.	18.1749	0.89758	0.0:0.0:1.0:0.0	.	190;190	E5KSD5;P16219	.;ACADS_HUMAN	C	190	ENSP00000242592:W190C	ENSP00000242592:W190C	W	+	3	0	ACADS	119660120	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.400000	0.97290	2.288000	0.76882	0.462000	0.41574	TGG		0.642	ACADS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402861.1	NM_000017		29	82	0	0	0	0	29	82				
PITPNM2	57605	broad.mit.edu	37	12	123494588	123494588	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:123494588T>A	ENST00000542749.1	-	4	515	c.452A>T	c.(451-453)aAc>aTc	p.N151I	PITPNM2_ENST00000280562.5_Missense_Mutation_p.N151I|PITPNM2_ENST00000546049.1_Missense_Mutation_p.N151I|MIR4304_ENST00000580964.1_RNA|PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000320201.4_Missense_Mutation_p.N151I|PITPNM2_ENST00000392428.1_Intron			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	151					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CTTATACTCGTTGTGGGGCAC	0.557																																						uc001uej.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(451-453)AAC>ATC		phosphatidylinositol transfer protein,							98.0	100.0	99.0					12																	123494588		2203	4300	6503	SO:0001583	missense	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123494588T>A	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.452A>T	12.37:g.123494588T>A	ENSP00000437611:p.Asn151Ile					PITPNM2_uc001uek.1_Missense_Mutation_p.N151I|PITPNM2_uc009zxu.1_Missense_Mutation_p.N151I	p.N151I	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	5	591	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		151					Q9P271	Missense_Mutation	SNP	ENST00000542749.1	37	c.452A>T	CCDS9242.1	.	.	.	.	.	.	.	.	.	.	T	13.70	2.316707	0.40996	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000542749	T;T;T	0.42131	0.98;0.98;0.98	4.96	-0.0216	0.13951	START-like domain (1);	0.363372	0.30742	N	0.008963	T	0.28995	0.0720	L	0.36672	1.1	0.28796	N	0.899069	B;B;B	0.18013	0.009;0.002;0.025	B;B;B	0.19946	0.027;0.009;0.024	T	0.16012	-1.0417	10	0.42905	T	0.14	-7.7561	8.6528	0.34044	0.0:0.3076:0.0:0.6924	.	151;151;151	A5D8U3;Q9BZ72-2;Q9BZ72	.;.;PITM2_HUMAN	I	151	ENSP00000280562:N151I;ENSP00000322218:N151I;ENSP00000437611:N151I	ENSP00000280562:N151I	N	-	2	0	PITPNM2	122060541	0.166000	0.22962	0.022000	0.16811	0.730000	0.41778	1.018000	0.30002	-0.163000	0.10946	0.533000	0.62120	AAC		0.557	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		91	197	0	0	0	0	91	197				
TMEM132B	114795	broad.mit.edu	37	12	126138491	126138491	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:126138491G>A	ENST00000299308.3	+	9	2480	c.2472G>A	c.(2470-2472)caG>caA	p.Q824Q	TMEM132B_ENST00000535886.1_Silent_p.Q336Q	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	824						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AAGGAAACCAGGAGAGAGCAG	0.502																																						uc001uhe.1		NA																	0				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19						c.(2470-2472)CAG>CAA		transmembrane protein 132B							67.0	69.0	68.0					12																	126138491		2010	4153	6163	SO:0001819	synonymous_variant	114795					integral to membrane		g.chr12:126138491G>A	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.2472G>A	12.37:g.126138491G>A						TMEM132B_uc001uhf.1_Silent_p.Q336Q	p.Q824Q	NM_052907	NP_443139	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	9	2480	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		824			Extracellular (Potential).		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Silent	SNP	ENST00000299308.3	37	c.2472G>A	CCDS41859.1																																																																																				0.502	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		32	111	0	0	0	0	32	111				
TNFRSF19	55504	broad.mit.edu	37	13	24233278	24233278	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr13:24233278G>A	ENST00000382258.4	+	6	739	c.535G>A	c.(535-537)Gcc>Acc	p.A179T	TNFRSF19_ENST00000382263.3_Missense_Mutation_p.A179T|TNFRSF19_ENST00000403372.2_Missense_Mutation_p.A47T|TNFRSF19_ENST00000248484.4_Missense_Mutation_p.A179T	NM_018647.3	NP_061117.2	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	179					apoptotic process (GO:0006915)|hair follicle development (GO:0001942)|JNK cascade (GO:0007254)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)	tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		CAGCGCTCTGGCCACCGTCCT	0.552																																						uc001uov.1		NA																	0				kidney(1)|skin(1)	2						c.(535-537)GCC>ACC		tumor necrosis factor receptor superfamily,							59.0	57.0	58.0					13																	24233278		2203	4300	6503	SO:0001583	missense	55504				apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity	g.chr13:24233278G>A	AB040434	CCDS9301.1, CCDS9302.1, CCDS55893.1	13q12.11-q12.3	2008-07-18			ENSG00000127863	ENSG00000127863		"""Tumor necrosis factor receptor superfamily"""	11915	protein-coding gene	gene with protein product	"""toxicity and JNK inducer"""	606122				10764796, 10809768	Standard	NM_018647		Approved	TAJ-alpha, TROY, TAJ, TRADE	uc001uov.2	Q9NS68	OTTHUMG00000016568	ENST00000382258.4:c.535G>A	13.37:g.24233278G>A	ENSP00000371693:p.Ala179Thr					TNFRSF19_uc001uot.2_Missense_Mutation_p.A179T|TNFRSF19_uc010tcu.1_Missense_Mutation_p.A47T|TNFRSF19_uc001uow.2_Missense_Mutation_p.A179T	p.A179T	NM_018647	NP_061117	Q9NS68	TNR19_HUMAN		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)	6	599	+		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	179			Helical; (Potential).		A8KA09|A8KA26|B1AM40|B1AM41|B4E2I6|Q9BXZ9|Q9BY00|Q9NZV2	Missense_Mutation	SNP	ENST00000382258.4	37	c.535G>A	CCDS9302.1	.	.	.	.	.	.	.	.	.	.	G	34	5.310351	0.95629	.	.	ENSG00000127863	ENST00000248484;ENST00000403372;ENST00000382258;ENST00000382263	T;T;T;T	0.21031	2.03;2.03;2.03;2.03	5.62	5.62	0.85841	.	0.047070	0.85682	D	0.000000	T	0.43853	0.1266	M	0.72894	2.215	0.51012	D	0.999906	D;D;D	0.76494	0.999;0.991;0.991	D;P;P	0.67382	0.951;0.894;0.894	T	0.16512	-1.0400	10	0.41790	T	0.15	-28.53	14.496	0.67688	0.0:0.0:0.8532:0.1468	.	47;179;179	B4E2I6;Q9NS68;Q9NS68-2	.;TNR19_HUMAN;.	T	179;47;179;179	ENSP00000248484:A179T;ENSP00000385408:A47T;ENSP00000371693:A179T;ENSP00000371698:A179T	ENSP00000248484:A179T	A	+	1	0	TNFRSF19	23131278	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.500000	0.81588	2.643000	0.89663	0.655000	0.94253	GCC		0.552	TNFRSF19-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044156.2	NM_018647		28	45	0	0	0	0	28	45				
ATP12A	479	broad.mit.edu	37	13	25262596	25262596	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr13:25262596C>T	ENST00000381946.3	+	4	535	c.368C>T	c.(367-369)gCc>gTc	p.A123V	ATP12A_ENST00000218548.6_Missense_Mutation_p.A123V			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	123					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		TGGGTGGGCGCCTTTCTCTGT	0.572																																					Pancreas(156;1582 1935 18898 22665 26498)	uc001upp.2		NA																	0				ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6						c.(367-369)GCC>GTC		hydrogen/potassium-exchanging ATPase 12A	Esomeprazole(DB00736)|Pantoprazole(DB00213)						229.0	234.0	232.0					13																	25262596		2203	4300	6503	SO:0001583	missense	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25262596C>T	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.368C>T	13.37:g.25262596C>T	ENSP00000371372:p.Ala123Val					ATP12A_uc010aaa.2_Missense_Mutation_p.A123V	p.A123V	NM_001676	NP_001667	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	4	555	+		Lung SC(185;0.0225)|Breast(139;0.077)	123			Helical; (Potential).		Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	c.368C>T	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.368575	0.42003	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.85013	-1.93;-1.93	5.06	4.21	0.49690	ATPase, P-type cation-transporter, N-terminal (2);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.64402	D	0.000002	D	0.87557	0.6207	M	0.72624	2.21	0.80722	D	1	D;D	0.63046	0.992;0.981	P;B	0.52514	0.701;0.388	D	0.87820	0.2637	10	0.56958	D	0.05	.	11.2679	0.49120	0.0:0.9112:0.0:0.0888	.	123;123	P54707-2;P54707	.;AT12A_HUMAN	V	123	ENSP00000218548:A123V;ENSP00000371372:A123V	ENSP00000218548:A123V	A	+	2	0	ATP12A	24160596	1.000000	0.71417	0.066000	0.19879	0.020000	0.10135	7.403000	0.79983	1.351000	0.45789	0.655000	0.94253	GCC		0.572	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		241	406	0	0	0	0	241	406				
NUPL1	9818	broad.mit.edu	37	13	25901160	25901160	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr13:25901160A>G	ENST00000381736.3	+	11	1388	c.1138A>G	c.(1138-1140)Ata>Gta	p.I380V	NUPL1_ENST00000381718.3_Missense_Mutation_p.I368V|NUPL1_ENST00000463407.1_Missense_Mutation_p.I380V|NUPL1_ENST00000466694.1_3'UTR	NM_001008564.1|NM_014089.3	NP_001008564.1|NP_054808.1	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	380	14 X 2 AA repeats of F-G.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	nucleocytoplasmic transporter activity (GO:0005487)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		TAATTCACATATAACCCCTCA	0.363																																					Pancreas(166;1040 2004 4560 4728 37041)|GBM(109;1045 1520 7614 9308 19618)	uc001uqi.2		NA																	0					0						c.(1138-1140)ATA>GTA		nucleoporin like 1 isoform a							108.0	109.0	109.0					13																	25901160		2203	4300	6503	SO:0001583	missense	9818				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore		g.chr13:25901160A>G	AB007870	CCDS9314.1, CCDS31949.1	13q12.12	2011-04-12			ENSG00000139496	ENSG00000139496			20261	protein-coding gene	gene with protein product		607615				9455477	Standard	NM_014089		Approved	KIAA0410	uc001uqi.3	Q9BVL2	OTTHUMG00000016608	ENST00000381736.3:c.1138A>G	13.37:g.25901160A>G	ENSP00000371155:p.Ile380Val					NUPL1_uc001uqg.1_Missense_Mutation_p.I380V|NUPL1_uc001uqj.2_Missense_Mutation_p.I368V	p.I380V	NM_014089	NP_054808	Q9BVL2	NUPL1_HUMAN		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)	11	1384	+		Lung SC(185;0.0225)|Breast(139;0.0351)	380			14 X 2 AA repeats of F-G.|Potential.		A6NI12|B4DZJ1|O43160|Q5JRG2|Q5JRG5	Missense_Mutation	SNP	ENST00000381736.3	37	c.1138A>G	CCDS9314.1	.	.	.	.	.	.	.	.	.	.	A	16.57	3.159534	0.57368	.	.	ENSG00000139496	ENST00000381736;ENST00000381745;ENST00000313619;ENST00000463407;ENST00000381718;ENST00000381747;ENST00000394327	T;T;T;T;T	0.47177	1.45;1.47;1.46;1.46;0.85	5.32	5.32	0.75619	.	0.044144	0.85682	D	0.000000	T	0.47985	0.1475	M	0.70275	2.135	0.58432	D	0.999997	P;B;P	0.35575	0.51;0.168;0.488	B;B;B	0.36567	0.228;0.153;0.217	T	0.52193	-0.8608	10	0.51188	T	0.08	-14.6335	10.7583	0.46249	0.8581:0.0:0.0:0.1419	.	368;380;380	A6NI12;Q9BVL2;Q9BVL2-2	.;NUPL1_HUMAN;.	V	380;368;357;380;368;380;327	ENSP00000371155:I380V;ENSP00000418555:I380V;ENSP00000371137:I368V;ENSP00000371166:I380V;ENSP00000408147:I327V	ENSP00000318459:I357V	I	+	1	0	NUPL1	24799160	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.228000	0.78079	2.135000	0.66039	0.482000	0.46254	ATA		0.363	NUPL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044228.2			35	126	0	0	0	0	35	126				
ATP8A2	51761	broad.mit.edu	37	13	26413696	26413696	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr13:26413696C>T	ENST00000381655.2	+	30	3032	c.2890C>T	c.(2890-2892)Cac>Tac	p.H964Y	ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Missense_Mutation_p.H899Y	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	924					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TTTCTGGGGTCACTGCATCAA	0.498																																						uc001uqk.2		NA																	0				ovary(2)|large_intestine(1)|skin(1)	4						c.(2890-2892)CAC>TAC		ATPase, aminophospholipid transporter-like,							157.0	160.0	159.0					13																	26413696		2020	4169	6189	SO:0001583	missense	51761				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:26413696C>T	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.2890C>T	13.37:g.26413696C>T	ENSP00000371070:p.His964Tyr					ATP8A2_uc010tdi.1_Missense_Mutation_p.H899Y|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.H514Y	p.H964Y	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)	30	3032	+		Breast(139;0.0201)|Lung SC(185;0.0225)	924			Helical; (Potential).		Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	c.2890C>T	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.192833	0.58017	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	T;T	0.60920	0.15;0.15	5.77	5.77	0.91146	.	0.213831	0.47455	D	0.000234	T	0.41488	0.1161	N	0.03983	-0.305	0.44555	D	0.997511	B;B;B	0.32101	0.243;0.356;0.243	B;B;B	0.34536	0.065;0.185;0.065	T	0.50906	-0.8772	10	0.87932	D	0	.	19.9785	0.97317	0.0:1.0:0.0:0.0	.	899;744;924	B7Z880;F5GZN5;Q9NTI2	.;.;AT8A2_HUMAN	Y	964;899;744	ENSP00000371070:H964Y;ENSP00000255283:H899Y	ENSP00000255283:H899Y	H	+	1	0	ATP8A2	25311696	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.709000	0.68384	2.724000	0.93272	0.650000	0.86243	CAC		0.498	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		26	202	0	0	0	0	26	202				
KATNAL1	84056	broad.mit.edu	37	13	30784522	30784522	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr13:30784522T>A	ENST00000380615.3	-	10	1372	c.1205A>T	c.(1204-1206)gAt>gTt	p.D402V	KATNAL1_ENST00000380617.3_Missense_Mutation_p.D402V	NM_032116.4	NP_115492.1			katanin p60 subunit A-like 1											autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		CAGTTGAATATCAGGATCTAA	0.378																																						uc001uss.2		NA																	0					0						c.(1204-1206)GAT>GTT		katanin p60 subunit A-like 1							160.0	151.0	154.0					13																	30784522		2203	4300	6503	SO:0001583	missense	84056					cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity	g.chr13:30784522T>A	AK097423	CCDS31956.1	13q12.3	2010-04-21			ENSG00000102781	ENSG00000102781		"""ATPases / AAA-type"""	28361	protein-coding gene	gene with protein product		614764				12477932	Standard	NM_001014380		Approved	MGC2599	uc001uss.4	Q9BW62	OTTHUMG00000016665	ENST00000380615.3:c.1205A>T	13.37:g.30784522T>A	ENSP00000369989:p.Asp402Val					KATNAL1_uc001ust.2_Missense_Mutation_p.D402V	p.D402V	NM_001014380	NP_001014402	Q9BW62	KATL1_HUMAN		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)	10	1306	-		Lung SC(185;0.0257)	402						Missense_Mutation	SNP	ENST00000380615.3	37	c.1205A>T	CCDS31956.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.159643	0.78226	.	.	ENSG00000102781	ENST00000380615;ENST00000380617	D;D	0.96041	-3.89;-3.89	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.97639	0.9226	H	0.96576	3.845	0.80722	D	1	P	0.49358	0.923	P	0.51615	0.675	D	0.98239	1.0487	10	0.87932	D	0	-17.5379	10.4343	0.44426	0.0:0.0723:0.0:0.9277	.	402	Q9BW62	KATL1_HUMAN	V	402	ENSP00000369989:D402V;ENSP00000369991:D402V	ENSP00000369989:D402V	D	-	2	0	KATNAL1	29682522	1.000000	0.71417	0.941000	0.38009	0.863000	0.49368	6.237000	0.72345	2.199000	0.70637	0.533000	0.62120	GAT		0.378	KATNAL1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044346.2	NM_032116		22	113	0	0	0	0	22	113				
USPL1	10208	broad.mit.edu	37	13	31233367	31233367	+	Silent	SNP	A	A	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr13:31233367A>G	ENST00000255304.4	+	9	3495	c.3153A>G	c.(3151-3153)ttA>ttG	p.L1051L		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	1051					Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		TTAGAACATTAAACTTGGAGA	0.398																																					Ovarian(60;318 1180 1554 28110 31601)	uc001utc.2		NA																	0				pancreas(2)|skin(1)	3						c.(3151-3153)TTA>TTG		ubiquitin specific peptidase like 1							100.0	101.0	101.0					13																	31233367		2203	4300	6503	SO:0001819	synonymous_variant	10208				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr13:31233367A>G	X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 22"""	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.3153A>G	13.37:g.31233367A>G						USPL1_uc001utd.2_Silent_p.L722L|USPL1_uc001ute.1_Silent_p.L722L	p.L1051L	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)	9	3585	+		Lung SC(185;0.0257)|Breast(139;0.203)	1051					Q14109|Q6AI45|Q8IY30|Q8IYE8	Silent	SNP	ENST00000255304.4	37	c.3153A>G	CCDS9336.1																																																																																				0.398	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044369.1	NM_005800		29	120	0	0	0	0	29	120				
PDS5B	23047	broad.mit.edu	37	13	33344509	33344509	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr13:33344509G>T	ENST00000315596.10	+	32	4061	c.3875G>T	c.(3874-3876)cGa>cTa	p.R1292L		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	1292					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AAAAGAGGCCGACCACCAAAA	0.418																																						uc010abf.2		NA																	0				ovary(2)|lung(1)|pancreas(1)	4						c.(3874-3876)CGA>CTA		PDS5, regulator of cohesion maintenance, homolog							54.0	53.0	53.0					13																	33344509		1827	4072	5899	SO:0001583	missense	23047				cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	g.chr13:33344509G>T	AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"""androgen-induced proliferation inhibitor"""	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.3875G>T	13.37:g.33344509G>T	ENSP00000313851:p.Arg1292Leu					PDS5B_uc010abg.2_RNA	p.R1292L	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)	32	4033	+		Lung SC(185;0.0367)	1292			A.T hook 2.		Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	ENST00000315596.10	37	c.3875G>T	CCDS41878.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.704357	0.88924	.	.	ENSG00000083642	ENST00000315596;ENST00000447833	.	.	.	6.08	6.08	0.98989	AT hook, DNA-binding motif (1);	0.000000	0.85682	D	0.000000	T	0.67515	0.2901	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.68849	-0.5300	9	0.62326	D	0.03	-1.3476	20.6721	0.99693	0.0:0.0:1.0:0.0	.	1292	Q9NTI5	PDS5B_HUMAN	L	1292;244	.	ENSP00000313851:R1292L	R	+	2	0	PDS5B	32242509	1.000000	0.71417	0.971000	0.41717	0.856000	0.48823	8.378000	0.90144	2.894000	0.99253	0.591000	0.81541	CGA		0.418	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032		9	41	1	0	7.48e-07	8.86e-07	9	41				
NBEA	26960	broad.mit.edu	37	13	35733576	35733576	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr13:35733576G>C	ENST00000400445.3	+	22	3802	c.3268G>C	c.(3268-3270)Gtg>Ctg	p.V1090L	NBEA_ENST00000310336.4_Missense_Mutation_p.V1090L|NBEA_ENST00000379939.2_Missense_Mutation_p.V1090L|NBEA_ENST00000540320.1_Missense_Mutation_p.V1090L	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1090					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TGGTGCCCTTGTGGAGGTTGA	0.383																																						uc001uvb.2		NA																	0				ovary(9)|large_intestine(2)	11						c.(3268-3270)GTG>CTG		neurobeachin							124.0	118.0	120.0					13																	35733576		1881	4110	5991	SO:0001583	missense	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35733576G>C	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.3268G>C	13.37:g.35733576G>C	ENSP00000383295:p.Val1090Leu					NBEA_uc010abi.2_5'Flank	p.V1090L	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	23	3474	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	1090					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	c.3268G>C	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.540957	0.45280	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	5.09	5.09	0.68999	.	0.000000	0.64402	D	0.000001	T	0.41419	0.1158	N	0.24115	0.695	0.80722	D	1	B	0.10296	0.003	B	0.10450	0.005	T	0.18587	-1.0332	10	0.23302	T	0.38	.	18.4855	0.90827	0.0:0.0:1.0:0.0	.	1090	Q5T321	.	L	1090	ENSP00000440951:V1090L;ENSP00000383295:V1090L;ENSP00000369271:V1090L;ENSP00000308534:V1090L	ENSP00000308534:V1090L	V	+	1	0	NBEA	34631576	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.393000	0.79851	2.370000	0.80446	0.555000	0.69702	GTG		0.383	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		11	41	0	0	0	0	11	41				
MAB21L1	4081	broad.mit.edu	37	13	36049804	36049804	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr13:36049804C>T	ENST00000379919.4	-	1	1028	c.472G>A	c.(472-474)Gtg>Atg	p.V158M	NBEA_ENST00000310336.4_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000537702.1_5'Flank|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000540320.1_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	158					anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		CTCAGTTTCACTTCGCTGGTG	0.572																																						uc001uvc.2		NA																	0				ovary(2)	2						c.(472-474)GTG>ATG		mab-21-like protein 1							78.0	79.0	78.0					13																	36049804		2203	4300	6503	SO:0001583	missense	4081				anatomical structure morphogenesis	nucleus		g.chr13:36049804C>T	BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660			6757	protein-coding gene	gene with protein product		601280	"""mab-21 (C. elegans)-like 1"""			8733127	Standard	NM_005584		Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.472G>A	13.37:g.36049804C>T	ENSP00000369251:p.Val158Met					NBEA_uc001uvb.2_Intron|NBEA_uc010abi.2_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.1_5'Flank|NBEA_uc010teg.1_5'Flank	p.V158M	NM_005584	NP_005575	Q13394	MB211_HUMAN		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)	1	1029	-		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)	158					Q6I9T5	Missense_Mutation	SNP	ENST00000379919.4	37	c.472G>A	CCDS9353.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.092447	0.76756	.	.	ENSG00000180660	ENST00000379919	T	0.10382	2.88	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.40322	0.1112	M	0.84585	2.705	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.22800	-1.0206	10	0.51188	T	0.08	-8.9903	19.7375	0.96212	0.0:1.0:0.0:0.0	.	158	Q13394	MB211_HUMAN	M	158	ENSP00000369251:V158M	ENSP00000369251:V158M	V	-	1	0	MAB21L1	34947804	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.680000	0.91292	0.655000	0.94253	GTG		0.572	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044459.3	NM_005584		35	56	0	0	0	0	35	56				
DCLK1	9201	broad.mit.edu	37	13	36700076	36700076	+	Silent	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr13:36700076G>T	ENST00000360631.3	-	2	410	c.199C>A	c.(199-201)Cga>Aga	p.R67R	DCLK1_ENST00000255448.4_Silent_p.R67R|DCLK1_ENST00000379892.4_Silent_p.R67R			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	67	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TTGAAGTATCGATCTCCGTTT	0.547																																						uc001uvf.2		NA																	0				stomach(6)|ovary(2)|skin(1)	9						c.(199-201)CGA>AGA		doublecortin-like kinase 1							106.0	95.0	99.0					13																	36700076		2203	4300	6503	SO:0001819	synonymous_variant	9201				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr13:36700076G>T	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.199C>A	13.37:g.36700076G>T							p.R67R	NM_004734	NP_004725	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)	2	432	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	67			Doublecortin 1.		B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Silent	SNP	ENST00000360631.3	37	c.199C>A																																																																																					0.547	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734		29	124	1	0	8.58e-18	1.19e-17	29	124				
NEK5	341676	broad.mit.edu	37	13	52650229	52650229	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr13:52650229A>T	ENST00000355568.4	-	19	1837	c.1698T>A	c.(1696-1698)agT>agA	p.S566R		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	566					positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		CTGGATTTTTACTTTCCTTTG	0.348																																						uc001vge.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(1696-1698)AGT>AGA		NIMA-related kinase 5							141.0	137.0	139.0					13																	52650229		2203	4299	6502	SO:0001583	missense	341676						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr13:52650229A>T	BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)-related kinase 5"""			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.1698T>A	13.37:g.52650229A>T	ENSP00000347767:p.Ser566Arg						p.S566R	NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN		GBM - Glioblastoma multiforme(99;3.7e-08)	19	1838	-		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	566					Q5TAP5	Missense_Mutation	SNP	ENST00000355568.4	37	c.1698T>A	CCDS31979.1	.	.	.	.	.	.	.	.	.	.	A	1.925	-0.447443	0.04572	.	.	ENSG00000197168	ENST00000355568	T	0.31510	1.49	5.94	-1.26	0.09376	.	0.340768	0.23569	N	0.046763	T	0.15089	0.0364	L	0.41236	1.265	0.23144	N	0.998224	B	0.09022	0.002	B	0.06405	0.002	T	0.12451	-1.0547	10	0.14252	T	0.57	.	0.5451	0.00652	0.3937:0.1415:0.2599:0.2049	.	566	Q6P3R8	NEK5_HUMAN	R	566	ENSP00000347767:S566R	ENSP00000347767:S566R	S	-	3	2	NEK5	51548230	0.788000	0.28762	0.957000	0.39632	0.061000	0.15899	0.275000	0.18698	0.169000	0.19679	-0.385000	0.06624	AGT		0.348	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045045.3	NM_199289		24	42	0	0	0	0	24	42				
PCDH17	27253	broad.mit.edu	37	13	58208417	58208417	+	Silent	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr13:58208417C>T	ENST00000377918.3	+	1	1763	c.1737C>T	c.(1735-1737)aaC>aaT	p.N579N		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	579	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TGAATGACAACGCGCCAGTGA	0.642																																					Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1		NA																	0				ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7						c.(1735-1737)AAC>AAT		protocadherin 17 precursor							37.0	37.0	37.0					13																	58208417		2203	4300	6503	SO:0001819	synonymous_variant	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58208417C>T	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1737C>T	13.37:g.58208417C>T						PCDH17_uc010aec.1_Silent_p.N579N	p.N579N	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	2629	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	579			Extracellular (Potential).|Cadherin 5.		A8K1R5|Q5VVW9|Q5VVX0	Silent	SNP	ENST00000377918.3	37	c.1737C>T	CCDS31986.1																																																																																				0.642	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		11	69	0	0	0	0	11	69				
NALCN	259232	broad.mit.edu	37	13	101844272	101844272	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr13:101844272G>T	ENST00000251127.6	-	14	1841	c.1760C>A	c.(1759-1761)aCt>aAt	p.T587N	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.T587N	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	587					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACTCACCAGAGTGGCAAAAAG	0.393																																						uc001vox.1		NA																	0				ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(1759-1761)ACT>AAT		voltage gated channel like 1							88.0	74.0	78.0					13																	101844272		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101844272G>T	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.1760C>A	13.37:g.101844272G>T	ENSP00000251127:p.Thr587Asn					NALCN_uc001voy.2_Missense_Mutation_p.T302N|NALCN_uc001voz.2_Missense_Mutation_p.T587N|NALCN_uc001vpa.2_Missense_Mutation_p.T587N	p.T587N	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			14	1949	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		587			Helical; Name=S6 of repeat II; (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.1760C>A	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.290969	0.80914	.	.	ENSG00000102452	ENST00000251127;ENST00000376196	D;D	0.98381	-4.33;-4.9	5.44	5.44	0.79542	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97573	0.9205	N	0.12831	0.26	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.72625	0.978;0.967;0.978	D	0.99864	1.1087	10	0.87932	D	0	.	19.636	0.95733	0.0:0.0:1.0:0.0	.	587;587;587	F2Z323;B3KSZ6;Q8IZF0	.;.;NALCN_HUMAN	N	587	ENSP00000251127:T587N;ENSP00000365367:T587N	ENSP00000251127:T587N	T	-	2	0	NALCN	100642273	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.301000	0.96167	2.720000	0.93068	0.650000	0.86243	ACT		0.393	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		19	18	1	0	1.56e-14	2.07e-14	19	18				
FAM155A	728215	broad.mit.edu	37	13	107862932	107862932	+	Splice_Site	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr13:107862932C>T	ENST00000375915.2	-	2	1225	c.1087G>A	c.(1087-1089)Ggg>Agg	p.G363R		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	363						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GGCACTGTACCTGTACAGATG	0.458																																						uc001vql.2		NA																	0				skin(1)	1						c.(1087-1089)GGG>AGG		family with sequence similarity 155, member A							72.0	72.0	72.0					13																	107862932		2203	4300	6503	SO:0001630	splice_region_variant	728215					integral to membrane	binding	g.chr13:107862932C>T	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.1087+1G>A	13.37:g.107862932C>T							p.G363R	NM_001080396	NP_001073865	B1AL88	F155A_HUMAN			2	1603	-			363					B2RUV1|B7Z334	Missense_Mutation	SNP	ENST00000375915.2	37	c.1087G>A	CCDS32006.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.769232	0.90020	.	.	ENSG00000204442	ENST00000375915	T	0.11821	2.74	5.71	5.71	0.89125	.	0.150357	0.49916	D	0.000139	T	0.35970	0.0950	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00679	-1.1613	9	.	.	.	.	18.8324	0.92145	0.0:1.0:0.0:0.0	.	363	B1AL88	F155A_HUMAN	R	363	ENSP00000365080:G363R	.	G	-	1	0	FAM155A	106660933	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	7.487000	0.81328	2.680000	0.91292	0.650000	0.86243	GGG		0.458	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396	Missense_Mutation	29	51	0	0	0	0	29	51				
OR4M1	441670	broad.mit.edu	37	14	20248711	20248711	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:20248711C>A	ENST00000315957.4	+	1	311	c.230C>A	c.(229-231)aCa>aAa	p.T77K		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	77						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTTCCATTACAGCCCCTAAA	0.438																																						uc010tku.1		NA																	0					0						c.(229-231)ACA>AAA		olfactory receptor, family 4, subfamily M,							276.0	297.0	290.0					14																	20248711		2203	4300	6503	SO:0001583	missense	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20248711C>A		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.230C>A	14.37:g.20248711C>A	ENSP00000319654:p.Thr77Lys						p.T77K	NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	230	+	all_cancers(95;0.00108)		77			Helical; Name=2; (Potential).		B9EH18|Q6IFA3	Missense_Mutation	SNP	ENST00000315957.4	37	c.230C>A	CCDS32021.1	.	.	.	.	.	.	.	.	.	.	.	14.86	2.660501	0.47572	.	.	ENSG00000176299	ENST00000315957	T	0.00902	5.56	4.2	3.3	0.37823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000177	T	0.04137	0.0115	H	0.95850	3.73	0.09310	N	1	P	0.49185	0.92	P	0.46796	0.527	T	0.12967	-1.0527	10	0.72032	D	0.01	-7.3791	9.7191	0.40291	0.0:0.894:0.0:0.106	.	77	Q8NGD0	OR4M1_HUMAN	K	77	ENSP00000319654:T77K	ENSP00000319654:T77K	T	+	2	0	OR4M1	19318551	0.000000	0.05858	1.000000	0.80357	0.867000	0.49689	0.558000	0.23469	2.338000	0.79540	0.401000	0.26515	ACA		0.438	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			208	590	1	0	2.46e-77	3.77e-77	208	590				
OR4K2	390431	broad.mit.edu	37	14	20344521	20344521	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:20344521C>T	ENST00000298642.2	+	1	131	c.95C>T	c.(94-96)tCa>tTa	p.S32L		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATGGTGTTTTCATTGCTTTAT	0.413																																						uc001vwh.1		NA																	0				ovary(2)|skin(2)	4						c.(94-96)TCA>TTA		olfactory receptor, family 4, subfamily K,							302.0	309.0	306.0					14																	20344521		2203	4300	6503	SO:0001583	missense	390431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20344521C>T		CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"""GPCR / Class A : Olfactory receptors"""	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.95C>T	14.37:g.20344521C>T	ENSP00000298642:p.Ser32Leu						p.S32L	NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	95	+	all_cancers(95;0.00108)		32			Helical; Name=1; (Potential).		B2RNK8|Q6IFA5	Missense_Mutation	SNP	ENST00000298642.2	37	c.95C>T	CCDS32023.1	.	.	.	.	.	.	.	.	.	.	.	12.57	1.978815	0.34942	.	.	ENSG00000165762	ENST00000298642	T	0.00265	8.39	5.4	2.56	0.30785	.	0.166592	0.28549	N	0.014941	T	0.00073	0.0002	N	0.01473	-0.845	0.26484	N	0.975057	B	0.13145	0.007	B	0.16722	0.016	T	0.02491	-1.1151	10	0.11485	T	0.65	.	7.5621	0.27857	0.0:0.6657:0.0:0.3343	.	32	Q8NGD2	OR4K2_HUMAN	L	32	ENSP00000298642:S32L	ENSP00000298642:S32L	S	+	2	0	OR4K2	19414361	0.001000	0.12720	0.949000	0.38748	0.993000	0.82548	1.304000	0.33482	0.850000	0.35239	0.655000	0.94253	TCA		0.413	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1			188	525	0	0	0	0	188	525				
TMEM55B	90809	broad.mit.edu	37	14	20928404	20928404	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:20928404A>T	ENST00000250489.4	-	3	673	c.387T>A	c.(385-387)tgT>tgA	p.C129*	TMEM55B_ENST00000554028.1_5'UTR|TMEM55B_ENST00000398020.4_Nonsense_Mutation_p.C136*			Q86T03	TM55B_HUMAN	transmembrane protein 55B	129						endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			endometrium(3)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)		AGATAAGGAGACAGTTACAGG	0.493																																						uc001vxl.2		NA																	0					0						c.(385-387)TGT>TGA		transmembrane protein 55B isoform 2							127.0	121.0	123.0					14																	20928404		2203	4300	6503	SO:0001587	stop_gained	90809					integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity	g.chr14:20928404A>T	BC002867	CCDS9551.1, CCDS41911.1	14q11.1	2002-11-27	2005-07-18	2005-07-18	ENSG00000165782	ENSG00000165782			19299	protein-coding gene	gene with protein product		609865	"""chromosome 14 open reading frame 9"""	C14orf9			Standard	NM_144568		Approved	MGC26684	uc001vxk.2	Q86T03	OTTHUMG00000029545	ENST00000250489.4:c.387T>A	14.37:g.20928404A>T	ENSP00000250489:p.Cys129*					TMEM55B_uc001vxk.2_Nonsense_Mutation_p.C136*	p.C129*	NM_144568	NP_653169	Q86T03	TM55B_HUMAN	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	3	540	-	all_cancers(95;0.00123)	all_lung(585;0.235)	129					B2RA35|Q86U09|Q8WUC0|Q9BU67|Q9NSU8	Nonsense_Mutation	SNP	ENST00000250489.4	37	c.387T>A	CCDS9551.1	.	.	.	.	.	.	.	.	.	.	A	32	5.132659	0.94517	.	.	ENSG00000165782	ENST00000250489;ENST00000398020	.	.	.	5.25	2.86	0.33363	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.5116	7.4445	0.27203	0.7555:0.0:0.2445:0.0	.	.	.	.	X	129;136	.	ENSP00000250489:C129X	C	-	3	2	TMEM55B	19998244	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.184000	0.32053	0.784000	0.33661	0.533000	0.62120	TGT		0.493	TMEM55B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000073643.3	NM_144568		10	89	0	0	0	0	10	89				
SUPT16H	11198	broad.mit.edu	37	14	21831310	21831310	+	Splice_Site	SNP	T	T	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:21831310T>G	ENST00000216297.2	-	13	1734		c.e13-2			NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)						DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CATTTCATTCTGGTGAATGGA	0.388																																						uc001wao.2		NA																	0					0						c.e13-1		chromatin-specific transcription elongation							137.0	134.0	135.0					14																	21831310		2203	4300	6503	SO:0001630	splice_region_variant	11198				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	g.chr14:21831310T>G	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.1396-2A>C	14.37:g.21831310T>G							p.N466_splice	NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	13	1735	-	all_cancers(95;0.00115)							Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Splice_Site	SNP	ENST00000216297.2	37	c.1396_splice	CCDS9569.1	.	.	.	.	.	.	.	.	.	.	T	17.08	3.298185	0.60195	.	.	ENSG00000092201	ENST00000216297	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8707	0.63617	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SUPT16H	20901150	1.000000	0.71417	0.988000	0.46212	0.600000	0.36913	7.357000	0.79456	1.928000	0.55862	0.533000	0.62120	.		0.388	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2		Intron	39	163	0	0	0	0	39	163				
C14orf119	55017	broad.mit.edu	37	14	23567116	23567116	+	Silent	SNP	T	T	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:23567116T>C	ENST00000319074.4	+	2	1105	c.249T>C	c.(247-249)tcT>tcC	p.S83S	ACIN1_ENST00000605057.1_5'Flank|C14orf119_ENST00000554203.1_Silent_p.S83S|ACIN1_ENST00000555053.1_5'Flank|ACIN1_ENST00000457657.1_5'Flank|ACIN1_ENST00000262710.1_5'Flank	NM_017924.3	NP_060394.1	Q9NWQ9	CN119_HUMAN	chromosome 14 open reading frame 119	83						mitochondrion (GO:0005739)				central_nervous_system(1)|endometrium(1)|lung(1)	3	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00649)		TTAGTGTGTCTGGGGCAGACC	0.527																																						uc001wiu.2		NA																	0					0						c.(247-249)TCT>TCC		chromosome 14 open reading frame 119							142.0	128.0	133.0					14																	23567116		2203	4300	6503	SO:0001819	synonymous_variant	55017							g.chr14:23567116T>C		CCDS9588.1	14q11.2	2012-09-25			ENSG00000179933	ENSG00000179933			20270	protein-coding gene	gene with protein product							Standard	NM_017924		Approved	FLJ20671	uc001wiu.3	Q9NWQ9	OTTHUMG00000028717	ENST00000319074.4:c.249T>C	14.37:g.23567116T>C						ACIN1_uc001wit.3_5'Flank|ACIN1_uc010akg.2_5'Flank|ACIN1_uc010tnj.1_5'Flank	p.S83S	NM_017924	NP_060394	Q9NWQ9	CN119_HUMAN		GBM - Glioblastoma multiforme(265;0.00649)	2	291	+	all_cancers(95;4.6e-05)		83					Q6IAA7	Silent	SNP	ENST00000319074.4	37	c.249T>C	CCDS9588.1																																																																																				0.527	C14orf119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071713.3	NM_017924		41	167	0	0	0	0	41	167				
PRKD1	5587	broad.mit.edu	37	14	30066838	30066838	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:30066838C>T	ENST00000331968.5	-	16	2522	c.2293G>A	c.(2293-2295)Gac>Aac	p.D765N	PRKD1_ENST00000415220.2_Missense_Mutation_p.D773N	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	765	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GACCACATGTCTAGAGAGCGA	0.493																																						uc001wqh.2		NA																	0				lung(3)|large_intestine(2)|ovary(2)|skin(1)	8						c.(2293-2295)GAC>AAC		protein kinase D1							149.0	139.0	142.0					14																	30066838		2203	4300	6503	SO:0001583	missense	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30066838C>T		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.2293G>A	14.37:g.30066838C>T	ENSP00000333568:p.Asp765Asn						p.D765N	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	16	2474	-	Hepatocellular(127;0.0604)		765			Protein kinase.		A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	c.2293G>A	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.889615	0.91889	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	D;D	0.97480	-4.4;-4.4	5.72	5.72	0.89469	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	D	0.99357	0.9774	H	0.99770	4.765	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98183	1.0458	10	0.87932	D	0	-31.3943	20.2504	0.98404	0.0:1.0:0.0:0.0	.	765	Q15139	KPCD1_HUMAN	N	765;773	ENSP00000333568:D765N;ENSP00000390535:D773N	ENSP00000333568:D765N	D	-	1	0	PRKD1	29136589	1.000000	0.71417	1.000000	0.80357	0.579000	0.36224	7.776000	0.85560	2.850000	0.98022	0.650000	0.86243	GAC		0.493	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		34	157	0	0	0	0	34	157				
KIAA0586	9786	broad.mit.edu	37	14	58917324	58917324	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:58917324G>A	ENST00000556134.1	+	9	1218	c.944G>A	c.(943-945)aGt>aAt	p.S315N	KIAA0586_ENST00000423743.3_Missense_Mutation_p.S286N|KIAA0586_ENST00000261244.5_Missense_Mutation_p.S330N|KIAA0586_ENST00000354386.6_Missense_Mutation_p.S383N|KIAA0586_ENST00000538571.2_3'UTR	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	315					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GAAGATACGAGTTTTGATAAA	0.328																																						uc001xdv.3		NA																	0				ovary(1)	1						c.(988-990)AGT>AAT		talpid3 protein							47.0	47.0	47.0					14																	58917324		1797	4072	5869	SO:0001583	missense	9786							g.chr14:58917324G>A	AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.944G>A	14.37:g.58917324G>A	ENSP00000452351:p.Ser315Asn					KIAA0586_uc010trr.1_Missense_Mutation_p.S371N|KIAA0586_uc001xdt.3_Missense_Mutation_p.S286N|KIAA0586_uc001xdu.3_Missense_Mutation_p.S315N|KIAA0586_uc010trs.1_Missense_Mutation_p.S245N|KIAA0586_uc010trt.1_Missense_Mutation_p.S190N|KIAA0586_uc010tru.1_Missense_Mutation_p.S190N	p.S330N	NM_014749	NP_055564	E9PGW8	E9PGW8_HUMAN			8	1262	+			330					B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Missense_Mutation	SNP	ENST00000556134.1	37	c.989G>A	CCDS58321.1	.	.	.	.	.	.	.	.	.	.	G	7.039	0.562073	0.13498	.	.	ENSG00000100578	ENST00000354386;ENST00000556134;ENST00000423743;ENST00000261244;ENST00000546216	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	4.84	-6.14	0.02111	.	1.004020	0.08020	N	0.991779	T	0.15305	0.0369	N	0.11427	0.14	0.09310	N	1	B;B;B;B;B;B	0.15719	0.0;0.0;0.014;0.007;0.0;0.0	B;B;B;B;B;B	0.15870	0.001;0.001;0.014;0.004;0.001;0.001	T	0.30327	-0.9982	10	0.02654	T	1	.	5.5121	0.16886	0.5802:0.0938:0.2311:0.0948	.	190;190;383;330;315;286	F5GWA3;B7Z7W7;E7EWM8;E9PGW8;Q9BVV6;Q6UV20	.;.;.;.;K0586_HUMAN;.	N	383;315;286;330;190	ENSP00000346359:S383N;ENSP00000452351:S315N;ENSP00000399427:S286N;ENSP00000261244:S330N	ENSP00000261244:S330N	S	+	2	0	KIAA0586	57987077	0.000000	0.05858	0.000000	0.03702	0.372000	0.29890	-2.143000	0.01297	-1.813000	0.01226	0.462000	0.41574	AGT		0.328	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	NM_014749		16	33	0	0	0	0	16	33				
DCAF5	8816	broad.mit.edu	37	14	69529205	69529205	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:69529205C>G	ENST00000341516.5	-	8	1117	c.970G>C	c.(970-972)Gga>Cga	p.G324R	DCAF5_ENST00000554215.1_Missense_Mutation_p.G242R|DCAF5_ENST00000557386.1_Missense_Mutation_p.G323R|DCAF5_ENST00000556847.1_Missense_Mutation_p.G242R|DCAF5_ENST00000553293.1_Intron	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	324					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|mitochondrion (GO:0005739)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						ATGAAGGCTCCGTTGACCACC	0.413																																						uc001xkp.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(970-972)GGA>CGA		WD repeat domain 22							117.0	100.0	106.0					14																	69529205		2203	4300	6503	SO:0001583	missense	8816					CUL4 RING ubiquitin ligase complex		g.chr14:69529205C>G	AB058727	CCDS32106.1, CCDS61480.1, CCDS61481.1, CCDS73646.1	14q23-q24.1	2013-01-09	2009-07-17	2009-07-17				"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20224	protein-coding gene	gene with protein product		603812	"""WD repeat domain 22"""	WDR22		9740667, 9521877	Standard	NM_003861		Approved	BCRP2, D14S1461E, BCRG2, KIAA1824	uc001xkp.3	Q96JK2		ENST00000341516.5:c.970G>C	14.37:g.69529205C>G	ENSP00000341351:p.Gly324Arg					DCAF5_uc001xkq.2_Missense_Mutation_p.G323R	p.G324R	NM_003861	NP_003852	Q96JK2	DCAF5_HUMAN			8	1189	-			324					B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Missense_Mutation	SNP	ENST00000341516.5	37	c.970G>C	CCDS32106.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.583374	0.86748	.	.	ENSG00000139990	ENST00000341516;ENST00000554215;ENST00000556847;ENST00000557386	T;T;T;T	0.27557	1.66;1.66;1.66;1.66	6.16	6.16	0.99307	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	0.35008	0.0917	L	0.31752	0.955	0.80722	D	1	P;P	0.41546	0.707;0.754	P;B	0.46339	0.513;0.321	T	0.00860	-1.1537	10	0.36615	T	0.2	-11.6937	20.8598	0.99761	0.0:1.0:0.0:0.0	.	323;324	G3V4J7;Q96JK2	.;DCAF5_HUMAN	R	324;242;242;323	ENSP00000341351:G324R;ENSP00000451551:G242R;ENSP00000452052:G242R;ENSP00000451845:G323R	ENSP00000341351:G324R	G	-	1	0	DCAF5	68598958	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.937000	0.99478	0.650000	0.86243	GGA		0.413	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414806.2	NM_003861		12	93	0	0	0	0	12	93				
ZNF410	57862	broad.mit.edu	37	14	74371737	74371737	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:74371737G>A	ENST00000555044.1	+	7	1058	c.864G>A	c.(862-864)aaG>aaA	p.K288K	ZNF410_ENST00000324593.6_Silent_p.K288K|ZNF410_ENST00000540593.1_Silent_p.K215K|ZNF410_ENST00000334521.4_Silent_p.K235K|RP5-1021I20.5_ENST00000554009.1_RNA|Y_RNA_ENST00000362602.1_RNA|RP5-1021I20.4_ENST00000556551.2_3'UTR|ZNF410_ENST00000442160.3_Silent_p.K305K|ZNF410_ENST00000412490.3_3'UTR|RP5-1021I20.6_ENST00000602874.1_RNA	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN	zinc finger protein 410	288					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(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		GCTGTGGTAAGCAGTTTACTA	0.527																																						uc001xoz.1		NA																	0				skin(1)	1						c.(862-864)AAG>AAA		zinc finger protein 410							117.0	101.0	107.0					14																	74371737		2203	4300	6503	SO:0001819	synonymous_variant	57862				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr14:74371737G>A	U90919	CCDS9821.1, CCDS55929.1, CCDS55930.1, CCDS55931.1	14q24.3	2013-01-08				ENSG00000119725		"""Zinc fingers, C2H2-type"""	20144	protein-coding gene	gene with protein product						12370286	Standard	NM_001242924		Approved	APA1, APA-1	uc010arz.2	Q86VK4		ENST00000555044.1:c.864G>A	14.37:g.74371737G>A						ZNF410_uc001xoy.1_RNA|ZNF410_uc010ary.1_RNA|ZNF410_uc010tuf.1_RNA|ZNF410_uc010tug.1_Silent_p.K19K|ZNF410_uc010tuh.1_Silent_p.K215K|ZNF410_uc010tui.1_RNA|ZNF410_uc010arz.1_Silent_p.K305K|ZNF410_uc001xpa.1_Silent_p.K92K|ZNF410_uc001xpb.1_Silent_p.K288K|ZNF410_uc001xpc.1_Silent_p.K235K|ZNF410_uc010tuj.1_Silent_p.K92K	p.K288K	NM_021188	NP_067011	Q86VK4	ZN410_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00369)	7	1046	+			288			C2H2-type 3.		B4DDV5|B4DR78|O00153|Q9BQ19	Silent	SNP	ENST00000555044.1	37	c.864G>A	CCDS9821.1																																																																																				0.527	ZNF410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412597.1	NM_021188		24	97	0	0	0	0	24	97				
CEP128	145508	broad.mit.edu	37	14	81259118	81259118	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:81259118C>T	ENST00000555265.1	-	14	1921	c.1546G>A	c.(1546-1548)Ggc>Agc	p.G516S	CEP128_ENST00000281129.3_Missense_Mutation_p.G516S			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	516						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TTATTCTTGCCTGTCAGTTCA	0.383																																						uc001xux.2		NA																	0					0						c.(1546-1548)GGC>AGC		hypothetical protein LOC145508							157.0	150.0	153.0					14																	81259118		2203	4300	6503	SO:0001583	missense	145508					centriole|spindle pole		g.chr14:81259118C>T	AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 61"", ""chromosome 14 open reading frame 145"""	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.1546G>A	14.37:g.81259118C>T	ENSP00000451162:p.Gly516Ser					C14orf145_uc010asz.1_RNA	p.G516S	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0586)	13	1717	-			516			Potential.		B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	ENST00000555265.1	37	c.1546G>A	CCDS32130.1	.	.	.	.	.	.	.	.	.	.	C	4.791	0.147097	0.09134	.	.	ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619	T;T	0.30182	1.54;1.54	5.44	2.64	0.31445	.	0.675214	0.14359	N	0.324565	T	0.13927	0.0337	N	0.08118	0	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.10543	-1.0625	10	0.08179	T	0.78	.	10.5018	0.44810	0.0:0.7899:0.0:0.2101	.	516	Q6ZU80	CE128_HUMAN	S	516	ENSP00000281129:G516S;ENSP00000451162:G516S	ENSP00000281129:G516S	G	-	1	0	CEP128	80328871	1.000000	0.71417	0.802000	0.32245	0.052000	0.14988	2.444000	0.44890	0.274000	0.22072	-0.157000	0.13467	GGC		0.383	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446		39	212	0	0	0	0	39	212				
ZC3H14	79882	broad.mit.edu	37	14	89041109	89041109	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:89041109G>T	ENST00000251038.5	+	7	1159	c.934G>T	c.(934-936)Gga>Tga	p.G312*	ZC3H14_ENST00000393514.5_Nonsense_Mutation_p.G312*|ZC3H14_ENST00000556945.1_Nonsense_Mutation_p.G312*|ZC3H14_ENST00000359301.3_Nonsense_Mutation_p.G278*|ZC3H14_ENST00000557605.1_3'UTR|ZC3H14_ENST00000557607.1_Nonsense_Mutation_p.G157*|ZC3H14_ENST00000336693.4_Nonsense_Mutation_p.G278*|ZC3H14_ENST00000302216.8_Nonsense_Mutation_p.G312*|ZC3H14_ENST00000555755.1_Nonsense_Mutation_p.G312*	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	312						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						CAATCATGATGGAGAAGAGGA	0.413																																						uc001xww.2		NA																	0				ovary(2)|skin(1)	3						c.(934-936)GGA>TGA		zinc finger CCCH-type containing 14 isoform 1							72.0	68.0	69.0					14																	89041109		2203	4300	6503	SO:0001587	stop_gained	79882					cytoplasm|cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding	g.chr14:89041109G>T	AF155107	CCDS32133.1, CCDS32134.1, CCDS32135.1, CCDS32136.1, CCDS55938.1	14q31.3	2014-08-12			ENSG00000100722	ENSG00000100722		"""Zinc fingers, CCCH-type domain containing"""	20509	protein-coding gene	gene with protein product		613279				10508479	Standard	NM_024824		Approved	FLJ11806, UKp68, NY-REN-37	uc001xww.3	Q6PJT7	OTTHUMG00000170803	ENST00000251038.5:c.934G>T	14.37:g.89041109G>T	ENSP00000251038:p.Gly312*					ZC3H14_uc010twd.1_Nonsense_Mutation_p.G312*|ZC3H14_uc010twe.1_Nonsense_Mutation_p.G312*|ZC3H14_uc001xwx.2_Nonsense_Mutation_p.G312*|ZC3H14_uc010twf.1_Nonsense_Mutation_p.G157*|ZC3H14_uc001xwy.2_Nonsense_Mutation_p.G278*|ZC3H14_uc010twg.1_Nonsense_Mutation_p.G157*|ZC3H14_uc001xxa.2_5'Flank	p.G312*	NM_024824	NP_079100	Q6PJT7	ZC3HE_HUMAN			7	1159	+			312					A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	Nonsense_Mutation	SNP	ENST00000251038.5	37	c.934G>T	CCDS32133.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.175803|8.175803	0.98691|0.98691	.|.	.|.	ENSG00000100722|ENSG00000100722	ENST00000251038;ENST00000393530;ENST00000353091;ENST00000359301;ENST00000302216;ENST00000380684;ENST00000556945;ENST00000557607;ENST00000555755;ENST00000393514;ENST00000336693|ENST00000556000	.|.	.|.	.|.	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	0.051104|.	0.85682|.	D|.	0.000000|.	.|T	.|0.80019	.|0.4547	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77678	.|-0.2498	.|3	0.54805|.	T|.	0.06|.	-20.9591|-20.9591	20.0545|20.0545	0.97645|0.97645	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	312;312;312;278;312;293;312;157;312;312;278|227	.|.	ENSP00000251038:G312X|.	G|M	+|+	1|3	0|0	ZC3H14|ZC3H14	88110862|88110862	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.260000|8.260000	0.89857|0.89857	2.748000|2.748000	0.94277|0.94277	0.655000|0.655000	0.94253|0.94253	GGA|ATG		0.413	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410387.1	NM_024824		10	55	1	0	0.000442599	0.000482734	10	55				
CCDC88C	440193	broad.mit.edu	37	14	91763774	91763774	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:91763774C>T	ENST00000389857.6	-	22	3927	c.3841G>A	c.(3841-3843)Gag>Aag	p.E1281K		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1281					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GTTTTCAGCTCCTTGGTGTGG	0.597																																						uc010aty.2		NA																	0				ovary(3)	3						c.(3841-3843)GAG>AAG		DVL-binding protein DAPLE							51.0	55.0	54.0					14																	91763774		2176	4260	6436	SO:0001583	missense	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91763774C>T		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.3841G>A	14.37:g.91763774C>T	ENSP00000374507:p.Glu1281Lys						p.E1281K	NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN			22	3940	-		all_cancers(154;0.0468)	1281			Potential.		Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	37	c.3841G>A	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.137907	0.77775	.	.	ENSG00000015133	ENST00000389857	T	0.16073	2.37	5.34	4.45	0.53987	.	0.129390	0.34025	U	0.004326	T	0.29684	0.0741	M	0.62016	1.91	0.80722	D	1	D	0.55605	0.972	P	0.53006	0.715	T	0.02546	-1.1143	10	0.41790	T	0.15	-30.4379	13.9829	0.64315	0.0:0.927:0.0:0.073	.	1281	Q9P219	DAPLE_HUMAN	K	1281	ENSP00000374507:E1281K	ENSP00000374507:E1281K	E	-	1	0	CCDC88C	90833527	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	4.027000	0.57239	1.263000	0.44181	0.609000	0.83330	GAG		0.597	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		5	6	0	0	0	0	5	6				
SLC24A4	123041	broad.mit.edu	37	14	92958015	92958015	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:92958015G>T	ENST00000532405.1	+	15	1770	c.1544G>T	c.(1543-1545)gGg>gTg	p.G515V	SLC24A4_ENST00000298877.1_Missense_Mutation_p.G498V|SLC24A4_ENST00000393265.2_Missense_Mutation_p.G451V|SLC24A4_ENST00000351924.5_Missense_Mutation_p.G479V|SLC24A4_ENST00000531433.1_Missense_Mutation_p.G496V			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	515					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		GCAGGCCTTGGGGACATGGCA	0.478																																					NSCLC(10;315 435 10383 28450 38798)	uc001yak.2		NA																	0				breast(2)|ovary(1)	3						c.(1492-1494)GGG>GTG		solute carrier family 24 member 4 isoform 1							140.0	124.0	130.0					14																	92958015		2203	4300	6503	SO:0001583	missense	123041					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr14:92958015G>T	AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"""Solute carriers"""	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.1544G>T	14.37:g.92958015G>T	ENSP00000431840:p.Gly515Val					SLC24A4_uc001yai.2_Missense_Mutation_p.G451V|SLC24A4_uc010twm.1_Missense_Mutation_p.G496V|SLC24A4_uc001yaj.2_Missense_Mutation_p.G479V|SLC24A4_uc010auj.2_Missense_Mutation_p.G387V|SLC24A4_uc010twn.1_Missense_Mutation_p.G271V|SLC24A4_uc001yan.2_Missense_Mutation_p.G209V	p.G498V	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)	15	1517	+		all_cancers(154;0.0347)|all_epithelial(191;0.163)	515			Cytoplasmic (Potential).|Alpha-2.		B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Missense_Mutation	SNP	ENST00000532405.1	37	c.1493G>T	CCDS9903.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.1|27.1	4.804090|4.804090	0.90623|0.90623	.|.	.|.	ENSG00000140090|ENSG00000140090	ENST00000393265;ENST00000531433;ENST00000532405;ENST00000298877;ENST00000351924|ENST00000525557	T;T;T;T;T|.	0.62788|.	0.43;0.0;0.43;0.43;0.0|.	5.56|5.56	5.56|5.56	0.83823|0.83823	Sodium/calcium exchanger membrane region (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77465|0.77465	0.4134|0.4134	M|M	0.75777|0.75777	2.31|2.31	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;1.0|.	T|T	0.76517|0.76517	-0.2930|-0.2930	10|5	0.87932|.	D|.	0|.	.|.	19.5349|19.5349	0.95247|0.95247	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	496;451;515|.	Q8NFF2-3;Q8NFF2-2;Q8NFF2|.	.;.;NCKX4_HUMAN|.	V|C	451;496;515;498;479|380	ENSP00000376948:G451V;ENSP00000433302:G496V;ENSP00000431840:G515V;ENSP00000298877:G498V;ENSP00000337789:G479V|.	ENSP00000298877:G498V|.	G|W	+|+	2|3	0|0	SLC24A4|SLC24A4	92027768|92027768	1.000000|1.000000	0.71417|0.71417	0.915000|0.915000	0.36163|0.36163	0.853000|0.853000	0.48598|0.48598	9.751000|9.751000	0.98889|0.98889	2.618000|2.618000	0.88619|0.88619	0.561000|0.561000	0.74099|0.74099	GGG|TGG		0.478	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395240.1	NM_153646		28	67	1	0	8.58e-18	1.19e-17	28	67				
SLC24A4	123041	broad.mit.edu	37	14	92958081	92958081	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:92958081C>A	ENST00000532405.1	+	15	1836	c.1610C>A	c.(1609-1611)cCg>cAg	p.P537Q	SLC24A4_ENST00000298877.1_Missense_Mutation_p.P520Q|SLC24A4_ENST00000393265.2_Missense_Mutation_p.P473Q|SLC24A4_ENST00000351924.5_Missense_Mutation_p.P501Q|SLC24A4_ENST00000531433.1_Missense_Mutation_p.P518Q			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	537					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CTTGGTGTACCGTGGGGCCTG	0.483																																					NSCLC(10;315 435 10383 28450 38798)	uc001yak.2		NA																	0				breast(2)|ovary(1)	3						c.(1558-1560)CCG>CAG		solute carrier family 24 member 4 isoform 1							185.0	159.0	168.0					14																	92958081		2203	4300	6503	SO:0001583	missense	123041					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr14:92958081C>A	AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"""Solute carriers"""	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.1610C>A	14.37:g.92958081C>A	ENSP00000431840:p.Pro537Gln					SLC24A4_uc001yai.2_Missense_Mutation_p.P473Q|SLC24A4_uc010twm.1_Missense_Mutation_p.P518Q|SLC24A4_uc001yaj.2_Missense_Mutation_p.P501Q|SLC24A4_uc010auj.2_Missense_Mutation_p.P409Q|SLC24A4_uc010twn.1_Missense_Mutation_p.P293Q|SLC24A4_uc001yan.2_Missense_Mutation_p.P231Q	p.P520Q	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)	15	1583	+		all_cancers(154;0.0347)|all_epithelial(191;0.163)	537			Helical; (Potential).		B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Missense_Mutation	SNP	ENST00000532405.1	37	c.1559C>A	CCDS9903.2	.	.	.	.	.	.	.	.	.	.	C	25.0	4.589199	0.86851	.	.	ENSG00000140090	ENST00000393265;ENST00000531433;ENST00000532405;ENST00000298877;ENST00000351924	T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06	5.56	5.56	0.83823	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	D	0.87047	0.6080	H	0.96889	3.9	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.91075	0.4895	10	0.87932	D	0	.	19.5349	0.95247	0.0:1.0:0.0:0.0	.	518;473;537	Q8NFF2-3;Q8NFF2-2;Q8NFF2	.;.;NCKX4_HUMAN	Q	473;518;537;520;501	ENSP00000376948:P473Q;ENSP00000433302:P518Q;ENSP00000431840:P537Q;ENSP00000298877:P520Q;ENSP00000337789:P501Q	ENSP00000298877:P520Q	P	+	2	0	SLC24A4	92027834	1.000000	0.71417	0.716000	0.30569	0.726000	0.41606	7.726000	0.84824	2.618000	0.88619	0.561000	0.74099	CCG		0.483	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395240.1	NM_153646		34	93	1	0	6.71e-13	8.8e-13	34	93				
SERPINA3	12	broad.mit.edu	37	14	95080961	95080961	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:95080961C>A	ENST00000467132.1	+	2	1331	c.183C>A	c.(181-183)taC>taA	p.Y61*	SERPINA3_ENST00000393080.4_Nonsense_Mutation_p.Y61*|RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000393078.3_Nonsense_Mutation_p.Y61*			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	61					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of endopeptidase activity (GO:0010951)|regulation of lipid metabolic process (GO:0019216)|regulation of proteolysis (GO:0030162)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	DNA binding (GO:0003677)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		TCAGCCTGTACAAGCAGTTAG	0.557																																						uc001ydp.2		NA																	0				ovary(2)|central_nervous_system(2)|large_intestine(1)|skin(1)	6						c.(181-183)TAC>TAA		serpin peptidase inhibitor, clade A, member 3							117.0	110.0	112.0					14																	95080961		2203	4300	6503	SO:0001587	stop_gained	12				acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	g.chr14:95080961C>A	K01500	CCDS32150.1	14q32.1	2014-06-03	2005-08-18		ENSG00000196136	ENSG00000196136		"""Serine (or cysteine) peptidase inhibitors"""	16	protein-coding gene	gene with protein product		107280	"""alpha-1-antichymotrypsin"", ""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3"""	AACT		3260956, 24172014	Standard	NM_001085		Approved	ACT, alpha-1-antichymotrypsin	uc001ydp.3	P01011	OTTHUMG00000029851	ENST00000467132.1:c.183C>A	14.37:g.95080961C>A	ENSP00000450540:p.Tyr61*					SERPINA3_uc001ydo.3_Nonsense_Mutation_p.Y86*|SERPINA3_uc010avf.1_RNA|SERPINA3_uc001ydr.2_RNA|SERPINA3_uc001ydq.2_Nonsense_Mutation_p.Y61*|SERPINA3_uc001yds.2_Nonsense_Mutation_p.Y61*|SERPINA3_uc010avg.2_Nonsense_Mutation_p.Y61*	p.Y61*	NM_001085	NP_001076	P01011	AACT_HUMAN		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)	2	262	+		all_cancers(154;0.0525)|all_epithelial(191;0.179)	61					B3KVQ7|Q13703|Q2TU87|Q2TU88|Q59GP9|Q6LBY8|Q6LDT7|Q6NSC9|Q8N177|Q96DW8|Q9UC47|Q9UNU9	Nonsense_Mutation	SNP	ENST00000467132.1	37	c.183C>A	CCDS32150.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.176005	0.57692	.	.	ENSG00000196136	ENST00000553947;ENST00000393078;ENST00000393080;ENST00000555820;ENST00000467132;ENST00000380354	.	.	.	5.04	4.13	0.48395	.	0.417742	0.21745	N	0.069778	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.2676	0.20936	0.1652:0.689:0.0:0.1458	.	.	.	.	X	86;61;61;61;61;61	.	ENSP00000369712:Y61X	Y	+	3	2	SERPINA3	94150714	0.997000	0.39634	0.999000	0.59377	0.144000	0.21451	0.670000	0.25157	2.473000	0.83533	0.561000	0.74099	TAC		0.557	SERPINA3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268080.3	NM_001085		80	127	1	0	1.43e-34	2.13e-34	80	127				
DYNC1H1	1778	broad.mit.edu	37	14	102453804	102453804	+	Silent	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:102453804G>T	ENST00000360184.4	+	9	2717	c.2553G>T	c.(2551-2553)ctG>ctT	p.L851L		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	851	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ATGATCTGCTGATCATTGAAG	0.353																																						uc001yks.2		NA																	0				ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.(2551-2553)CTG>CTT		cytoplasmic dynein 1 heavy chain 1							46.0	46.0	46.0					14																	102453804		2203	4300	6503	SO:0001819	synonymous_variant	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102453804G>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.2553G>T	14.37:g.102453804G>T							p.L851L	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			9	2717	+			851			Stem (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	c.2553G>T	CCDS9966.1																																																																																				0.353	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		21	61	1	0	7.45e-12	9.65e-12	21	61				
TDRD9	122402	broad.mit.edu	37	14	104474748	104474748	+	Splice_Site	SNP	A	A	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:104474748A>C	ENST00000409874.4	+	20	2100		c.e20-1		TDRD9_ENST00000339063.5_Splice_Site	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9						cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|piP-body (GO:0071547)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				ATATATTTAAAGGATGAACTT	0.264																																						uc001yom.3		NA																	0				ovary(2)|central_nervous_system(1)	3						c.e20-2		tudor domain containing 9							64.0	74.0	71.0					14																	104474748		2196	4287	6483	SO:0001630	splice_region_variant	122402				cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr14:104474748A>C	AK093483	CCDS9987.2	14q32.33	2013-01-23	2004-04-01	2004-04-02	ENSG00000156414	ENSG00000156414		"""Tudor domain containing"""	20122	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 75"""	C14orf75			Standard	NM_153046		Approved	DKFZp434N0820, FLJ36164, NET54	uc001yom.4	Q8NDG6	OTTHUMG00000152876	ENST00000409874.4:c.2053-1A>C	14.37:g.104474748A>C						TDRD9_uc001yon.3_Splice_Site_p.D423_splice	p.D685_splice	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN			20	2083	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)						A1A4S7|Q6ZU54|Q8N7T3|Q8N827|Q8N9V5|Q96AS9	Splice_Site	SNP	ENST00000409874.4	37	c.2053_splice	CCDS9987.2	.	.	.	.	.	.	.	.	.	.	A	15.97	2.990709	0.54041	.	.	ENSG00000156414	ENST00000409874;ENST00000339063;ENST00000557332	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.821	0.70074	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TDRD9	103544501	1.000000	0.71417	1.000000	0.80357	0.560000	0.35617	8.315000	0.89983	1.894000	0.54839	0.383000	0.25322	.		0.264	TDRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328325.3	NM_153046	Intron	32	57	0	0	0	0	32	57				
AHNAK2	113146	broad.mit.edu	37	14	105408280	105408280	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:105408280T>C	ENST00000333244.5	-	7	13627	c.13508A>G	c.(13507-13509)cAg>cGg	p.Q4503R	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4503						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GAGGTCCCCCTGCATGGAGGG	0.597																																						uc010axc.1		NA																	0				ovary(1)	1						c.(13507-13509)CAG>CGG		AHNAK nucleoprotein 2							137.0	144.0	142.0					14																	105408280		2024	4177	6201	SO:0001583	missense	113146					nucleus		g.chr14:105408280T>C	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.13508A>G	14.37:g.105408280T>C	ENSP00000353114:p.Gln4503Arg					AHNAK2_uc001ypx.2_Missense_Mutation_p.Q4403R	p.Q4503R	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	13628	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4503					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.13508A>G	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	T	16.78	3.217287	0.58560	.	.	ENSG00000185567	ENST00000333244	T	0.01804	4.63	2.63	2.63	0.31362	.	0.509214	0.14057	U	0.344354	T	0.07548	0.0190	M	0.76002	2.32	0.09310	N	1	D	0.55172	0.97	P	0.61201	0.885	T	0.10706	-1.0618	10	0.44086	T	0.13	-23.27	10.9711	0.47441	0.0:0.0:0.0:1.0	.	4503	Q8IVF2	AHNK2_HUMAN	R	4503	ENSP00000353114:Q4503R	ENSP00000353114:Q4503R	Q	-	2	0	AHNAK2	104479325	0.000000	0.05858	0.002000	0.10522	0.077000	0.17291	0.101000	0.15251	1.216000	0.43427	0.254000	0.18369	CAG		0.597	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		42	211	0	0	0	0	42	211				
OR4N4	283694	broad.mit.edu	37	15	22382673	22382673	+	Silent	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr15:22382673C>A	ENST00000328795.4	+	1	292	c.201C>A	c.(199-201)gcC>gcA	p.A67A	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	67						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GCAACTTGGCCTTCCTGGATG	0.483																																						uc001yuc.1		NA																	0				ovary(4)|skin(1)	5						c.(199-201)GCC>GCA		olfactory receptor, family 4, subfamily N,							150.0	149.0	149.0					15																	22382673		2203	4297	6500	SO:0001819	synonymous_variant	283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22382673C>A	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.201C>A	15.37:g.22382673C>A						LOC727924_uc001yub.1_RNA|OR4N4_uc010tzv.1_Silent_p.A67A	p.A67A	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	7	1182	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	67			Helical; Name=2; (Potential).		Q6IEY3|Q6IF56	Silent	SNP	ENST00000328795.4	37	c.201C>A	CCDS32173.1																																																																																				0.483	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			25	499	1	0	1.46e-29	2.14e-29	25	499				
NPAP1	23742	broad.mit.edu	37	15	24921726	24921726	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr15:24921726G>C	ENST00000329468.2	+	1	1186	c.712G>C	c.(712-714)Gcc>Ccc	p.A238P		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	238					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											GGAAGGCCCTGCCATGCCCAG	0.622																																						uc001ywo.2		NA																	0				ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(712-714)GCC>CCC		hypothetical protein LOC23742							31.0	34.0	33.0					15																	24921726		2203	4299	6502	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24921726G>C	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.712G>C	15.37:g.24921726G>C	ENSP00000333735:p.Ala238Pro						p.A238P	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	1186	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	238						Missense_Mutation	SNP	ENST00000329468.2	37	c.712G>C	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	12.35	1.911825	0.33721	.	.	ENSG00000185823	ENST00000329468	T	0.27890	1.64	1.88	-3.69	0.04450	.	2.976800	0.01496	N	0.017318	T	0.37758	0.1015	L	0.38175	1.15	0.09310	N	1	D	0.71674	0.998	D	0.72075	0.976	T	0.39418	-0.9615	10	0.49607	T	0.09	.	0.2092	0.00154	0.3192:0.2072:0.2651:0.2085	.	238	Q9NZP6	CO002_HUMAN	P	238	ENSP00000333735:A238P	ENSP00000333735:A238P	A	+	1	0	C15orf2	22472819	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.458000	0.21892	-1.041000	0.03266	-0.436000	0.05848	GCC		0.622	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		24	40	0	0	0	0	24	40				
ATP10A	57194	broad.mit.edu	37	15	25959218	25959218	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr15:25959218G>A	ENST00000356865.6	-	10	2058	c.1947C>T	c.(1945-1947)ggC>ggT	p.G649G		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	649					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TGAGAAGCATGCCGTCGCTGG	0.677																																						uc010ayu.2		NA																	0				pancreas(2)|ovary(1)|breast(1)|liver(1)	5						c.(1945-1947)GGC>GGT		ATPase, class V, type 10A							41.0	44.0	43.0					15																	25959218		2203	4300	6503	SO:0001819	synonymous_variant	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25959218G>A	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.1947C>T	15.37:g.25959218G>A							p.G649G	NM_024490	NP_077816	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	10	2053	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	649			Cytoplasmic (Potential).		Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	c.1947C>T	CCDS32178.1																																																																																				0.677	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		22	43	0	0	0	0	22	43				
FMN1	342184	broad.mit.edu	37	15	33261044	33261044	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr15:33261044G>T	ENST00000559047.1	-	5	2857	c.2858C>A	c.(2857-2859)cCc>cAc	p.P953H	FMN1_ENST00000561249.1_Missense_Mutation_p.P855H|FMN1_ENST00000334528.9_Missense_Mutation_p.P730H|SNORD77_ENST00000391113.1_RNA			Q68DA7	FMN1_HUMAN	formin 1	953	FH1.|Pro-rich.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		GGGAGGTGGGGGTGCAAGTCC	0.612																																						uc001zhf.3		NA																	0				ovary(1)	1						c.(2188-2190)CCC>CAC		formin 1							38.0	38.0	38.0					15																	33261044		1790	4037	5827	SO:0001583	missense	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33261044G>T	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2858C>A	15.37:g.33261044G>T	ENSP00000454047:p.Pro953His						p.P730H	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	4	2189	-		all_lung(180;1.14e-07)	953			FH1.|Pro-rich.		Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	ENST00000559047.1	37	c.2189C>A		.	.	.	.	.	.	.	.	.	.	G	15.95	2.984454	0.53934	.	.	ENSG00000248905	ENST00000334528	D	0.88509	-2.39	4.26	4.26	0.50523	.	0.055898	0.64402	D	0.000001	D	0.90147	0.6921	L	0.27053	0.805	.	.	.	D	0.76494	0.999	D	0.65874	0.939	D	0.92473	0.5987	9	0.72032	D	0.01	.	16.8752	0.86050	0.0:0.0:1.0:0.0	.	730	Q68DA7-5	.	H	730	ENSP00000333950:P730H	ENSP00000333950:P730H	P	-	2	0	FMN1	31048336	1.000000	0.71417	0.980000	0.43619	0.978000	0.69477	7.424000	0.80242	2.202000	0.70862	0.650000	0.86243	CCC		0.612	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		26	56	1	0	4.27e-12	5.54e-12	26	56				
ACTC1	70	broad.mit.edu	37	15	35085611	35085611	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr15:35085611G>C	ENST00000290378.4	-	3	944	c.289C>G	c.(289-291)Cgt>Ggt	p.R97G	RP11-814P5.1_ENST00000503496.1_RNA|ACTC1_ENST00000557860.1_5'Flank	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	97			R -> C (in CMH11). {ECO:0000269|PubMed:18403758}.		actin filament-based movement (GO:0030048)|actin-myosin filament sliding (GO:0033275)|actomyosin structure organization (GO:0031032)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle filament sliding (GO:0030049)|negative regulation of apoptotic process (GO:0043066)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|skeletal muscle thin filament assembly (GO:0030240)	actin filament (GO:0005884)|actomyosin, actin portion (GO:0042643)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|I band (GO:0031674)|membrane (GO:0016020)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|myosin binding (GO:0017022)			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GGAGCCACACGGAGCTCATTG	0.562																																						uc001ziu.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2	GRCh37	CM081513	ACTC1	M		c.(289-291)CGT>GGT		cardiac muscle alpha actin 1 proprotein							90.0	84.0	86.0					15																	35085611		2201	4298	6499	SO:0001583	missense	70				apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding	g.chr15:35085611G>C	BC009978	CCDS10041.1	15q14	2014-09-17	2006-08-24	2006-08-24	ENSG00000159251	ENSG00000159251			143	protein-coding gene	gene with protein product		102540	"""actin, alpha, cardiac muscle"""	ACTC		1639426	Standard	NM_005159		Approved	CMD1R	uc001ziu.1	P68032	OTTHUMG00000129675	ENST00000290378.4:c.289C>G	15.37:g.35085611G>C	ENSP00000290378:p.Arg97Gly					uc001zit.1_Intron	p.R97G	NM_005159	NP_005150	P68032	ACTC_HUMAN		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)	3	532	-		all_lung(180;2.3e-08)	97		R -> C (in CMH11).			P04270	Missense_Mutation	SNP	ENST00000290378.4	37	c.289C>G	CCDS10041.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.679549	0.68042	.	.	ENSG00000159251	ENST00000290378	D	0.94613	-3.47	5.63	5.63	0.86233	.	0.000000	0.53938	U	0.000043	D	0.97420	0.9156	M	0.77406	2.37	0.80722	D	1	P	0.38565	0.637	P	0.61397	0.888	D	0.97190	0.9857	10	0.87932	D	0	.	20.0442	0.97604	0.0:0.0:1.0:0.0	.	97	P68032	ACTC_HUMAN	G	97	ENSP00000290378:R97G	ENSP00000290378:R97G	R	-	1	0	ACTC1	32872903	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	7.928000	0.87587	2.814000	0.96858	0.655000	0.94253	CGT		0.562	ACTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251876.3	NM_005159		72	119	0	0	0	0	72	119				
MEIS2	4212	broad.mit.edu	37	15	37388489	37388489	+	Splice_Site	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr15:37388489C>A	ENST00000561208.1	-	3	806		c.e3+1		MEIS2_ENST00000382766.2_Splice_Site|MEIS2_ENST00000397624.3_Splice_Site|MEIS2_ENST00000559085.1_Splice_Site|MEIS2_ENST00000559561.1_Splice_Site|MEIS2_ENST00000557796.2_Splice_Site|MEIS2_ENST00000340545.5_Splice_Site|MEIS2_ENST00000338564.5_Splice_Site|MEIS2_ENST00000424352.2_Splice_Site|MEIS2_ENST00000444725.1_Splice_Site|MEIS2_ENST00000397620.2_Splice_Site|MEIS2_ENST00000219869.9_Intron			O14770	MEIS2_HUMAN	Meis homeobox 2						eye development (GO:0001654)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		GAAGGCTGGACCTGCTTGGCG	0.607																																						uc001zjr.2		NA																	0				ovary(2)	2						c.e3+1		Meis homeobox 2 isoform c							38.0	33.0	34.0					15																	37388489		2200	4297	6497	SO:0001630	splice_region_variant	4212				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr15:37388489C>A	AF017418	CCDS10044.1, CCDS10045.1, CCDS42014.1, CCDS45217.1, CCDS45218.1, CCDS45219.1, CCDS45220.1	15q14	2011-06-20	2007-02-15		ENSG00000134138	ENSG00000134138		"""Homeoboxes / TALE class"""	7001	protein-coding gene	gene with protein product		601740	"""Meis (mouse) homolog 2"", ""Meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse)"""			9383298	Standard	NM_172315		Approved	MRG1, HsT18361	uc001zjr.4	O14770	OTTHUMG00000129781	ENST00000561208.1:c.387+1G>T	15.37:g.37388489C>A						MEIS2_uc001zjl.2_Splice_Site_p.Q116_splice|MEIS2_uc010ucj.1_Splice_Site_p.Q116_splice|MEIS2_uc001zjm.2_Splice_Site_p.Q41_splice|MEIS2_uc001zjn.2_Intron|MEIS2_uc001zjo.2_Splice_Site_p.Q129_splice|MEIS2_uc001zjp.2_Splice_Site_p.Q129_splice|MEIS2_uc001zjs.2_Splice_Site_p.Q129_splice|MEIS2_uc001zju.2_Splice_Site_p.Q116_splice|MEIS2_uc001zjt.2_Splice_Site_p.Q129_splice	p.Q129_splice	NM_170675	NP_733775	O14770	MEIS2_HUMAN		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)	3	1424	-		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)						A6NJI5|A8MWD5|B3KP98|B3KPQ6|Q96DI2|Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	Splice_Site	SNP	ENST00000561208.1	37	c.387_splice	CCDS10044.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.478703	0.84747	.	.	ENSG00000134138	ENST00000314177;ENST00000338564;ENST00000382766;ENST00000424352;ENST00000444725;ENST00000340545;ENST00000397624;ENST00000397620	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7051	0.96069	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MEIS2	35175781	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.790000	0.85794	2.647000	0.89833	0.650000	0.86243	.		0.607	MEIS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252003.2	NM_170677	Intron	4	24	1	0	0.00024832	0.000272669	4	24				
FAM227B	196951	broad.mit.edu	37	15	49869035	49869035	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr15:49869035C>A	ENST00000299338.6	-	7	752	c.449G>T	c.(448-450)aGc>aTc	p.S150I	FAM227B_ENST00000558594.1_3'UTR|FAM227B_ENST00000561064.1_Missense_Mutation_p.S150I|FAM227B_ENST00000560246.1_3'UTR	NM_152647.2	NP_689860.2	Q96M60	F227B_HUMAN	family with sequence similarity 227, member B	150																	TCCTGTGAAGCTGCAACCCTA	0.328																																						uc001zxl.2		NA																	0				ovary(1)	1						c.(448-450)AGC>ATC		hypothetical protein LOC196951							36.0	40.0	39.0					15																	49869035		2196	4295	6491	SO:0001583	missense	196951							g.chr15:49869035C>A		CCDS32237.1	15q21.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000166262	ENSG00000166262			26543	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 33"""	C15orf33			Standard	NM_152647		Approved	FLJ32800	uc001zxl.2	Q96M60	OTTHUMG00000172328	ENST00000299338.6:c.449G>T	15.37:g.49869035C>A	ENSP00000299338:p.Ser150Ile					C15orf33_uc001zxm.2_Missense_Mutation_p.S150I	p.S150I	NM_152647	NP_689860	Q96M60	CO033_HUMAN		all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124)	7	743	-		all_lung(180;0.00187)	150					Q86WS2	Missense_Mutation	SNP	ENST00000299338.6	37	c.449G>T	CCDS32237.1	.	.	.	.	.	.	.	.	.	.	C	10.89	1.478769	0.26511	.	.	ENSG00000166262	ENST00000299338;ENST00000354658	.	.	.	4.79	-9.58	0.00559	.	0.909263	0.09367	N	0.811914	T	0.20981	0.0505	N	0.19112	0.55	0.29002	N	0.887389	B;B	0.30973	0.062;0.302	B;B	0.26614	0.071;0.048	T	0.28650	-1.0037	9	0.72032	D	0.01	-10.2309	9.7919	0.40710	0.0:0.3759:0.4505:0.1737	.	150;150	Q96M60-2;Q96M60	.;CO033_HUMAN	I	150	.	ENSP00000299338:S150I	S	-	2	0	C15orf33	47656327	0.000000	0.05858	0.006000	0.13384	0.898000	0.52572	-4.083000	0.00298	-1.932000	0.01053	-0.966000	0.02617	AGC		0.328	FAM227B-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417872.1	NM_152647		18	27	1	0	3.53e-06	4.07e-06	18	27				
UNC13C	440279	broad.mit.edu	37	15	54307972	54307972	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr15:54307972C>T	ENST00000260323.11	+	1	2872	c.2872C>T	c.(2872-2874)Cag>Tag	p.Q958*	UNC13C_ENST00000545554.1_Nonsense_Mutation_p.Q958*|UNC13C_ENST00000537900.1_Nonsense_Mutation_p.Q958*	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	958					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CATTCCTGAACAGCCAGTGGA	0.403																																						uc002ack.2		NA																	0				ovary(5)|pancreas(2)	7						c.(2872-2874)CAG>TAG		unc-13 homolog C							63.0	60.0	60.0					15																	54307972		1849	4099	5948	SO:0001587	stop_gained	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54307972C>T	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.2872C>T	15.37:g.54307972C>T	ENSP00000260323:p.Gln958*						p.Q958*	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	2872	+			958					Q0P613|Q8ND48|Q96NP3	Nonsense_Mutation	SNP	ENST00000260323.11	37	c.2872C>T	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	C	39	7.499944	0.98322	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	.	.	.	5.58	-0.752	0.11072	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	8.8901	0.35427	0.3677:0.3153:0.317:0.0	.	.	.	.	X	958	.	ENSP00000260323:Q958X	Q	+	1	0	UNC13C	52095264	0.113000	0.22115	0.062000	0.19696	0.993000	0.82548	0.937000	0.28951	0.246000	0.21394	0.650000	0.86243	CAG		0.403	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		4	21	0	0	0	0	4	21				
IQCH	64799	broad.mit.edu	37	15	67652185	67652185	+	Splice_Site	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr15:67652185G>T	ENST00000335894.4	+	8	781	c.715G>T	c.(715-717)Ggg>Tgg	p.G239W	IQCH_ENST00000358767.3_Splice_Site_p.G66W|IQCH_ENST00000546225.1_5'UTR	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	239										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		TTCATTGTAGGGGAAAAGCAG	0.418																																						uc002aqo.1		NA																	0				skin(3)|ovary(1)	4						c.(715-717)GGG>TGG		IQ motif containing H isoform 1							249.0	229.0	236.0					15																	67652185		2201	4299	6500	SO:0001630	splice_region_variant	64799							g.chr15:67652185G>T	AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.715-1G>T	15.37:g.67652185G>T						IQCH_uc010ujv.1_Intron|IQCH_uc002aqn.1_Missense_Mutation_p.G66W|IQCH_uc002aqq.1_5'UTR|IQCH_uc002aqp.1_5'UTR	p.G239W	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN		Colorectal(3;0.0856)	8	762	+			239					A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Missense_Mutation	SNP	ENST00000335894.4	37	c.715G>T	CCDS32273.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.201009	0.38905	.	.	ENSG00000103599	ENST00000358767;ENST00000335894	T;T	0.45276	0.9;0.92	5.78	4.86	0.63082	.	0.505331	0.19784	N	0.106142	T	0.30823	0.0777	L	0.31294	0.92	0.80722	D	1	B;B	0.21071	0.01;0.051	B;B	0.19391	0.005;0.025	T	0.06698	-1.0812	9	.	.	.	-1.1171	12.2093	0.54371	0.0:0.0:0.8295:0.1705	.	239;66	Q86VS3;Q86VS3-3	IQCH_HUMAN;.	W	66;239	ENSP00000351617:G66W;ENSP00000336861:G239W	.	G	+	1	0	IQCH	65439239	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.909000	0.48758	1.437000	0.47472	0.655000	0.94253	GGG		0.418	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256969.1	NM_022784	Missense_Mutation	26	186	1	0	3.73e-12	4.86e-12	26	186				
ETFA	2108	broad.mit.edu	37	15	76588079	76588079	+	Splice_Site	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr15:76588079C>A	ENST00000557943.1	-	2	120		c.e2-1		ETFA_ENST00000559602.1_Intron|ETFA_ENST00000560726.1_Intron|ETFA_ENST00000433983.2_Intron	NM_000126.3	NP_000117.1	P13804	ETFA_HUMAN	electron-transfer-flavoprotein, alpha polypeptide						cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity (GO:0016491)			endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						GCAATGAGGCCTAAAAAGAGC	0.353																																						uc002bbt.2		NA																	0					0						c.e2-1		electron transfer flavoprotein, alpha							56.0	53.0	54.0					15																	76588079		2197	4294	6491	SO:0001630	splice_region_variant	2108				respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity	g.chr15:76588079C>A	J04058	CCDS32299.1, CCDS45311.1	15q23-q25	2012-04-04	2008-08-01		ENSG00000140374	ENSG00000140374			3481	protein-coding gene	gene with protein product	"""glutaric aciduria II"""	608053					Standard	NM_000126		Approved	GA2, EMA, MADD	uc002bbt.2	P13804	OTTHUMG00000172586	ENST00000557943.1:c.40-1G>T	15.37:g.76588079C>A						ETFA_uc010bkq.1_Intron|ETFA_uc002bbu.1_Splice_Site_p.A14_splice	p.A14_splice	NM_000126	NP_000117	P13804	ETFA_HUMAN			2	121	-								B4DT43|Q53XN3	Splice_Site	SNP	ENST00000557943.1	37	c.40_splice	CCDS32299.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.631305	0.67015	.	.	ENSG00000140374	ENST00000267950	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8611	0.88781	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ETFA	74375134	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	7.092000	0.76930	2.468000	0.83385	0.467000	0.42956	.		0.353	ETFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419302.2	NM_000126	Intron	16	49	1	0	6.94e-10	8.75e-10	16	49				
FAH	2184	broad.mit.edu	37	15	80450432	80450432	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr15:80450432G>A	ENST00000407106.1	+	3	267	c.112G>A	c.(112-114)Gac>Aac	p.D38N	FAH_ENST00000261755.5_Missense_Mutation_p.D38N|FAH_ENST00000539156.1_5'UTR|FAH_ENST00000561421.1_Missense_Mutation_p.D38N			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	38					arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	fumarylacetoacetase activity (GO:0004334)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGCCATTGGCGACCAGATCCT	0.527									Tyrosinemia, type 1																													uc002bfj.2		NA																	0					0						c.(112-114)GAC>AAC		fumarylacetoacetase							251.0	206.0	221.0					15																	80450432		2203	4300	6503	SO:0001583	missense	2184	Tyrosinemia_type_1	Familial Cancer Database	Fumarylacetoacetase Deficiency, Hepatorenal Tyrosinemia, Hereditary Tyrosinemia 1, HT1	L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding	g.chr15:80450432G>A	M55150	CCDS10314.1	15q25.1	2012-08-30			ENSG00000103876	ENSG00000103876	3.7.1.2		3579	protein-coding gene	gene with protein product		613871				1998338, 2336361	Standard	NM_000137		Approved		uc002bfm.2	P16930	OTTHUMG00000144187	ENST00000407106.1:c.112G>A	15.37:g.80450432G>A	ENSP00000385080:p.Asp38Asn					FAH_uc002bfk.1_Missense_Mutation_p.D38N|FAH_uc002bfm.1_Missense_Mutation_p.D38N|FAH_uc002bfn.1_5'UTR|FAH_uc010unl.1_Missense_Mutation_p.D38N|FAH_uc002bfl.1_Missense_Mutation_p.D38N	p.D38N	NM_000137	NP_000128	P16930	FAAA_HUMAN			3	194	+			38					B2R9X1|D3DW95|Q53XA7	Missense_Mutation	SNP	ENST00000407106.1	37	c.112G>A	CCDS10314.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.448373	0.63178	.	.	ENSG00000103876	ENST00000407106;ENST00000537726;ENST00000261755	D;D	0.90563	-2.69;-2.69	4.45	4.45	0.53987	Fumarylacetoacetase, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.86785	0.6016	M	0.64567	1.98	0.80722	D	1	P;B	0.35821	0.523;0.025	B;B	0.31016	0.123;0.02	D	0.86266	0.1658	10	0.46703	T	0.11	-32.5488	10.3282	0.43807	0.0952:0.0:0.9048:0.0	.	38;38	B7Z4W2;P16930	.;FAAA_HUMAN	N	38	ENSP00000385080:D38N;ENSP00000261755:D38N	ENSP00000261755:D38N	D	+	1	0	FAH	78237487	1.000000	0.71417	0.933000	0.37362	0.484000	0.33280	5.284000	0.65627	2.314000	0.78098	0.561000	0.74099	GAC		0.527	FAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291392.2			41	202	0	0	0	0	41	202				
TMC3	342125	broad.mit.edu	37	15	81650821	81650821	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr15:81650821A>T	ENST00000359440.5	-	6	657	c.522T>A	c.(520-522)ttT>ttA	p.F174L	TMC3_ENST00000558726.1_Missense_Mutation_p.F174L|RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						CTGTGCTTCCAAAGGGCTGGC	0.567																																						uc002bgo.1		NA																	0				ovary(1)|liver(1)	2						c.(520-522)TTT>TTA		transmembrane channel-like 3							72.0	79.0	77.0					15																	81650821		2031	4200	6231	SO:0001583	missense	342125					integral to membrane		g.chr15:81650821A>T	AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.522T>A	15.37:g.81650821A>T	ENSP00000352413:p.Phe174Leu					TMC3_uc010blr.1_RNA|TMC3_uc002bgp.2_Missense_Mutation_p.F174L	p.F174L	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN			6	522	-			174			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000359440.5	37	c.522T>A	CCDS45324.1	.	.	.	.	.	.	.	.	.	.	A	15.60	2.882479	0.51908	.	.	ENSG00000188869	ENST00000359440	T	0.65364	-0.15	5.21	-4.34	0.03666	.	0.062848	0.64402	D	0.000004	T	0.51669	0.1688	L	0.38175	1.15	0.51233	D	0.999914	P;P	0.47350	0.51;0.894	B;P	0.45856	0.149;0.495	T	0.55231	-0.8173	10	0.41790	T	0.15	-19.3926	15.126	0.72483	0.4688:0.0:0.5312:0.0	.	174;174	Q7Z5M5-2;Q7Z5M5	.;TMC3_HUMAN	L	174	ENSP00000352413:F174L	ENSP00000352413:F174L	F	-	3	2	TMC3	79437876	0.195000	0.23338	0.915000	0.36163	0.437000	0.31866	-0.289000	0.08365	-0.704000	0.05042	-0.256000	0.11100	TTT		0.567	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841		8	30	0	0	0	0	8	30				
AP3B2	8120	broad.mit.edu	37	15	83333627	83333627	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr15:83333627G>T	ENST00000261722.3	-	17	2247	c.2040C>A	c.(2038-2040)gaC>gaA	p.D680E	AP3B2_ENST00000535359.1_Missense_Mutation_p.D699E|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Missense_Mutation_p.D648E	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	680	Glu/Ser-rich.				anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CCCCCTCAGAGTCCGAGTAGA	0.567																																						uc010uoh.1		NA																	0				ovary(3)|breast(1)|pancreas(1)	5						c.(2038-2040)GAC>GAA		adaptor-related protein complex 3, beta 2							35.0	34.0	34.0					15																	83333627		1926	4142	6068	SO:0001583	missense	8120				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity	g.chr15:83333627G>T	U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.2040C>A	15.37:g.83333627G>T	ENSP00000261722:p.Asp680Glu					AP3B2_uc010uoi.1_Missense_Mutation_p.D699E|AP3B2_uc010uoj.1_Missense_Mutation_p.D648E|AP3B2_uc010bmp.2_5'Flank|AP3B2_uc010uog.1_Missense_Mutation_p.D316E|AP3B2_uc002biy.1_5'Flank	p.D680E	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		17	2217	-			680			Glu/Ser-rich.		A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Missense_Mutation	SNP	ENST00000261722.3	37	c.2040C>A	CCDS45331.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.255324	0.39896	.	.	ENSG00000103723	ENST00000261722;ENST00000535348;ENST00000535359	D;D;D	0.97016	-4.21;-4.21;-4.21	5.44	2.51	0.30379	.	0.141703	0.64402	D	0.000008	D	0.92609	0.7652	L	0.28694	0.88	0.80722	D	1	D;B;B	0.61697	0.99;0.142;0.115	P;B;B	0.51615	0.675;0.076;0.056	D	0.88921	0.3366	10	0.07030	T	0.85	-30.6103	8.1857	0.31337	0.3735:0.0:0.6265:0.0	.	648;699;680	B7ZKR7;B7ZKS0;Q13367	.;.;AP3B2_HUMAN	E	680;648;699	ENSP00000261722:D680E;ENSP00000438721:D648E;ENSP00000440984:D699E	ENSP00000261722:D680E	D	-	3	2	AP3B2	81130682	1.000000	0.71417	0.899000	0.35326	0.951000	0.60555	2.812000	0.47994	0.654000	0.30846	0.655000	0.94253	GAC		0.567	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397463.1			3	21	1	0	0.004672	0.00490617	3	21				
AP3B2	8120	broad.mit.edu	37	15	83335614	83335614	+	Silent	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr15:83335614C>A	ENST00000261722.3	-	15	1944	c.1737G>T	c.(1735-1737)gcG>gcT	p.A579A	AP3B2_ENST00000535359.1_Silent_p.A579A|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Silent_p.A547A	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	579					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GGGTGAAGCGCGCCCGGTCGC	0.597																																						uc010uoh.1		NA																	0				ovary(3)|breast(1)|pancreas(1)	5						c.(1735-1737)GCG>GCT		adaptor-related protein complex 3, beta 2							64.0	72.0	70.0					15																	83335614		1955	4132	6087	SO:0001819	synonymous_variant	8120				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity	g.chr15:83335614C>A	U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.1737G>T	15.37:g.83335614C>A						AP3B2_uc010uoi.1_Silent_p.A579A|AP3B2_uc010uoj.1_Silent_p.A547A|AP3B2_uc010uog.1_Silent_p.A215A	p.A579A	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		15	1914	-			579					A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Silent	SNP	ENST00000261722.3	37	c.1737G>T	CCDS45331.1																																																																																				0.597	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397463.1			28	92	1	0	1.04e-07	1.26e-07	28	92				
SPATA8	145946	broad.mit.edu	37	15	97327404	97327404	+	Silent	SNP	A	A	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr15:97327404A>G	ENST00000328504.3	+	2	378	c.111A>G	c.(109-111)tcA>tcG	p.S37S	SPATA8_ENST00000558553.1_5'UTR|SPATA8-AS1_ENST00000558722.1_RNA|SPATA8-AS1_ENST00000560888.1_RNA	NM_173499.3	NP_775770.1	Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8	37										large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			GACATTTCTCAGAAGCCATGA	0.582																																						uc002bue.2		NA																	0				ovary(1)|skin(1)	2						c.(109-111)TCA>TCG		spermatogenesis associated 8							77.0	74.0	75.0					15																	97327404		2197	4298	6495	SO:0001819	synonymous_variant	145946							g.chr15:97327404A>G	AY489187	CCDS10376.1	15q26	2008-02-05			ENSG00000185594	ENSG00000185594			28676	protein-coding gene	gene with protein product		613948					Standard	NM_173499		Approved	MGC44294	uc002bue.3	Q6RVD6	OTTHUMG00000149847	ENST00000328504.3:c.111A>G	15.37:g.97327404A>G						uc010urp.1_5'Flank|uc002bud.1_5'Flank	p.S37S	NM_173499	NP_775770	Q6RVD6	SPAT8_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0718)		2	321	+	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		37					Q2KJ07	Silent	SNP	ENST00000328504.3	37	c.111A>G	CCDS10376.1																																																																																				0.582	SPATA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313533.1	NM_173499		34	86	0	0	0	0	34	86				
PIGQ	9091	broad.mit.edu	37	16	632905	632905	+	Silent	SNP	G	G	T	rs201105616		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr16:632905G>T	ENST00000026218.5	+	10	1642	c.1554G>T	c.(1552-1554)ccG>ccT	p.P518P	PIGQ_ENST00000409527.2_Missense_Mutation_p.R539L|PIGQ_ENST00000321878.5_Missense_Mutation_p.R539L	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	518	Leu-rich.				C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				CCCTACAGCCGCGTGGTGCAC	0.667																																						uc002cho.2		NA																	0				central_nervous_system(1)	1						c.(1552-1554)CCG>CCT		phosphatidylinositol glycan anchor biosynthesis,							95.0	104.0	101.0					16																	632905		2201	4300	6501	SO:0001819	synonymous_variant	9091				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity	g.chr16:632905G>T	AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541		"""Phosphatidylinositol glycan anchor biosynthesis"""	14135	protein-coding gene	gene with protein product		605754	"""phosphatidylinositol glycan, class Q"""			9463366, 9729469	Standard	NM_004204		Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.1554G>T	16.37:g.632905G>T						PIGQ_uc010bqw.2_Missense_Mutation_p.R539L|PIGQ_uc002chn.2_Missense_Mutation_p.R539L|PIGQ_uc010uui.1_3'UTR|PIGQ_uc002chp.2_Silent_p.P88P|uc010uuj.1_3'UTR	p.P518P	NM_148920	NP_683721	Q9BRB3	PIGQ_HUMAN			10	1656	+		Hepatocellular(780;0.00335)	518			Leu-rich.		A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Silent	SNP	ENST00000026218.5	37	c.1554G>T	CCDS10411.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.354495	0.24512	.	.	ENSG00000007541	ENST00000409527;ENST00000321878;ENST00000540241	T;T	0.43688	0.94;0.94	5.34	-4.06	0.03986	.	.	.	.	.	T	0.22437	0.0541	.	.	.	0.09310	N	0.999998	B	0.25563	0.129	B	0.21546	0.035	T	0.17379	-1.0371	8	0.26408	T	0.33	-22.8373	6.3463	0.21351	0.469:0.0:0.4163:0.1147	.	539	Q9BRB3-2	.	L	539;539;97	ENSP00000386760:R539L;ENSP00000326674:R539L	ENSP00000326674:R539L	R	+	2	0	PIGQ	572906	0.000000	0.05858	0.000000	0.03702	0.629000	0.37895	-0.255000	0.08769	-1.157000	0.02815	-0.368000	0.07277	CGC		0.667	PIGQ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000239270.2	NM_004204		103	145	1	0	4.85e-53	7.41e-53	103	145				
CEMP1	752014	broad.mit.edu	37	16	2580803	2580803	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr16:2580803C>T	ENST00000567119.1	-	1	606	c.272G>A	c.(271-273)tGt>tAt	p.C91Y	CEMP1_ENST00000382350.1_Missense_Mutation_p.C91Y|AMDHD2_ENST00000413459.3_3'UTR|MIR3178_ENST00000581887.1_RNA|AMDHD2_ENST00000565570.1_3'UTR|AMDHD2_ENST00000302956.4_3'UTR|CEMP1_ENST00000565480.1_Intron	NM_001048212.3	NP_001041677.1	Q6PRD7	CEMP1_HUMAN	cementum protein 1	91						cytoplasm (GO:0005737)				lung(1)|skin(1)	2						TCTCAGCCCACAAGCCCCAGG	0.657																																						uc002cqr.2		NA																	0				skin(1)	1						c.(271-273)TGT>TAT		cementum protein 1							34.0	41.0	39.0					16																	2580803		2011	4158	6169	SO:0001583	missense	752014					cytoplasm		g.chr16:2580803C>T	AY584596	CCDS42108.1	16p13.3	2006-09-22							32553	protein-coding gene	gene with protein product	"""cementum protein-23"""	611113				16263347	Standard	NM_001048212		Approved	CP-23	uc002cqr.3	Q6PRD7		ENST00000567119.1:c.272G>A	16.37:g.2580803C>T	ENSP00000457380:p.Cys91Tyr					AMDHD2_uc010uwc.1_3'UTR|AMDHD2_uc010uwd.1_3'UTR	p.C91Y	NM_001048212	NP_001041677	Q6PRD7	CEMP1_HUMAN			1	628	-			91					B2RUY1	Missense_Mutation	SNP	ENST00000567119.1	37	c.272G>A	CCDS42108.1	.	.	.	.	.	.	.	.	.	.	C	1.893	-0.454931	0.04540	.	.	ENSG00000205923	ENST00000382350	T	0.56275	0.47	1.92	-3.28	0.05033	.	.	.	.	.	T	0.25938	0.0632	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13872	-1.0493	9	0.87932	D	0	.	3.4085	0.07350	0.0:0.3282:0.213:0.4588	.	91	Q6PRD7	CEMP1_HUMAN	Y	91	ENSP00000371787:C91Y	ENSP00000371787:C91Y	C	-	2	0	CEMP1	2520804	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-3.111000	0.00599	-0.852000	0.04141	-1.010000	0.02471	TGT		0.657	CEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435686.1	NM_001048212		29	47	0	0	0	0	29	47				
XYLT1	64131	broad.mit.edu	37	16	17202577	17202577	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr16:17202577A>G	ENST00000261381.6	-	12	2939	c.2855T>C	c.(2854-2856)gTc>gCc	p.V952A		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	952					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ATCAGGTTTGACTGCCCCCAG	0.662																																						uc002dfa.2		NA																	0				ovary(4)	4						c.(2854-2856)GTC>GCC		xylosyltransferase I							24.0	22.0	22.0					16																	17202577		2197	4300	6497	SO:0001583	missense	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17202577A>G	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.2855T>C	16.37:g.17202577A>G	ENSP00000261381:p.Val952Ala						p.V952A	NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN			12	2940	-			952			Lumenal (Potential).		Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	37	c.2855T>C	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.218779	0.79464	.	.	ENSG00000103489	ENST00000261381	T	0.06142	3.34	5.7	5.7	0.88788	.	0.159967	0.56097	D	0.000030	T	0.10551	0.0258	M	0.67397	2.05	0.46823	D	0.999217	P	0.39665	0.682	B	0.36134	0.218	T	0.01371	-1.1372	10	0.72032	D	0.01	-54.8723	15.1442	0.72637	1.0:0.0:0.0:0.0	.	952	Q86Y38	XYLT1_HUMAN	A	952	ENSP00000261381:V952A	ENSP00000261381:V952A	V	-	2	0	XYLT1	17110078	1.000000	0.71417	0.996000	0.52242	0.973000	0.67179	5.624000	0.67764	2.161000	0.67846	0.533000	0.62120	GTC		0.662	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		5	42	0	0	0	0	5	42				
TNRC6A	27327	broad.mit.edu	37	16	24801674	24801674	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr16:24801674G>A	ENST00000395799.3	+	6	1840	c.1711G>A	c.(1711-1713)Ggt>Agt	p.G571S	TNRC6A_ENST00000315183.7_Missense_Mutation_p.G571S	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	571	Interaction with argonaute family proteins.|Sufficient for interaction with AGO1 and AGO4.|Sufficient for interaction with AGO2.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		AAACAAAGGAGGTGGTGTGTG	0.488																																						uc002dmm.2		NA																	0				ovary(2)	2						c.(1711-1713)GGT>AGT		trinucleotide repeat containing 6A							114.0	109.0	111.0					16																	24801674		2197	4300	6497	SO:0001583	missense	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24801674G>A	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.1711G>A	16.37:g.24801674G>A	ENSP00000379144:p.Gly571Ser					TNRC6A_uc010bxs.2_Missense_Mutation_p.G318S|TNRC6A_uc010vcc.1_Missense_Mutation_p.G318S|TNRC6A_uc002dmn.2_Missense_Mutation_p.G318S|TNRC6A_uc002dmo.2_Missense_Mutation_p.G318S	p.G571S	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	6	1825	+			571			Sufficient for interaction with EIF2C2.|Sufficient for interaction with EIF2C1 and EIF2C4.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	c.1711G>A	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	G	14.63	2.592905	0.46214	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.11821	2.75;2.74	5.79	5.79	0.91817	.	0.261032	0.37053	N	0.002267	T	0.19565	0.0470	L	0.49350	1.555	0.80722	D	1	P;P;P	0.52577	0.908;0.793;0.954	B;B;P	0.47206	0.389;0.344;0.541	T	0.00172	-1.1958	10	0.48119	T	0.1	-6.9334	14.222	0.65833	0.0711:0.0:0.9289:0.0	.	318;571;571	Q8NDV7-2;Q8NDV7-6;Q8NDV7	.;.;TNR6A_HUMAN	S	571	ENSP00000326900:G571S;ENSP00000379144:G571S	ENSP00000326900:G571S	G	+	1	0	TNRC6A	24709175	1.000000	0.71417	0.997000	0.53966	0.696000	0.40369	6.065000	0.71176	2.735000	0.93741	0.563000	0.77884	GGT		0.488	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		27	96	0	0	0	0	27	96				
ZNF720	124411	broad.mit.edu	37	16	31733987	31733987	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr16:31733987G>T	ENST00000316491.9	+	2	243	c.44G>T	c.(43-45)cGg>cTg	p.R15L	ZNF720_ENST00000531864.2_Intron|ZNF720_ENST00000539915.1_Intron|ZNF720_ENST00000398696.3_Intron|ZNF720_ENST00000399681.3_5'UTR|ZNF720_ENST00000534369.1_Intron	NM_001130913.1	NP_001124385.1	Q7Z2F6	ZN720_HUMAN	zinc finger protein 720	15	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			endometrium(1)|kidney(1)|lung(1)|stomach(1)	4						GAATTCTCTCGGGAGGAGTGG	0.458																																						uc002ecn.3		NA																	0					0						c.(43-45)CGG>CTG		zinc finger protein 720							129.0	131.0	131.0					16																	31733987		692	1591	2283	SO:0001583	missense	124411				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding	g.chr16:31733987G>T	AK128671	CCDS45473.1	16p11.2	2013-01-08				ENSG00000197302		"""Zinc fingers, C2H2-type"", ""-"""	26987	protein-coding gene	gene with protein product							Standard	NM_001130913		Approved		uc002ecq.3	Q7Z2F6		ENST00000316491.9:c.44G>T	16.37:g.31733987G>T	ENSP00000319222:p.Arg15Leu					ZNF720_uc010vfs.1_5'UTR|ZNF720_uc002eco.2_Intron|ZNF720_uc002ecp.1_Intron|ZNF720_uc002ecq.2_Missense_Mutation_p.R17L	p.R15L	NM_001130913	NP_001124385	Q7Z2F6	ZN720_HUMAN			2	248	+			15			KRAB.		Q6ZQX1	Missense_Mutation	SNP	ENST00000316491.9	37	c.44G>T	CCDS45473.1	.	.	.	.	.	.	.	.	.	.	g	0.001	-3.328924	0.00017	.	.	ENSG00000197302	ENST00000316491;ENST00000530881;ENST00000529515	T;T;T	0.01838	4.61;4.61;4.61	1.68	-3.35	0.04928	Krueppel-associated box (4);	.	.	.	.	T	0.01029	0.0034	N	0.13235	0.315	0.09310	N	0.999998	B	0.02656	0.0	B	0.06405	0.002	T	0.47235	-0.9133	9	0.02654	T	1	.	1.6142	0.02700	0.2017:0.3891:0.2686:0.1407	.	15	Q7Z2F6	ZN720_HUMAN	L	15;56;15	ENSP00000319222:R15L;ENSP00000435171:R56L;ENSP00000437310:R15L	ENSP00000319222:R15L	R	+	2	0	ZNF720	31641488	0.001000	0.12720	0.000000	0.03702	0.007000	0.05969	-2.495000	0.00971	-3.080000	0.00251	-2.705000	0.00135	CGG		0.458	ZNF720-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394883.3	NM_001004300		31	123	1	0	9.86e-13	1.29e-12	31	123				
ABCC11	85320	broad.mit.edu	37	16	48232119	48232119	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr16:48232119C>T	ENST00000394747.1	-	15	2499	c.2150G>A	c.(2149-2151)aGt>aAt	p.S717N	ABCC11_ENST00000356608.2_Missense_Mutation_p.S717N|ABCC11_ENST00000394748.1_Missense_Mutation_p.S717N|ABCC11_ENST00000537808.1_Missense_Mutation_p.S717N|ABCC11_ENST00000353782.5_Missense_Mutation_p.S717N	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	717	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	CATTAACTCACTGTGAGTTCC	0.438																																						uc002eff.1		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(2149-2151)AGT>AAT		ATP-binding cassette, sub-family C, member 11							180.0	168.0	172.0					16																	48232119		2201	4300	6501	SO:0001583	missense	85320	Cerumen_Type				integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48232119C>T	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.2150G>A	16.37:g.48232119C>T	ENSP00000378230:p.Ser717Asn					ABCC11_uc002efg.1_Missense_Mutation_p.S717N|ABCC11_uc002efh.1_Missense_Mutation_p.S717N|ABCC11_uc010vgk.1_RNA	p.S717N	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN			15	2500	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	717			ABC transporter 1.|Cytoplasmic (Potential).		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	c.2150G>A	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	C	6.018	0.371661	0.11409	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15	5.69	-2.73	0.05950	ABC transporter-like (1);	0.707775	0.14400	N	0.321945	T	0.36303	0.0962	N	0.13168	0.305	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.003	T	0.12760	-1.0535	10	0.31617	T	0.26	-0.2843	6.5429	0.22390	0.126:0.2515:0.0:0.6225	.	717;717	Q96J66-2;Q96J66	.;ABCCB_HUMAN	N	717	ENSP00000311326:S717N;ENSP00000349017:S717N;ENSP00000378231:S717N;ENSP00000378230:S717N;ENSP00000438530:S717N	ENSP00000311326:S717N	S	-	2	0	ABCC11	46789620	0.000000	0.05858	0.182000	0.23118	0.193000	0.23685	-0.222000	0.09190	-0.464000	0.06963	0.561000	0.74099	AGT		0.438	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		30	150	0	0	0	0	30	150				
ABCC11	85320	broad.mit.edu	37	16	48278415	48278415	+	Intron	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr16:48278415T>A	ENST00000356608.2	-	1	81				LONP2_ENST00000285737.4_Missense_Mutation_p.L39Q|LONP2_ENST00000535754.1_Missense_Mutation_p.L39Q|ABCC11_ENST00000537808.1_Intron			Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11						organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	GCCCGCAACCTGCAGCTGGTG	0.701																																						uc002efi.1		NA																	0					0						c.(115-117)CTG>CAG		peroxisomal LON protease-like							18.0	15.0	16.0					16																	48278415		2192	4288	6480	SO:0001627	intron_variant	83752				misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity	g.chr16:48278415T>A	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000356608.2:c.17+2809A>T	16.37:g.48278415T>A						LONP2_uc010vgm.1_RNA|LONP2_uc002efj.1_Missense_Mutation_p.L39Q|ABCC11_uc010vgl.1_Intron	p.L39Q	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN			1	205	+			39			Lon.		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000356608.2	37	c.116T>A	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.193487	0.78902	.	.	ENSG00000102910	ENST00000285737;ENST00000535754;ENST00000416006	T;T;T	0.50001	0.76;0.76;0.76	5.21	4.12	0.48240	Peptidase S16, lon N-terminal (1);PUA-like domain (1);	0.093988	0.64402	D	0.000001	T	0.43656	0.1257	L	0.27053	0.805	0.48236	D	0.999612	P;P	0.42518	0.782;0.782	P;P	0.48598	0.583;0.583	T	0.43130	-0.9410	10	0.87932	D	0	-5.9854	10.98	0.47488	0.0:0.0731:0.0:0.9269	.	39;39	B7ZKL7;Q86WA8	.;LONP2_HUMAN	Q	39	ENSP00000285737:L39Q;ENSP00000445426:L39Q;ENSP00000415983:L39Q	ENSP00000285737:L39Q	L	+	2	0	LONP2	46835916	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.802000	0.69122	1.009000	0.39289	0.482000	0.46254	CTG		0.701	ABCC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256843.1	NM_032583		6	5	0	0	0	0	6	5				
ZNF423	23090	broad.mit.edu	37	16	49669635	49669635	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr16:49669635T>A	ENST00000561648.1	-	4	3481	c.3428A>T	c.(3427-3429)cAc>cTc	p.H1143L	ZNF423_ENST00000262383.2_Missense_Mutation_p.H1143L|ZNF423_ENST00000562520.1_Missense_Mutation_p.H1083L|ZNF423_ENST00000562871.1_Missense_Mutation_p.H1083L|ZNF423_ENST00000563137.2_Missense_Mutation_p.H1083L|ZNF423_ENST00000567169.1_Missense_Mutation_p.H1026L|ZNF423_ENST00000535559.1_Missense_Mutation_p.H1026L	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1143					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GAGGTCACGGTGGTCCACCTG	0.672																																						uc002efs.2		NA																	0				ovary(1)|lung(1)|kidney(1)|pancreas(1)	4						c.(3427-3429)CAC>CTC		zinc finger protein 423							74.0	71.0	72.0					16																	49669635		2199	4300	6499	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49669635T>A	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.3428A>T	16.37:g.49669635T>A	ENSP00000455426:p.His1143Leu					ZNF423_uc010vgn.1_Missense_Mutation_p.H1026L	p.H1143L	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN			5	3726	-		all_cancers(37;0.0155)	1143			C2H2-type 26.		O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.3428A>T	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	T	15.87	2.961367	0.53400	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.12672	2.66;2.75	5.04	5.04	0.67666	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	D	0.000000	T	0.12347	0.0300	L	0.34521	1.04	0.58432	D	0.999996	B	0.18461	0.028	B	0.24006	0.05	T	0.10590	-1.0623	9	.	.	.	-13.1038	14.8055	0.69952	0.0:0.0:0.0:1.0	.	1143	Q2M1K9	ZN423_HUMAN	L	1143;1026	ENSP00000262383:H1143L;ENSP00000442321:H1026L	.	H	-	2	0	ZNF423	48227136	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.606000	0.82863	1.901000	0.55032	0.459000	0.35465	CAC		0.672	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		35	181	0	0	0	0	35	181				
HP	3240	broad.mit.edu	37	16	72094424	72094424	+	Silent	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr16:72094424C>A	ENST00000355906.5	+	7	914	c.856C>A	c.(856-858)Cga>Aga	p.R286R	HP_ENST00000562526.1_Intron|HPR_ENST00000356967.5_Intron|HP_ENST00000357763.4_Silent_p.R322R|HP_ENST00000570083.1_Silent_p.R227R|HPR_ENST00000561690.1_5'Flank|HP_ENST00000565574.1_Silent_p.R227R|HPR_ENST00000540303.2_5'Flank|HP_ENST00000398131.2_Silent_p.R227R	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN	haptoglobin	286	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)		TGGCTGGGGGCGAAATGCCAA	0.468																																						uc002fbr.3		NA																	0					0						c.(856-858)CGA>AGA		haptoglobin isoform 1 preproprotein							88.0	91.0	90.0					16																	72094424		1972	4160	6132	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.chr16:72094424C>A		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.856C>A	16.37:g.72094424C>A						TXNL4B_uc010cgl.2_Intron|HP_uc010cgm.2_Silent_p.R227R|HP_uc002fbt.3_Silent_p.R227R|HP_uc002fbu.1_Silent_p.R24R|HP_uc002fbv.3_Silent_p.R197R|HP_uc002fbw.3_Silent_p.R108R|HP_uc002fbx.3_Silent_p.R108R|HPR_uc002fby.2_5'Flank	p.R286R	NM_005143	NP_005134	P00738	HPT_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)	7	900	+		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)	286			Peptidase S1.		B0AZL5|P00737|Q0VAC4|Q0VAC5|Q2PP15|Q3B7J0|Q6LBY9|Q9UC67	Silent	SNP	ENST00000355906.5	37	c.856C>A	CCDS45524.1																																																																																				0.468	HP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421680.1	NM_005143		39	33	1	0	6.29e-14	8.33e-14	39	33				
ZNF778	197320	broad.mit.edu	37	16	89294059	89294059	+	Missense_Mutation	SNP	G	G	T	rs181755745		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr16:89294059G>T	ENST00000433976.2	+	6	1611	c.1279G>T	c.(1279-1281)Ggg>Tgg	p.G427W	RP11-46C24.6_ENST00000563182.1_RNA|ZNF778_ENST00000306502.6_Missense_Mutation_p.G385W	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	427					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(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		TAAGGACTGCGGGAAAGCCTT	0.502																																						uc002fmv.2		NA																	0					0						c.(1279-1281)GGG>TGG		zinc finger protein 778							105.0	110.0	108.0					16																	89294059		2186	4293	6479	SO:0001583	missense	197320				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89294059G>T	AK056437	CCDS45550.1, CCDS73928.1	16q24.3	2014-09-17			ENSG00000170100	ENSG00000170100		"""Zinc fingers, C2H2-type"", ""-"""	26479	protein-coding gene	gene with protein product							Standard	NM_182531		Approved	FLJ31875	uc021tms.1	Q96MU6		ENST00000433976.2:c.1279G>T	16.37:g.89294059G>T	ENSP00000405289:p.Gly427Trp					ZNF778_uc010vpf.1_Intron|ZNF778_uc002fmw.1_Missense_Mutation_p.G385W|ZNF778_uc010vpg.1_Missense_Mutation_p.G190W	p.G427W	NM_182531	NP_872337	Q96MU6	ZN778_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0269)	6	1618	+			427			C2H2-type 8.		Q08AG0	Missense_Mutation	SNP	ENST00000433976.2	37	c.1279G>T	CCDS45550.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.255171	0.59321	.	.	ENSG00000170100	ENST00000433976;ENST00000306502	T;T	0.07800	3.16;3.16	1.13	1.13	0.20643	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32010	0.0815	M	0.91038	3.17	0.26146	N	0.98021	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.03840	-1.0999	9	0.72032	D	0.01	.	8.1979	0.31407	0.0:0.0:1.0:0.0	.	385;427	Q96MU6-2;Q96MU6	.;ZN778_HUMAN	W	427;385	ENSP00000405289:G427W;ENSP00000305203:G385W	ENSP00000305203:G385W	G	+	1	0	ZNF778	87821560	0.997000	0.39634	0.160000	0.22671	0.520000	0.34377	2.851000	0.48302	0.927000	0.37143	0.558000	0.71614	GGG		0.502	ZNF778-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430383.1	NM_182531		21	109	1	0	1.11e-09	1.39e-09	21	109				
MYBBP1A	10514	broad.mit.edu	37	17	4442815	4442815	+	Silent	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:4442815C>G	ENST00000254718.4	-	26	4188	c.3882G>C	c.(3880-3882)gcG>gcC	p.A1294A	MYBBP1A_ENST00000381556.2_Silent_p.A1294A			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	1294	Required for nuclear and nucleolar localization. {ECO:0000250}.				cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						TCCGTGCCAGCGCGGACAGTG	0.582																																						uc002fyb.3		NA																	0				ovary(1)|skin(1)	2						c.(3880-3882)GCG>GCC		MYB binding protein 1a isoform 2							169.0	168.0	169.0					17																	4442815		2203	4300	6503	SO:0001819	synonymous_variant	10514				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding	g.chr17:4442815C>G	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"""p53-activated protein-2"""	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.3882G>C	17.37:g.4442815C>G						MYBBP1A_uc002fxz.3_Silent_p.A1294A|SPNS2_uc002fxx.2_3'UTR|SPNS2_uc002fxy.2_3'UTR|MYBBP1A_uc002fya.3_Silent_p.A239A|MYBBP1A_uc010vsa.1_Silent_p.A336A	p.A1294A	NM_014520	NP_055335	Q9BQG0	MBB1A_HUMAN			26	3944	-			1294			Required for nuclear and nucleolar localization (By similarity).		Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Silent	SNP	ENST00000254718.4	37	c.3882G>C	CCDS11046.1																																																																																				0.582	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520		92	398	0	0	0	0	92	398				
ZMYND15	84225	broad.mit.edu	37	17	4646665	4646665	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:4646665G>C	ENST00000433935.1	+	6	1269	c.1212G>C	c.(1210-1212)tgG>tgC	p.W404C	ZMYND15_ENST00000592813.1_Missense_Mutation_p.W404C|ZMYND15_ENST00000573751.2_Missense_Mutation_p.W404C|ZMYND15_ENST00000269289.6_Missense_Mutation_p.W404C	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	404					negative regulation of transcription, DNA-templated (GO:0045892)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						GTGGCTATTGGACCCAGCTCA	0.612																																						uc002fyt.2		NA																	0					0						c.(1210-1212)TGG>TGC		zinc finger, MYND-type containing 15 isoform 2							128.0	135.0	133.0					17																	4646665		2203	4300	6503	SO:0001583	missense	84225						zinc ion binding	g.chr17:4646665G>C	AL136893	CCDS11053.1, CCDS45584.1, CCDS58506.1	17p13.3	2008-05-02			ENSG00000141497	ENSG00000141497		"""Zinc fingers, MYND-type"""	20997	protein-coding gene	gene with protein product		614312				11230166	Standard	NM_001136046		Approved	DKFZp434N127	uc002fyu.3	Q9H091	OTTHUMG00000090760	ENST00000433935.1:c.1212G>C	17.37:g.4646665G>C	ENSP00000391742:p.Trp404Cys					ZMYND15_uc002fyv.2_Missense_Mutation_p.W404C|ZMYND15_uc002fyu.2_Missense_Mutation_p.W404C	p.W404C	NM_032265	NP_115641	Q9H091	ZMY15_HUMAN			6	1251	+			404					B4DXY5|I3L296	Missense_Mutation	SNP	ENST00000433935.1	37	c.1212G>C	CCDS45584.1	.	.	.	.	.	.	.	.	.	.	G	18.33	3.601369	0.66445	.	.	ENSG00000141497	ENST00000433935;ENST00000269289	T;T	0.68331	0.06;-0.32	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000019	T	0.80226	0.4584	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.99	T	0.80754	-0.1241	10	0.87932	D	0	-13.2411	17.8375	0.88704	0.0:0.0:1.0:0.0	.	404;404	B4DXY5;Q9H091	.;ZMY15_HUMAN	C	404	ENSP00000391742:W404C;ENSP00000269289:W404C	ENSP00000269289:W404C	W	+	3	0	ZMYND15	4593414	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.076000	0.71267	2.802000	0.96397	0.563000	0.77884	TGG		0.612	ZMYND15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439580.1	NM_032265		139	270	0	0	0	0	139	270				
TP53	7157	broad.mit.edu	37	17	7577046	7577046	+	Nonsense_Mutation	SNP	C	C	A	rs201744589		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:7577046C>A	ENST00000269305.4	-	8	1081	c.892G>T	c.(892-894)Gag>Tag	p.E298*	TP53_ENST00000445888.2_Nonsense_Mutation_p.E298*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Nonsense_Mutation_p.E298*|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Nonsense_Mutation_p.E298*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E298*	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	298	Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (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.E298*(49)|p.0?(8)|p.?(2)|p.E298K(1)|p.L299fs*2(1)|p.L265_K305del41(1)|p.E298fs*53(1)|p.G293fs*1(1)|p.E298Q(1)|p.E298_P301delELPP(1)|p.H296_S303delHHELPPGS(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)	GGGGGCAGCTCGTGGTGAGGC	0.567		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		67	Substitution - Nonsense(49)|Whole gene deletion(8)|Deletion - In frame(3)|Unknown(2)|Deletion - Frameshift(2)|Substitution - Missense(2)|Insertion - Frameshift(1)	p.E298*(35)|p.0?(7)|p.E298K(2)|p.?(2)|p.E298V(2)|p.L299fs*2(1)|p.L265_K305del41(1)|p.E298A(1)|p.E298fs*53(1)|p.G293fs*1(1)|p.E298fs*47(1)|p.E298E(1)|p.E298Q(1)|p.E298_P301delELPP(1)|p.H296_S303delHHELPPGS(1)	lung(21)|upper_aerodigestive_tract(13)|breast(6)|bone(5)|haematopoietic_and_lymphoid_tissue(4)|urinary_tract(4)|central_nervous_system(2)|oesophagus(2)|ovary(2)|pancreas(2)|liver(2)|large_intestine(1)|stomach(1)|salivary_gland(1)|skin(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	CM031387	TP53	M		c.(892-894)GAG>TAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							110.0	96.0	101.0					17																	7577046		2203	4300	6503	SO:0001587	stop_gained	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.chr17:7577046C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.892G>T	17.37:g.7577046C>A	ENSP00000269305:p.Glu298*	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_Nonsense_Mutation_p.E298*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.E166*|TP53_uc010cng.1_Nonsense_Mutation_p.E166*|TP53_uc002gii.1_Nonsense_Mutation_p.E166*|TP53_uc010cnh.1_Nonsense_Mutation_p.E298*|TP53_uc010cni.1_Nonsense_Mutation_p.E298*|TP53_uc002gij.2_Nonsense_Mutation_p.E298*	p.E298*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1086	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	298		E -> V (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> A (in a sporadic cancer; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).	Interaction with HIPK1 (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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.892G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.603544	0.66445	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.26	-4.03	0.04021	.	0.553557	0.18174	N	0.149346	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-12.8318	5.9489	0.19234	0.0:0.2155:0.4162:0.3682	.	.	.	.	X	298;298;298;298;298;287;166	.	ENSP00000269305:E298X	E	-	1	0	TP53	7517771	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.837000	0.04377	-0.441000	0.07201	-0.218000	0.12543	GAG		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		97	62	1	0	2.29e-32	3.38e-32	97	62				
MYH13	8735	broad.mit.edu	37	17	10267796	10267796	+	Missense_Mutation	SNP	G	G	A	rs369838383		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:10267796G>A	ENST00000418404.3	-	2	215	c.52C>T	c.(52-54)Cgg>Tgg	p.R18W	MYH13_ENST00000252172.4_Missense_Mutation_p.R18W			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	18					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.R18R(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCTGGTTTCCGGAGGTAGGGA	0.493																																						uc002gmk.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|skin(2)	6						c.(52-54)CGG>TGG		myosin, heavy polypeptide 13, skeletal muscle		G	TRP/ARG	0,3852		0,0,1926	83.0	77.0	79.0		52	3.7	1.0	17		79	2,8270		0,2,4134	no	missense	MYH13	NM_003802.2	101	0,2,6060	AA,AG,GG		0.0242,0.0,0.0165	probably-damaging	18/1939	10267796	2,12122	1926	4136	6062	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10267796G>A	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.52C>T	17.37:g.10267796G>A	ENSP00000404570:p.Arg18Trp						p.R18W	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			3	142	-			18			Myosin head-like.		O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.52C>T	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.870651	0.72065	0.0	2.42E-4	ENSG00000006788	ENST00000252172	D	0.87334	-2.24	4.69	3.71	0.42584	.	.	.	.	.	D	0.95127	0.8421	H	0.95079	3.62	0.39417	D	0.966853	D	0.89917	1.0	D	0.91635	0.999	D	0.96775	0.9571	9	0.87932	D	0	.	13.8992	0.63792	0.0:0.0:0.7258:0.2742	.	18	Q9UKX3	MYH13_HUMAN	W	18	ENSP00000252172:R18W	ENSP00000252172:R18W	R	-	1	2	MYH13	10208521	0.971000	0.33674	1.000000	0.80357	0.998000	0.95712	1.610000	0.36869	1.302000	0.44855	0.655000	0.94253	CGG		0.493	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		16	13	0	0	0	0	16	13				
MYH3	4621	broad.mit.edu	37	17	10545739	10545739	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:10545739G>A	ENST00000583535.1	-	16	1970	c.1883C>T	c.(1882-1884)gCg>gTg	p.A628V	MYH3_ENST00000226209.7_Missense_Mutation_p.A628V	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	628	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CTTACCATCCGCCGTGGCAAA	0.507																																						uc002gmq.1		NA																	0				ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(1882-1884)GCG>GTG		myosin, heavy chain 3, skeletal muscle,							110.0	106.0	107.0					17																	10545739		2203	4300	6503	SO:0001583	missense	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10545739G>A		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.1883C>T	17.37:g.10545739G>A	ENSP00000464317:p.Ala628Val						p.A628V	NM_002470	NP_002461	P11055	MYH3_HUMAN			15	1960	-			628			Myosin head-like.		Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	c.1883C>T	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.623042	0.46840	.	.	ENSG00000109063	ENST00000226209	D	0.87729	-2.29	4.87	3.9	0.45041	Myosin head, motor domain (2);	.	.	.	.	T	0.81384	0.4811	L	0.46741	1.465	0.09310	N	1	B	0.13145	0.007	B	0.16289	0.015	T	0.68530	-0.5384	9	0.49607	T	0.09	.	6.2007	0.20575	0.0923:0.0:0.588:0.3197	.	628	P11055	MYH3_HUMAN	V	628	ENSP00000226209:A628V	ENSP00000226209:A628V	A	-	2	0	MYH3	10486464	0.046000	0.20272	0.025000	0.17156	0.365000	0.29674	1.563000	0.36364	2.691000	0.91804	0.655000	0.94253	GCG		0.507	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		16	102	0	0	0	0	16	102				
DNAH9	1770	broad.mit.edu	37	17	11543689	11543689	+	Missense_Mutation	SNP	G	G	C	rs111906560	byFrequency	TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:11543689G>C	ENST00000262442.4	+	10	1957	c.1889G>C	c.(1888-1890)cGc>cCc	p.R630P	DNAH9_ENST00000454412.2_Missense_Mutation_p.R630P	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	630	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AACTTTGGACGCATCACACAC	0.557																																						uc002gne.2		NA																	0				skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(1888-1890)CGC>CCC		dynein, axonemal, heavy chain 9 isoform 2							112.0	98.0	103.0					17																	11543689		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11543689G>C	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.1889G>C	17.37:g.11543689G>C	ENSP00000262442:p.Arg630Pro						p.R630P	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	10	1957	+		Breast(5;0.0122)|all_epithelial(5;0.131)	630			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.1889G>C	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.250588	0.39797	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.55588	0.51;0.51	5.4	0.791	0.18619	Dynein heavy chain, domain-1 (1);	0.960394	0.08628	N	0.917424	T	0.37265	0.0997	L	0.29908	0.895	0.09310	N	1	B	0.27498	0.18	B	0.24394	0.053	T	0.21177	-1.0253	10	0.27082	T	0.32	.	7.9479	0.29998	0.7421:0.0:0.2579:0.0	.	630	Q9NYC9	DYH9_HUMAN	P	630	ENSP00000262442:R630P;ENSP00000414874:R630P	ENSP00000262442:R630P	R	+	2	0	DNAH9	11484414	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.600000	0.24104	-0.071000	0.12886	0.650000	0.86243	CGC		0.557	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		37	179	0	0	0	0	37	179				
ZNF18	7566	broad.mit.edu	37	17	11895761	11895761	+	Splice_Site	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:11895761C>T	ENST00000322748.3	-	4	990	c.386G>A	c.(385-387)tGg>tAg	p.W129*	ZNF18_ENST00000454073.3_Splice_Site_p.W129*|ZNF18_ENST00000580306.2_Splice_Site_p.W129*	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	129					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		TCTGCTTACCCATTGCCACAG	0.507																																						uc002gng.1		NA																	0				central_nervous_system(1)	1						c.(385-387)TGG>TAG		zinc finger protein 18							64.0	58.0	60.0					17																	11895761		2203	4300	6503	SO:0001630	splice_region_variant	7566				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:11895761C>T	X52342	CCDS32568.1	17p12	2013-01-09	2006-05-10		ENSG00000154957	ENSG00000154957		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12969	protein-coding gene	gene with protein product		194524	"""zinc finger protein 18 (KOX 11)"""			15702252	Standard	XM_005256786		Approved	ZKSCAN6, KOX11, HDSG1, Zfp535, ZNF535, ZSCAN38	uc002gng.1	P17022	OTTHUMG00000178307	ENST00000322748.3:c.387+1G>A	17.37:g.11895761C>T						ZNF18_uc002gnh.1_Nonsense_Mutation_p.W129*|ZNF18_uc002gni.1_Nonsense_Mutation_p.W129*	p.W129*	NM_144680	NP_653281	P17022	ZNF18_HUMAN		Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)	4	991	-			129					Q5QHQ3|Q8IYC4|Q8NAH6	Nonsense_Mutation	SNP	ENST00000322748.3	37	c.386G>A	CCDS32568.1	.	.	.	.	.	.	.	.	.	.	C	35	5.475774	0.96291	.	.	ENSG00000154957	ENST00000454073;ENST00000322748	.	.	.	5.39	5.39	0.77823	.	0.000000	0.44483	D	0.000446	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-13.04	14.6804	0.69012	0.0:1.0:0.0:0.0	.	.	.	.	X	129	.	ENSP00000315664:W129X	W	-	2	0	ZNF18	11836486	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	3.878000	0.56130	2.531000	0.85337	0.655000	0.94253	TGG		0.507	ZNF18-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441450.2	XM_085596	Nonsense_Mutation	44	79	0	0	0	0	44	79				
SLC5A10	125206	broad.mit.edu	37	17	18862478	18862478	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:18862478G>T	ENST00000395645.3	+	3	232	c.214G>T	c.(214-216)Ggc>Tgc	p.G72C	SLC5A10_ENST00000395642.1_Missense_Mutation_p.G16C|SLC5A10_ENST00000417251.2_Missense_Mutation_p.G72C|SLC5A10_ENST00000317977.6_Missense_Mutation_p.G16C|SLC5A10_ENST00000395643.2_Missense_Mutation_p.G72C|SLC5A10_ENST00000395647.2_Missense_Mutation_p.G72C	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	72					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						CAGCAGCGAGGGCTCTGGCCT	0.652																																						uc002guu.1		NA																	0				ovary(1)	1						c.(214-216)GGC>TGC		solute carrier family 5 (sodium/glucose							33.0	36.0	35.0					17																	18862478		2203	4300	6503	SO:0001583	missense	125206				sodium ion transport|transmembrane transport	integral to membrane	transporter activity	g.chr17:18862478G>T		CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"""Solute carriers"""	23155	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 10"""				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.214G>T	17.37:g.18862478G>T	ENSP00000379007:p.Gly72Cys					SLC5A10_uc002gur.1_Missense_Mutation_p.G16C|SLC5A10_uc002gut.1_Missense_Mutation_p.G72C|SLC5A10_uc002guv.1_Missense_Mutation_p.G72C|SLC5A10_uc010vyl.1_Missense_Mutation_p.G72C	p.G72C	NM_001042450	NP_001035915	A0PJK1	SC5AA_HUMAN			3	255	+			72			Cytoplasmic (Potential).		A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Missense_Mutation	SNP	ENST00000395645.3	37	c.214G>T	CCDS42275.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.022182	0.93462	.	.	ENSG00000154025	ENST00000317977;ENST00000395647;ENST00000395642;ENST00000417251;ENST00000395645;ENST00000395643	D;D;D;D;D;D	0.93712	-3.27;-2.62;-3.27;-2.62;-2.62;-2.49	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.98292	0.9434	H	0.98276	4.19	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.99338	1.0911	10	0.87932	D	0	.	18.8867	0.92381	0.0:0.0:1.0:0.0	.	72;72;72;72;16	B4DPI0;A0PJK1-2;A0PJK1;A0PJK1-4;A0PJK1-3	.;.;SC5AA_HUMAN;.;.	C	16;72;16;72;72;72	ENSP00000324346:G16C;ENSP00000379008:G72C;ENSP00000379004:G16C;ENSP00000401875:G72C;ENSP00000379007:G72C;ENSP00000379005:G72C	ENSP00000324346:G16C	G	+	1	0	SLC5A10	18803203	1.000000	0.71417	0.978000	0.43139	0.911000	0.54048	8.955000	0.93058	2.750000	0.94351	0.655000	0.94253	GGC		0.652	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	NM_152351		13	58	1	0	7.88e-20	1.1e-19	13	58				
EFCAB13	124989	broad.mit.edu	37	17	45419337	45419337	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:45419337C>T	ENST00000331493.2	+	6	653	c.242C>T	c.(241-243)tCa>tTa	p.S81L	ITGB3_ENST00000560629.1_3'UTR|ITGB3_ENST00000435993.2_3'UTR|EFCAB13_ENST00000520802.1_3'UTR|EFCAB13_ENST00000517484.1_Missense_Mutation_p.S81L	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	81						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)										TCTGATTTTTCAGGAGAAAAA	0.289																																						uc002iln.2		NA																	0				breast(1)|central_nervous_system(1)|skin(1)	3						c.(241-243)TCA>TTA		hypothetical protein LOC124989							39.0	41.0	40.0					17																	45419337		2201	4290	6491	SO:0001583	missense	124989						calcium ion binding	g.chr17:45419337C>T	BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"""EF-hand domain containing"""	26864	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 57"""	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.242C>T	17.37:g.45419337C>T	ENSP00000332111:p.Ser81Leu					ITGB3_uc010wkr.1_RNA|C17orf57_uc002ilm.2_Missense_Mutation_p.S81L|C17orf57_uc002ill.1_5'UTR|C17orf57_uc010daz.1_Missense_Mutation_p.S81L	p.S81L	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN			6	653	+			81					G3V128|Q49AG9	Missense_Mutation	SNP	ENST00000331493.2	37	c.242C>T	CCDS11512.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.724846	0.30593	.	.	ENSG00000178852	ENST00000331493;ENST00000517484;ENST00000344176	T;T	0.71579	-0.04;-0.58	2.36	2.36	0.29203	.	0.603821	0.12780	N	0.439768	T	0.65606	0.2707	L	0.53249	1.67	0.09310	N	1	B;B;B	0.30634	0.288;0.288;0.288	B;B;B	0.34824	0.19;0.19;0.19	T	0.62006	-0.6945	10	0.87932	D	0	-10.2033	8.3312	0.32187	0.0:1.0:0.0:0.0	.	81;81;81	Q8N7U2;Q8IY85;G3V128	.;CQ057_HUMAN;.	L	81	ENSP00000332111:S81L;ENSP00000430048:S81L	ENSP00000332111:S81L	S	+	2	0	C17orf57	42774336	0.218000	0.23608	0.096000	0.21009	0.034000	0.12701	0.930000	0.28858	1.662000	0.50781	0.591000	0.81541	TCA		0.289	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380147.4	NM_152347		15	41	0	0	0	0	15	41				
NGFR	4804	broad.mit.edu	37	17	47589374	47589374	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:47589374G>A	ENST00000172229.3	+	5	1067	c.942G>A	c.(940-942)ctG>ctA	p.L314L	RP5-1029K10.2_ENST00000514506.1_RNA|NGFR_ENST00000504201.1_Silent_p.L220L	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	314					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)					GCCAGAGCCTGCATGACCAGC	0.637																																						uc002ioz.3		NA																	0				ovary(1)|lung(1)	2						c.(940-942)CTG>CTA		nerve growth factor receptor precursor							63.0	60.0	61.0					17																	47589374		2202	4300	6502	SO:0001819	synonymous_variant	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.chr17:47589374G>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.942G>A	17.37:g.47589374G>A							p.L314L	NM_002507	NP_002498	P08138	TNR16_HUMAN			5	1067	+	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)		314			Cytoplasmic (Potential).		B2R961|B4E096	Silent	SNP	ENST00000172229.3	37	c.942G>A	CCDS11549.1																																																																																				0.637	NGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365150.1			20	27	0	0	0	0	20	27				
CA10	56934	broad.mit.edu	37	17	49713340	49713340	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:49713340A>G	ENST00000285273.4	-	8	1776	c.665T>C	c.(664-666)aTa>aCa	p.I222T	CA10_ENST00000442502.2_Missense_Mutation_p.I222T|CA10_ENST00000570565.1_Missense_Mutation_p.I147T|CA10_ENST00000571918.1_5'UTR|CA10_ENST00000451037.2_Missense_Mutation_p.I222T|CA10_ENST00000340813.6_Missense_Mutation_p.I228T	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	222					brain development (GO:0007420)			p.I222T(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	TAGTTCCTCTATATTAAGCCC	0.383																																						uc002itw.3		NA																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(664-666)ATA>ACA		carbonic anhydrase X							109.0	105.0	106.0					17																	49713340		2203	4300	6503	SO:0001583	missense	56934				brain development			g.chr17:49713340A>G	AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"""Carbonic anhydrases"""	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.665T>C	17.37:g.49713340A>G	ENSP00000285273:p.Ile222Thr					CA10_uc002itu.3_Missense_Mutation_p.I151T|CA10_uc002itv.3_Missense_Mutation_p.I228T|CA10_uc002itx.3_Missense_Mutation_p.I222T|CA10_uc002ity.3_Missense_Mutation_p.I222T|CA10_uc002itz.2_Missense_Mutation_p.I222T	p.I222T	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		7	1651	-			222					B2R7J0|B4DGL6	Missense_Mutation	SNP	ENST00000285273.4	37	c.665T>C	CCDS32684.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.003015	0.74932	.	.	ENSG00000154975	ENST00000442502;ENST00000285273;ENST00000451037;ENST00000340813	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	6.16	5.08	0.68730	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.85682	D	0.000000	T	0.64594	0.2612	L	0.58583	1.82	0.58432	D	0.999998	P;B;B	0.36483	0.555;0.412;0.364	B;B;B	0.34722	0.114;0.114;0.188	T	0.60900	-0.7171	10	0.27785	T	0.31	.	11.7442	0.51811	0.9316:0.0:0.0684:0.0	.	222;228;147	Q9NS85;Q68D28;B4DGL6	CAH10_HUMAN;.;.	T	222;222;222;228	ENSP00000390666:I222T;ENSP00000285273:I222T;ENSP00000405388:I222T;ENSP00000340363:I228T	ENSP00000285273:I222T	I	-	2	0	CA10	47068339	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.157000	0.94714	1.141000	0.42275	0.528000	0.53228	ATA		0.383	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000437480.1	NM_020178		33	109	0	0	0	0	33	109				
PSMC5	5705	broad.mit.edu	37	17	61905529	61905529	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:61905529G>T	ENST00000310144.6	+	2	364	c.56G>T	c.(55-57)gGa>gTa	p.G19V	PSMC5_ENST00000580864.1_Missense_Mutation_p.G11V|PSMC5_ENST00000375812.4_Missense_Mutation_p.G11V|FTSJ3_ENST00000580295.1_Intron|PSMC5_ENST00000581882.1_Missense_Mutation_p.G11V|FTSJ3_ENST00000427159.2_5'Flank	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5	19					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						GCAGGCAGCGGACTCCGCCAA	0.542																																						uc002jcb.2		NA																	0				large_intestine(1)	1						c.(55-57)GGA>GTA		proteasome 26S ATPase subunit 5							65.0	65.0	65.0					17																	61905529		2203	4300	6503	SO:0001583	missense	5705				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding	g.chr17:61905529G>T	L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195		ENST00000310144.6:c.56G>T	17.37:g.61905529G>T	ENSP00000310572:p.Gly19Val					FTSJ3_uc002jbz.2_5'Flank|FTSJ3_uc002jca.2_5'Flank|PSMC5_uc010ddy.2_5'UTR|PSMC5_uc010ddz.2_5'UTR|PSMC5_uc002jcc.2_Missense_Mutation_p.G11V|PSMC5_uc002jcd.2_Missense_Mutation_p.G11V	p.G19V	NM_002805	NP_002796	P62195	PRS8_HUMAN			2	97	+			19					A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	Missense_Mutation	SNP	ENST00000310144.6	37	c.56G>T	CCDS11645.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.169058	0.78339	.	.	ENSG00000087191	ENST00000310144;ENST00000375812	D;D	0.93953	-3.32;-3.32	4.97	4.97	0.65823	.	0.152657	0.64402	D	0.000014	D	0.93812	0.8021	M	0.83953	2.67	0.80722	D	1	B	0.20671	0.047	B	0.27715	0.082	D	0.92476	0.5989	10	0.72032	D	0.01	.	15.7926	0.78376	0.0:0.0:1.0:0.0	.	19	P62195	PRS8_HUMAN	V	19;11	ENSP00000310572:G19V;ENSP00000364970:G11V	ENSP00000310572:G19V	G	+	2	0	PSMC5	59259261	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.400000	0.97290	2.583000	0.87209	0.561000	0.74099	GGA		0.542	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444404.1	NM_002805		29	65	1	0	8.17e-17	1.12e-16	29	65				
SCN4A	6329	broad.mit.edu	37	17	62049720	62049720	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:62049720G>A	ENST00000435607.1	-	2	460	c.384C>T	c.(382-384)ctC>ctT	p.L128L	SCN4A_ENST00000578147.1_Silent_p.L128L|CTC-264K15.6_ENST00000577329.1_lincRNA	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	128					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATGCATGGATGAGCACCTTGA	0.612																																						uc002jds.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(382-384)CTC>CTT		voltage-gated sodium channel type 4 alpha	Lamotrigine(DB00555)						57.0	60.0	59.0					17																	62049720		2148	4258	6406	SO:0001819	synonymous_variant	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62049720G>A	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.384C>T	17.37:g.62049720G>A							p.L128L	NM_000334	NP_000325	P35499	SCN4A_HUMAN			2	461	-			128			I.		Q15478|Q16447|Q7Z6B1	Silent	SNP	ENST00000435607.1	37	c.384C>T	CCDS45761.1																																																																																				0.612	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		6	29	0	0	0	0	6	29				
SCN4A	6329	broad.mit.edu	37	17	62049989	62049989	+	Silent	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:62049989G>T	ENST00000435607.1	-	1	289	c.213C>A	c.(211-213)ccC>ccA	p.P71P	SCN4A_ENST00000578147.1_Silent_p.P71P|CTC-264K15.6_ENST00000577329.1_lincRNA	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	71					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCTCCGGCGGGGGGTCTCCGT	0.592																																						uc002jds.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(211-213)CCC>CCA		voltage-gated sodium channel type 4 alpha	Lamotrigine(DB00555)						26.0	29.0	28.0					17																	62049989		2027	4184	6211	SO:0001819	synonymous_variant	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62049989G>T	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.213C>A	17.37:g.62049989G>T							p.P71P	NM_000334	NP_000325	P35499	SCN4A_HUMAN			1	290	-			71					Q15478|Q16447|Q7Z6B1	Silent	SNP	ENST00000435607.1	37	c.213C>A	CCDS45761.1																																																																																				0.592	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		3	15	1	0	6.4e-05	7.16e-05	3	15				
LRRC37A3	374819	broad.mit.edu	37	17	62855907	62855907	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:62855907C>A	ENST00000584306.1	-	11	4887	c.4357G>T	c.(4357-4359)Gac>Tac	p.D1453Y	LRRC37A3_ENST00000339474.5_Missense_Mutation_p.D571Y|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.D1453Y|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.D491Y|LRRC37A3_ENST00000334962.5_Missense_Mutation_p.D430Y	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1453						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GGGGACAGGTCAGTGCCCACG	0.502																																						uc002jey.2		NA																	0					0						c.(4357-4359)GAC>TAC		leucine rich repeat containing 37, member A3							56.0	59.0	58.0					17																	62855907		2202	4279	6481	SO:0001583	missense	374819					integral to membrane		g.chr17:62855907C>A	AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.4357G>T	17.37:g.62855907C>A	ENSP00000464535:p.Asp1453Tyr					LRRC37A3_uc010wqg.1_Missense_Mutation_p.D571Y|LRRC37A3_uc002jex.1_Missense_Mutation_p.D430Y|LRRC37A3_uc010wqf.1_Missense_Mutation_p.D491Y|LRRC37A3_uc010dek.1_Missense_Mutation_p.D459Y	p.D1453Y	NM_199340	NP_955372	O60309	L37A3_HUMAN			11	4888	-			1453			Extracellular (Potential).		Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	ENST00000584306.1	37	c.4357G>T	CCDS32708.1	.	.	.	.	.	.	.	.	.	.	.	12.58	1.982009	0.34942	.	.	ENSG00000176809	ENST00000339474;ENST00000400877;ENST00000334962;ENST00000319651	T;T;T	0.66815	1.08;1.07;-0.23	2.57	2.57	0.30868	.	.	.	.	.	T	0.77955	0.4208	M	0.69823	2.125	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.77557	0.976;0.99	T	0.63883	-0.6536	9	0.87932	D	0	.	8.6997	0.34318	0.0:1.0:0.0:0.0	.	571;1453	B4DG20;O60309	.;L37A3_HUMAN	Y	534;491;430;1453	ENSP00000383674:D491Y;ENSP00000335617:D430Y;ENSP00000325713:D1453Y	ENSP00000325713:D1453Y	D	-	1	0	LRRC37A3	60286369	0.000000	0.05858	0.022000	0.16811	0.057000	0.15508	-0.188000	0.09642	1.452000	0.47756	0.184000	0.17185	GAC		0.502	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445377.1	NM_199340		26	125	1	0	1.14e-10	1.45e-10	26	125				
HELZ	9931	broad.mit.edu	37	17	65147297	65147297	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:65147297C>T	ENST00000358691.5	-	18	2387	c.2221G>A	c.(2221-2223)Gtg>Atg	p.V741M	HELZ_ENST00000580168.1_Missense_Mutation_p.V742M	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	741						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TACTGATGCACAACTGGGTGG	0.378																																						uc010wqk.1		NA																	0				ovary(1)|pancreas(1)	2						c.(2224-2226)GTG>ATG		helicase with zinc finger domain							134.0	131.0	132.0					17																	65147297		1904	4097	6001	SO:0001583	missense	9931							g.chr17:65147297C>T	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.2221G>A	17.37:g.65147297C>T	ENSP00000351524:p.Val741Met					HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.V741M	p.V742M	NM_014877	NP_055692					18	2411	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	c.2224G>A	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.581189	0.46006	.	.	ENSG00000198265	ENST00000358691	D	0.82167	-1.58	5.6	4.62	0.57501	.	0.057290	0.64402	D	0.000001	D	0.91613	0.7350	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.78314	0.991;0.985	D	0.92773	0.6234	10	0.87932	D	0	-11.2545	14.7642	0.69626	0.0:0.9298:0.0:0.0702	.	742;741	B7ZLW2;P42694	.;HELZ_HUMAN	M	741	ENSP00000351524:V741M	ENSP00000351524:V741M	V	-	1	0	HELZ	62577759	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.773000	0.68898	2.632000	0.89209	0.650000	0.86243	GTG		0.378	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		31	153	0	0	0	0	31	153				
SOX9	6662	broad.mit.edu	37	17	70120399	70120399	+	Silent	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:70120399C>A	ENST00000245479.2	+	3	1773	c.1401C>A	c.(1399-1401)acC>acA	p.T467T		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	467					astrocyte fate commitment (GO:0060018)|branching involved in ureteric bud morphogenesis (GO:0001658)|cAMP-mediated signaling (GO:0019933)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to heparin (GO:0071504)|cellular response to interleukin-1 (GO:0071347)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|chondrocyte hypertrophy (GO:0003415)|chromatin remodeling (GO:0006338)|cochlea morphogenesis (GO:0090103)|cytoskeleton organization (GO:0007010)|endocardial cushion morphogenesis (GO:0003203)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in prostatic bud elongation (GO:0060517)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|heart valve development (GO:0003170)|heart valve formation (GO:0003188)|heart valve morphogenesis (GO:0003179)|intestinal epithelial structure maintenance (GO:0060729)|intrahepatic bile duct development (GO:0035622)|limb bud formation (GO:0060174)|lung epithelial cell differentiation (GO:0060487)|male germ-line sex determination (GO:0019100)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of bone mineralization (GO:0030502)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune system process (GO:0002683)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of ossification (GO:0030279)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|notochord development (GO:0030903)|nucleosome assembly (GO:0006334)|oligodendrocyte differentiation (GO:0048709)|ossification (GO:0001503)|otic vesicle formation (GO:0030916)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of kidney development (GO:0090184)|positive regulation of male gonad development (GO:2000020)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein complex assembly (GO:0006461)|protein kinase B signaling (GO:0043491)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in lung morphogenesis (GO:0061046)|regulation of cell adhesion (GO:0030155)|regulation of cell cycle process (GO:0010564)|regulation of cell proliferation (GO:0042127)|regulation of cell proliferation involved in tissue homeostasis (GO:0060784)|regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000794)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|tissue homeostasis (GO:0001894)|transcription from RNA polymerase II promoter (GO:0006366)|ureter morphogenesis (GO:0072197)|ureter smooth muscle cell differentiation (GO:0072193)|ureter urothelium development (GO:0072190)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enhancer binding (GO:0035326)|enhancer sequence-specific DNA binding (GO:0001158)|pre-mRNA intronic binding (GO:0097157)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase activity (GO:0004672)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			CCACCTTCACCTACATGAACC	0.642																																					Pancreas(42;83 1041 2320 35205 39456)	uc002jiw.2		NA																	0					0						c.(1399-1401)ACC>ACA		transcription factor SOX9							124.0	120.0	122.0					17																	70120399		2203	4300	6503	SO:0001819	synonymous_variant	6662				cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr17:70120399C>A	S74506	CCDS11689.1	17q24.3	2013-10-17	2008-07-31		ENSG00000125398	ENSG00000125398		"""SRY (sex determining region Y)-boxes"""	11204	protein-coding gene	gene with protein product		608160	"""campomelic dysplasia, autosomal sex-reversal"""	CMD1, CMPD1		8348155	Standard	NM_000346		Approved	SRA1	uc002jiw.3	P48436	OTTHUMG00000166300	ENST00000245479.2:c.1401C>A	17.37:g.70120399C>A							p.T467T	NM_000346	NP_000337	P48436	SOX9_HUMAN	STAD - Stomach adenocarcinoma(260;0.119)		3	1773	+		Colorectal(1115;0.245)	467					Q53Y80	Silent	SNP	ENST00000245479.2	37	c.1401C>A	CCDS11689.1																																																																																				0.642	SOX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389032.1	NM_000346		29	135	1	0	0.000184323	0.000203949	29	135				
UBE2O	63893	broad.mit.edu	37	17	74388027	74388027	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:74388027C>G	ENST00000319380.7	-	16	3178	c.3114G>C	c.(3112-3114)aaG>aaC	p.K1038N		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	1038					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						TGACACACACCTTCCCATTGT	0.607																																						uc002jrm.3		NA																	0				breast(2)|skin(2)|lung(1)	5						c.(3112-3114)AAG>AAC		ubiquitin-conjugating enzyme E2O							40.0	37.0	38.0					17																	74388027		2203	4300	6503	SO:0001583	missense	63893						ATP binding|ubiquitin-protein ligase activity	g.chr17:74388027C>G	AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.3114G>C	17.37:g.74388027C>G	ENSP00000323687:p.Lys1038Asn					UBE2O_uc002jrl.3_Missense_Mutation_p.K642N	p.K1038N	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN			16	3179	-			1038					A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Missense_Mutation	SNP	ENST00000319380.7	37	c.3114G>C	CCDS32742.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.287242	0.59867	.	.	ENSG00000175931	ENST00000319380	T	0.37584	1.19	5.4	1.2	0.21068	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.51244	0.1663	M	0.62088	1.915	0.47123	D	0.999327	D	0.76494	0.999	D	0.87578	0.998	T	0.46219	-0.9207	10	0.87932	D	0	-25.5862	8.3359	0.32215	0.0:0.5675:0.0:0.4325	.	1038	Q9C0C9	UBE2O_HUMAN	N	1038	ENSP00000323687:K1038N	ENSP00000323687:K1038N	K	-	3	2	UBE2O	71899622	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	0.933000	0.28897	0.008000	0.14787	0.563000	0.77884	AAG		0.607	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1	NM_022066		8	27	0	0	0	0	8	27				
TBC1D16	125058	broad.mit.edu	37	17	77914883	77914883	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:77914883G>A	ENST00000310924.2	-	12	2194	c.2079C>T	c.(2077-2079)ttC>ttT	p.F693F	TBC1D16_ENST00000576768.1_Silent_p.F318F|TBC1D16_ENST00000340848.7_Silent_p.F331F	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	693							Rab GTPase activator activity (GO:0005097)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			GCAGGAGGCGGAACTGGTACA	0.677																																					Ovarian(14;397 562 4850 31922 49378)	uc002jxj.2		NA																	0					0						c.(2077-2079)TTC>TTT		TBC1 domain family, member 16							20.0	18.0	19.0					17																	77914883		2187	4289	6476	SO:0001819	synonymous_variant	125058					intracellular	Rab GTPase activator activity	g.chr17:77914883G>A	AL157485	CCDS11766.1, CCDS62351.1, CCDS62352.1, CCDS62353.1	17q25.3	2013-07-10				ENSG00000167291			28356	protein-coding gene	gene with protein product						23019362	Standard	NM_019020		Approved	MGC25062, FLJ20748	uc002jxj.4	Q8TBP0		ENST00000310924.2:c.2079C>T	17.37:g.77914883G>A						uc002jxg.1_5'Flank|TBC1D16_uc002jxh.2_Silent_p.F331F|TBC1D16_uc002jxi.2_Silent_p.F318F	p.F693F	NM_019020	NP_061893	Q8TBP0	TBC16_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)		12	2195	-	all_neural(118;0.167)		693					B9A6L7|I3L1E0|I3L4U2|Q8N3Z4|Q96DH7	Silent	SNP	ENST00000310924.2	37	c.2079C>T	CCDS11766.1																																																																																				0.677	TBC1D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437145.1	NM_019020		3	18	0	0	0	0	3	18				
TMEM105	284186	broad.mit.edu	37	17	79287662	79287662	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:79287662G>A	ENST00000332900.1	-	3	728	c.179C>T	c.(178-180)cCa>cTa	p.P60L		NM_178520.3	NP_848615.1	Q8N8V8	TM105_HUMAN	transmembrane protein 105	60						integral component of membrane (GO:0016021)				NS(1)|large_intestine(3)|lung(1)|ovary(2)	7	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892)			AGACCGAGGTGGGGACCCCTG	0.632																																						uc002kad.1		NA																	0				ovary(1)	1						c.(178-180)CCA>CTA		transmembrane protein 105							34.0	43.0	40.0					17																	79287662		2199	4298	6497	SO:0001583	missense	284186					integral to membrane		g.chr17:79287662G>A	AK096111	CCDS11781.1	17q25.3	2008-04-21	2008-04-21	2008-04-21		ENSG00000185332			26794	protein-coding gene	gene with protein product							Standard	NM_178520		Approved	FLJ38792	uc002kad.2	Q8N8V8		ENST00000332900.1:c.179C>T	17.37:g.79287662G>A	ENSP00000329795:p.Pro60Leu						p.P60L	NM_178520	NP_848615	Q8N8V8	TM105_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892)		3	729	-	all_neural(118;0.0804)|Melanoma(429;0.242)		60						Missense_Mutation	SNP	ENST00000332900.1	37	c.179C>T	CCDS11781.1	.	.	.	.	.	.	.	.	.	.	G	8.815	0.936070	0.18206	.	.	ENSG00000185332	ENST00000332900	T	0.56776	0.44	2.79	-1.08	0.09936	.	.	.	.	.	T	0.27900	0.0687	N	0.08118	0	0.09310	N	1	B	0.33044	0.395	B	0.35655	0.207	T	0.23655	-1.0182	9	0.87932	D	0	.	2.2511	0.04043	0.1273:0.425:0.2667:0.181	.	60	Q8N8V8	TM105_HUMAN	L	60	ENSP00000329795:P60L	ENSP00000329795:P60L	P	-	2	0	TMEM105	76902257	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.317000	0.08060	-0.150000	0.11195	-0.397000	0.06425	CCA		0.632	TMEM105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439607.1	NM_178520		28	131	0	0	0	0	28	131				
LAMA1	284217	broad.mit.edu	37	18	6956666	6956666	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr18:6956666C>A	ENST00000389658.3	-	56	8156	c.8063G>T	c.(8062-8064)aGc>aTc	p.S2688I	RP11-781P6.1_ENST00000584722.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2688					axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CAAGAGCTTGCTGTCCTCTGC	0.552																																						uc002knm.2		NA																	0				ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(8062-8064)AGC>ATC		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						67.0	70.0	69.0					18																	6956666		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6956666C>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.8063G>T	18.37:g.6956666C>A	ENSP00000374309:p.Ser2688Ile					LAMA1_uc002knk.2_5'Flank|LAMA1_uc002knl.2_Missense_Mutation_p.S141I|LAMA1_uc010wzj.1_Missense_Mutation_p.S2164I	p.S2688I	NM_005559	NP_005550	P25391	LAMA1_HUMAN			56	8157	-		Colorectal(10;0.172)	2688						Missense_Mutation	SNP	ENST00000389658.3	37	c.8063G>T	CCDS32787.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.41|10.41	1.343842|1.343842	0.24339|0.24339	.|.	.|.	ENSG00000101680|ENSG00000101680	ENST00000344342|ENST00000389658	.|T	.|0.19250	.|2.16	5.48|5.48	-1.78|-1.78	0.07957|0.07957	.|.	.|1.767400	.|0.03429	.|N	.|0.207460	.|T	.|0.14270	.|0.0345	L|L	0.34521|0.34521	1.04|1.04	0.09310|0.09310	N|N	1|1	.|B	.|0.11235	.|0.004	.|B	.|0.06405	.|0.002	.|T	.|0.28170	.|-1.0052	.|10	.|0.48119	.|T	.|0.1	.|.	0.9632|0.9632	0.01399|0.01399	0.2877:0.148:0.3385:0.2258|0.2877:0.148:0.3385:0.2258	.|.	.|2688	.|P25391	.|LAMA1_HUMAN	.|I	-1|2688	.|ENSP00000374309:S2688I	.|ENSP00000374309:S2688I	.|S	-|-	.|2	.|0	LAMA1|LAMA1	6946666|6946666	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.029000|0.029000	0.11900|0.11900	-0.242000|-0.242000	0.08928|0.08928	-0.192000|-0.192000	0.10432|0.10432	0.655000|0.655000	0.94253|0.94253	.|AGC		0.552	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		23	170	1	0	1.23e-08	1.5e-08	23	170				
LAMA1	284217	broad.mit.edu	37	18	7038870	7038870	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr18:7038870G>C	ENST00000389658.3	-	11	1595	c.1502C>G	c.(1501-1503)tCc>tGc	p.S501C		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	501	Laminin EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GAAGCACTCGGAGCAGCCCCG	0.537																																						uc002knm.2		NA																	0				ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(1501-1503)TCC>TGC		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						88.0	104.0	99.0					18																	7038870		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7038870G>C	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.1502C>G	18.37:g.7038870G>C	ENSP00000374309:p.Ser501Cys					LAMA1_uc010wzj.1_5'UTR	p.S501C	NM_005559	NP_005550	P25391	LAMA1_HUMAN			11	1596	-		Colorectal(10;0.172)	501			Laminin EGF-like 4.			Missense_Mutation	SNP	ENST00000389658.3	37	c.1502C>G	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.048079	0.75846	.	.	ENSG00000101680	ENST00000389658	T	0.18502	2.21	4.88	4.88	0.63580	EGF-like, laminin (2);	0.256146	0.36893	N	0.002352	T	0.37019	0.0988	M	0.86028	2.79	0.37403	D	0.912921	D	0.61697	0.99	P	0.49683	0.619	T	0.53830	-0.8383	10	0.66056	D	0.02	.	18.5984	0.91239	0.0:0.0:1.0:0.0	.	501	P25391	LAMA1_HUMAN	C	501	ENSP00000374309:S501C	ENSP00000374309:S501C	S	-	2	0	LAMA1	7028870	1.000000	0.71417	0.921000	0.36526	0.821000	0.46438	4.400000	0.59709	2.694000	0.91930	0.655000	0.94253	TCC		0.537	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		105	365	0	0	0	0	105	365				
CDH20	28316	broad.mit.edu	37	18	59221456	59221456	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr18:59221456A>C	ENST00000262717.4	+	12	2332	c.1934A>C	c.(1933-1935)cAc>cCc	p.H645P	CDH20_ENST00000536675.2_Missense_Mutation_p.H645P|CDH20_ENST00000538374.1_Missense_Mutation_p.H645P			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	645					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				ATGAGGCGGCACCGGAAACAA	0.557																																						uc010dps.1		NA																	0				breast(3)|ovary(1)|pancreas(1)	5						c.(1933-1935)CAC>CCC		cadherin 20, type 2 preproprotein							102.0	90.0	94.0					18																	59221456		2203	4300	6503	SO:0001583	missense	28316				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:59221456A>C	AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"""Cadherins / Major cadherins"""	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.1934A>C	18.37:g.59221456A>C	ENSP00000262717:p.His645Pro					CDH20_uc002lif.2_Missense_Mutation_p.H639P	p.H645P	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN			11	1946	+		Colorectal(73;0.186)	645			Cytoplasmic (Potential).		Q495S3	Missense_Mutation	SNP	ENST00000262717.4	37	c.1934A>C	CCDS11977.1	.	.	.	.	.	.	.	.	.	.	A	13.42	2.230473	0.39399	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.72615	-0.67;-0.67;-0.67	4.86	4.86	0.63082	Cadherin, cytoplasmic domain (1);	0.096044	0.64402	D	0.000001	T	0.74680	0.3748	M	0.64404	1.975	0.46874	D	0.999233	B	0.27416	0.178	B	0.40038	0.317	T	0.76534	-0.2924	10	0.72032	D	0.01	.	14.9196	0.70826	1.0:0.0:0.0:0.0	.	645	Q9HBT6	CAD20_HUMAN	P	645	ENSP00000444767:H645P;ENSP00000442226:H645P;ENSP00000262717:H645P	ENSP00000262717:H645P	H	+	2	0	CDH20	57372436	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	5.140000	0.64807	2.180000	0.69256	0.533000	0.62120	CAC		0.557	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891		52	53	0	0	0	0	52	53				
SERPINB2	5055	broad.mit.edu	37	18	61569789	61569789	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr18:61569789C>A	ENST00000299502.4	+	7	910	c.830C>A	c.(829-831)aCt>aAt	p.T277N	SERPINB2_ENST00000457692.1_Missense_Mutation_p.T277N	NM_002575.2	NP_002566.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	277					blood coagulation (GO:0007596)|fibrinolysis (GO:0042730)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Tenecteplase(DB00031)|Urokinase(DB00013)	GATGTGTCCACTGGCTTGGAG	0.418																																						uc010xeu.1		NA																	0				lung(1)|skin(1)	2						c.(829-831)ACT>AAT		serine (or cysteine) proteinase inhibitor, clade	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)						149.0	135.0	140.0					18																	61569789		2203	4300	6503	SO:0001583	missense	5055				anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr18:61569789C>A	Y00630	CCDS11989.1	18q21.3	2014-02-18	2005-08-18		ENSG00000197632	ENSG00000197632		"""Serine (or cysteine) peptidase inhibitors"""	8584	protein-coding gene	gene with protein product		173390	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 2"""	PLANH2, PAI2		24172014	Standard	NM_002575		Approved	HsT1201	uc002ljo.3	P05120	OTTHUMG00000060592	ENST00000299502.4:c.830C>A	18.37:g.61569789C>A	ENSP00000299502:p.Thr277Asn					SERPINB2_uc002ljo.2_Missense_Mutation_p.T277N|SERPINB2_uc010dqh.2_Missense_Mutation_p.T207N|SERPINB2_uc002ljp.1_Missense_Mutation_p.T82N|SERPINB2_uc002ljq.1_Missense_Mutation_p.T82N	p.T277N	NM_001143818	NP_001137290	P05120	PAI2_HUMAN			8	1163	+		Esophageal squamous(42;0.131)	277					Q96E96	Missense_Mutation	SNP	ENST00000299502.4	37	c.830C>A	CCDS11989.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.44|16.44	3.122755|3.122755	0.56613|0.56613	.|.	.|.	ENSG00000242550|ENSG00000197632	ENST00000397996;ENST00000418725|ENST00000299502;ENST00000457692	.|D;D	.|0.84298	.|-1.83;-1.83	5.27|5.27	5.27|5.27	0.74061|0.74061	.|Serpin domain (3);	.|0.048615	.|0.85682	.|D	.|0.000000	D|D	0.88934|0.88934	0.6572|0.6572	L|L	0.49126|0.49126	1.545|1.545	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.87578	.|0.99;0.998	D|D	0.87573|0.87573	0.2479|0.2479	5|10	.|0.41790	.|T	.|0.15	.|.	11.3375|11.3375	0.49513|0.49513	0.0:0.9155:0.0:0.0845|0.0:0.9155:0.0:0.0845	.|.	.|277;277	.|B2R7Y0;P05120	.|.;PAI2_HUMAN	Q|N	153|277	.|ENSP00000299502:T277N;ENSP00000401645:T277N	.|ENSP00000299502:T277N	H|T	+|+	3|2	2|0	SERPINB10|SERPINB2	59720769|59720769	0.990000|0.990000	0.36364|0.36364	0.949000|0.949000	0.38748|0.38748	0.661000|0.661000	0.39034|0.39034	3.468000|3.468000	0.53086|0.53086	2.615000|2.615000	0.88500|0.88500	0.557000|0.557000	0.71058|0.71058	CAC|ACT		0.418	SERPINB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134009.1	NM_002575		83	96	1	0	7.49e-41	1.13e-40	83	96				
CDH19	28513	broad.mit.edu	37	18	64197182	64197182	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr18:64197182G>C	ENST00000540086.1	-	9	1604	c.1358C>G	c.(1357-1359)tCg>tGg	p.S453W	CDH19_ENST00000262150.2_Missense_Mutation_p.S453W	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	561	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CAGTGGGATCGAAGAGATCTG	0.313																																						uc002lkc.1		NA																	0				ovary(1)|skin(1)	2						c.(1357-1359)TCG>TGG		cadherin 19, type 2 preproprotein							101.0	98.0	99.0					18																	64197182		2203	4300	6503	SO:0001583	missense	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64197182G>C	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.1358C>G	18.37:g.64197182G>C	ENSP00000439593:p.Ser453Trp					CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Missense_Mutation_p.S453W	p.S453W	NM_021153	NP_066976	Q9H159	CAD19_HUMAN			9	1496	-		Esophageal squamous(42;0.0132)	453			Cadherin 4.|Extracellular (Potential).		O15098	Missense_Mutation	SNP	ENST00000540086.1	37	c.1358C>G	CCDS59325.1	.	.	.	.	.	.	.	.	.	.	G	0.671	-0.801828	0.02841	.	.	ENSG00000071991	ENST00000262150;ENST00000540086	T;T	0.53206	0.63;0.63	5.53	3.54	0.40534	Cadherin (5);Cadherin-like (1);	0.820252	0.11227	N	0.586053	T	0.67135	0.2861	M	0.82630	2.6	0.09310	N	0.999998	D;D	0.71674	0.998;0.99	P;P	0.60789	0.864;0.879	T	0.56117	-0.8032	10	0.72032	D	0.01	.	10.8948	0.47017	0.0:0.0:0.3886:0.6114	.	453;453	F5H1K0;Q9H159	.;CAD19_HUMAN	W	453	ENSP00000262150:S453W;ENSP00000439593:S453W	ENSP00000262150:S453W	S	-	2	0	CDH19	62348162	0.015000	0.18098	0.002000	0.10522	0.051000	0.14879	1.913000	0.39956	0.614000	0.30107	0.650000	0.86243	TCG		0.313	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000442285.1	NM_021153		66	53	0	0	0	0	66	53				
DSEL	92126	broad.mit.edu	37	18	65181244	65181244	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr18:65181244C>G	ENST00000310045.7	-	2	2105	c.632G>C	c.(631-633)tGg>tCg	p.W211S	RP11-638L3.1_ENST00000583687.1_lincRNA|CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	201					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				AGTAATAACCCATATTTTTTC	0.383																																						uc002lke.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6						c.(631-633)TGG>TCG		dermatan sulfate epimerase-like							69.0	67.0	68.0					18																	65181244		2203	4300	6503	SO:0001583	missense	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65181244C>G	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.632G>C	18.37:g.65181244C>G	ENSP00000310565:p.Trp211Ser						p.W211S	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN			2	1856	-		Esophageal squamous(42;0.129)	201					Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	c.632G>C	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	C	9.765	1.171079	0.21621	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.47528	0.84	4.75	2.86	0.33363	.	0.240546	0.34879	U	0.003606	T	0.21468	0.0517	N	0.08118	0	0.44523	D	0.997477	B	0.06786	0.001	B	0.06405	0.002	T	0.04373	-1.0956	10	0.21540	T	0.41	.	4.6893	0.12772	0.3157:0.527:0.0:0.1573	.	201	Q8IZU8	DSEL_HUMAN	S	211;201	ENSP00000310565:W211S	ENSP00000310565:W211S	W	-	2	0	DSEL	63332224	0.997000	0.39634	0.984000	0.44739	0.994000	0.84299	1.479000	0.35453	1.079000	0.41038	0.555000	0.69702	TGG		0.383	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		41	38	0	0	0	0	41	38				
APC2	10297	broad.mit.edu	37	19	1455209	1455209	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:1455209C>G	ENST00000535453.1	+	4	2188	c.475C>G	c.(475-477)Ctg>Gtg	p.L159V	CTB-25B13.12_ENST00000588225.1_RNA|APC2_ENST00000238483.4_Missense_Mutation_p.L159V|APC2_ENST00000233607.2_Missense_Mutation_p.L159V			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTACTCTCAGCTGCAGGGCCT	0.682																																						uc002lsr.1		NA																	0				breast(3)|pancreas(1)	4						c.(475-477)CTG>GTG		adenomatosis polyposis coli 2							25.0	22.0	23.0					19																	1455209		2195	4296	6491	SO:0001583	missense	10297				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding	g.chr19:1455209C>G		CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"""Armadillo repeat containing"""	24036	protein-coding gene	gene with protein product	"""adenomatous polyposis coli like"""	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.475C>G	19.37:g.1455209C>G	ENSP00000442954:p.Leu159Val					APC2_uc002lss.1_5'UTR|APC2_uc002lst.1_Missense_Mutation_p.L159V|APC2_uc002lsu.1_Missense_Mutation_p.L159V	p.L159V	NM_005883	NP_005874	O95996	APC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	683	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	159					C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Missense_Mutation	SNP	ENST00000535453.1	37	c.475C>G	CCDS12068.1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.558573	0.27827	.	.	ENSG00000115266	ENST00000233607;ENST00000238483;ENST00000535453	D;D;D	0.84873	-1.91;-1.91;-1.91	4.46	1.12	0.20585	.	0.202505	0.32918	N	0.005497	T	0.81413	0.4817	L	0.46157	1.445	0.28915	N	0.892466	P;D	0.53745	0.953;0.962	P;P	0.51079	0.527;0.658	T	0.74853	-0.3523	10	0.66056	D	0.02	-13.709	3.61	0.08057	0.1737:0.5365:0.0:0.2897	.	159;159	O95996-3;O95996	.;APC2_HUMAN	V	159	ENSP00000233607:L159V;ENSP00000238483:L159V;ENSP00000442954:L159V	ENSP00000233607:L159V	L	+	1	2	APC2	1406209	1.000000	0.71417	0.534000	0.28014	0.445000	0.32107	2.747000	0.47475	0.031000	0.15407	0.511000	0.50034	CTG		0.682	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	NM_005883		8	14	0	0	0	0	8	14				
TICAM1	148022	broad.mit.edu	37	19	4818041	4818041	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:4818041C>T	ENST00000248244.5	-	2	578	c.349G>A	c.(349-351)Gcc>Acc	p.A117T		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	117					apoptotic signaling pathway (GO:0097190)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of protein homodimerization activity (GO:0043496)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|ripoptosome (GO:0097342)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		TCCTGGTAGGCCACGTCCCGC	0.677																																						uc002mbi.2		NA																	0				breast(1)	1						c.(349-351)GCC>ACC		toll-like receptor adaptor molecule 1							49.0	48.0	48.0					19																	4818041		2203	4300	6503	SO:0001583	missense	148022				apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity	g.chr19:4818041C>T	AB086380	CCDS12136.1	19p13.3	2014-09-17				ENSG00000127666			18348	protein-coding gene	gene with protein product		607601				12539043, 12471095	Standard	NM_182919		Approved	TRIF, TICAM-1, MGC35334, PRVTIRB	uc002mbi.4	Q8IUC6		ENST00000248244.5:c.349G>A	19.37:g.4818041C>T	ENSP00000248244:p.Ala117Thr						p.A117T	NM_182919	NP_891549	Q8IUC6	TCAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)	2	600	-			117					B3Y691|O75532|Q86XP8|Q96GA0	Missense_Mutation	SNP	ENST00000248244.5	37	c.349G>A	CCDS12136.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.946757	0.92593	.	.	ENSG00000127666	ENST00000248244	T	0.53423	0.62	4.61	4.61	0.57282	.	0.000000	0.37715	N	0.001963	T	0.65322	0.2680	M	0.64997	1.995	0.36693	D	0.879704	D	0.89917	1.0	D	0.74674	0.984	T	0.72597	-0.4245	10	0.52906	T	0.07	-27.9593	15.983	0.80127	0.0:1.0:0.0:0.0	.	117	Q8IUC6	TCAM1_HUMAN	T	117	ENSP00000248244:A117T	ENSP00000248244:A117T	A	-	1	0	TICAM1	4769041	0.995000	0.38212	0.810000	0.32431	0.002000	0.02628	3.585000	0.53943	2.266000	0.75297	0.484000	0.47621	GCC		0.677	TICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450435.1	NM_014261		17	80	0	0	0	0	17	80				
CATSPERD	257062	broad.mit.edu	37	19	5768221	5768221	+	Silent	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:5768221C>G	ENST00000381624.3	+	18	1663	c.1602C>G	c.(1600-1602)acC>acG	p.T534T	CATSPERD_ENST00000381614.2_Silent_p.T192T|CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	534					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											ACCCCTTGACCCTGCAAGACA	0.522																																						uc002mda.2		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1600-1602)ACC>ACG		transmembrane protein 146 precursor							85.0	82.0	83.0					19																	5768221		2061	4198	6259	SO:0001819	synonymous_variant	257062					integral to membrane		g.chr19:5768221C>G	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.1602C>G	19.37:g.5768221C>G						TMEM146_uc010duj.1_Silent_p.T192T	p.T534T	NM_152784	NP_689997	Q86XM0	TM146_HUMAN			18	1663	+			534			Extracellular (Potential).		Q6ZRP1	Silent	SNP	ENST00000381624.3	37	c.1602C>G	CCDS12149.2																																																																																				0.522	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		17	129	0	0	0	0	17	129				
GTF2F1	2962	broad.mit.edu	37	19	6389458	6389458	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:6389458C>A	ENST00000394456.5	-	4	787	c.323G>T	c.(322-324)aGg>aTg	p.R108M	GTF2F1_ENST00000429701.2_Missense_Mutation_p.R80M|CTB-180A7.6_ENST00000599584.1_RNA	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	108					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cell junction (GO:0030054)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIF complex (GO:0005674)	catalytic activity (GO:0003824)|DNA binding (GO:0003677)|phosphatase activator activity (GO:0019211)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						CACTTACTTCCTGCCTGATTT	0.612																																						uc002meq.2		NA																	0					0						c.(322-324)AGG>ATG		general transcription factor IIF, polypeptide 1,							74.0	71.0	72.0					19																	6389458		2203	4300	6503	SO:0001583	missense	2962				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding	g.chr19:6389458C>A		CCDS12165.1	19p13.3	2010-03-23	2002-08-29		ENSG00000125651	ENSG00000125651		"""General transcription factors"""	4652	protein-coding gene	gene with protein product		189968	"""general transcription factor IIF, polypeptide 1 (74kD subunit)"""			1734284	Standard	NM_002096		Approved	TFIIF, BTF4, RAP74, TF2F1	uc002meq.2	P35269	OTTHUMG00000168087	ENST00000394456.5:c.323G>T	19.37:g.6389458C>A	ENSP00000377969:p.Arg108Met					GTF2F1_uc010xjb.1_5'Flank|GTF2F1_uc010xjc.1_Missense_Mutation_p.R80M	p.R108M	NM_002096	NP_002087	P35269	T2FA_HUMAN			4	608	-			108					B2RCS0|Q9BWN0	Missense_Mutation	SNP	ENST00000394456.5	37	c.323G>T	CCDS12165.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.357540	0.61293	.	.	ENSG00000125651	ENST00000394456;ENST00000429701;ENST00000542045;ENST00000543921;ENST00000541263	T;T	0.48522	0.81;0.81	5.02	5.02	0.67125	Transcription Factor IIF, Rap30/Rap74, interaction (1);	0.107345	0.56097	D	0.000035	T	0.67496	0.2899	M	0.71036	2.16	0.49798	D	0.999827	D;P	0.76494	0.999;0.937	D;P	0.69479	0.964;0.874	T	0.70753	-0.4786	10	0.59425	D	0.04	.	17.1178	0.86694	0.0:1.0:0.0:0.0	.	80;108	E7EUG6;P35269	.;T2FA_HUMAN	M	108;80;168;81;108	ENSP00000377969:R108M;ENSP00000392107:R80M	ENSP00000377969:R108M	R	-	2	0	GTF2F1	6340458	0.987000	0.35691	0.865000	0.33974	0.495000	0.33615	3.302000	0.51849	2.343000	0.79666	0.655000	0.94253	AGG		0.612	GTF2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398033.1	NM_002096		85	119	1	0	4.87e-31	7.17e-31	85	119				
SLC25A41	284427	broad.mit.edu	37	19	6430127	6430127	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:6430127G>C	ENST00000321510.6	-	3	477	c.409C>G	c.(409-411)Cag>Gag	p.Q137E		NM_173637.3	NP_775908.2			solute carrier family 25, member 41											large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	6						ACCATGCTCTGTAGCCCCCCC	0.617																																						uc010dus.2		NA																	0					0						c.(409-411)CAG>GAG		solute carrier family 25, member 41							35.0	39.0	38.0					19																	6430127		2020	4196	6216	SO:0001583	missense	284427				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr19:6430127G>C	AK097761	CCDS45937.1	19p13.3	2013-05-22			ENSG00000181240	ENSG00000181240		"""Solute carriers"""	28533	protein-coding gene	gene with protein product		610822				16949250	Standard	NM_173637		Approved	FLJ40442, MGC34725, APC4	uc010dus.3	Q8N5S1		ENST00000321510.6:c.409C>G	19.37:g.6430127G>C	ENSP00000322649:p.Gln137Glu					SLC25A41_uc010dut.2_5'UTR	p.Q137E	NM_173637	NP_775908	Q8N5S1	S2541_HUMAN			3	495	-			137			Solcar 1.			Missense_Mutation	SNP	ENST00000321510.6	37	c.409C>G	CCDS45937.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	32|32	5.131598|5.131598	0.94473|0.94473	.|.	.|.	ENSG00000181240|ENSG00000181240	ENST00000321510|ENST00000458275	T|.	0.78595|.	-1.19|.	4.31|4.31	4.31|4.31	0.51392|0.51392	Mitochondrial carrier domain (2);|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.59101|.	0.2169|.	L|L	0.41356|0.41356	1.27|1.27	0.58432|0.58432	A|A	0.999999|0.999999	B|.	0.10296|.	0.003|.	B|.	0.16722|.	0.016|.	T|.	0.64597|.	-0.6370|.	8|.	0.40728|0.32370	T|T	0.16|0.25	-18.644|-18.644	15.6935|15.6935	0.77473|0.77473	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	137|.	Q8N5S1|.	S2541_HUMAN|.	E|X	137|169	ENSP00000322649:Q137E|.	ENSP00000322649:Q137E|ENSP00000405411:Y169X	Q|Y	-|-	1|3	0|2	SLC25A41|SLC25A41	6381127|6381127	0.000000|0.000000	0.05858|0.05858	0.692000|0.692000	0.30179|0.30179	0.784000|0.784000	0.44337|0.44337	0.644000|0.644000	0.24766|0.24766	2.229000|2.229000	0.72834|0.72834	0.471000|0.471000	0.43371|0.43371	CAG|TAC		0.617	SLC25A41-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462222.1	NM_173637		15	16	0	0	0	0	15	16				
C3	718	broad.mit.edu	37	19	6686812	6686812	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:6686812G>A	ENST00000245907.6	-	28	3683	c.3591C>T	c.(3589-3591)gcC>gcT	p.A1197A		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1197					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	TGCCCATCTGGGCCAGAGCAT	0.542																																						uc002mfm.2		NA																	0				skin(3)|ovary(1)|pancreas(1)	5						c.(3589-3591)GCC>GCT		complement component 3 precursor							157.0	146.0	149.0					19																	6686812		2203	4300	6503	SO:0001819	synonymous_variant	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6686812G>A	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.3591C>T	19.37:g.6686812G>A						C3_uc002mfl.2_5'UTR	p.A1197A	NM_000064	NP_000055	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	28	3653	-			1197					A7E236	Silent	SNP	ENST00000245907.6	37	c.3591C>T	CCDS32883.1																																																																																				0.542	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		132	196	0	0	0	0	132	196				
C3	718	broad.mit.edu	37	19	6707204	6707204	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:6707204G>C	ENST00000245907.6	-	17	2220	c.2128C>G	c.(2128-2130)Cgg>Ggg	p.R710G		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	710	Anaphylatoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00022}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	AAACGGGTCCGGCGCTGGCAC	0.657																																						uc002mfm.2		NA																	0				skin(3)|ovary(1)|pancreas(1)	5						c.(2128-2130)CGG>GGG		complement component 3 precursor							40.0	37.0	38.0					19																	6707204		2201	4295	6496	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6707204G>C	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2128C>G	19.37:g.6707204G>C	ENSP00000245907:p.Arg710Gly						p.R710G	NM_000064	NP_000055	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	17	2190	-			710			Anaphylatoxin-like.		A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.2128C>G	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.435767	0.62955	.	.	ENSG00000125730	ENST00000245907	T	0.39406	1.08	4.85	-7.0	0.01599	Complement C3a/C4a/C5a anaphylatoxin (1);Anaphylatoxin (2);Anaphylatoxin/fibulin (4);	0.000000	0.85682	D	0.000000	T	0.71065	0.3296	M	0.94063	3.49	0.34766	D	0.733202	D	0.89917	1.0	D	0.91635	0.999	T	0.79037	-0.1967	10	0.52906	T	0.07	.	24.7372	0.99991	0.0:0.0:0.8728:0.1272	.	710	P01024	CO3_HUMAN	G	710	ENSP00000245907:R710G	ENSP00000245907:R710G	R	-	1	2	C3	6658204	0.001000	0.12720	0.010000	0.14722	0.022000	0.10575	-0.433000	0.06948	-1.348000	0.02205	-0.467000	0.05162	CGG		0.657	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		13	53	0	0	0	0	13	53				
KEAP1	9817	broad.mit.edu	37	19	10610576	10610576	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:10610576G>T	ENST00000171111.5	-	2	681	c.134C>A	c.(133-135)tCc>tAc	p.S45Y	KEAP1_ENST00000393623.2_Missense_Mutation_p.S45Y|KEAP1_ENST00000588024.1_5'Flank	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	45					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	GCCATGCTGGGAGGGCGTCAC	0.637																																						uc002moq.1		NA																	0		p.S45S(1)		lung(12)|breast(3)|ovary(1)|pancreas(1)	17						c.(133-135)TCC>TAC		kelch-like ECH-associated protein 1							132.0	105.0	114.0					19																	10610576		2203	4300	6503	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10610576G>T	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.134C>A	19.37:g.10610576G>T	ENSP00000171111:p.Ser45Tyr					KEAP1_uc002mor.1_Missense_Mutation_p.S45Y	p.S45Y	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		2	290	-			45					B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.134C>A	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.438791	0.83885	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.71817	-0.6;-0.6	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.74450	0.3718	N	0.19112	0.55	0.53688	D	0.999972	D	0.89917	1.0	D	0.85130	0.997	T	0.78494	-0.2182	10	0.66056	D	0.02	.	15.778	0.78240	0.0:0.0:1.0:0.0	.	45	Q14145	KEAP1_HUMAN	Y	45	ENSP00000171111:S45Y;ENSP00000377245:S45Y	ENSP00000171111:S45Y	S	-	2	0	KEAP1	10471576	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	6.091000	0.71406	2.335000	0.79485	0.462000	0.41574	TCC		0.637	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		39	168	1	0	7.05e-23	1e-22	39	168				
SMARCA4	6597	broad.mit.edu	37	19	11144002	11144002	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:11144002C>A	ENST00000429416.3	+	27	3864	c.3583C>A	c.(3583-3585)Cag>Aag	p.Q1195K	SMARCA4_ENST00000358026.2_Missense_Mutation_p.Q1195K|SMARCA4_ENST00000541122.2_Missense_Mutation_p.Q1195K|SMARCA4_ENST00000344626.4_Missense_Mutation_p.Q1195K|SMARCA4_ENST00000589677.1_Missense_Mutation_p.Q1195K|SMARCA4_ENST00000444061.3_Missense_Mutation_p.Q1195K|SMARCA4_ENST00000590574.1_Missense_Mutation_p.Q1195K|SMARCA4_ENST00000450717.3_Missense_Mutation_p.Q1195K|SMARCA4_ENST00000413806.3_Missense_Mutation_p.Q1195K	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1195	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCGCATCGGGCAGCAGAACGA	0.612			"""F, N, Mis"""		NSCLC																																	uc002mqf.3		NA		Rec	yes		19	19p13.2	6597	F|N|Mis	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)		lung(1)	lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67						c.(3583-3585)CAG>AAG		SWI/SNF-related matrix-associated							70.0	68.0	69.0					19																	11144002		2203	4300	6503	SO:0001583	missense	6597	Rhabdoid_Predisposition_syndrome			chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11144002C>A	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3583C>A	19.37:g.11144002C>A	ENSP00000395654:p.Gln1195Lys					SMARCA4_uc010dxp.2_Missense_Mutation_p.Q1195K|SMARCA4_uc010dxo.2_Missense_Mutation_p.Q1195K|SMARCA4_uc010dxq.2_Missense_Mutation_p.Q1195K|SMARCA4_uc010dxr.2_Missense_Mutation_p.Q1195K|SMARCA4_uc002mqj.3_Missense_Mutation_p.Q1195K|SMARCA4_uc010dxs.2_Missense_Mutation_p.Q1195K|SMARCA4_uc010dxt.1_Missense_Mutation_p.Q415K|SMARCA4_uc002mqh.3_Missense_Mutation_p.Q318K|SMARCA4_uc002mqi.1_Missense_Mutation_p.Q398K	p.Q1195K	NM_003072	NP_003063	P51532	SMCA4_HUMAN			26	3867	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1195			Helicase C-terminal.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.3583C>A	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.716668	0.89205	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63	4.74	4.74	0.60224	Helicase, C-terminal (1);	0.134298	0.51477	D	0.000091	D	0.95188	0.8440	H	0.99634	4.67	0.58432	D	0.999998	P;D;D;B;P;D;P	0.76494	0.845;0.981;0.981;0.392;0.749;0.999;0.693	P;P;P;P;B;D;P	0.65684	0.735;0.881;0.881;0.533;0.434;0.937;0.653	D	0.97526	1.0076	10	0.87932	D	0	-28.5547	16.7067	0.85374	0.0:1.0:0.0:0.0	.	1195;1195;1195;1195;1195;415;1195	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	K	1195;1195;1259;1195;1195;1195;1195;1195	ENSP00000395654:Q1195K;ENSP00000350720:Q1195K;ENSP00000343896:Q1195K;ENSP00000445036:Q1195K;ENSP00000392837:Q1195K;ENSP00000397783:Q1195K;ENSP00000414727:Q1195K	ENSP00000343896:Q1195K	Q	+	1	0	SMARCA4	11005002	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.387000	0.79785	2.488000	0.83962	0.558000	0.71614	CAG		0.612	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		27	107	1	0	6.33e-13	8.31e-13	27	107				
LPHN1	22859	broad.mit.edu	37	19	14268735	14268735	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:14268735G>A	ENST00000340736.6	-	14	2806	c.2509C>T	c.(2509-2511)Cac>Tac	p.H837Y	CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.H832Y|CTB-55O6.12_ENST00000588658.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	837	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTGGTGAGGTGGCTGCAGGCA	0.607																																						uc010xnn.1		NA																	0				ovary(2)|lung(2)|central_nervous_system(1)	5						c.(2509-2511)CAC>TAC		latrophilin 1 isoform 1 precursor							147.0	112.0	124.0					19																	14268735		2203	4300	6503	SO:0001583	missense	22859				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr19:14268735G>A	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.2509C>T	19.37:g.14268735G>A	ENSP00000340688:p.His837Tyr					LPHN1_uc010xno.1_Missense_Mutation_p.H832Y|uc002myf.2_Intron	p.H837Y	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN			14	2805	-			837			GPS.|Extracellular (Potential).		Q96IE7|Q9BU07|Q9HAR3	Missense_Mutation	SNP	ENST00000340736.6	37	c.2509C>T	CCDS32928.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.063882	0.76187	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	D;D	0.84070	-1.8;-1.8	4.87	3.84	0.44239	GPS domain (3);	0.056732	0.64402	D	0.000001	D	0.93377	0.7888	H	0.96833	3.89	0.58432	D	0.999996	D;D	0.89917	0.999;1.0	D;D	0.97110	0.999;1.0	D	0.94189	0.7439	10	0.87932	D	0	.	11.2152	0.48823	0.0913:0.0:0.9087:0.0	.	832;837	O94910-2;O94910	.;LPHN1_HUMAN	Y	837;832	ENSP00000340688:H837Y;ENSP00000355328:H832Y	ENSP00000340688:H837Y	H	-	1	0	LPHN1	14129735	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	1.182000	0.42928	0.491000	0.48974	CAC		0.607	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		29	72	0	0	0	0	29	72				
OR7A5	26659	broad.mit.edu	37	19	14938984	14938984	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:14938984G>T	ENST00000322301.3	-	2	157	c.70C>A	c.(70-72)Caa>Aaa	p.Q24K	OR7A5_ENST00000594432.1_Missense_Mutation_p.Q24K|OR7A5_ENST00000601611.1_Intron			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	24					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						AGGAAGGGTTGCAGTCCAGGT	0.473																																						uc002mzw.2		NA																	0				central_nervous_system(2)	2						c.(70-72)CAA>AAA		olfactory receptor, family 7, subfamily A,							57.0	53.0	55.0					19																	14938984		2203	4300	6503	SO:0001583	missense	26659				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14938984G>T	X64976	CCDS12318.1	19p13.1	2012-08-09	2003-12-09			ENSG00000188269		"""GPCR / Class A : Olfactory receptors"""	8368	protein-coding gene	gene with protein product			"""olfactory receptor, family 7, subfamily A, member 5 pseudogene"""				Standard	XM_006722722		Approved	HTPCR2	uc002mzw.3	Q15622		ENST00000322301.3:c.70C>A	19.37:g.14938984G>T	ENSP00000316955:p.Gln24Lys					OR7A5_uc010xoa.1_Missense_Mutation_p.Q24K	p.Q24K	NM_017506	NP_059976	Q15622	OR7A5_HUMAN			1	293	-			24			Extracellular (Potential).		B2R682|Q6IFP1|Q96R96	Missense_Mutation	SNP	ENST00000322301.3	37	c.70C>A	CCDS12318.1	.	.	.	.	.	.	.	.	.	.	g	13.92	2.379872	0.42207	.	.	ENSG00000188269	ENST00000322301	T	0.00591	6.35	3.13	3.13	0.36017	.	0.000000	0.30252	U	0.010052	T	0.01092	0.0036	M	0.74546	2.27	0.09310	N	1	B	0.31752	0.338	B	0.36030	0.216	T	0.28235	-1.0050	10	0.62326	D	0.03	.	12.25	0.54593	0.0:0.0:1.0:0.0	.	24	Q15622	OR7A5_HUMAN	K	24	ENSP00000316955:Q24K	ENSP00000316955:Q24K	Q	-	1	0	OR7A5	14799984	0.933000	0.31639	0.152000	0.22495	0.254000	0.26022	2.073000	0.41519	1.807000	0.52817	0.134000	0.15878	CAA		0.473	OR7A5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466518.1	NM_017506		43	69	1	0	7.63e-17	1.05e-16	43	69				
NOTCH3	4854	broad.mit.edu	37	19	15299972	15299972	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:15299972G>A	ENST00000263388.2	-	8	1281	c.1206C>T	c.(1204-1206)tgC>tgT	p.C402C		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	402	EGF-like 10; calcium-binding. {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)			CCAAGTGCTCGCAGGGGTTGG	0.652																																						uc002nan.2		NA																	0				lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21						c.(1204-1206)TGC>TGT		Notch homolog 3 precursor							58.0	52.0	54.0					19																	15299972		2203	4300	6503	SO:0001819	synonymous_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.chr19:15299972G>A	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.1206C>T	19.37:g.15299972G>A						NOTCH3_uc002nao.1_Silent_p.C402C	p.C402C	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)		8	1282	-			402			Extracellular (Potential).|EGF-like 10; calcium-binding (Potential).		Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	ENST00000263388.2	37	c.1206C>T	CCDS12326.1																																																																																				0.652	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		19	65	0	0	0	0	19	65				
OR10H1	26539	broad.mit.edu	37	19	15918353	15918353	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:15918353G>A	ENST00000334920.2	-	1	583	c.495C>T	c.(493-495)caC>caT	p.H165H		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						AGAAGGCGAGGTGGAAAATGG	0.607																																						uc002nbq.2		NA																	0					0						c.(493-495)CAC>CAT		olfactory receptor, family 10, subfamily H,							122.0	97.0	106.0					19																	15918353		2203	4300	6503	SO:0001819	synonymous_variant	26539				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15918353G>A	AC004510	CCDS12335.1	19p13.1	2012-08-09				ENSG00000186723		"""GPCR / Class A : Olfactory receptors"""	8172	protein-coding gene	gene with protein product							Standard	NM_013940		Approved		uc002nbq.2	Q9Y4A9		ENST00000334920.2:c.495C>T	19.37:g.15918353G>A							p.H165H	NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN			1	584	-			165			Extracellular (Potential).		Q6IFQ2|Q96R59	Silent	SNP	ENST00000334920.2	37	c.495C>T	CCDS12335.1																																																																																				0.607	OR10H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460364.1			50	73	0	0	0	0	50	73				
CYP4F2	8529	broad.mit.edu	37	19	16001226	16001226	+	Silent	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:16001226C>T	ENST00000221700.6	-	6	638	c.543G>A	c.(541-543)ctG>ctA	p.L181L	CYP4F2_ENST00000011989.7_Silent_p.L32L	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CCTCTGAGGCCAGGAGCTGCC	0.557																																						uc002nbs.1		NA																	0				ovary(1)|skin(1)	2						c.(541-543)CTG>CTA		cytochrome P450, family 4, subfamily F,							72.0	70.0	71.0					19																	16001226		2203	4300	6503	SO:0001819	synonymous_variant	8529				leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	g.chr19:16001226C>T	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"""Cytochrome P450s"""	2645	protein-coding gene	gene with protein product		604426	"""cytochrome P450, subfamily IVF, polypeptide 2"""			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.543G>A	19.37:g.16001226C>T						CYP4F2_uc010xot.1_Silent_p.L32L|CYP4F2_uc010xou.1_Silent_p.L32L	p.L181L	NM_001082	NP_001073	P78329	CP4F2_HUMAN			6	593	-			181						Silent	SNP	ENST00000221700.6	37	c.543G>A	CCDS12336.1																																																																																				0.557	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082		30	32	0	0	0	0	30	32				
CPAMD8	27151	broad.mit.edu	37	19	17040011	17040011	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:17040011T>C	ENST00000443236.1	-	24	3057	c.3026A>G	c.(3025-3027)cAg>cGg	p.Q1009R		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	962						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CTGCACATACTGGAACTCATA	0.587																																						uc002nfb.2		NA																	0				ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						c.(3025-3027)CAG>CGG		C3 and PZP-like, alpha-2-macroglobulin domain							51.0	58.0	55.0					19																	17040011		2081	4217	6298	SO:0001583	missense	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17040011T>C	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.3026A>G	19.37:g.17040011T>C	ENSP00000402505:p.Gln1009Arg						p.Q1009R	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN			24	3058	-			962					Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	c.3026A>G	CCDS42519.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.15|17.15	3.314980|3.314980	0.60524|0.60524	.|.	.|.	ENSG00000160111|ENSG00000160111	ENST00000291440|ENST00000443236	.|.	.|.	.|.	3.4|3.4	2.37|2.37	0.29283|0.29283	.|.	0.000000|.	0.64402|.	U|.	0.000020|.	T|T	0.61615|0.61615	0.2361|0.2361	M|M	0.68317|0.68317	2.08|2.08	0.80722|0.80722	D|D	1|1	D|.	0.69078|.	0.997|.	D|.	0.75484|.	0.986|.	T|T	0.55730|0.55730	-0.8095|-0.8095	9|5	0.21014|.	T|.	0.42|.	.|.	8.2439|8.2439	0.31675|0.31675	0.0:0.0987:0.0:0.9013|0.0:0.0987:0.0:0.9013	.|.	962|.	Q8IZJ3|.	CPMD8_HUMAN|.	R|G	1009|1020	.|.	ENSP00000291440:Q1009R|.	Q|S	-|-	2|1	0|0	CPAMD8|CPAMD8	16901011|16901011	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.992000|0.992000	0.81027|0.81027	4.967000|4.967000	0.63722|0.63722	0.251000|0.251000	0.21505|0.21505	0.533000|0.533000	0.62120|0.62120	CAG|AGT		0.587	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		18	60	0	0	0	0	18	60				
KIAA1683	80726	broad.mit.edu	37	19	18368706	18368706	+	Missense_Mutation	SNP	G	G	A	rs375802609		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:18368706G>A	ENST00000600328.3	-	4	3020	c.2827C>T	c.(2827-2829)Cgt>Tgt	p.R943C	PDE4C_ENST00000596647.1_5'Flank|KIAA1683_ENST00000600359.3_Missense_Mutation_p.R897C|PDE4C_ENST00000355502.3_5'Flank|KIAA1683_ENST00000392413.4_Missense_Mutation_p.R1130C			Q9H0B3	K1683_HUMAN	KIAA1683	943	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.					mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ATCCTGCGACGCGCCAGGTAG	0.672																																						uc002nin.2		NA																	0				ovary(2)	2						c.(2827-2829)CGT>TGT		KIAA1683 isoform b		G	CYS/ARG,CYS/ARG,CYS/ARG	0,4390		0,0,2195	43.0	46.0	45.0		3388,2689,2827	4.3	0.9	19		45	1,8577		0,1,4288	no	missense,missense,missense	KIAA1683	NM_001145304.1,NM_001145305.1,NM_025249.3	180,180,180	0,1,6483	AA,AG,GG		0.0117,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	1130/1368,897/1135,943/1181	18368706	1,12967	2195	4289	6484	SO:0001583	missense	80726					mitochondrion		g.chr19:18368706G>A	AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.2827C>T	19.37:g.18368706G>A	ENSP00000470780:p.Arg943Cys					PDE4C_uc002nil.3_5'Flank|KIAA1683_uc010ebn.2_Missense_Mutation_p.R1130C|KIAA1683_uc010xqe.1_Missense_Mutation_p.R897C|KIAA1683_uc010xqf.1_RNA	p.R943C	NM_025249	NP_079525	Q9H0B3	K1683_HUMAN			4	3043	-			943			IQ 2.		B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Missense_Mutation	SNP	ENST00000600328.3	37	c.2827C>T	CCDS32958.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.632054	0.67015	0.0	1.17E-4	ENSG00000130518	ENST00000392413;ENST00000359737;ENST00000427634;ENST00000392412;ENST00000411671	T;T;T	0.65732	-0.17;-0.17;-0.17	4.33	4.33	0.51752	.	0.000000	0.32987	N	0.005408	D	0.83294	0.5223	H	0.95745	3.715	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.76785	-0.2831	10	0.39692	T	0.17	-24.0318	12.332	0.55046	0.0:0.0:1.0:0.0	.	1130;943	E9PDE0;Q9H0B3	.;K1683_HUMAN	C	1130;943;897;207;557	ENSP00000376213:R1130C;ENSP00000352774:R943C;ENSP00000404501:R897C	ENSP00000352774:R943C	R	-	1	0	KIAA1683	18229706	0.981000	0.34729	0.870000	0.34147	0.075000	0.17131	4.935000	0.63498	1.971000	0.57363	0.313000	0.20887	CGT		0.672	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3			50	71	0	0	0	0	50	71				
ZNF99	7652	broad.mit.edu	37	19	22940817	22940817	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:22940817G>A	ENST00000596209.1	-	4	1984	c.1894C>T	c.(1894-1896)Cag>Tag	p.Q632*	ZNF99_ENST00000397104.3_Nonsense_Mutation_p.Q541*	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	632					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)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GTTGAGGACTGGCTAAAAGCT	0.388																																						uc010xrh.1		NA																	0				ovary(1)|skin(1)	2						c.(1621-1623)CAG>TAG		zinc finger protein 99							36.0	38.0	37.0					19																	22940817		1983	4180	6163	SO:0001587	stop_gained	7652							g.chr19:22940817G>A	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1894C>T	19.37:g.22940817G>A	ENSP00000472969:p.Gln632*						p.Q541*	NM_001080409	NP_001073878					5	1621	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Nonsense_Mutation	SNP	ENST00000596209.1	37	c.1621C>T	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	t	14.47	2.545165	0.45280	.	.	ENSG00000213973	ENST00000397104	.	.	.	1.16	-2.32	0.06745	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	0.6358	0.00802	0.1857:0.3319:0.1944:0.288	.	.	.	.	X	541	.	ENSP00000380293:Q541X	Q	-	1	0	ZNF99	22732657	0.000000	0.05858	0.002000	0.10522	0.694000	0.40290	-1.719000	0.01873	-1.155000	0.02822	0.194000	0.17425	CAG		0.388	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		38	69	0	0	0	0	38	69				
ANKRD27	84079	broad.mit.edu	37	19	33117730	33117730	+	Missense_Mutation	SNP	T	T	G	rs375809199		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:33117730T>G	ENST00000306065.4	-	16	1582	c.1424A>C	c.(1423-1425)cAg>cCg	p.Q475P		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	475					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					GAGGGATGCCTGCCCTGCAGA	0.567																																						uc002ntn.1		NA																	0				ovary(2)|skin(2)|pancreas(1)	5						c.(1423-1425)CAG>CCG		ankyrin repeat domain 27 (VPS9 domain)							70.0	56.0	60.0					19																	33117730		2203	4300	6503	SO:0001583	missense	84079				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr19:33117730T>G	AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"""Ankyrin repeat domain containing"""	25310	protein-coding gene	gene with protein product	"""Vps9 domain and ankyrin-repeat-containing protein"""					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.1424A>C	19.37:g.33117730T>G	ENSP00000304292:p.Gln475Pro						p.Q475P	NM_032139	NP_115515	Q96NW4	ANR27_HUMAN			16	1580	-	Esophageal squamous(110;0.137)		475			ANK 2.		Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Missense_Mutation	SNP	ENST00000306065.4	37	c.1424A>C	CCDS32986.1	.	.	.	.	.	.	.	.	.	.	T	18.15	3.560289	0.65538	.	.	ENSG00000105186	ENST00000306065	T	0.67698	-0.28	5.36	5.36	0.76844	Ankyrin repeat-containing domain (4);	0.296884	0.24328	N	0.039488	T	0.78648	0.4316	L	0.57130	1.785	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	T	0.80504	-0.1353	10	0.66056	D	0.02	-22.8664	15.3358	0.74250	0.0:0.0:0.0:1.0	.	475	Q96NW4	ANR27_HUMAN	P	475	ENSP00000304292:Q475P	ENSP00000304292:Q475P	Q	-	2	0	ANKRD27	37809570	1.000000	0.71417	1.000000	0.80357	0.414000	0.31173	7.134000	0.77268	2.027000	0.59764	0.491000	0.48974	CAG		0.567	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		9	14	0	0	0	0	9	14				
NPHS1	4868	broad.mit.edu	37	19	36321757	36321757	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:36321757C>T	ENST00000378910.5	-	28	3582	c.3583G>A	c.(3583-3585)Gaa>Aaa	p.E1195K	NPHS1_ENST00000353632.6_Missense_Mutation_p.E1155K	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	1195	Binds to NPHS2.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ATCTGCACTTCATCGTAGAGG	0.527																																						uc002oby.2		NA																	0				ovary(4)|skin(1)	5						c.(3583-3585)GAA>AAA		nephrin precursor							99.0	100.0	99.0					19																	36321757		2203	4300	6503	SO:0001583	missense	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36321757C>T		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.3583G>A	19.37:g.36321757C>T	ENSP00000368190:p.Glu1195Lys						p.E1195K	NM_004646	NP_004637	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		28	3583	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		1195			Binds to NPHS2.|Cytoplasmic (Potential).		A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	c.3583G>A	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.325850	0.41197	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	T;T	0.77877	-0.97;-1.13	5.16	4.13	0.48395	.	0.484835	0.21743	N	0.069799	T	0.64735	0.2625	L	0.27053	0.805	0.24814	N	0.992625	B	0.09022	0.002	B	0.06405	0.002	T	0.58561	-0.7615	10	0.56958	D	0.05	-9.0704	9.6377	0.39819	0.0:0.9067:0.0:0.0933	.	1195	O60500	NPHN_HUMAN	K	1195;1155	ENSP00000368190:E1195K;ENSP00000343634:E1155K	ENSP00000343634:E1155K	E	-	1	0	NPHS1	41013597	0.975000	0.34042	1.000000	0.80357	0.714000	0.41099	1.943000	0.40253	1.453000	0.47775	0.644000	0.83932	GAA		0.527	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			51	187	0	0	0	0	51	187				
PLEKHG2	64857	broad.mit.edu	37	19	39915308	39915308	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:39915308C>T	ENST00000409794.3	+	19	4385	c.3535C>T	c.(3535-3537)Cct>Tct	p.P1179S	CTB-60E11.4_ENST00000601124.1_lincRNA|PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.P1120S|PLEKHG2_ENST00000425673.1_Missense_Mutation_p.P1150S	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	1179	Pro-rich.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGCGGCTGCACCTCCACTTCC	0.572																																						uc010xuz.1		NA																	0				skin(2)|pancreas(1)|breast(1)	4						c.(3535-3537)CCT>TCT		common-site lymphoma/leukemia guanine nucleotide							124.0	125.0	125.0					19																	39915308		2203	4300	6503	SO:0001583	missense	64857				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:39915308C>T	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.3535C>T	19.37:g.39915308C>T	ENSP00000386733:p.Pro1179Ser					PLEKHG2_uc010xuy.1_Missense_Mutation_p.P1120S|PLEKHG2_uc002olj.2_Intron|PLEKHG2_uc010xva.1_Missense_Mutation_p.P957S	p.P1179S	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		19	3860	+	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		1179			Pro-rich.		B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Missense_Mutation	SNP	ENST00000409794.3	37	c.3535C>T	CCDS33022.2	.	.	.	.	.	.	.	.	.	.	C	9.103	1.004625	0.19199	.	.	ENSG00000090924	ENST00000409794;ENST00000425673;ENST00000458508	T;T;T	0.70399	-0.33;-0.37;-0.48	3.9	1.67	0.24075	.	0.458483	0.16371	N	0.217316	T	0.50837	0.1639	L	0.28192	0.835	0.09310	N	0.999998	B;B;B	0.25563	0.129;0.046;0.046	B;B;B	0.23419	0.046;0.007;0.014	T	0.29792	-1.0000	9	.	.	.	.	5.614	0.17420	0.0:0.6794:0.2031:0.1175	.	1150;1179;1120	Q9H7P9-3;Q9H7P9;E7ESZ3	.;PKHG2_HUMAN;.	S	1179;1150;1120	ENSP00000386733:P1179S;ENSP00000392906:P1150S;ENSP00000408857:P1120S	.	P	+	1	0	PLEKHG2	44607148	0.000000	0.05858	0.000000	0.03702	0.078000	0.17371	-0.136000	0.10405	0.376000	0.24707	0.511000	0.50034	CCT		0.572	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835		41	233	0	0	0	0	41	233				
FCGBP	8857	broad.mit.edu	37	19	40362807	40362807	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:40362807G>T	ENST00000221347.6	-	32	15270	c.15263C>A	c.(15262-15264)gCc>gAc	p.A5088D		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5088						extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCACAGGAAGGCTTTGTCACC	0.652																																						uc002omp.3		NA																	0				ovary(4)|skin(4)|central_nervous_system(1)	9						c.(15262-15264)GCC>GAC		Fc fragment of IgG binding protein precursor							89.0	90.0	90.0					19																	40362807		2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40362807G>T	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.15263C>A	19.37:g.40362807G>T	ENSP00000221347:p.Ala5088Asp						p.A5088D	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		32	15271	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		5088					O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.15263C>A	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	g	0.903	-0.721777	0.03182	.	.	ENSG00000090920	ENST00000221347	T	0.75704	-0.96	4.92	1.47	0.22746	Uncharacterised domain, cysteine-rich (2);	0.833623	0.10459	U	0.672228	T	0.45175	0.1329	N	0.02420	-0.555	0.09310	N	1	B	0.29188	0.236	B	0.33960	0.173	T	0.43621	-0.9380	10	0.06625	T	0.88	.	7.5269	0.27660	0.0:0.1472:0.4281:0.4247	.	5088	Q9Y6R7	FCGBP_HUMAN	D	5088	ENSP00000221347:A5088D	ENSP00000221347:A5088D	A	-	2	0	FCGBP	45054647	0.000000	0.05858	0.102000	0.21198	0.259000	0.26198	-0.234000	0.09028	1.277000	0.44412	0.457000	0.33378	GCC		0.652	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		79	117	1	0	2.67e-37	4e-37	79	117				
SPTBN4	57731	broad.mit.edu	37	19	41009736	41009736	+	Splice_Site	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:41009736G>T	ENST00000352632.3	+	12	1448		c.e12-1		SPTBN4_ENST00000598249.1_Splice_Site|SPTBN4_ENST00000595535.1_Splice_Site|SPTBN4_ENST00000344104.3_Splice_Site|SPTBN4_ENST00000338932.3_Splice_Site			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4						actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CACTGCCCCAGGACAACTTTG	0.602																																						uc002ony.2		NA																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.e12-1		spectrin, beta, non-erythrocytic 4 isoform							31.0	26.0	28.0					19																	41009736		2203	4300	6503	SO:0001630	splice_region_variant	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41009736G>T	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.1363-1G>T	19.37:g.41009736G>T						SPTBN4_uc002onx.2_Splice_Site_p.D455_splice|SPTBN4_uc002onz.2_Splice_Site_p.D455_splice	p.D455_splice	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		12	1449	+								E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Splice_Site	SNP	ENST00000352632.3	37	c.1363_splice	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.092240	0.76756	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	.	.	.	3.88	3.88	0.44766	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7555	0.69560	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPTBN4	45701576	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.582000	0.98214	2.003000	0.58678	0.486000	0.48141	.		0.602	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2		Intron	8	18	1	0	0.00307968	0.00326572	8	18				
PSG8	440533	broad.mit.edu	37	19	43268276	43268276	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:43268276G>T	ENST00000306511.4	-	2	319	c.222C>A	c.(220-222)gaC>gaA	p.D74E	PSG8_ENST00000406636.3_Intron|PSG8_ENST00000401467.2_Missense_Mutation_p.D74E|PSG8_ENST00000404209.4_Missense_Mutation_p.D74E	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	74	Ig-like V-type.					extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				AATGGTAGAGGTCCCTGATTT	0.423																																						uc002ouo.2		NA																	0					0						c.(220-222)GAC>GAA		pregnancy specific beta-1-glycoprotein 8 isoform							186.0	202.0	197.0					19																	43268276		2203	4296	6499	SO:0001583	missense	440533					extracellular region		g.chr19:43268276G>T	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.222C>A	19.37:g.43268276G>T	ENSP00000305005:p.Asp74Glu					PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc002oui.2_Intron|PSG8_uc002ouh.2_Missense_Mutation_p.D74E|PSG8_uc010ein.2_Intron|PSG8_uc002ouj.3_5'UTR|PSG8_uc002ouk.3_Intron|PSG8_uc002oul.3_Missense_Mutation_p.D74E|PSG8_uc002oum.3_Missense_Mutation_p.D74E|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Missense_Mutation_p.D74E	p.D74E	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN			2	320	-		Prostate(69;0.00899)	74			Ig-like V-type.		A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	c.222C>A	CCDS33037.1	.	.	.	.	.	.	.	.	.	.	g	6.338	0.430428	0.12045	.	.	ENSG00000124467	ENST00000404209;ENST00000401467;ENST00000407488;ENST00000306511	T;T;T	0.62941	-0.01;-0.01;-0.01	1.16	-2.32	0.06745	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.60025	0.2237	M	0.78637	2.42	0.09310	N	1	B;B;B;B;B	0.25235	0.012;0.121;0.101;0.017;0.021	B;B;B;B;B	0.35971	0.055;0.189;0.215;0.053;0.088	T	0.59563	-0.7431	9	0.72032	D	0.01	.	2.0859	0.03645	0.3971:0.0:0.3486:0.2543	.	74;74;74;74;74	B5MCQ0;Q9UQ74;E7ENH0;Q9UQ74-3;A5PKV3	.;PSG8_HUMAN;.;.;.	E	74	ENSP00000385869:D74E;ENSP00000386090:D74E;ENSP00000305005:D74E	ENSP00000305005:D74E	D	-	3	2	PSG8	47960116	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.093000	0.03362	-1.138000	0.02884	0.184000	0.17185	GAC		0.423	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			184	574	1	0	8.44e-94	1.3e-93	184	574				
SIX5	147912	broad.mit.edu	37	19	46268861	46268861	+	Silent	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:46268861C>A	ENST00000317578.6	-	3	2499	c.2118G>T	c.(2116-2118)ctG>ctT	p.L706L	SIX5_ENST00000560168.1_3'UTR|AC074212.5_ENST00000559756.1_RNA|AC074212.6_ENST00000590076.1_RNA|AC074212.5_ENST00000592217.2_RNA	NM_175875.4	NP_787071	Q8N196	SIX5_HUMAN	SIX homeobox 5	706					lens development in camera-type eye (GO:0002088)|negative regulation of cell proliferation (GO:0008285)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		CGGTGGCCCCCAGGAGCAGCC	0.672																																						uc002pdb.2		NA																	0				ovary(1)	1						c.(2116-2118)CTG>CTT		SIX homeobox 5							47.0	53.0	51.0					19																	46268861		2203	4300	6503	SO:0001819	synonymous_variant	147912					cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:46268861C>A	L08835	CCDS12673.1	19q13.32	2011-06-20	2007-07-13			ENSG00000177045		"""Homeoboxes / SINE class"""	10891	protein-coding gene	gene with protein product		600963	"""sine oculis homeobox (Drosophila) homolog 5"", ""sine oculis homeobox homolog 5 (Drosophila)"""	DMAHP		8595416	Standard	NM_175875		Approved		uc002pdb.3	Q8N196		ENST00000317578.6:c.2118G>T	19.37:g.46268861C>A						SIX5_uc002pdc.2_3'UTR	p.L706L	NM_175875	NP_787071	Q8N196	SIX5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)	3	2513	-		Ovarian(192;0.0308)|all_neural(266;0.112)	706						Silent	SNP	ENST00000317578.6	37	c.2118G>T	CCDS12673.1																																																																																				0.672	SIX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417341.3	NM_175875		67	109	1	0	9.08e-34	1.35e-33	67	109				
FPR2	2358	broad.mit.edu	37	19	52272482	52272482	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:52272482C>A	ENST00000598776.1	+	2	1343	c.571C>A	c.(571-573)Ctg>Atg	p.L191M	FPR2_ENST00000598953.1_Missense_Mutation_p.L191M|FPR2_ENST00000340023.6_Missense_Mutation_p.L191M	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	191					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|N-formyl peptide receptor activity (GO:0004982)			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						TGAGGAGAGGCTGAAGGTGGC	0.488																																						uc002pxr.2		NA																	0				lung(3)|ovary(1)	4						c.(571-573)CTG>ATG		formyl peptide receptor-like 1							140.0	124.0	130.0					19																	52272482		2203	4300	6503	SO:0001583	missense	2358				cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52272482C>A	M88107	CCDS12840.1	19q13.3-q13.4	2012-08-10	2008-04-17	2008-04-17		ENSG00000171049		"""GPCR / Class A : Formyl peptide receptors"", ""GPCR / Class A : Leukotriene receptors"""	3827	protein-coding gene	gene with protein product		136538	"""formyl peptide receptor-like 1"""	FPRL1		9054386	Standard	NM_001462		Approved	LXA4R, HM63, FPRH2, FMLPX, FPR2A, FMLP-R-II, ALXR	uc002pxr.3	P25090		ENST00000598776.1:c.571C>A	19.37:g.52272482C>A	ENSP00000468897:p.Leu191Met					FPR2_uc002pxs.3_Missense_Mutation_p.L191M|FPR2_uc010epf.2_Missense_Mutation_p.L191M	p.L191M	NM_001005738	NP_001005738	P25090	FPR2_HUMAN			2	616	+			191			Extracellular (Potential).		A8K3E2	Missense_Mutation	SNP	ENST00000598776.1	37	c.571C>A	CCDS12840.1	.	.	.	.	.	.	.	.	.	.	.	1.403	-0.577715	0.03854	.	.	ENSG00000171049	ENST00000340023	T	0.70869	-0.52	3.81	-7.61	0.01299	GPCR, rhodopsin-like superfamily (1);	3.887320	0.00999	U	0.003650	T	0.62085	0.2399	L	0.58302	1.8	0.09310	N	1	B	0.19935	0.04	B	0.23018	0.043	T	0.47761	-0.9092	10	0.45353	T	0.12	.	2.6457	0.04983	0.3908:0.2823:0.2328:0.094	.	191	P25090	FPR2_HUMAN	M	191	ENSP00000340191:L191M	ENSP00000340191:L191M	L	+	1	2	FPR2	56964294	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.380000	0.01066	-5.480000	0.00014	-1.893000	0.00533	CTG		0.488	FPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466912.2	NM_001005738		20	137	1	0	1.16e-05	1.33e-05	20	137				
NLRP8	126205	broad.mit.edu	37	19	56466176	56466176	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:56466176C>T	ENST00000291971.3	+	3	823	c.752C>T	c.(751-753)aCg>aTg	p.T251M	NLRP8_ENST00000590542.1_Missense_Mutation_p.T251M	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	251	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.T251M(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GTGAACCAGACGACAGACCAG	0.512																																						uc002qmh.2		NA																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13						c.(751-753)ACG>ATG		NLR family, pyrin domain containing 8							145.0	138.0	141.0					19																	56466176		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56466176C>T	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.752C>T	19.37:g.56466176C>T	ENSP00000291971:p.Thr251Met					NLRP8_uc010etg.2_Missense_Mutation_p.T251M	p.T251M	NM_176811	NP_789781	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	823	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	251			NACHT.		Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.752C>T	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	c	7.212	0.595529	0.13875	.	.	ENSG00000179709	ENST00000291971	T	0.23552	1.9	2.04	-4.08	0.03963	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.09158	0.0226	N	0.05383	-0.06	0.09310	N	1	B;B	0.23540	0.087;0.064	B;B	0.24394	0.024;0.053	T	0.15321	-1.0441	9	0.25106	T	0.35	.	1.0658	0.01611	0.1357:0.261:0.2708:0.3325	.	251;251	Q86W28-2;Q86W28	.;NALP8_HUMAN	M	251	ENSP00000291971:T251M	ENSP00000291971:T251M	T	+	2	0	NLRP8	61157988	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.211000	0.09332	-2.972000	0.00286	-0.279000	0.10071	ACG		0.512	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		49	210	0	0	0	0	49	210				
ZNF835	90485	broad.mit.edu	37	19	57176029	57176029	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:57176029A>T	ENST00000537055.2	-	2	769	c.538T>A	c.(538-540)Tac>Aac	p.Y180N		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	180					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)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GACGCCAGGTACGAGCCCTGG	0.706																																						uc010ygo.1		NA																	0				pancreas(3)|skin(1)	4						c.(604-606)TAC>AAC		zinc finger protein 835							19.0	20.0	20.0					19																	57176029		2198	4298	6496	SO:0001583	missense	90485							g.chr19:57176029A>T	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.538T>A	19.37:g.57176029A>T	ENSP00000444747:p.Tyr180Asn					ZNF835_uc010ygn.1_Missense_Mutation_p.Y180N	p.Y202N	NM_001005850	NP_001005850					2	604	-								B7Z5Y0|G3V1S0	Missense_Mutation	SNP	ENST00000537055.2	37	c.604T>A	CCDS56105.1	.	.	.	.	.	.	.	.	.	.	A	1.363	-0.588270	0.03799	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.07114	3.22	2.06	0.956	0.19608	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03095	0.0091	N	0.03948	-0.315	0.09310	N	1	B	0.21147	0.052	B	0.24701	0.055	T	0.47249	-0.9132	9	0.20046	T	0.44	.	2.7807	0.05360	0.4719:0.2669:0.0:0.2613	.	202	Q9Y2P0	ZN835_HUMAN	N	202;180	ENSP00000444747:Y180N	ENSP00000341756:Y202N	Y	-	1	0	ZNF835	61867841	0.000000	0.05858	0.145000	0.22337	0.934000	0.57294	-2.636000	0.00867	0.214000	0.20742	0.459000	0.35465	TAC		0.706	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		7	6	0	0	0	0	7	6				
PEG3	5178	broad.mit.edu	37	19	57327145	57327145	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:57327145G>T	ENST00000326441.9	-	10	3028	c.2665C>A	c.(2665-2667)Cgc>Agc	p.R889S	PEG3_ENST00000423103.2_Missense_Mutation_p.R889S|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.R763S|PEG3_ENST00000598410.1_Missense_Mutation_p.R765S|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	889					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCATAGTTGCGATTCTTACTG	0.443																																						uc002qnu.2		NA																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(2665-2667)CGC>AGC		paternally expressed 3 isoform 1							96.0	96.0	96.0					19																	57327145		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57327145G>T	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2665C>A	19.37:g.57327145G>T	ENSP00000326581:p.Arg889Ser					ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.R860S|PEG3_uc002qnv.2_Missense_Mutation_p.R889S|PEG3_uc002qnw.2_Missense_Mutation_p.R765S|PEG3_uc002qnx.2_Missense_Mutation_p.R763S|PEG3_uc010etr.2_Missense_Mutation_p.R889S	p.R889S	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	3016	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	889					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.2665C>A	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	6.320	0.427099	0.11987	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02345	4.33;4.33	3.9	1.8	0.24995	.	.	.	.	.	T	0.01320	0.0043	N	0.01874	-0.695	.	.	.	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.002;0.002	T	0.36163	-0.9759	8	0.54805	T	0.06	-19.0277	5.3295	0.15924	0.0:0.1023:0.1901:0.7077	.	765;889;824	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	S	889	ENSP00000326581:R889S;ENSP00000403051:R889S	ENSP00000326581:R889S	R	-	1	0	ZIM2	62018957	0.000000	0.05858	0.001000	0.08648	0.051000	0.14879	-1.119000	0.03276	0.350000	0.24002	-0.467000	0.05162	CGC		0.443	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			26	128	1	0	3.8e-18	5.27e-18	26	128				
USP29	57663	broad.mit.edu	37	19	57642105	57642105	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:57642105C>A	ENST00000254181.4	+	4	2516	c.2062C>A	c.(2062-2064)Cat>Aat	p.H688N	USP29_ENST00000598197.1_Missense_Mutation_p.H688N	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	688	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGTGCCTCAACATCCAGAACT	0.433																																						uc002qny.2		NA																	0				lung(6)|ovary(2)|breast(2)|pancreas(1)	11						c.(2062-2064)CAT>AAT		ubiquitin specific peptidase 29							70.0	65.0	67.0					19																	57642105		2203	4300	6503	SO:0001583	missense	57663				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57642105C>A		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.2062C>A	19.37:g.57642105C>A	ENSP00000254181:p.His688Asn						p.H688N	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	2418	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	688						Missense_Mutation	SNP	ENST00000254181.4	37	c.2062C>A	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.217923	0.00286	.	.	ENSG00000131864	ENST00000254181	T	0.40225	1.04	2.67	0.386	0.16254	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	.	.	.	.	T	0.13286	0.0322	N	0.02751	-0.505	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.31110	-0.9955	9	0.02654	T	1	-1.9958	4.2518	0.10698	0.5944:0.2172:0.0:0.1885	.	688	Q9HBJ7	UBP29_HUMAN	N	688	ENSP00000254181:H688N	ENSP00000254181:H688N	H	+	1	0	USP29	62333917	0.062000	0.20869	0.001000	0.08648	0.007000	0.05969	0.763000	0.26517	-0.002000	0.14469	-0.518000	0.04402	CAT		0.433	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			15	58	1	0	7.93e-07	9.35e-07	15	58				
ZNF460	10794	broad.mit.edu	37	19	57803285	57803285	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:57803285G>T	ENST00000360338.3	+	3	1698	c.1376G>T	c.(1375-1377)cGg>cTg	p.R459L	ZNF460_ENST00000537645.1_Missense_Mutation_p.R418L	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	459					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(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GCCTTTTGTCGGACCACAAAC	0.527																																						uc002qog.2		NA																	0					0						c.(1375-1377)CGG>CTG		zinc finger protein 460							139.0	121.0	127.0					19																	57803285		2203	4300	6503	SO:0001583	missense	10794				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57803285G>T	X78931	CCDS12949.1	19q13.4	2013-01-08				ENSG00000197714		"""Zinc fingers, C2H2-type"", ""-"""	21628	protein-coding gene	gene with protein product		604755	"""zinc finger protein 272"""	ZNF272		15004467	Standard	NM_006635		Approved	HZF8	uc002qog.2	Q14592		ENST00000360338.3:c.1376G>T	19.37:g.57803285G>T	ENSP00000353491:p.Arg459Leu					ZNF460_uc010ygv.1_Missense_Mutation_p.R418L	p.R459L	NM_006635	NP_006626	Q14592	ZN460_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	1698	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	459			C2H2-type 10.		A4FU64|B4DNX9|Q2VPC7|Q6VSF8	Missense_Mutation	SNP	ENST00000360338.3	37	c.1376G>T	CCDS12949.1	.	.	.	.	.	.	.	.	.	.	G	1.710	-0.499261	0.04291	.	.	ENSG00000197714	ENST00000537645;ENST00000360338	T;T	0.27890	1.64;1.64	1.68	-1.94	0.07571	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16727	0.0402	L	0.41961	1.31	0.09310	N	1	B	0.21309	0.054	B	0.06405	0.002	T	0.32798	-0.9893	9	0.13853	T	0.58	.	0.3884	0.00406	0.3468:0.1867:0.2779:0.1885	.	459	Q14592	ZN460_HUMAN	L	418;459	ENSP00000446167:R418L;ENSP00000353491:R459L	ENSP00000353491:R459L	R	+	2	0	ZNF460	62495097	0.000000	0.05858	0.000000	0.03702	0.746000	0.42486	-3.168000	0.00574	-0.427000	0.07350	0.650000	0.86243	CGG		0.527	ZNF460-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465727.1	NM_006635		21	98	1	0	3.88e-16	5.25e-16	21	98				
PXDN	7837	broad.mit.edu	37	2	1677464	1677464	+	Silent	SNP	G	G	A	rs61746899	byFrequency	TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:1677464G>A	ENST00000252804.4	-	9	1019	c.969C>T	c.(967-969)gcC>gcT	p.A323A	PXDN_ENST00000483018.1_5'UTR	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	323	Ig-like C2-type 1.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TCACCTCTCCGGCCACGTTCT	0.562													G|||	3	0.000599042	0.0023	0.0	5008	,	,		19360	0.0		0.0	False		,,,				2504	0.0					uc002qxa.2		NA																	0				pancreas(6)|ovary(2)	8						c.(967-969)GCC>GCT		peroxidasin precursor		G		7,4181		0,7,2087	184.0	188.0	187.0		969	-7.6	0.3	2	dbSNP_129	187	0,8456		0,0,4228	no	coding-synonymous	PXDN	NM_012293.1		0,7,6315	AA,AG,GG		0.0,0.1671,0.0554		323/1480	1677464	7,12637	2094	4228	6322	SO:0001819	synonymous_variant	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1677464G>A	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.969C>T	2.37:g.1677464G>A						PXDN_uc002qxb.1_Silent_p.A323A|PXDN_uc002qxc.1_Silent_p.A140A	p.A323A	NM_012293	NP_036425	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	9	1033	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	323			Ig-like C2-type 1.		A8QM65|D6W4Y0|Q4KMG2	Silent	SNP	ENST00000252804.4	37	c.969C>T	CCDS46221.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	10.76	1.440831	0.25900	0.001671	0.0	ENSG00000130508	ENST00000433670	.	.	.	5.42	-7.6	0.01303	.	.	.	.	.	T	0.44561	0.1299	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48514	-0.9029	4	.	.	.	-21.0506	6.0462	0.19762	0.4261:0.0:0.1985:0.3754	.	.	.	.	L	319	.	.	P	-	2	0	PXDN	1656471	0.002000	0.14202	0.290000	0.24890	0.975000	0.68041	-1.243000	0.02905	-1.412000	0.02030	0.561000	0.74099	CCG		0.562	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		59	263	0	0	0	0	59	263				
MYT1L	23040	broad.mit.edu	37	2	1906998	1906998	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:1906998G>C	ENST00000399161.2	-	14	2633	c.1886C>G	c.(1885-1887)aCg>aGg	p.T629R	MYT1L_ENST00000428368.2_Missense_Mutation_p.T627R	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	629					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|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)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GGAACGCGGCGTAGTTGTGGG	0.463																																						uc002qxe.2		NA																	0				ovary(5)|central_nervous_system(1)	6						c.(1885-1887)ACG>AGG		myelin transcription factor 1-like							95.0	88.0	90.0					2																	1906998		1969	4166	6135	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1906998G>C	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1886C>G	2.37:g.1906998G>C	ENSP00000382114:p.Thr629Arg					MYT1L_uc002qxd.2_Missense_Mutation_p.T627R|MYT1L_uc010ewl.1_RNA	p.T629R	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	14	2713	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	629					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.1886C>G		.	.	.	.	.	.	.	.	.	.	G	25.0	4.589962	0.86851	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.52295	0.67;0.67	5.51	5.51	0.81932	Myelin transcription factor 1 (1);	0.000000	0.85682	D	0.000000	T	0.71745	0.3376	M	0.80183	2.485	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.71656	0.974;0.94	T	0.75399	-0.3331	10	0.87932	D	0	-34.7086	19.4196	0.94715	0.0:0.0:1.0:0.0	.	629;627	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	R	629;575;627	ENSP00000382114:T629R;ENSP00000396103:T627R	ENSP00000295067:T575R	T	-	2	0	MYT1L	1886005	1.000000	0.71417	0.995000	0.50966	0.705000	0.40729	9.787000	0.99055	2.599000	0.87857	0.561000	0.74099	ACG		0.463	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		15	43	0	0	0	0	15	43				
GREB1	9687	broad.mit.edu	37	2	11741112	11741112	+	Silent	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:11741112C>T	ENST00000381486.2	+	16	2820	c.2520C>T	c.(2518-2520)tcC>tcT	p.S840S	GREB1_ENST00000234142.5_Silent_p.S840S	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	840						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GGCCTGCCTCCTGCAGTAATG	0.532																																					Ovarian(39;850 945 2785 23371 33093)	uc002rbk.1		NA																	0				ovary(1)	1						c.(2518-2520)TCC>TCT		growth regulation by estrogen in breast cancer 1							68.0	72.0	70.0					2																	11741112		2141	4253	6394	SO:0001819	synonymous_variant	9687					integral to membrane		g.chr2:11741112C>T		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.2520C>T	2.37:g.11741112C>T						GREB1_uc002rbo.1_Silent_p.S474S	p.S840S	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	16	2820	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		840					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Silent	SNP	ENST00000381486.2	37	c.2520C>T	CCDS42655.1																																																																																				0.532	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		20	86	0	0	0	0	20	86				
GREB1	9687	broad.mit.edu	37	2	11758774	11758774	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:11758774T>C	ENST00000381486.2	+	22	4073	c.3773T>C	c.(3772-3774)aTt>aCt	p.I1258T	GREB1_ENST00000396123.1_Missense_Mutation_p.I256T|GREB1_ENST00000234142.5_Missense_Mutation_p.I1258T	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1258						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CAGCCACCCATTGTCTTCTTG	0.667																																					Ovarian(39;850 945 2785 23371 33093)	uc002rbk.1		NA																	0				ovary(1)	1						c.(3772-3774)ATT>ACT		growth regulation by estrogen in breast cancer 1							31.0	35.0	34.0					2																	11758774		2149	4245	6394	SO:0001583	missense	9687					integral to membrane		g.chr2:11758774T>C		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.3773T>C	2.37:g.11758774T>C	ENSP00000370896:p.Ile1258Thr					GREB1_uc002rbp.1_Missense_Mutation_p.I256T	p.I1258T	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	22	4073	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1258					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.3773T>C	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	T	3.184	-0.167344	0.06461	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.23754	3.21;3.21;1.89	4.79	4.79	0.61399	.	0.456213	0.24447	N	0.038459	T	0.20577	0.0495	L	0.38531	1.155	0.09310	N	0.999999	B	0.11235	0.004	B	0.14578	0.011	T	0.14420	-1.0473	10	0.15066	T	0.55	-25.8924	14.313	0.66429	0.0:0.0:0.0:1.0	.	1258	Q4ZG55	GREB1_HUMAN	T	1258;1258;256	ENSP00000370896:I1258T;ENSP00000234142:I1258T;ENSP00000379429:I256T	ENSP00000234142:I1258T	I	+	2	0	GREB1	11676225	0.508000	0.26154	0.045000	0.18777	0.009000	0.06853	4.433000	0.59929	1.802000	0.52723	0.445000	0.29226	ATT		0.667	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		18	26	0	0	0	0	18	26				
TRIB2	28951	broad.mit.edu	37	2	12880596	12880596	+	Silent	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:12880596C>T	ENST00000155926.4	+	3	2127	c.708C>T	c.(706-708)gaC>gaT	p.D236D	TRIB2_ENST00000381465.2_Silent_p.D100D	NM_021643.3	NP_067675.1			tribbles pseudokinase 2									p.D236D(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AAGCAGCCGACGTGTGGAGCC	0.592																																						uc002rbv.3		NA																	1	Substitution - coding silent(1)		breast(1)	stomach(1)	1						c.(706-708)GAC>GAT		tribbles homolog 2							81.0	63.0	69.0					2																	12880596		2203	4300	6503	SO:0001819	synonymous_variant	28951				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	g.chr2:12880596C>T	AY245544	CCDS1683.1	2p25.1	2013-10-03	2013-10-03		ENSG00000071575	ENSG00000071575			30809	protein-coding gene	gene with protein product		609462	"""tribbles homolog 2 (Drosophila)"""			12736262, 17097562, 16715410	Standard	NM_021643		Approved	TRB2, GS3955	uc002rbv.4	Q92519	OTTHUMG00000090575	ENST00000155926.4:c.708C>T	2.37:g.12880596C>T						TRIB2_uc010yjp.1_Silent_p.D100D	p.D236D	NM_021643	NP_067675	Q92519	TRIB2_HUMAN			3	2144	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		236			Protein kinase.			Silent	SNP	ENST00000155926.4	37	c.708C>T	CCDS1683.1																																																																																				0.592	TRIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207114.2	NM_021643		11	85	0	0	0	0	11	85				
C2orf44	80304	broad.mit.edu	37	2	24255744	24255744	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:24255744T>C	ENST00000295148.4	-	3	1948	c.1891A>G	c.(1891-1893)Aca>Gca	p.T631A	C2orf44_ENST00000406895.3_Intron	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	631									C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCTGAACTGTACTGAGCCTT	0.408			T	ALK	NSCLC																																	uc002rep.2		NA		Dom	yes		2	2p23.3	80304		chromosome 2 open reading frame 44			E					0				ovary(1)|breast(1)	2						c.(1891-1893)ACA>GCA		hypothetical protein LOC80304 isoform 1							173.0	165.0	168.0					2																	24255744		2203	4300	6503	SO:0001583	missense	80304						protein binding	g.chr2:24255744T>C	AK025598	CCDS1705.1, CCDS46229.1	2p23.3	2012-07-30			ENSG00000163026	ENSG00000163026			26157	protein-coding gene	gene with protein product						22327622	Standard	NM_025203		Approved	FLJ21945	uc002rep.2	Q9H6R7	OTTHUMG00000125498	ENST00000295148.4:c.1891A>G	2.37:g.24255744T>C	ENSP00000295148:p.Thr631Ala					C2orf44_uc010eya.2_Intron	p.T631A	NM_025203	NP_079479	Q9H6R7	CB044_HUMAN			3	2022	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		631					D6W532|Q8IYK0|Q9HBP5	Missense_Mutation	SNP	ENST00000295148.4	37	c.1891A>G	CCDS1705.1	.	.	.	.	.	.	.	.	.	.	T	8.255	0.809826	0.16537	.	.	ENSG00000163026	ENST00000295148	T	0.41065	1.01	5.49	-0.587	0.11690	.	1.152970	0.06144	N	0.672804	T	0.34542	0.0901	L	0.50333	1.59	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.27971	-1.0058	10	0.21014	T	0.42	-0.2837	7.2128	0.25943	0.1123:0.4312:0.0:0.4566	.	631	Q9H6R7	CB044_HUMAN	A	631	ENSP00000295148:T631A	ENSP00000295148:T631A	T	-	1	0	C2orf44	24109248	0.000000	0.05858	0.003000	0.11579	0.929000	0.56500	-0.130000	0.10498	-0.053000	0.13289	0.533000	0.62120	ACA		0.408	C2orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246825.1	NM_025203		39	177	0	0	0	0	39	177				
LTBP1	4052	broad.mit.edu	37	2	33411996	33411996	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:33411996C>A	ENST00000404816.2	+	6	1628	c.1275C>A	c.(1273-1275)ttC>ttA	p.F425L	LTBP1_ENST00000407925.1_Missense_Mutation_p.F99L|LTBP1_ENST00000354476.3_Missense_Mutation_p.F425L|LTBP1_ENST00000404525.1_Missense_Mutation_p.F99L|LTBP1_ENST00000418533.2_Missense_Mutation_p.F99L|LTBP1_ENST00000390003.4_Missense_Mutation_p.F99L|LTBP1_ENST00000402934.1_Missense_Mutation_p.F99L			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	425	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CTCCAAATTTCACAGGAAAAC	0.483																																						uc002ros.2		NA																	0				ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8						c.(1273-1275)TTC>TTA		latent transforming growth factor beta binding							115.0	108.0	110.0					2																	33411996		2203	4300	6503	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33411996C>A		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.1275C>A	2.37:g.33411996C>A	ENSP00000386043:p.Phe425Leu					LTBP1_uc002rot.2_Missense_Mutation_p.F99L|LTBP1_uc002rou.2_Missense_Mutation_p.F99L|LTBP1_uc002rov.2_Missense_Mutation_p.F99L|LTBP1_uc010ymz.1_Missense_Mutation_p.F99L|LTBP1_uc010yna.1_Missense_Mutation_p.F99L	p.F425L	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			6	1275	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	425			EGF-like 2.		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.1275C>A	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	C	14.76	2.631187	0.46944	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000432635;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925	D;D;D;D;D;D;D	0.93659	-3.26;-3.26;-3.26;-3.26;-3.26;-3.26;-3.26	5.3	3.47	0.39725	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.90878	0.7134	L	0.52905	1.665	0.80722	D	1	P;B;B;P;P;P	0.44578	0.749;0.24;0.243;0.544;0.544;0.838	B;B;B;B;B;B	0.44133	0.257;0.074;0.138;0.204;0.204;0.442	D	0.89105	0.3492	9	0.40728	T	0.16	.	9.5272	0.39171	0.0:0.7972:0.0:0.2028	.	425;99;99;99;99;425	Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	LTBP1_HUMAN;.;.;.;.;.	L	425;425;114;99;99;99;99;99	ENSP00000386043:F425L;ENSP00000346467:F425L;ENSP00000374653:F99L;ENSP00000393057:F99L;ENSP00000384373:F99L;ENSP00000385359:F99L;ENSP00000384091:F99L	ENSP00000346467:F425L	F	+	3	2	LTBP1	33265500	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.017000	0.29989	2.468000	0.83385	0.655000	0.94253	TTC		0.483	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		39	68	1	0	8.74e-17	1.19e-16	39	68				
LTBP1	4052	broad.mit.edu	37	2	33525538	33525538	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:33525538G>T	ENST00000404816.2	+	21	3609	c.3256G>T	c.(3256-3258)Ggg>Tgg	p.G1086W	LTBP1_ENST00000407925.1_Missense_Mutation_p.G760W|LTBP1_ENST00000272273.5_Missense_Mutation_p.G26W|LTBP1_ENST00000354476.3_Missense_Mutation_p.G1087W|LTBP1_ENST00000404525.1_Missense_Mutation_p.G707W|LTBP1_ENST00000418533.2_Missense_Mutation_p.G760W|LTBP1_ENST00000498013.1_3'UTR|LTBP1_ENST00000390003.4_Missense_Mutation_p.G761W|LTBP1_ENST00000402934.1_Missense_Mutation_p.G707W			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1086	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				ATGTCAGCAAGGGAATCTATG	0.488																																						uc002ros.2		NA																	0				ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8						c.(3259-3261)GGG>TGG		latent transforming growth factor beta binding							110.0	111.0	111.0					2																	33525538		2203	4300	6503	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33525538G>T		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.3256G>T	2.37:g.33525538G>T	ENSP00000386043:p.Gly1086Trp					LTBP1_uc002rot.2_Missense_Mutation_p.G761W|LTBP1_uc002rou.2_Missense_Mutation_p.G760W|LTBP1_uc002rov.2_Missense_Mutation_p.G707W|LTBP1_uc010ymz.1_Missense_Mutation_p.G760W|LTBP1_uc010yna.1_Missense_Mutation_p.G707W|LTBP1_uc010ynb.1_Missense_Mutation_p.G26W	p.G1087W	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			21	3259	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	1086			EGF-like 9; calcium-binding (Potential).		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.3259G>T	CCDS33177.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.71|16.71	3.198002|3.198002	0.58126|0.58126	.|.	.|.	ENSG00000049323|ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000272273|ENST00000415140	D;D;D;D;D;D;D;D|.	0.93307|.	-2.53;-2.53;-2.53;-2.53;-2.53;-2.53;-2.53;-3.2|.	5.39|5.39	5.39|5.39	0.77823|0.77823	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);|.	.|.	.|.	.|.	.|.	T|T	0.72653|0.72653	0.3487|0.3487	M|M	0.73753|0.73753	2.245|2.245	0.49915|0.49915	D|D	0.999837|0.999837	P;D;D;D;D;D;D|.	0.89917|.	0.946;1.0;1.0;0.998;1.0;1.0;1.0|.	P;D;D;D;D;D;D|.	0.97110|.	0.682;1.0;0.999;0.96;0.999;0.998;0.999|.	T|T	0.73023|0.73023	-0.4113|-0.4113	9|5	0.72032|.	D|.	0.01|.	.|.	12.1059|12.1059	0.53811|0.53811	0.0826:0.0:0.9174:0.0|0.0826:0.0:0.9174:0.0	.|.	26;1086;760;707;760;761;1087|.	E7EUU6;Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4|.	.;LTBP1_HUMAN;.;.;.;.;.|.	W|N	1086;1087;761;760;707;707;760;26|47	ENSP00000386043:G1086W;ENSP00000346467:G1087W;ENSP00000374653:G761W;ENSP00000393057:G760W;ENSP00000384373:G707W;ENSP00000385359:G707W;ENSP00000384091:G760W;ENSP00000272273:G26W|.	ENSP00000272273:G26W|.	G|K	+|+	1|3	0|2	LTBP1|LTBP1	33379042|33379042	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.675000|0.675000	0.39556|0.39556	5.109000|5.109000	0.64615|0.64615	2.532000|2.532000	0.85374|0.85374	0.555000|0.555000	0.69702|0.69702	GGG|AAG		0.488	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		15	90	1	0	4.75e-09	5.91e-09	15	90				
VRK2	7444	broad.mit.edu	37	2	58276056	58276056	+	Silent	SNP	A	A	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:58276056A>T	ENST00000435505.2	+	5	835	c.90A>T	c.(88-90)gtA>gtT	p.V30V	VRK2_ENST00000340157.4_Silent_p.V30V|VRK2_ENST00000417641.2_Silent_p.V30V|VRK2_ENST00000440705.2_Silent_p.V7V|VRK2_ENST00000412104.2_Silent_p.V30V			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	30	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to oxidative stress (GO:0034599)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interleukin-1-mediated signaling pathway (GO:2000659)|regulation of MAPK cascade (GO:0043408)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						ATCAGTGGGTACTGGGCAAGA	0.368																																						uc002rzo.2		NA																	0				ovary(1)	1						c.(88-90)GTA>GTT		vaccinia related kinase 2 isoform 2							121.0	131.0	128.0					2																	58276056		2203	4300	6503	SO:0001819	synonymous_variant	7444					integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:58276056A>T	AK058199	CCDS1859.1, CCDS46291.1, CCDS46292.1	2p16.1	2008-05-15			ENSG00000028116	ENSG00000028116			12719	protein-coding gene	gene with protein product		602169					Standard	NM_001130480		Approved		uc002rzv.3	Q86Y07	OTTHUMG00000129348	ENST00000435505.2:c.90A>T	2.37:g.58276056A>T						VRK2_uc010fcb.2_Silent_p.V30V|VRK2_uc002rzs.2_Silent_p.V30V|VRK2_uc002rzr.2_Silent_p.V30V|VRK2_uc010fcc.2_5'UTR|VRK2_uc002rzv.2_Silent_p.V30V|VRK2_uc010fcd.2_Silent_p.V7V|VRK2_uc002rzp.2_Silent_p.V30V|VRK2_uc010ypg.1_Silent_p.V30V|VRK2_uc002rzq.2_Silent_p.V30V|VRK2_uc002rzu.2_Silent_p.V30V|VRK2_uc002rzt.2_5'UTR	p.V30V	NM_001130482	NP_001123954	Q86Y07	VRK2_HUMAN			5	835	+			30			Protein kinase.		B4DKL0|D6W5D4|D6W5D6|Q49AK9|Q53EU9|Q53S39|Q53S77|Q53TU1|Q86Y08|Q86Y09|Q86Y10|Q86Y11|Q86Y12|Q8IXI5|Q99987	Silent	SNP	ENST00000435505.2	37	c.90A>T	CCDS1859.1																																																																																				0.368	VRK2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325304.2	NM_006296		20	91	0	0	0	0	20	91				
DYSF	8291	broad.mit.edu	37	2	71742778	71742778	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:71742778G>A	ENST00000258104.3	+	7	966	c.689G>A	c.(688-690)cGc>cAc	p.R230H	DYSF_ENST00000409651.1_Missense_Mutation_p.R262H|DYSF_ENST00000429174.2_Missense_Mutation_p.R230H|DYSF_ENST00000410041.1_Missense_Mutation_p.R262H|DYSF_ENST00000394120.2_Missense_Mutation_p.R231H|DYSF_ENST00000413539.2_Missense_Mutation_p.R261H|DYSF_ENST00000409744.1_Missense_Mutation_p.R231H|DYSF_ENST00000409582.3_Missense_Mutation_p.R261H|DYSF_ENST00000410020.3_Missense_Mutation_p.R262H|DYSF_ENST00000409762.1_Missense_Mutation_p.R261H|DYSF_ENST00000409366.1_Missense_Mutation_p.R231H	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	230	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ATCGAGGGGCGCCAGCTGCCG	0.592																																						uc002sie.2		NA																	0				ovary(3)|breast(2)|pancreas(1)|skin(1)	7						c.(688-690)CGC>CAC		dysferlin isoform 8							86.0	92.0	90.0					2																	71742778		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71742778G>A	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.689G>A	2.37:g.71742778G>A	ENSP00000258104:p.Arg230His					DYSF_uc010feg.2_Missense_Mutation_p.R261H|DYSF_uc010feh.2_Missense_Mutation_p.R230H|DYSF_uc002sig.3_Missense_Mutation_p.R230H|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.R230H|DYSF_uc010fef.2_Missense_Mutation_p.R261H|DYSF_uc010fei.2_Missense_Mutation_p.R261H|DYSF_uc010fek.2_Missense_Mutation_p.R262H|DYSF_uc010fej.2_Missense_Mutation_p.R231H|DYSF_uc010fel.2_Missense_Mutation_p.R231H|DYSF_uc010feo.2_Missense_Mutation_p.R262H|DYSF_uc010fem.2_Missense_Mutation_p.R231H|DYSF_uc010fen.2_Missense_Mutation_p.R262H|DYSF_uc002sif.2_Missense_Mutation_p.R231H	p.R230H	NM_003494	NP_003485	O75923	DYSF_HUMAN			7	1065	+			230			Cytoplasmic (Potential).|C2 2.		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.689G>A	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.011503	0.75046	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	T;T;T;T;T;T;T;T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54	5.04	5.04	0.67666	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.85877	0.5799	M	0.86864	2.845	0.49299	D	0.999772	D;D;D;D;D;D;P;P;B;B;B;B;D;B	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;0.488;0.488;0.026;0.287;0.081;0.014;1.0;0.032	D;D;D;D;D;D;B;B;B;B;B;B;D;B	0.97110	0.999;0.999;0.999;0.999;1.0;1.0;0.3;0.22;0.044;0.2;0.107;0.044;0.999;0.073	D	0.87707	0.2564	10	0.56958	D	0.05	-21.5544	16.2545	0.82505	0.0:0.0:1.0:0.0	.	262;262;231;231;262;231;261;230;261;261;230;230;231;230	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	H	261;261;261;230;230;262;231;231;231;262;262	ENSP00000407046:R261H;ENSP00000387137:R261H;ENSP00000386547:R261H;ENSP00000398305:R230H;ENSP00000258104:R230H;ENSP00000386683:R262H;ENSP00000377678:R231H;ENSP00000386285:R231H;ENSP00000386512:R231H;ENSP00000386881:R262H;ENSP00000386617:R262H	ENSP00000258104:R230H	R	+	2	0	DYSF	71596286	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.363000	0.79516	2.497000	0.84241	0.643000	0.83706	CGC		0.592	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		56	160	0	0	0	0	56	160				
M1AP	130951	broad.mit.edu	37	2	74789507	74789507	+	Missense_Mutation	SNP	G	G	C	rs200523774		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:74789507G>C	ENST00000290536.5	-	8	1234	c.1118C>G	c.(1117-1119)cCa>cGa	p.P373R	M1AP_ENST00000536235.1_Missense_Mutation_p.P373R|M1AP_ENST00000409585.1_Missense_Mutation_p.P373R|M1AP_ENST00000464686.1_5'UTR|M1AP_ENST00000358434.2_Intron	NM_001281296.1|NM_138804.3	NP_001268225.1|NP_620159.2	Q8TC57	M1AP_HUMAN	meiosis 1 associated protein	373					cell differentiation (GO:0030154)|chromatin assembly (GO:0031497)|female gamete generation (GO:0007292)|male meiosis chromosome separation (GO:0051308)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											GCTGTGTCCTGGGCCCGGTGG	0.527																																						uc002smy.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1117-1119)CCA>CGA		hypothetical protein LOC130951							182.0	149.0	160.0					2																	74789507		2203	4300	6503	SO:0001583	missense	130951				chromatin assembly|female gamete generation|RNA processing|spermatogenesis	integral to membrane		g.chr2:74789507G>C		CCDS33229.1, CCDS62941.1	2p13.1	2013-02-05	2013-02-05	2013-01-16	ENSG00000159374	ENSG00000159374			25183	protein-coding gene	gene with protein product	"""meiosis 1 arresting protein"", ""spermatogenesis associated 37"""		"""chromosome 2 open reading frame 65"""	C2orf65		16881047, 23269666	Standard	NM_138804		Approved	D6Mm5e, SPATA37	uc002smy.3	Q8TC57	OTTHUMG00000152918	ENST00000290536.5:c.1118C>G	2.37:g.74789507G>C	ENSP00000290536:p.Pro373Arg					C2orf65_uc010ysa.1_Missense_Mutation_p.P373R|C2orf65_uc010ffp.2_Intron|C2orf65_uc002smx.2_Missense_Mutation_p.P129R	p.P373R	NM_138804	NP_620159	Q8TC57	CB065_HUMAN			8	1235	-			373					B7Z6E7|E9PGG8|Q6ZP30|Q96L07	Missense_Mutation	SNP	ENST00000290536.5	37	c.1118C>G	CCDS33229.1	.	.	.	.	.	.	.	.	.	.	G	0.033	-1.321962	0.01320	.	.	ENSG00000159374	ENST00000290536;ENST00000409585;ENST00000536235	T;T;T	0.41758	0.99;0.99;0.99	5.41	-10.8	0.00216	.	1.970240	0.02123	N	0.055742	T	0.15392	0.0371	N	0.11560	0.145	0.09310	N	0.999998	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.10450	0.005;0.005;0.005	T	0.16305	-1.0407	10	0.09843	T	0.71	-18.7483	2.1265	0.03740	0.0951:0.2108:0.2831:0.4111	.	373;373;129	E9PGG8;Q8TC57;B3KX03	.;CB065_HUMAN;.	R	373	ENSP00000290536:P373R;ENSP00000386793:P373R;ENSP00000445662:P373R	ENSP00000290536:P373R	P	-	2	0	C2orf65	74643015	0.000000	0.05858	0.000000	0.03702	0.089000	0.18198	-2.277000	0.01160	-2.680000	0.00409	0.655000	0.94253	CCA		0.527	M1AP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328569.1	NM_138804		32	88	0	0	0	0	32	88				
LRRTM4	80059	broad.mit.edu	37	2	76975838	76975838	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:76975838C>G	ENST00000409093.1	-	4	2092	c.1756G>C	c.(1756-1758)Gag>Cag	p.E586Q	LRRTM4_ENST00000409884.1_Missense_Mutation_p.E586Q|LRRTM4_ENST00000409911.1_Missense_Mutation_p.E587Q			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	586					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GCAATTCTCTCTAGGTAGATG	0.597																																						uc002snr.2		NA																	0				pancreas(3)|ovary(1)	4						c.(1756-1758)GAG>CAG		leucine rich repeat transmembrane neuronal 4							140.0	126.0	131.0					2																	76975838		1568	3582	5150	SO:0001583	missense	80059					integral to membrane		g.chr2:76975838C>G	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.1756G>C	2.37:g.76975838C>G	ENSP00000386357:p.Glu586Gln					LRRTM4_uc002snq.2_Missense_Mutation_p.E586Q	p.E586Q	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	4	2171	-			586			Cytoplasmic (Potential).		Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	c.1756G>C	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.029538	0.54790	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093	T;T;T	0.60171	0.21;0.24;0.24	5.69	5.69	0.88448	.	.	.	.	.	T	0.61337	0.2339	N	0.14661	0.345	0.80722	D	1	P	0.51653	0.947	D	0.65140	0.932	T	0.65990	-0.6034	9	0.59425	D	0.04	.	17.3094	0.87205	0.0:1.0:0.0:0.0	.	586	Q86VH4	LRRT4_HUMAN	Q	587;586;586	ENSP00000387228:E587Q;ENSP00000387297:E586Q;ENSP00000386357:E586Q	ENSP00000386357:E586Q	E	-	1	0	LRRTM4	76829346	0.999000	0.42202	0.997000	0.53966	0.071000	0.16799	5.211000	0.65219	2.682000	0.91365	0.650000	0.86243	GAG		0.597	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		45	124	0	0	0	0	45	124				
REG1A	5967	broad.mit.edu	37	2	79349177	79349177	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:79349177T>A	ENST00000233735.1	+	4	350	c.247T>A	c.(247-249)Ttt>Att	p.F83I		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	83	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						CGAGGGTGCCTTTGTGGCCTC	0.522																																						uc002snz.2		NA																	0					0						c.(247-249)TTT>ATT		regenerating islet-derived 1 alpha precursor							145.0	130.0	135.0					2																	79349177		2203	4300	6503	SO:0001583	missense	5967				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	g.chr2:79349177T>A		CCDS1964.1	2p12	2008-09-04	2008-06-04		ENSG00000115386	ENSG00000115386			9951	protein-coding gene	gene with protein product	"""pancreatic stone protein"", ""pancreatic thread protein"""	167770	"""regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)"""	REG		2332435, 8333731	Standard	NM_002909		Approved	PSP, PTP, PSPS, PSPS1	uc002snz.3	P05451	OTTHUMG00000130016	ENST00000233735.1:c.247T>A	2.37:g.79349177T>A	ENSP00000233735:p.Phe83Ile					REG1A_uc010ffx.1_3'UTR|REG1A_uc010ysd.1_Missense_Mutation_p.F83I	p.F83I	NM_002909	NP_002900	P05451	REG1A_HUMAN			4	350	+			83			C-type lectin.		P11379|Q4ZG28	Missense_Mutation	SNP	ENST00000233735.1	37	c.247T>A	CCDS1964.1	.	.	.	.	.	.	.	.	.	.	t	15.53	2.861622	0.51482	.	.	ENSG00000115386	ENST00000233735	T	0.12147	2.71	3.51	3.51	0.40186	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.38381	N	0.001717	T	0.42899	0.1223	M	0.93328	3.405	0.09310	N	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.34675	-0.9819	10	0.52906	T	0.07	.	8.5922	0.33695	0.0:0.0:0.0:1.0	.	83	P05451	REG1A_HUMAN	I	83	ENSP00000233735:F83I	ENSP00000233735:F83I	F	+	1	0	REG1A	79202685	0.244000	0.23889	0.011000	0.14972	0.561000	0.35649	3.023000	0.49666	1.592000	0.50018	0.460000	0.39030	TTT		0.522	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252289.1	NM_002909		29	111	0	0	0	0	29	111				
AFF3	3899	broad.mit.edu	37	2	100625372	100625372	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:100625372C>T	ENST00000409236.2	-	3	188	c.76G>A	c.(76-78)Gca>Aca	p.A26T	AFF3_ENST00000317233.4_Missense_Mutation_p.A26T|AFF3_ENST00000356421.2_Missense_Mutation_p.A51T|AFF3_ENST00000409579.1_Missense_Mutation_p.A51T			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	26					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CTCCGTAATGCATTTCTATCT	0.398																																						uc002tag.2		NA																	0				ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						c.(76-78)GCA>ACA		AF4/FMR2 family, member 3 isoform 1							217.0	188.0	198.0					2																	100625372		2203	4300	6503	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100625372C>T	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.76G>A	2.37:g.100625372C>T	ENSP00000387207:p.Ala26Thr					AFF3_uc002taf.2_Missense_Mutation_p.A51T|AFF3_uc010fiq.1_Missense_Mutation_p.A26T|AFF3_uc010yvr.1_Missense_Mutation_p.A180T|AFF3_uc002tah.1_Missense_Mutation_p.A51T|AFF3_uc010fir.1_Missense_Mutation_p.A103T|AFF3_uc002tai.2_5'Flank	p.A26T	NM_002285	NP_002276	P51826	AFF3_HUMAN			4	312	-			26					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.76G>A	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.631485	0.67015	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288;ENST00000432037;ENST00000423966;ENST00000441400;ENST00000424600;ENST00000416492;ENST00000440445;ENST00000415384	T;T;T;T;T;T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18	5.97	5.97	0.96955	.	0.789352	0.11297	N	0.578603	T	0.59348	0.2187	L	0.46157	1.445	0.33116	D	0.541164	P;P;B;B	0.43938	0.822;0.675;0.338;0.29	B;B;B;B	0.40825	0.341;0.154;0.239;0.098	T	0.65821	-0.6075	10	0.39692	T	0.17	.	14.5705	0.68208	0.0:0.9307:0.0:0.0693	.	180;180;26;51	B7Z4I6;C9JXV5;P51826;P51826-2	.;.;AFF3_HUMAN;.	T	26;51;51;26;26;180;51;26;26;26;26;26;103;180	ENSP00000317421:A26T;ENSP00000348793:A51T;ENSP00000386834:A51T;ENSP00000387207:A26T;ENSP00000406484:A26T;ENSP00000396582:A26T;ENSP00000399795:A26T;ENSP00000411383:A26T;ENSP00000395068:A26T;ENSP00000393732:A103T	ENSP00000317421:A26T	A	-	1	0	AFF3	99991804	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.252000	0.51461	2.836000	0.97738	0.655000	0.94253	GCA		0.398	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		8	29	0	0	0	0	8	29				
DPP10	57628	broad.mit.edu	37	2	115200370	115200370	+	Silent	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:115200370C>A	ENST00000410059.1	+	1	495	c.15C>A	c.(13-15)gcC>gcA	p.A5A		NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	5	Mediates effects on KCND2.					integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						ACCAAACTGCCAGCGTGTCCC	0.468																																						uc002tla.1		NA																	0				ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						c.(13-15)GCC>GCA		dipeptidyl peptidase 10 isoform long							150.0	147.0	148.0					2																	115200370		2044	4206	6250	SO:0001819	synonymous_variant	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:115200370C>A	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.15C>A	2.37:g.115200370C>A							p.A5A	NM_020868	NP_065919	Q8N608	DPP10_HUMAN			1	472	+			5			Mediates effects on KCND2.|Cytoplasmic (Potential).		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Silent	SNP	ENST00000410059.1	37	c.15C>A	CCDS46400.1																																																																																				0.468	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		15	47	1	0	3.33e-07	3.98e-07	15	47				
LIMS2	55679	broad.mit.edu	37	2	128414981	128414981	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:128414981T>G	ENST00000355119.4	-	2	332	c.167A>C	c.(166-168)tAt>tCt	p.Y56S	LIMS2_ENST00000409808.2_Missense_Mutation_p.Y51S|LIMS2_ENST00000409455.1_Missense_Mutation_p.Y51S|LIMS2_ENST00000545738.2_Missense_Mutation_p.Y78S|LIMS2_ENST00000410011.1_Missense_Mutation_p.Y51S|LIMS2_ENST00000324938.5_Missense_Mutation_p.Y80S	NM_001161403.1	NP_001154875.1	Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	56	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of neural precursor cell proliferation (GO:2000178)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		CCTCACCTCATAGAAGAGCCC	0.627																																						uc002tpa.2		NA																	0					0						c.(166-168)TAT>TCT		LIM and senescent cell antigen-like domains 2							71.0	67.0	68.0					2																	128414981		2203	4300	6503	SO:0001583	missense	55679				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding	g.chr2:128414981T>G	AF520987	CCDS2147.1, CCDS54394.1, CCDS54395.1, CCDS54396.1, CCDS58725.1	2q21.1	2008-02-05			ENSG00000072163	ENSG00000072163			16084	protein-coding gene	gene with protein product		607908					Standard	NM_017980		Approved		uc002tox.3	Q7Z4I7	OTTHUMG00000131529	ENST00000355119.4:c.167A>C	2.37:g.128414981T>G	ENSP00000347240:p.Tyr56Ser					LIMS2_uc002tox.2_Missense_Mutation_p.Y80S|LIMS2_uc010fmb.2_5'UTR|LIMS2_uc002toy.2_Missense_Mutation_p.Y51S|LIMS2_uc010yzm.1_Missense_Mutation_p.Y78S|LIMS2_uc002toz.2_Missense_Mutation_p.Y51S|LIMS2_uc002tpb.2_Missense_Mutation_p.Y51S	p.Y56S	NM_001161403	NP_001154875	Q7Z4I7	LIMS2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0681)	2	333	-	Colorectal(110;0.1)		56			LIM zinc-binding 1.		A6NLH0|B4DMV1|F5H6E6|Q7Z4I2|Q7Z4I6|Q7Z4I8|Q8NFE7|Q9HA13	Missense_Mutation	SNP	ENST00000355119.4	37	c.167A>C	CCDS54395.1	.	.	.	.	.	.	.	.	.	.	.	23.5	4.424333	0.83667	.	.	ENSG00000072163	ENST00000545738;ENST00000355119;ENST00000324938;ENST00000409455;ENST00000410109;ENST00000409808;ENST00000410011;ENST00000544917;ENST00000422034	D;D;D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37;-2.37;-2.37	5.25	5.25	0.73442	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.94095	0.8107	M	0.77406	2.37	0.80722	D	1	D;D;D	0.76494	0.975;0.997;0.999	P;D;D	0.80764	0.804;0.989;0.994	D	0.94762	0.7937	10	0.72032	D	0.01	.	15.1498	0.72689	0.0:0.0:0.0:1.0	.	78;56;80	F5H6E6;Q7Z4I7;Q7Z4I7-2	.;LIMS2_HUMAN;.	S	78;56;80;51;51;51;51;78;51	ENSP00000443794:Y78S;ENSP00000347240:Y56S;ENSP00000326888:Y80S;ENSP00000386383:Y51S;ENSP00000386637:Y51S;ENSP00000387002:Y51S	ENSP00000326888:Y80S	Y	-	2	0	LIMS2	128131451	1.000000	0.71417	0.998000	0.56505	0.776000	0.43924	7.926000	0.87569	1.982000	0.57802	0.379000	0.24179	TAT		0.627	LIMS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331133.2	NM_017980		55	105	0	0	0	0	55	105				
CXCR4	7852	broad.mit.edu	37	2	136872794	136872794	+	Missense_Mutation	SNP	C	C	G	rs377287446		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:136872794C>G	ENST00000241393.3	-	2	808	c.704G>C	c.(703-705)cGc>cCc	p.R235P	CXCR4_ENST00000466288.1_5'UTR|CXCR4_ENST00000409817.1_Missense_Mutation_p.R239P	NM_003467.2	NP_003458.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	235					activation of MAPK activity (GO:0000187)|ameboidal cell migration (GO:0001667)|apoptotic process (GO:0006915)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular response to cytokine stimulus (GO:0071345)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|germ cell development (GO:0007281)|germ cell migration (GO:0008354)|inflammatory response (GO:0006954)|motor neuron axon guidance (GO:0008045)|myelin maintenance (GO:0043217)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|neutrophil activation (GO:0042119)|patterning of blood vessels (GO:0001569)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of chemotaxis (GO:0050920)|response to hypoxia (GO:0001666)|response to virus (GO:0009615)|T cell proliferation (GO:0042098)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|G-protein coupled receptor activity (GO:0004930)|myosin light chain binding (GO:0032027)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|virus receptor activity (GO:0001618)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)|Plerixafor(DB06809)	GAGGGCCTTGCGCTTCTGGTG	0.522																																						uc002tuz.2		NA																	0				upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)	3						c.(703-705)CGC>CCC		chemokine (C-X-C motif) receptor 4 isoform b	Framycetin(DB00452)						169.0	155.0	160.0					2																	136872794		2203	4300	6503	SO:0001583	missense	7852				activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding	g.chr2:136872794C>G	AF005058	CCDS33295.1, CCDS46420.1	2q21	2014-09-17	2002-08-22		ENSG00000121966	ENSG00000121966		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	2561	protein-coding gene	gene with protein product		162643	"""chemokine (C-X-C motif), receptor 4 (fusin)"""			9599023, 9379028	Standard	NM_001008540		Approved	LESTR, NPY3R, HM89, NPYY3R, D2S201E, fusin, HSY3RR, NPYR, CD184	uc002tuz.3	P61073	OTTHUMG00000153583	ENST00000241393.3:c.704G>C	2.37:g.136872794C>G	ENSP00000241393:p.Arg235Pro					CXCR4_uc002tuy.2_Missense_Mutation_p.R239P|CXCR4_uc010fnk.2_Missense_Mutation_p.R220P	p.R235P	NM_003467	NP_003458	P61073	CXCR4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.155)	2	799	-			235			Cytoplasmic.		B2R5N0|O60835|P30991|P56438|Q53S69|Q9BXA0|Q9UKN2	Missense_Mutation	SNP	ENST00000241393.3	37	c.704G>C	CCDS46420.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.374904	0.61735	.	.	ENSG00000121966	ENST00000409817;ENST00000241393;ENST00000537957	T;T	0.73897	-0.79;-0.79	6.17	6.17	0.99709	GPCR, rhodopsin-like superfamily (1);	0.092545	0.64402	D	0.000001	D	0.89068	0.6610	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.71656	0.972;0.974	D	0.88953	0.3388	10	0.59425	D	0.04	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	235;239	P61073;P61073-2	CXCR4_HUMAN;.	P	239;235;105	ENSP00000386884:R239P;ENSP00000241393:R235P	ENSP00000241393:R235P	R	-	2	0	CXCR4	136589264	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.686000	0.61700	2.941000	0.99782	0.655000	0.94253	CGC		0.522	CXCR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331732.1			100	173	0	0	0	0	100	173				
THSD7B	80731	broad.mit.edu	37	2	138376011	138376011	+	Silent	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:138376011C>T	ENST00000409968.1	+	19	3793	c.3615C>T	c.(3613-3615)gtC>gtT	p.V1205V	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Silent_p.V1177V|THSD7B_ENST00000272643.3_Silent_p.V1208V			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1207	TSP type-1 15. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GTCAAGGCGTCAGGACCCGCC	0.507																																						uc002tva.1		NA																	0				ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(3526-3528)GTC>GTT		thrombospondin, type I, domain containing 7B							94.0	108.0	103.0					2																	138376011		2125	4237	6362	SO:0001819	synonymous_variant	80731							g.chr2:138376011C>T			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.3615C>T	2.37:g.138376011C>T						THSD7B_uc010zbj.1_Intron	p.V1176V	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	18	3528	+									Silent	SNP	ENST00000409968.1	37	c.3528C>T																																																																																					0.507	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		6	42	0	0	0	0	6	42				
NR4A2	4929	broad.mit.edu	37	2	157182511	157182511	+	Splice_Site	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:157182511C>A	ENST00000339562.4	-	8	1904	c.1542G>T	c.(1540-1542)gaG>gaT	p.E514D	NR4A2_ENST00000539077.1_Splice_Site_p.E525D|NR4A2_ENST00000429376.1_Splice_Site_p.E417*|NR4A2_ENST00000426264.1_Splice_Site_p.E451D|NR4A2_ENST00000409108.2_Splice_Site_p.E480*|NR4A2_ENST00000409572.1_Splice_Site_p.E514D	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	514					adult locomotory behavior (GO:0008344)|cellular response to extracellular stimulus (GO:0031668)|cellular response to oxidative stress (GO:0034599)|central nervous system projection neuron axonogenesis (GO:0021952)|death (GO:0016265)|dopamine biosynthetic process (GO:0042416)|dopaminergic neuron differentiation (GO:0071542)|gene expression (GO:0010467)|general adaptation syndrome (GO:0051866)|habenula development (GO:0021986)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron apoptotic process (GO:0043524)|neuron maturation (GO:0042551)|neuron migration (GO:0001764)|positive regulation of catalytic activity (GO:0043085)|post-embryonic development (GO:0009791)|regulation of dopamine metabolic process (GO:0042053)|regulation of respiratory gaseous exchange (GO:0043576)|response to amphetamine (GO:0001975)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to insecticide (GO:0017085)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						GCCCGTGTCTCTCTGCAGAAA	0.423																																						uc002tyz.3		NA																	0				ovary(3)	3						c.(1540-1542)GAG>GAT		nuclear receptor subfamily 4, group A, member 2							79.0	78.0	78.0					2																	157182511		2203	4300	6503	SO:0001630	splice_region_variant	4929				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr2:157182511C>A	X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234		"""Nuclear hormone receptors"""	7981	protein-coding gene	gene with protein product		601828		NURR1		7706727	Standard	NM_006186		Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.1541-1G>T	2.37:g.157182511C>A						NR4A2_uc002tyx.3_Missense_Mutation_p.E451D|NR4A2_uc010zcf.1_Missense_Mutation_p.E514D	p.E514D	NM_006186	NP_006177	P43354	NR4A2_HUMAN			8	1964	-			514					Q16311|Q53RZ2|Q6NXU0	Missense_Mutation	SNP	ENST00000339562.4	37	c.1542G>T	CCDS2201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.082835|4.082835	0.76642|0.76642	.|.	.|.	ENSG00000153234|ENSG00000153234	ENST00000339562;ENST00000426264;ENST00000409572;ENST00000539077|ENST00000409108;ENST00000429376	T;T;T;T|.	0.37058|.	1.22;1.22;1.22;1.22|.	6.06|6.06	6.06|6.06	0.98353|0.98353	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);|.	0.090345|0.090345	0.40469|0.40469	U|U	0.001090|0.001090	T|.	0.53222|.	0.1783|.	N|N	0.05619|0.05619	-0.005|-0.005	0.80722|0.80722	D|D	1|1	B|.	0.09022|.	0.002|.	B|.	0.17722|.	0.019|.	T|.	0.60403|.	-0.7270|.	10|.	0.02654|0.72032	T|D	1|0.01	.|.	20.6208|20.6208	0.99490|0.99490	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	514|.	P43354|.	NR4A2_HUMAN|.	D|X	514;451;514;525|480;417	ENSP00000344479:E514D;ENSP00000389986:E451D;ENSP00000386747:E514D;ENSP00000444925:E525D|.	ENSP00000344479:E514D|ENSP00000386993:E480X	E|E	-|-	3|1	2|0	NR4A2|NR4A2	156890757|156890757	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.919000|0.919000	0.55068|0.55068	3.861000|3.861000	0.56002|0.56002	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GAG|GAG		0.423	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254909.2		Missense_Mutation	9	62	1	0	0.000274275	0.000299902	9	62				
LRP2	4036	broad.mit.edu	37	2	170063612	170063612	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:170063612C>A	ENST00000263816.3	-	39	6903	c.6618G>T	c.(6616-6618)tgG>tgT	p.W2206C		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2206					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CATAGTCAGCCCAGAAGAGGT	0.483																																						uc002ues.2		NA																	0				ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(6616-6618)TGG>TGT		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						161.0	151.0	154.0					2																	170063612		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170063612C>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.6618G>T	2.37:g.170063612C>A	ENSP00000263816:p.Trp2206Cys						p.W2206C	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	39	6831	-			2206			LDL-receptor class B 22.|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.6618G>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.370958	0.82573	.	.	ENSG00000081479	ENST00000263816	D	0.99789	-6.75	5.98	5.98	0.97165	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.99891	0.9948	H	0.97962	4.115	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96602	0.9445	10	0.87932	D	0	.	20.4581	0.99154	0.0:1.0:0.0:0.0	.	2206	P98164	LRP2_HUMAN	C	2206	ENSP00000263816:W2206C	ENSP00000263816:W2206C	W	-	3	0	LRP2	169771858	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.835000	0.97688	0.650000	0.86243	TGG		0.483	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		114	249	1	0	5.16e-52	7.85e-52	114	249				
ITGA6	3655	broad.mit.edu	37	2	173333907	173333907	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:173333907C>G	ENST00000264106.6	+	4	645	c.442C>G	c.(442-444)Cga>Gga	p.R148G	ITGA6_ENST00000343713.4_Missense_Mutation_p.R148G|ITGA6_ENST00000409080.1_Missense_Mutation_p.R148G|ITGA6_ENST00000375221.2_Missense_Mutation_p.R148G|ITGA6_ENST00000264107.7_Missense_Mutation_p.R148G|ITGA6_ENST00000409532.1_Missense_Mutation_p.R34G			P23229	ITA6_HUMAN	integrin, alpha 6	148					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			GCAGGAATCCCGAGACATCTT	0.458																																						uc002uhp.1		NA																	0				ovary(1)|lung(1)	2						c.(442-444)CGA>GGA		integrin alpha chain, alpha 6 isoform a							157.0	152.0	153.0					2																	173333907		2203	4300	6503	SO:0001583	missense	3655				blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity	g.chr2:173333907C>G		CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"""CD molecules"", ""Integrins"""	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.442C>G	2.37:g.173333907C>G	ENSP00000264106:p.Arg148Gly					ITGA6_uc010fqk.1_Missense_Mutation_p.R34G|ITGA6_uc010zdy.1_Missense_Mutation_p.R34G|ITGA6_uc002uho.1_Missense_Mutation_p.R148G|ITGA6_uc010fql.2_5'Flank	p.R148G	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0979)		4	645	+			148			Extracellular (Potential).|FG-GAP 2.		B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP	ENST00000264106.6	37	c.442C>G		.	.	.	.	.	.	.	.	.	.	C	23.8	4.462395	0.84425	.	.	ENSG00000091409	ENST00000412899;ENST00000409532;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358	T;T;T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95	5.99	5.99	0.97316	.	0.057032	0.64402	D	0.000001	T	0.71013	0.3290	M	0.85041	2.73	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.77004	0.971;0.989;0.985	T	0.73783	-0.3874	10	0.87932	D	0	.	20.4777	0.99188	0.0:1.0:0.0:0.0	.	148;148;148	P23229-4;G5E9H1;P23229-2	.;.;.	G	34;34;148;148;148;148;148;148;148	ENSP00000413470:R34G;ENSP00000386614:R34G;ENSP00000264107:R148G;ENSP00000264106:R148G;ENSP00000364369:R148G;ENSP00000341078:R148G;ENSP00000386896:R148G;ENSP00000406694:R148G;ENSP00000394169:R148G	ENSP00000264106:R148G	R	+	1	2	ITGA6	173042153	0.995000	0.38212	0.998000	0.56505	0.998000	0.95712	3.268000	0.51585	2.840000	0.97914	0.655000	0.94253	CGA		0.458	ITGA6-201	KNOWN	basic	protein_coding	protein_coding				56	374	0	0	0	0	56	374				
TTN	7273	broad.mit.edu	37	2	179529453	179529453	+	Intron	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:179529453G>T	ENST00000591111.1	-	153	34489				TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.L12044I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTTCTTGGAGAGCTTCAGGC	0.383																																						uc010zfk.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.(568-570)CTC>ATC		SubName: Full=Titin; Flags: Fragment;							54.0	52.0	52.0					2																	179529453		876	1991	2867	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179529453G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.34264+5491C>A	2.37:g.179529453G>T						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron	p.L190I			Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		12	1116	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.568C>A		.	.	.	.	.	.	.	.	.	.	G	10.74	1.434316	0.25813	.	.	ENSG00000155657	ENST00000541862;ENST00000392423	.	.	.	4.4	-1.21	0.09524	.	.	.	.	.	T	0.17408	0.0418	.	.	.	0.09310	N	1	B	0.22604	0.072	B	0.18871	0.023	T	0.22906	-1.0203	7	0.24483	T	0.36	.	2.5545	0.04756	0.2389:0.1254:0.5074:0.1282	.	318	Q71S18	.	I	318;170	.	ENSP00000376219:L170I	L	-	1	0	TTN	179237698	0.000000	0.05858	0.000000	0.03702	0.774000	0.43823	-0.240000	0.08952	-0.039000	0.13602	0.650000	0.86243	CTC		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		41	26	1	0	3.55e-21	5e-21	41	26				
TTN	7273	broad.mit.edu	37	2	179593122	179593122	+	Missense_Mutation	SNP	G	G	T	rs368695139		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:179593122G>T	ENST00000591111.1	-	65	18702	c.18478C>A	c.(18478-18480)Caa>Aaa	p.Q6160K	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.Q5233K|TTN_ENST00000589042.1_Missense_Mutation_p.Q6477K|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12943					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)			GGAATATTTTGATCTGTCCAA	0.373																																						uc010zfg.1		NA																	0		p.E5233K(1)		ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(15697-15699)CAA>AAA		titin isoform N2-A							59.0	53.0	55.0					2																	179593122		1835	4092	5927	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179593122G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.18478C>A	2.37:g.179593122G>T	ENSP00000465570:p.Gln6160Lys					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.Q1894K	p.Q5233K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		64	15921	-			6160					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.15697C>A		.	.	.	.	.	.	.	.	.	.	G	10.22	1.291471	0.23564	.	.	ENSG00000155657	ENST00000342992	T	0.38077	1.16	5.87	-2.61	0.06171	Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.29976	0.0750	N	0.17674	0.51	0.80722	D	1	B	0.18166	0.026	B	0.21917	0.037	T	0.33979	-0.9847	9	0.87932	D	0	.	24.661	0.99991	0.0:0.67:0.33:0.0	.	6160	Q8WZ42	TITIN_HUMAN	K	5233	ENSP00000343764:Q5233K	ENSP00000343764:Q5233K	Q	-	1	0	TTN	179301367	1.000000	0.71417	0.982000	0.44146	0.995000	0.86356	2.202000	0.42743	-0.331000	0.08501	-0.211000	0.12701	CAA		0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		13	14	1	0	9.05e-12	1.17e-11	13	14				
ZNF804A	91752	broad.mit.edu	37	2	185803442	185803442	+	Missense_Mutation	SNP	G	G	T	rs193000214		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:185803442G>T	ENST00000302277.6	+	4	3913	c.3319G>T	c.(3319-3321)Gct>Tct	p.A1107S		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1107							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						gcagcagcacgctgcagctgc	0.547																																						uc002uph.2		NA																	0				ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(3319-3321)GCT>TCT		zinc finger protein 804A							61.0	65.0	64.0					2																	185803442		2203	4300	6503	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185803442G>T	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.3319G>T	2.37:g.185803442G>T	ENSP00000303252:p.Ala1107Ser						p.A1107S	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	3913	+			1107					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.3319G>T	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.049981	0.36181	.	.	ENSG00000170396	ENST00000302277	T	0.24538	1.85	4.42	4.42	0.53409	.	.	.	.	.	T	0.47820	0.1466	M	0.74881	2.28	0.29008	N	0.887032	D	0.67145	0.996	D	0.64410	0.925	T	0.43972	-0.9358	9	0.72032	D	0.01	-5.5693	11.3102	0.49360	0.0:0.0:0.8181:0.1819	.	1107	Q7Z570	Z804A_HUMAN	S	1107	ENSP00000303252:A1107S	ENSP00000303252:A1107S	A	+	1	0	ZNF804A	185511687	1.000000	0.71417	0.559000	0.28332	0.262000	0.26303	6.452000	0.73485	1.991000	0.58162	0.305000	0.20034	GCT		0.547	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		22	22	1	0	1.27e-14	1.69e-14	22	22				
ZNF804A	91752	broad.mit.edu	37	2	185803545	185803545	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:185803545C>A	ENST00000302277.6	+	4	4016	c.3422C>A	c.(3421-3423)aCc>aAc	p.T1141N		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1141							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CTCACCAGAACCTCATTACCT	0.537																																						uc002uph.2		NA																	0				ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(3421-3423)ACC>AAC		zinc finger protein 804A							160.0	153.0	155.0					2																	185803545		2203	4300	6503	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185803545C>A	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.3422C>A	2.37:g.185803545C>A	ENSP00000303252:p.Thr1141Asn						p.T1141N	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	4016	+			1141					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.3422C>A	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.398023	0.62177	.	.	ENSG00000170396	ENST00000302277	T	0.06608	3.28	5.03	5.03	0.67393	.	0.133463	0.33875	N	0.004472	T	0.17280	0.0415	L	0.54323	1.7	0.34437	D	0.699223	D	0.64830	0.994	P	0.56474	0.799	T	0.06092	-1.0846	10	0.59425	D	0.04	-16.5943	17.3508	0.87323	0.0:1.0:0.0:0.0	.	1141	Q7Z570	Z804A_HUMAN	N	1141	ENSP00000303252:T1141N	ENSP00000303252:T1141N	T	+	2	0	ZNF804A	185511790	0.991000	0.36638	0.994000	0.49952	0.952000	0.60782	3.676000	0.54612	2.322000	0.78497	0.313000	0.20887	ACC		0.537	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		79	75	1	0	9.43e-34	1.4e-33	79	75				
ERBB4	2066	broad.mit.edu	37	2	212488770	212488770	+	Splice_Site	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:212488770C>A	ENST00000342788.4	-	18	2390		c.e18-1		ERBB4_ENST00000436443.1_Splice_Site|ERBB4_ENST00000402597.1_Splice_Site	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4						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)	GTTCCACCAACTGCAAAGCGG	0.448										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.e18-1		v-erb-a erythroblastic leukemia viral oncogene							97.0	94.0	95.0					2																	212488770		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.chr2:212488770C>A	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.2080-1G>T	2.37:g.212488770C>A		TSP Lung(8;0.080)				ERBB4_uc002veh.1_Splice_Site_p.L694_splice|ERBB4_uc010zji.1_Splice_Site_p.L684_splice|ERBB4_uc010zjj.1_Splice_Site_p.L684_splice|ERBB4_uc010fut.1_Splice_Site_p.L694_splice	p.L694_splice	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)	18	2178	-		Renal(323;0.06)|Lung NSC(271;0.197)						B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Splice_Site	SNP	ENST00000342788.4	37	c.2080_splice	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.726867	0.89390	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597;ENST00000260943	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3368	0.98748	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ERBB4	212197015	1.000000	0.71417	0.414000	0.26521	0.868000	0.49771	7.794000	0.85869	2.805000	0.96524	0.655000	0.94253	.		0.448	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599	Intron	47	39	1	0	1.83e-24	2.64e-24	47	39				
ABCB6	10058	broad.mit.edu	37	2	220083227	220083227	+	Missense_Mutation	SNP	C	C	A	rs387906911		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:220083227C>A	ENST00000265316.3	-	1	485	c.169G>T	c.(169-171)Gct>Tct	p.A57S	ABCB6_ENST00000439002.2_Missense_Mutation_p.A57S	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	57			A -> T (in MCOPCB7; hypomorphic mutation). {ECO:0000269|PubMed:22226084}.		brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|porphyrin-containing compound biosynthetic process (GO:0006779)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial envelope (GO:0005740)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|efflux transmembrane transporter activity (GO:0015562)|heme binding (GO:0020037)|heme transporter activity (GO:0015232)|heme-transporting ATPase activity (GO:0015439)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCAGCACCAGCGGGCCGCTCC	0.687																																						uc002vkc.1		NA																	0				breast(1)|central_nervous_system(1)	2						c.(169-171)GCT>TCT		ATP-binding cassette, sub-family B, member 6							12.0	17.0	15.0					2																	220083227		2189	4281	6470	SO:0001583	missense	10058				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity	g.chr2:220083227C>A	AF070598	CCDS2436.1	2q36	2014-08-27	2014-08-27		ENSG00000115657	ENSG00000115657		"""ATP binding cassette transporters / subfamily B"""	47	protein-coding gene	gene with protein product	"""ATP-binding cassette half-transporter"""	605452	"""ATP-binding cassette, sub-family B (MDR/TAP), member 6"""			8894702, 9110174	Standard	NM_005689		Approved	EST45597, umat, MTABC3	uc002vkc.2	Q9NP58	OTTHUMG00000133131	ENST00000265316.3:c.169G>T	2.37:g.220083227C>A	ENSP00000265316:p.Ala57Ser					ABCB6_uc010fwe.1_Missense_Mutation_p.A57S|ABCB6_uc010zku.1_RNA|ATG9A_uc002vkd.1_RNA	p.A57S	NM_005689	NP_005680	Q9NP58	ABCB6_HUMAN		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	1	446	-		Renal(207;0.0474)	57					O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Missense_Mutation	SNP	ENST00000265316.3	37	c.169G>T	CCDS2436.1	.	.	.	.	.	.	.	.	.	.	C	1.829	-0.470327	0.04445	.	.	ENSG00000115657	ENST00000265316;ENST00000439002;ENST00000427013	T;T	0.74947	-0.89;-0.89	5.21	-1.07	0.09968	.	0.446505	0.25845	N	0.027938	T	0.41328	0.1154	N	0.08118	0	0.09310	N	0.999992	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.17715	-1.0360	10	0.09590	T	0.72	1.2119	2.0331	0.03534	0.1202:0.4291:0.1169:0.3338	.	57;57	Q9NP58-4;Q9NP58	.;ABCB6_HUMAN	S	57	ENSP00000265316:A57S;ENSP00000394333:A57S	ENSP00000265316:A57S	A	-	1	0	ABCB6	219791471	0.000000	0.05858	0.000000	0.03702	0.074000	0.17049	-0.018000	0.12568	-0.136000	0.11475	0.591000	0.81541	GCT		0.687	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256820.2	NM_005689		8	11	1	0	3.1e-07	3.71e-07	8	11				
NRSN2	80023	broad.mit.edu	37	20	330327	330327	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr20:330327G>T	ENST00000382291.3	+	3	280	c.40G>T	c.(40-42)Ggc>Tgc	p.G14C	NRSN2_ENST00000382285.2_Missense_Mutation_p.G14C|NRSN2_ENST00000492242.1_Intron|NRSN2_ENST00000608736.1_Missense_Mutation_p.G14C|RP5-1103G7.4_ENST00000442637.1_RNA	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	14						integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				CTGCAGCCGCGGCCCCAGCGT	0.632																																						uc002wdi.3		NA																	0					0						c.(40-42)GGC>TGC		neurensin 2							48.0	45.0	46.0					20																	330327		2203	4300	6503	SO:0001583	missense	80023					integral to membrane|plasma membrane|transport vesicle		g.chr20:330327G>T	AL136915	CCDS12996.1	20p13	2008-02-04	2006-07-04	2006-07-04	ENSG00000125841	ENSG00000125841			16229	protein-coding gene	gene with protein product		610666	"""chromosome 20 open reading frame 98"""	C20orf98		16527258	Standard	NM_024958		Approved	dJ1103G7.6	uc002wdi.4	Q9GZP1	OTTHUMG00000031628	ENST00000382291.3:c.40G>T	20.37:g.330327G>T	ENSP00000371728:p.Gly14Cys					NRSN2_uc002wdj.2_Intron|NRSN2_uc002wdl.2_Missense_Mutation_p.G13C	p.G14C	NM_024958	NP_079234	Q9GZP1	NRSN2_HUMAN			3	578	+		all_cancers(10;0.0834)	14					A8K3B2|Q6FII5|Q9NUD3	Missense_Mutation	SNP	ENST00000382291.3	37	c.40G>T	CCDS12996.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.705945	0.30232	.	.	ENSG00000125841	ENST00000382291;ENST00000382285	T;T	0.18960	2.18;2.18	4.31	2.32	0.28847	.	0.238888	0.32578	N	0.005901	T	0.33585	0.0868	L	0.59436	1.845	0.25060	N	0.991075	D	0.76494	0.999	D	0.65233	0.933	T	0.07443	-1.0772	10	0.72032	D	0.01	-14.3975	5.7275	0.18020	0.1088:0.1981:0.693:0.0	.	14	Q9GZP1	NRSN2_HUMAN	C	14	ENSP00000371728:G14C;ENSP00000371722:G14C	ENSP00000371722:G14C	G	+	1	0	NRSN2	278327	0.595000	0.26857	0.080000	0.20451	0.239000	0.25481	0.788000	0.26872	0.427000	0.26145	0.643000	0.83706	GGC		0.632	NRSN2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077446.1	NM_024958		27	48	1	0	3.93e-24	5.66e-24	27	48				
SIRPB1	10326	broad.mit.edu	37	20	1552462	1552462	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr20:1552462C>T	ENST00000381605.4	-	3	719	c.655G>A	c.(655-657)Ggg>Agg	p.G219R	RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000262929.5_Intron|SIRPB1_ENST00000381603.3_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	219	Ig-like C1-type 1.				cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						TGAACGTCCCCACGGGTCAGC	0.582																																						uc010gai.2		NA																	0				ovary(1)	1						c.(655-657)GGG>AGG		signal-regulatory protein beta 1 isoform 1							163.0	142.0	149.0					20																	1552462		2203	4300	6503	SO:0001583	missense	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1552462C>T	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.655G>A	20.37:g.1552462C>T	ENSP00000371018:p.Gly219Arg					SIRPB1_uc002wfk.3_Intron	p.G219R	NM_006065	NP_006056	O00241	SIRB1_HUMAN			3	754	-			219			Ig-like C1-type 1.|Extracellular (Potential).		A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	c.655G>A	CCDS13019.1	.	.	.	.	.	.	.	.	.	.	.	0.033	-1.321579	0.01320	.	.	ENSG00000101307	ENST00000381605	T	0.00599	6.3	2.47	-3.41	0.04839	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	1.209280	0.05797	N	0.611406	T	0.00815	0.0027	M	0.75264	2.295	0.09310	N	1	B	0.22080	0.064	B	0.29077	0.098	T	0.44757	-0.9307	10	0.20519	T	0.43	.	3.6476	0.08191	0.1853:0.2978:0.0:0.5168	.	219	O00241	SIRB1_HUMAN	R	219	ENSP00000371018:G219R	ENSP00000371018:G219R	G	-	1	0	SIRPB1	1500462	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.050000	0.14120	-0.813000	0.04357	-2.791000	0.00116	GGG		0.582	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		63	131	0	0	0	0	63	131				
PDYN	5173	broad.mit.edu	37	20	1961152	1961152	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr20:1961152G>A	ENST00000217305.2	-	4	807	c.582C>T	c.(580-582)gaC>gaT	p.D194D	PDYN_ENST00000540134.1_Silent_p.D194D|RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000539905.1_Silent_p.D194D	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	194					cell death (GO:0008219)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.D194E(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGCTATCCCCGTCCCCCTCCC	0.592																																						uc010gaj.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(580-582)GAC>GAT		beta-neoendorphin-dynorphin preproprotein							90.0	100.0	96.0					20																	1961152		2203	4300	6503	SO:0001819	synonymous_variant	5173				cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	g.chr20:1961152G>A		CCDS13023.1	20p13	2014-09-17			ENSG00000101327	ENSG00000101327		"""Endogenous ligands"""	8820	protein-coding gene	gene with protein product	"""preproenkephalin B"", ""rimorphin"", ""beta-neoendorphin"", ""dynorphin"", ""leu-enkephalin"", ""leumorphin"", ""neoendorphin-dynorphin-enkephalin prepropeptide"""	131340	"""spinocerebellar ataxia 23"""	SCA23		21035104	Standard	NM_001190892		Approved	PENKB, ADCA	uc021vzs.1	P01213	OTTHUMG00000031683	ENST00000217305.2:c.582C>T	20.37:g.1961152G>A						uc002wfu.1_Intron|PDYN_uc002wfv.2_Silent_p.D194D|PDYN_uc010zpt.1_Silent_p.D39D	p.D194D	NM_024411	NP_077722	P01213	PDYN_HUMAN			3	824	-			194					A8K0Q3	Silent	SNP	ENST00000217305.2	37	c.582C>T	CCDS13023.1																																																																																				0.592	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077569.2			93	158	0	0	0	0	93	158				
PAK7	57144	broad.mit.edu	37	20	9561465	9561465	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr20:9561465G>A	ENST00000378429.3	-	5	863	c.317C>T	c.(316-318)cCc>cTc	p.P106L	PAK7_ENST00000353224.5_Missense_Mutation_p.P106L|PAK7_ENST00000378423.1_Missense_Mutation_p.P106L	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	106	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			ATCTGGGGTGGGTGGGCTTTC	0.542																																						uc002wnl.2		NA																	0				lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23						c.(316-318)CCC>CTC		p21-activated kinase 7							131.0	135.0	134.0					20																	9561465		2203	4300	6503	SO:0001583	missense	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9561465G>A	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.317C>T	20.37:g.9561465G>A	ENSP00000367686:p.Pro106Leu					PAK7_uc002wnk.2_Missense_Mutation_p.P106L|PAK7_uc002wnj.2_Missense_Mutation_p.P106L|PAK7_uc010gby.1_Missense_Mutation_p.P106L	p.P106L	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		5	862	-			106			Linker.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	ENST00000378429.3	37	c.317C>T	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.798761	0.70567	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.44482	0.92;0.92;0.92	5.58	5.58	0.84498	.	0.047074	0.85682	D	0.000000	T	0.42449	0.1203	L	0.55481	1.735	0.80722	D	1	B;B	0.15930	0.015;0.015	B;B	0.12156	0.007;0.007	T	0.20940	-1.0260	9	.	.	.	.	19.5642	0.95386	0.0:0.0:1.0:0.0	.	106;106	B0AZM9;Q9P286	.;PAK7_HUMAN	L	106;106;106;54	ENSP00000367686:P106L;ENSP00000322957:P106L;ENSP00000367679:P106L	.	P	-	2	0	PAK7	9509465	1.000000	0.71417	0.991000	0.47740	0.970000	0.65996	6.764000	0.74960	2.628000	0.89032	0.655000	0.94253	CCC		0.542	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			127	185	0	0	0	0	127	185				
MAFB	9935	broad.mit.edu	37	20	39317053	39317053	+	Silent	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr20:39317053C>A	ENST00000373313.2	-	1	827	c.438G>T	c.(436-438)ccG>ccT	p.P146P	MAFB_ENST00000396967.1_Silent_p.P146P	NM_005461.3	NP_005452.2	Q9Y5Q3	MAFB_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B	146					brain segmentation (GO:0035284)|inner ear morphogenesis (GO:0042472)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|respiratory gaseous exchange (GO:0007585)|rhombomere 5 development (GO:0021571)|rhombomere 6 development (GO:0021572)|segment specification (GO:0007379)|sensory organ development (GO:0007423)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			kidney(1)|large_intestine(1)	2		Myeloproliferative disorder(115;0.00878)				CGCCGGCGCCCGGGTACGCgt	0.716			T	IGH@	MM																																	uc002xji.2		NA		Dom	yes		20	20q11.2-q13.1	9935	T	v-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian)			L	IGH@		MM		0					0						c.(436-438)CCG>CCT		transcription factor MAFB							8.0	11.0	10.0					20																	39317053		2143	4228	6371	SO:0001819	synonymous_variant	9935				negative regulation of erythrocyte differentiation		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr20:39317053C>A	AF134157	CCDS13311.1	20q11.1-q13.1	2013-07-09	2013-07-09	2001-11-30	ENSG00000204103	ENSG00000204103			6408	protein-coding gene	gene with protein product		608968	"""Kreisler (mouse) maf-related leucine zipper homolog"""	KRML		10444328	Standard	NM_005461		Approved		uc002xji.3	Q9Y5Q3	OTTHUMG00000033052	ENST00000373313.2:c.438G>T	20.37:g.39317053C>A							p.P146P	NM_005461	NP_005452	Q9Y5Q3	MAFB_HUMAN			1	824	-		Myeloproliferative disorder(115;0.00878)	146					B3KNE1|Q9H1F1	Silent	SNP	ENST00000373313.2	37	c.438G>T	CCDS13311.1																																																																																				0.716	MAFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080375.2			13	14	1	0	2.63e-14	3.48e-14	13	14				
ZNF831	128611	broad.mit.edu	37	20	57767409	57767409	+	Silent	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr20:57767409C>A	ENST00000371030.2	+	1	1335	c.1335C>A	c.(1333-1335)ccC>ccA	p.P445P		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	445							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGCCCACGCCCTACACCTACA	0.682																																						uc002yan.2		NA																	0				skin(13)|ovary(1)	14						c.(1333-1335)CCC>CCA		zinc finger protein 831							33.0	40.0	37.0					20																	57767409		2074	4186	6260	SO:0001819	synonymous_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57767409C>A	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.1335C>A	20.37:g.57767409C>A							p.P445P	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			1	1335	+	all_lung(29;0.0085)		445					Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	c.1335C>A	CCDS42894.1																																																																																				0.682	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		15	71	1	0	7.93e-07	9.35e-07	15	71				
LAMA5	3911	broad.mit.edu	37	20	60905980	60905980	+	Missense_Mutation	SNP	C	C	G	rs199705213		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr20:60905980C>G	ENST00000252999.3	-	30	3737	c.3671G>C	c.(3670-3672)cGc>cCc	p.R1224P	MIR4758_ENST00000577688.1_RNA	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1224	Domain IV 1 (domain IV B).				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CTTTGGGAAGCGCGAGGGCAG	0.721																																						uc002ycq.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(3670-3672)CGC>CCC		laminin alpha 5 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						15.0	20.0	18.0					20																	60905980		2090	4111	6201	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60905980C>G	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.3671G>C	20.37:g.60905980C>G	ENSP00000252999:p.Arg1224Pro						p.R1224P	NM_005560	NP_005551	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		30	3738	-	Breast(26;1.57e-08)		1224			Domain IV 1 (domain IV B).		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.3671G>C	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158710	0.78226	.	.	ENSG00000130702	ENST00000252999	T	0.19394	2.15	5.02	5.02	0.67125	.	0.000000	0.85682	U	0.000000	T	0.43986	0.1272	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.17167	-1.0378	10	0.34782	T	0.22	.	18.3135	0.90208	0.0:1.0:0.0:0.0	.	1224	O15230	LAMA5_HUMAN	P	1224	ENSP00000252999:R1224P	ENSP00000252999:R1224P	R	-	2	0	LAMA5	60339375	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	4.731000	0.62022	2.315000	0.78130	0.561000	0.74099	CGC		0.721	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		2	5	0	0	0	0	2	5				
TPTE	7179	broad.mit.edu	37	21	10944708	10944708	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr21:10944708A>G	ENST00000361285.4	-	11	855	c.526T>C	c.(526-528)Tac>Cac	p.Y176H	TPTE_ENST00000298232.7_Missense_Mutation_p.Y158H|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.Y138H	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	176					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAAAAAATGTAAACGACATCA	0.294																																						uc002yip.1		NA																	0				ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(526-528)TAC>CAC		transmembrane phosphatase with tensin homology							166.0	175.0	172.0					21																	10944708		2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10944708A>G	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.526T>C	21.37:g.10944708A>G	ENSP00000355208:p.Tyr176His					TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.Y158H|TPTE_uc002yir.1_Missense_Mutation_p.Y138H|TPTE_uc010gkv.1_Missense_Mutation_p.Y38H	p.Y176H	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	11	894	-			176			Helical; (Potential).		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.526T>C	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	13.61	2.288551	0.40494	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.98493	-4.96;-4.96;-4.96	2.31	2.31	0.28768	Ion transport (1);	0.000000	0.64402	U	0.000001	D	0.98194	0.9403	M	0.73217	2.22	0.36771	D	0.883817	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.994;0.994;0.995	D	0.98559	1.0640	10	0.87932	D	0	-9.8702	6.5921	0.22651	1.0:0.0:0.0:0.0	.	138;158;176	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	H	158;176;138	ENSP00000298232:Y158H;ENSP00000355208:Y176H;ENSP00000344441:Y138H	ENSP00000298232:Y158H	Y	-	1	0	TPTE	9966579	0.470000	0.25854	0.016000	0.15963	0.070000	0.16714	3.632000	0.54287	1.303000	0.44873	0.163000	0.16589	TAC		0.294	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			27	308	0	0	0	0	27	308				
HSPA13	6782	broad.mit.edu	37	21	15748099	15748099	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr21:15748099C>A	ENST00000285667.3	-	4	689	c.622G>T	c.(622-624)Gct>Tct	p.A208S	HSPA13_ENST00000478035.1_5'Flank|HSPA13_ENST00000544452.1_5'UTR	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	208						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						TAGGCCATAGCTGCTGCTGTG	0.443																																						uc002yjt.2		NA																	0				kidney(1)	1						c.(622-624)GCT>TCT		heat shock protein 70kDa family member 13							121.0	113.0	116.0					21																	15748099		2203	4300	6503	SO:0001583	missense	6782					endoplasmic reticulum|microsome	ATP binding	g.chr21:15748099C>A		CCDS13567.1	21q11.1	2011-09-02	2008-06-17	2008-06-17	ENSG00000155304	ENSG00000155304		"""Heat shock proteins / HSP70"""	11375	protein-coding gene	gene with protein product		601100	"""stress 70 protein chaperone, microsome-associated, 60kD"", ""stress 70 protein chaperone, microsome-associated, 60kDa"""	STCH		8825657	Standard	NM_006948		Approved		uc002yjt.3	P48723	OTTHUMG00000074261	ENST00000285667.3:c.622G>T	21.37:g.15748099C>A	ENSP00000285667:p.Ala208Ser					HSPA13_uc011abx.1_5'UTR	p.A208S	NM_006948	NP_008879	P48723	HSP13_HUMAN			4	691	-			208					B2R616|Q8NE40	Missense_Mutation	SNP	ENST00000285667.3	37	c.622G>T	CCDS13567.1	.	.	.	.	.	.	.	.	.	.	C	32	5.129667	0.94473	.	.	ENSG00000155304	ENST00000285667	T	0.01304	5.03	5.85	5.85	0.93711	.	0.044222	0.85682	D	0.000000	T	0.08537	0.0212	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00780	-1.1569	10	0.87932	D	0	-16.3339	20.1624	0.98139	0.0:1.0:0.0:0.0	.	208	P48723	HSP13_HUMAN	S	208	ENSP00000285667:A208S	ENSP00000285667:A208S	A	-	1	0	HSPA13	14669970	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	7.704000	0.84595	2.775000	0.95449	0.637000	0.83480	GCT		0.443	HSPA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157815.1			50	94	1	0	1.63e-21	2.3e-21	50	94				
SAMSN1	64092	broad.mit.edu	37	21	15870888	15870888	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr21:15870888T>C	ENST00000400566.1	-	7	875	c.794A>G	c.(793-795)aAt>aGt	p.N265S	SAMSN1_ENST00000463807.1_5'UTR|SAMSN1_ENST00000400564.1_Missense_Mutation_p.N97S|SAMSN1_ENST00000285670.2_Missense_Mutation_p.N333S	NM_022136.4	NP_071419.3	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	265	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				negative regulation of adaptive immune response (GO:0002820)|negative regulation of B cell activation (GO:0050869)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)	cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)	phosphotyrosine binding (GO:0001784)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		CTCATAACCATTGAGCAAAAG	0.284																																						uc002yju.1		NA																	0				ovary(3)|pancreas(1)	4						c.(793-795)AAT>AGT		SAM domain, SH3 domain and nuclear localization							66.0	58.0	61.0					21																	15870888		1791	4061	5852	SO:0001583	missense	64092				negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding	g.chr21:15870888T>C	AF222927	CCDS42906.1, CCDS58786.1, CCDS74774.1	21q11	2013-01-10	2006-12-13		ENSG00000155307	ENSG00000155307		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	10528	protein-coding gene	gene with protein product	"""nuclear localization signals, SAM and SH3 domain containing 1"", ""SAM and SH3 domain containing 2"", ""hematopoietic adapter-containing SH3 and sterile &#945;-motif (SAM) domains 1"", ""Src homology domain 3 (SH3)-containing adapter protein SH3 lymphocyte protein 2"""	607978				11536050, 11594764	Standard	NM_022136		Approved	NASH1, SASH2, SH3D6B, HACS1, SLy2	uc002yjv.1	Q9NSI8	OTTHUMG00000074317	ENST00000400566.1:c.794A>G	21.37:g.15870888T>C	ENSP00000383411:p.Asn265Ser					SAMSN1_uc010gky.1_Missense_Mutation_p.N97S|SAMSN1_uc002yjv.1_Missense_Mutation_p.N333S	p.N265S	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)	7	876	-			265			SAM.		B3KWJ3|F8WAA1|Q8NFF7|Q9C041	Missense_Mutation	SNP	ENST00000400566.1	37	c.794A>G	CCDS42906.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.408398	0.83340	.	.	ENSG00000155307	ENST00000285670;ENST00000400566;ENST00000400564	D;D;D	0.84944	-1.92;-1.92;-1.92	5.9	5.9	0.94986	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.094597	0.64402	D	0.000001	D	0.93334	0.7875	M	0.87547	2.89	0.58432	D	0.999997	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.83275	0.987;0.996;0.995	D	0.94306	0.7541	10	0.87932	D	0	-37.8529	16.3245	0.82970	0.0:0.0:0.0:1.0	.	97;333;265	Q9NSI8-2;F8WAA1;Q9NSI8	.;.;SAMN1_HUMAN	S	333;265;97	ENSP00000285670:N333S;ENSP00000383411:N265S;ENSP00000383409:N97S	ENSP00000285670:N333S	N	-	2	0	SAMSN1	14792759	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.499000	0.81566	2.254000	0.74563	0.460000	0.39030	AAT		0.284	SAMSN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157914.1			35	101	0	0	0	0	35	101				
ADAMTS5	11096	broad.mit.edu	37	21	28338240	28338240	+	Silent	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr21:28338240C>A	ENST00000284987.5	-	1	592	c.471G>T	c.(469-471)gcG>gcT	p.A157A		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	157					defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CGTGCTTGACCGCGAAGAAGC	0.662																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	uc002ymg.2		NA																	0				upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						c.(469-471)GCG>GCT		ADAM metallopeptidase with thrombospondin type 1							26.0	26.0	26.0					21																	28338240		2201	4295	6496	SO:0001819	synonymous_variant	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28338240C>A	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.471G>T	21.37:g.28338240C>A							p.A157A	NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN			1	1200	-			157					Q52LV4|Q9UKP2	Silent	SNP	ENST00000284987.5	37	c.471G>T	CCDS13579.1																																																																																				0.662	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			9	44	1	0	0.00448238	0.00474928	9	44				
RWDD2B	10069	broad.mit.edu	37	21	30391545	30391545	+	Silent	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr21:30391545C>T	ENST00000493196.1	-	1	154	c.54G>A	c.(52-54)ggG>ggA	p.G18G	RWDD2B_ENST00000486719.1_5'UTR	NM_016940.2	NP_058636.1	P57060	RWD2B_HUMAN	RWD domain containing 2B	18										endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						GAGCCGTGGCCCCCTCACTGC	0.582																																						uc002yms.2		NA																	0					0						c.(52-54)GGG>GGA		RWD domain containing 2B							60.0	50.0	53.0					21																	30391545		2203	4300	6503	SO:0001819	synonymous_variant	10069							g.chr21:30391545C>T	AF212232	CCDS13582.1	21q22.11	2012-12-07	2007-07-17	2007-07-17	ENSG00000156253	ENSG00000156253			1302	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 6"""	C21orf6		10729227	Standard	NM_016940		Approved	GL011	uc002yms.3	P57060	OTTHUMG00000078805	ENST00000493196.1:c.54G>A	21.37:g.30391545C>T						RWDD2B_uc002ymt.2_5'UTR|RWDD2B_uc002ymu.2_RNA|RWDD2B_uc002ymv.2_5'UTR	p.G18G	NM_016940	NP_058636	P57060	RWD2B_HUMAN			1	141	-			18						Silent	SNP	ENST00000493196.1	37	c.54G>A	CCDS13582.1																																																																																				0.582	RWDD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171858.1			4	9	0	0	0	0	4	9				
KRTAP21-1	337977	broad.mit.edu	37	21	32127484	32127484	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr21:32127484G>T	ENST00000335093.3	-	1	262	c.213C>A	c.(211-213)tgC>tgA	p.C71*		NM_181619.1	NP_853650.1	Q3LI58	KR211_HUMAN	keratin associated protein 21-1	71						intermediate filament (GO:0005882)				breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7						ATCTTCTAAAGCAAAATGGCC	0.468																																						uc011adi.1		NA																	0				breast(1)	1						c.(211-213)TGC>TGA		keratin associated protein 21-1							90.0	94.0	92.0					21																	32127484		2202	4298	6500	SO:0001587	stop_gained	337977					intermediate filament		g.chr21:32127484G>T	AP001709	CCDS13606.1	21q22.1	2006-03-13			ENSG00000187005	ENSG00000187005		"""Keratin associated proteins"""	18945	protein-coding gene	gene with protein product						12359730	Standard	NM_181619		Approved	KAP21.1	uc011adi.2	Q3LI58	OTTHUMG00000057777	ENST00000335093.3:c.213C>A	21.37:g.32127484G>T	ENSP00000335566:p.Cys71*						p.C71*	NM_181619	NP_853650	Q3LI58	KR211_HUMAN			1	213	-			71						Nonsense_Mutation	SNP	ENST00000335093.3	37	c.213C>A	CCDS13606.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.614414	0.46631	.	.	ENSG00000187005	ENST00000335093	.	.	.	4.53	3.6	0.41247	.	.	.	.	.	.	.	.	.	.	.	0.23036	N	0.998398	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.8958	0.29706	0.1292:0.0:0.8708:0.0	.	.	.	.	X	71	.	ENSP00000335566:C71X	C	-	3	2	KRTAP21-1	31049355	0.093000	0.21703	0.705000	0.30386	0.485000	0.33311	1.205000	0.32308	1.104000	0.41587	0.643000	0.83706	TGC		0.468	KRTAP21-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128229.2			37	205	1	0	2.49e-23	3.56e-23	37	205				
GAB4	128954	broad.mit.edu	37	22	17451084	17451084	+	Splice_Site	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr22:17451084C>G	ENST00000400588.1	-	4	794		c.e4-1		GAB4_ENST00000523144.1_Intron	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4											breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GCTGGCACTCCTAAGAGAGAG	0.557																																						uc002zlw.2		NA																	0				large_intestine(1)|ovary(1)	2						c.e4-1		GRB2-associated binding protein family, member							52.0	56.0	55.0					22																	17451084		2051	4227	6278	SO:0001630	splice_region_variant	128954							g.chr22:17451084C>G	AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"""Pleckstrin homology (PH) domain containing"""	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.687-1G>C	22.37:g.17451084C>G						GAB4_uc010gqs.1_Intron	p.R229_splice	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN			4	795	-		all_epithelial(15;0.112)|Lung NSC(13;0.248)							Splice_Site	SNP	ENST00000400588.1	37	c.687_splice	CCDS42976.1	.	.	.	.	.	.	.	.	.	.	C	8.325	0.825249	0.16749	.	.	ENSG00000215568	ENST00000400588	.	.	.	1.97	1.97	0.26223	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.9586	0.41682	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GAB4	15831084	1.000000	0.71417	0.985000	0.45067	0.204000	0.24138	6.577000	0.74027	1.398000	0.46701	0.411000	0.27672	.		0.557	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315426.1	XM_372882	Intron	24	82	0	0	0	0	24	82				
DGCR14	8220	broad.mit.edu	37	22	19127505	19127505	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr22:19127505G>A	ENST00000252137.6	-	4	476	c.433C>T	c.(433-435)Ctg>Ttg	p.L145L		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	145					mRNA splicing, via spliceosome (GO:0000398)|nervous system development (GO:0007399)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					AGGCTGGGCAGCGGCTCCTTC	0.612																																						uc002zou.2		NA																	0				ovary(1)	1						c.(433-435)CTG>TTG		DiGeorge syndrome critical region protein 14							96.0	95.0	95.0					22																	19127505		2203	4300	6503	SO:0001819	synonymous_variant	8220				nervous system development	catalytic step 2 spliceosome		g.chr22:19127505G>A	L77566	CCDS13756.1	22q11.21	2007-02-20			ENSG00000100056	ENSG00000100056			16817	protein-coding gene	gene with protein product		601755	"""DiGeorge syndrome critical region gene 13"""	DGCR13		8776594, 9063747	Standard	NM_022719		Approved	DGSI, Es2el, ES2, DGS-H	uc002zou.3	Q96DF8	OTTHUMG00000150119	ENST00000252137.6:c.433C>T	22.37:g.19127505G>A						DGCR14_uc002zot.2_Silent_p.L66L|DGCR14_uc002zov.2_RNA	p.L145L	NM_022719	NP_073210	Q96DF8	DGC14_HUMAN			4	470	-	Colorectal(54;0.0993)		145					Q49AH7|Q9BTZ4	Silent	SNP	ENST00000252137.6	37	c.433C>T	CCDS13756.1																																																																																				0.612	DGCR14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316432.2			85	131	0	0	0	0	85	131				
FBXO7	25793	broad.mit.edu	37	22	32889195	32889195	+	Silent	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr22:32889195G>C	ENST00000266087.7	+	7	1398	c.1071G>C	c.(1069-1071)gcG>gcC	p.A357A	FBXO7_ENST00000397426.1_Silent_p.A243A|FBXO7_ENST00000382058.3_Silent_p.A278A	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	357	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				cell death (GO:0008219)|mitochondrion degradation (GO:0000422)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of lymphocyte differentiation (GO:0045620)|protein targeting to mitochondrion (GO:0006626)|protein ubiquitination (GO:0016567)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTTTGTCTGCGGTTTGTCGTG	0.448																																						uc003amq.2		NA																	0				ovary(1)	1						c.(1069-1071)GCG>GCC		F-box only protein 7 isoform 1							315.0	257.0	277.0					22																	32889195		2203	4300	6503	SO:0001819	synonymous_variant	25793				cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr22:32889195G>C	AF129537	CCDS13907.1, CCDS58806.1	22q12.3	2013-09-19	2004-06-15		ENSG00000100225	ENSG00000100225		"""F-boxes /  ""other"""", ""Parkinson disease"""	13586	protein-coding gene	gene with protein product		605648	"""F-box only protein 7"""			10531035, 10531037, 19038853	Standard	NM_001257990		Approved	FBX7, Fbx, PARK15	uc003amq.3	Q9Y3I1	OTTHUMG00000030674	ENST00000266087.7:c.1071G>C	22.37:g.32889195G>C						FBXO7_uc003amr.2_Silent_p.A243A|FBXO7_uc003ams.2_Silent_p.A201A|FBXO7_uc003amt.2_Silent_p.A278A|FBXO7_uc003amu.2_Silent_p.A243A|FBXO7_uc003amv.2_Silent_p.A56A	p.A357A	NM_012179	NP_036311	Q9Y3I1	FBX7_HUMAN			7	1354	+			357			F-box.		B4DNB3|B4DWX5|Q5TGC4|Q5TI86|Q96HM6|Q9UF21|Q9UKT2	Silent	SNP	ENST00000266087.7	37	c.1071G>C	CCDS13907.1																																																																																				0.448	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129001.1			89	187	0	0	0	0	89	187				
NCF4	4689	broad.mit.edu	37	22	37266473	37266473	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr22:37266473C>G	ENST00000248899.6	+	5	543	c.359C>G	c.(358-360)cCg>cGg	p.P120R	NCF4_ENST00000397147.4_Missense_Mutation_p.P120R|CTA-833B7.2_ENST00000330602.2_RNA|CTA-833B7.2_ENST00000431290.1_RNA	NM_000631.4	NP_000622.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	120	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|positive regulation of catalytic activity (GO:0043085)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|membrane (GO:0016020)|NADPH oxidase complex (GO:0043020)|phagolysosome (GO:0032010)	phosphatidylinositol-3-phosphate binding (GO:0032266)|protein dimerization activity (GO:0046983)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16					Dextromethorphan(DB00514)	CTCAGCCTGCCGGTCTGGGTG	0.642																																						uc003apy.3		NA																	0				ovary(1)	1						c.(358-360)CCG>CGG		neutrophil cytosolic factor 4 isoform 1							89.0	77.0	81.0					22																	37266473		2203	4300	6503	SO:0001583	missense	4689				cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity	g.chr22:37266473C>G	X77094	CCDS13934.1, CCDS13935.1	22q13.1	2014-09-17	2002-08-29		ENSG00000100365	ENSG00000100365			7662	protein-coding gene	gene with protein product	"""neutrophil NADPH oxidase factor 4"""	601488	"""neutrophil cytosolic factor 4 (40kD)"""			8839867	Standard	NM_013416		Approved	p40phox, SH3PXD4	uc003apy.4	Q15080	OTTHUMG00000150548	ENST00000248899.6:c.359C>G	22.37:g.37266473C>G	ENSP00000248899:p.Pro120Arg					NCF4_uc003apz.3_Missense_Mutation_p.P120R	p.P120R	NM_000631	NP_000622	Q15080	NCF4_HUMAN			5	543	+			120			PX.		A8K4F9|O60808|Q86U56|Q9BU98|Q9NP45	Missense_Mutation	SNP	ENST00000248899.6	37	c.359C>G	CCDS13934.1	.	.	.	.	.	.	.	.	.	.	c	15.37	2.812842	0.50527	.	.	ENSG00000100365	ENST00000447071;ENST00000248899;ENST00000397147	T;T;T	0.73897	-0.79;1.18;1.18	4.65	4.65	0.58169	Phox homologous domain (5);	0.074718	0.53938	D	0.000047	D	0.86924	0.6050	M	0.81682	2.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88887	0.3343	10	0.66056	D	0.02	-33.7931	17.9261	0.88983	0.0:1.0:0.0:0.0	.	120;120	A8K4F9;Q15080	.;NCF4_HUMAN	R	17;120;120	ENSP00000414958:P17R;ENSP00000248899:P120R;ENSP00000380334:P120R	ENSP00000248899:P120R	P	+	2	0	NCF4	35596419	1.000000	0.71417	0.938000	0.37757	0.323000	0.28346	6.725000	0.74752	2.281000	0.76405	0.645000	0.84053	CCG		0.642	NCF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318863.1	NM_000631		30	89	0	0	0	0	30	89				
SMC1B	27127	broad.mit.edu	37	22	45779421	45779421	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr22:45779421T>C	ENST00000357450.4	-	12	1983	c.1984A>G	c.(1984-1986)Aag>Gag	p.K662E	SMC1B_ENST00000404354.3_Missense_Mutation_p.K662E	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	662	Flexible hinge.				meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CATCTAGCCTTGTATTTTAAG	0.363																																						uc003bgc.2		NA																	0				ovary(2)	2						c.(1984-1986)AAG>GAG		SMC1 structural maintenance of chromosomes							159.0	143.0	148.0					22																	45779421		1825	4079	5904	SO:0001583	missense	27127				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	g.chr22:45779421T>C	AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"""Structural maintenance of chromosomes proteins"""	11112	protein-coding gene	gene with protein product		608685	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"""	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.1984A>G	22.37:g.45779421T>C	ENSP00000350036:p.Lys662Glu					SMC1B_uc003bgd.2_Missense_Mutation_p.K662E|SMC1B_uc003bge.1_Missense_Mutation_p.K445E	p.K662E	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	12	2036	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	662			Flexible hinge.		A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	ENST00000357450.4	37	c.1984A>G	CCDS43027.1	.	.	.	.	.	.	.	.	.	.	T	31	5.067985	0.93950	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	D;D	0.85629	-2.01;-2.01	6.08	6.08	0.98989	SMCs flexible hinge (1);RecF/RecN/SMC (1);	0.000000	0.64402	D	0.000014	D	0.93000	0.7772	M	0.87682	2.9	0.80722	D	1	P;D;D	0.89917	0.932;1.0;1.0	P;D;D	0.77557	0.784;0.99;0.986	D	0.92279	0.5832	10	0.33141	T	0.24	.	16.6438	0.85155	0.0:0.0:0.0:1.0	.	662;662;662	Q8NDV3;Q8NDV3-2;Q8NDV3-3	SMC1B_HUMAN;.;.	E	662	ENSP00000350036:K662E;ENSP00000385902:K662E	ENSP00000350036:K662E	K	-	1	0	SMC1B	44158085	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.725000	0.84808	2.333000	0.79357	0.533000	0.62120	AAG		0.363	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674		67	108	0	0	0	0	67	108				
MOV10L1	54456	broad.mit.edu	37	22	50552123	50552123	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr22:50552123T>G	ENST00000262794.5	+	6	873	c.790T>G	c.(790-792)Ttg>Gtg	p.L264V	MOV10L1_ENST00000540615.1_Missense_Mutation_p.L244V|MOV10L1_ENST00000545383.1_Missense_Mutation_p.L264V|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Missense_Mutation_p.L264V	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	264					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TGGAACGATTTTGCTGAAGAA	0.473																																						uc003bjj.2		NA																	0				ovary(2)|skin(1)	3						c.(790-792)TTG>GTG		MOV10-like 1 isoform 1							106.0	97.0	100.0					22																	50552123		2203	4300	6503	SO:0001583	missense	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	g.chr22:50552123T>G	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.790T>G	22.37:g.50552123T>G	ENSP00000262794:p.Leu264Val					MOV10L1_uc003bjk.3_Missense_Mutation_p.L264V|MOV10L1_uc011arp.1_Missense_Mutation_p.L244V|MOV10L1_uc011arq.1_Missense_Mutation_p.L25V|MOV10L1_uc010hao.1_5'Flank	p.L264V	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	6	873	+		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)	264					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	37	c.790T>G	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	T	15.52	2.857249	0.51376	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	D;D;T;D	0.86230	-1.91;-1.91;-1.49;-2.09	6.17	1.45	0.22620	.	0.144066	0.44285	D	0.000478	D	0.91019	0.7175	M	0.74881	2.28	0.22389	N	0.999144	D;D;D;D	0.76494	0.999;0.996;0.994;0.994	D;P;P;P	0.68353	0.957;0.904;0.804;0.804	D	0.83385	0.0014	10	0.56958	D	0.05	-19.6181	9.6328	0.39789	0.0:0.348:0.0:0.652	.	25;244;264;264	B7Z893;F5H403;A8MXC6;Q9BXT6	.;.;.;M10L1_HUMAN	V	264;264;264;244	ENSP00000438978:L264V;ENSP00000262794:L264V;ENSP00000379199:L264V;ENSP00000438542:L244V	ENSP00000262794:L264V	L	+	1	2	MOV10L1	48894250	0.000000	0.05858	0.005000	0.12908	0.012000	0.07955	-0.193000	0.09573	0.210000	0.20664	0.533000	0.62120	TTG		0.473	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		47	115	0	0	0	0	47	115				
CNTN6	27255	broad.mit.edu	37	3	1337387	1337387	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:1337387T>A	ENST00000446702.2	+	6	1184	c.557T>A	c.(556-558)gTg>gAg	p.V186E	CNTN6_ENST00000350110.2_Missense_Mutation_p.V186E|CNTN6_ENST00000539053.1_Missense_Mutation_p.V114E			Q9UQ52	CNTN6_HUMAN	contactin 6	186	Ig-like C2-type 2.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		ATTGCCAAAGTGGAACCATCA	0.443																																						uc003boz.2		NA																	0				skin(3)|lung(2)|breast(2)|pancreas(1)	8						c.(556-558)GTG>GAG		contactin 6 precursor							102.0	92.0	96.0					3																	1337387		2203	4300	6503	SO:0001583	missense	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1337387T>A	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.557T>A	3.37:g.1337387T>A	ENSP00000407822:p.Val186Glu					CNTN6_uc010hbo.2_Missense_Mutation_p.V181E|CNTN6_uc011asj.1_Missense_Mutation_p.V114E|CNTN6_uc003bpa.2_Missense_Mutation_p.V186E	p.V186E	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	6	824	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	186			Ig-like C2-type 2.		Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.557T>A	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	T	32	5.126869	0.94429	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.72394	-0.65;-0.65;-0.65	5.79	5.79	0.91817	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.240977	0.28989	N	0.013495	D	0.89164	0.6637	H	0.95950	3.745	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.989;0.994	D	0.92450	0.5969	10	0.87932	D	0	.	15.7863	0.78306	0.0:0.0:0.0:1.0	.	114;186	B4DGV0;Q9UQ52	.;CNTN6_HUMAN	E	186;114;186	ENSP00000407822:V186E;ENSP00000442791:V114E;ENSP00000341882:V186E	ENSP00000341882:V186E	V	+	2	0	CNTN6	1312387	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.828000	0.86729	2.208000	0.71279	0.533000	0.62120	GTG		0.443	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		21	70	0	0	0	0	21	70				
TRIM71	131405	broad.mit.edu	37	3	32933213	32933213	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:32933213G>A	ENST00000383763.5	+	4	2580	c.2517G>A	c.(2515-2517)ggG>ggA	p.G839G		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	839					fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089)	cytoplasmic mRNA processing body (GO:0000932)	ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCGGCTTTGGGCAGATGGACC	0.547																																						uc003cff.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(2515-2517)GGG>GGA		tripartite motif-containing 71							130.0	140.0	137.0					3																	32933213		2067	4201	6268	SO:0001819	synonymous_variant	131405				multicellular organismal development	cytoplasm	zinc ion binding	g.chr3:32933213G>A		CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	32669	protein-coding gene	gene with protein product			"""tripartite motif-containing 71"", ""tripartite motif containing 71"""				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.2517G>A	3.37:g.32933213G>A							p.G839G	NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN			4	2580	+			839			NHL 6.			Silent	SNP	ENST00000383763.5	37	c.2517G>A	CCDS43060.1																																																																																				0.547	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341565.3	NM_001039111		46	220	0	0	0	0	46	220				
SLC6A20	54716	broad.mit.edu	37	3	45800531	45800531	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:45800531G>T	ENST00000358525.4	-	11	1833	c.1718C>A	c.(1717-1719)gCg>gAg	p.A573E	SLC6A20_ENST00000493980.1_5'Flank|SLC6A20_ENST00000353278.4_Missense_Mutation_p.A536E|SLC6A20_ENST00000456124.2_Intron	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	573					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|glycine transport (GO:0015816)|ion transport (GO:0006811)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CCCCAGGGCCGCCAGGGGGAT	0.612																																						uc011bai.1		NA																	0				ovary(2)	2						c.(1717-1719)GCG>GAG		solute carrier family 6, member 20 isoform 1							47.0	52.0	50.0					3																	45800531		2203	4300	6503	SO:0001583	missense	54716				cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr3:45800531G>T	AF075260	CCDS2730.1, CCDS43077.1	3p21.6	2013-05-22			ENSG00000163817	ENSG00000163817		"""Solute carriers"""	30927	protein-coding gene	gene with protein product		605616				9932288, 11352561	Standard	NM_022405		Approved	XT3, Xtrp3	uc011bai.2	Q9NP91	OTTHUMG00000133446	ENST00000358525.4:c.1718C>A	3.37:g.45800531G>T	ENSP00000346298:p.Ala573Glu					SLC6A20_uc003cow.2_Missense_Mutation_p.A223E|SLC6A20_uc011baj.1_Missense_Mutation_p.A536E	p.A573E	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)	11	1842	-			573			Helical; Name=12; (Potential).		A1A4F2|O75590|Q8TF10|Q9NPQ2|Q9NQ77	Missense_Mutation	SNP	ENST00000358525.4	37	c.1718C>A	CCDS43077.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.429166	0.43122	.	.	ENSG00000163817	ENST00000353278;ENST00000358525	T;T	0.74526	-0.85;-0.85	5.25	-2.45	0.06481	.	0.628566	0.16052	N	0.231918	T	0.66694	0.2815	L	0.47190	1.495	0.80722	D	1	P;P	0.37594	0.546;0.601	B;B	0.39904	0.208;0.313	T	0.64896	-0.6299	10	0.54805	T	0.06	.	12.7887	0.57520	0.3244:0.6098:0.0658:0.0	.	536;573	Q9NP91-2;Q9NP91	.;S6A20_HUMAN	E	536;573	ENSP00000296133:A536E;ENSP00000346298:A573E	ENSP00000296133:A536E	A	-	2	0	SLC6A20	45775535	0.236000	0.23804	0.966000	0.40874	0.533000	0.34776	0.754000	0.26390	-0.261000	0.09405	-1.139000	0.01908	GCG		0.612	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257318.3	NM_020208		42	39	1	0	2.55e-27	3.71e-27	42	39				
PTH1R	5745	broad.mit.edu	37	3	46944837	46944837	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:46944837C>A	ENST00000313049.5	+	14	1676	c.1473C>A	c.(1471-1473)agC>agA	p.S491R	PTH1R_ENST00000430002.2_Missense_Mutation_p.S491R|PTH1R_ENST00000449590.1_Missense_Mutation_p.S491R|PTH1R_ENST00000418619.1_Missense_Mutation_p.S491R			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	491					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|bone mineralization (GO:0030282)|bone resorption (GO:0045453)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|osteoblast development (GO:0002076)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|skeletal system development (GO:0001501)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	parathyroid hormone receptor activity (GO:0004991)|peptide hormone binding (GO:0017046)|protein self-association (GO:0043621)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19					Preotact(DB05829)|Teriparatide(DB06285)	GCAGCGGGAGCAGCAGCTATA	0.622																																						uc003cqm.2		NA																	0				breast(1)	1						c.(1471-1473)AGC>AGA		parathyroid hormone receptor 1 precursor							46.0	40.0	42.0					3																	46944837		2203	4299	6502	SO:0001583	missense	5745	Ollier_disease_/_Maffuci_syndrome				cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association	g.chr3:46944837C>A		CCDS2747.1	3p22-p21.1	2012-08-10	2008-11-18	2008-11-18	ENSG00000160801	ENSG00000160801		"""GPCR / Class B : Parathyroid hormone receptors"""	9608	protein-coding gene	gene with protein product		168468	"""parathyroid hormone receptor 1"""	PTHR, PTHR1		8020952	Standard	NM_001184744		Approved		uc021wxg.1	Q03431	OTTHUMG00000133515	ENST00000313049.5:c.1473C>A	3.37:g.46944837C>A	ENSP00000321999:p.Ser491Arg					PTH1R_uc003cqn.2_Missense_Mutation_p.S491R	p.S491R	NM_000316	NP_000307	Q03431	PTH1R_HUMAN			16	1676	+			491			Cytoplasmic (Potential).		Q2M1U3	Missense_Mutation	SNP	ENST00000313049.5	37	c.1473C>A	CCDS2747.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.485392	0.63962	.	.	ENSG00000160801	ENST00000449590;ENST00000418619;ENST00000427125;ENST00000430002;ENST00000313049;ENST00000313063;ENST00000422115	T;T;T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64;-0.64;-0.64	5.1	3.26	0.37387	.	.	.	.	.	T	0.68696	0.3029	L	0.54323	1.7	0.58432	D	0.999999	P	0.40360	0.714	P	0.48089	0.566	T	0.66344	-0.5947	9	0.52906	T	0.07	.	4.7102	0.12868	0.1565:0.6101:0.1513:0.0821	.	491	Q03431	PTH1R_HUMAN	R	491;491;491;491;491;796;80	ENSP00000402723:S491R;ENSP00000411424:S491R;ENSP00000400977:S491R;ENSP00000413774:S491R;ENSP00000321999:S491R;ENSP00000396176:S80R	ENSP00000321999:S491R	S	+	3	2	PTH1R	46919841	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.810000	0.27183	0.813000	0.34350	0.563000	0.77884	AGC		0.622	PTH1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257481.1	NM_000316		24	23	1	0	7.44e-23	1.06e-22	24	23				
CELSR3	1951	broad.mit.edu	37	3	48696506	48696506	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:48696506G>T	ENST00000164024.4	-	1	3842	c.3562C>A	c.(3562-3564)Ccg>Acg	p.P1188T	CELSR3_ENST00000544264.1_Missense_Mutation_p.P1188T	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1188	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ATGCCCGACGGGAAGGTGTCT	0.537																																						uc003cul.2		NA																	0				ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11						c.(3562-3564)CCG>ACG		cadherin EGF LAG seven-pass G-type receptor 3							129.0	125.0	127.0					3																	48696506		2203	4300	6503	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48696506G>T	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.3562C>A	3.37:g.48696506G>T	ENSP00000164024:p.Pro1188Thr					CELSR3_uc003cuf.1_Missense_Mutation_p.P1258T	p.P1188T	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	1	3843	-			1188			Extracellular (Potential).|Cadherin 9.		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.3562C>A	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.389867	0.42410	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.40225	1.04;1.04	5.44	5.44	0.79542	Cadherin (1);Cadherin-like (1);	.	.	.	.	T	0.71986	0.3405	M	0.89287	3.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	T	0.77744	-0.2473	9	0.87932	D	0	.	19.2719	0.94013	0.0:0.0:1.0:0.0	.	1188;1258	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	T	1188	ENSP00000164024:P1188T;ENSP00000445694:P1188T	ENSP00000164024:P1188T	P	-	1	0	CELSR3	48671510	1.000000	0.71417	1.000000	0.80357	0.157000	0.22087	9.869000	0.99810	2.561000	0.86390	0.561000	0.74099	CCG		0.537	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		61	52	1	0	2.91e-39	4.4e-39	61	52				
WDR6	11180	broad.mit.edu	37	3	49050668	49050668	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:49050668C>G	ENST00000608424.1	+	2	1740	c.1701C>G	c.(1699-1701)caC>caG	p.H567Q	WDR6_ENST00000395474.3_Missense_Mutation_p.H597Q|WDR6_ENST00000489684.1_Intron|WDR6_ENST00000415265.2_Intron|WDR6_ENST00000448293.1_Missense_Mutation_p.H516Q			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	567					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		CCTCTCTGCACGGGAAGCAGG	0.597																																						uc003cvj.2		NA																	0				central_nervous_system(1)	1						c.(1789-1791)CAC>CAG		WD repeat domain 6 protein							59.0	44.0	49.0					3																	49050668		2203	4300	6503	SO:0001583	missense	11180				cell cycle arrest|negative regulation of cell proliferation	cytoplasm		g.chr3:49050668C>G	AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"""WD repeat domain containing"""	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.1701C>G	3.37:g.49050668C>G	ENSP00000477389:p.His567Gln					WDR6_uc011bbx.1_Intron|WDR6_uc011bby.1_Intron|WDR6_uc010hkn.2_Missense_Mutation_p.H541Q|WDR6_uc011bbz.1_Missense_Mutation_p.H516Q	p.H597Q	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN		Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)	2	1929	+			567			WD 9.		B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation	SNP	ENST00000608424.1	37	c.1791C>G		.	.	.	.	.	.	.	.	.	.	C	15.48	2.845970	0.51164	.	.	ENSG00000178252	ENST00000395474;ENST00000448293	T;D	0.89681	2.85;-2.55	5.35	-2.73	0.05950	Quinoprotein amine dehydrogenase, beta chain-like (1);Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.92361	0.7576	M	0.79258	2.445	0.43226	D	0.99511	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.89673	0.3885	10	0.37606	T	0.19	-17.8828	12.7808	0.57476	0.0:0.4945:0.0:0.5055	.	567;516	Q9NNW5;E9PDU5	WDR6_HUMAN;.	Q	597;516	ENSP00000378857:H597Q;ENSP00000413432:H516Q	ENSP00000378857:H597Q	H	+	3	2	WDR6	49025672	0.389000	0.25205	0.989000	0.46669	0.963000	0.63663	-0.383000	0.07398	-0.501000	0.06605	-0.415000	0.06103	CAC		0.597	WDR6-024	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471652.1			4	55	0	0	0	0	4	55				
NISCH	11188	broad.mit.edu	37	3	52526337	52526337	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:52526337G>A	ENST00000479054.1	+	22	4426	c.4354G>A	c.(4354-4356)Ggg>Agg	p.G1452R	NISCH_ENST00000345716.4_Missense_Mutation_p.G1452R			Q9Y2I1	NISCH_HUMAN	nischarin	1452					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	GGACCACTTTGGGGAGGTGCC	0.617																																						uc011beg.1		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(4354-4356)GGG>AGG		nischarin							141.0	149.0	146.0					3																	52526337		2203	4300	6503	SO:0001583	missense	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52526337G>A	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"""imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected"""	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.4354G>A	3.37:g.52526337G>A	ENSP00000418232:p.Gly1452Arg					NISCH_uc003ded.3_Missense_Mutation_p.G1452R|NISCH_uc003dee.3_Missense_Mutation_p.G941R|NISCH_uc003deg.1_Intron|NISCH_uc003deh.3_Missense_Mutation_p.G201R	p.G1452R	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	22	4426	+			1452					C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	ENST00000479054.1	37	c.4354G>A	CCDS33767.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.394931	0.83011	.	.	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000433196	T;T	0.10382	2.88;2.88	5.37	5.37	0.77165	.	0.063051	0.64402	D	0.000007	T	0.23806	0.0576	L	0.29908	0.895	0.46654	D	0.999145	D	0.89917	1.0	D	0.69307	0.963	T	0.01276	-1.1398	10	0.87932	D	0	-37.9745	19.116	0.93340	0.0:0.0:1.0:0.0	.	1452	Q9Y2I1	NISCH_HUMAN	R	1452;1452;376	ENSP00000418232:G1452R;ENSP00000339958:G1452R	ENSP00000339958:G1452R	G	+	1	0	NISCH	52501377	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	6.010000	0.70753	2.535000	0.85469	0.561000	0.74099	GGG		0.617	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		166	160	0	0	0	0	166	160				
CNTN3	5067	broad.mit.edu	37	3	74334568	74334568	+	Silent	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:74334568G>C	ENST00000263665.6	-	19	2619	c.2592C>G	c.(2590-2592)gcC>gcG	p.A864A		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	864	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CCCGTAGTCTGGCTGATGTCT	0.547																																						uc003dpm.1		NA																	0				breast(3)|ovary(1)|skin(1)	5						c.(2590-2592)GCC>GCG		contactin 3 precursor							175.0	153.0	160.0					3																	74334568		2203	4300	6503	SO:0001819	synonymous_variant	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74334568G>C	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.2592C>G	3.37:g.74334568G>C							p.A864A	NM_020872	NP_065923	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	19	2672	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	864			Fibronectin type-III 3.		B9EK50|Q9H039	Silent	SNP	ENST00000263665.6	37	c.2592C>G	CCDS33790.1																																																																																				0.547	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		44	163	0	0	0	0	44	163				
ROBO2	6092	broad.mit.edu	37	3	77629206	77629206	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:77629206G>A	ENST00000461745.1	+	16	3337	c.2437G>A	c.(2437-2439)Gag>Aag	p.E813K	ROBO2_ENST00000487694.3_Missense_Mutation_p.E829K|ROBO2_ENST00000332191.8_Missense_Mutation_p.E813K	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	813	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ATACCGGGTAGAGGTTGCAGC	0.438																																						uc003dpy.3		NA																	0				lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11						c.(2437-2439)GAG>AAG		roundabout, axon guidance receptor, homolog 2							119.0	118.0	119.0					3																	77629206		1906	4124	6030	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77629206G>A	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.2437G>A	3.37:g.77629206G>A	ENSP00000417164:p.Glu813Lys					ROBO2_uc003dpz.2_Missense_Mutation_p.E817K|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.E817K	p.E813K	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	16	3080	+			813			Fibronectin type-III 3.|Extracellular (Potential).		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.2437G>A	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	G	36	5.730999	0.96856	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.57107	0.42;0.42;0.42	5.53	5.53	0.82687	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.40908	U	0.000990	T	0.58581	0.2132	L	0.31294	0.92	0.39633	D	0.970209	D;D;D	0.55800	0.973;0.97;0.973	P;P;P	0.57101	0.783;0.813;0.795	T	0.58451	-0.7634	9	0.45353	T	0.12	.	19.0503	0.93041	0.0:0.0:1.0:0.0	.	829;813;813	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	K	829;829;833;813;813;534	ENSP00000417335:E829K;ENSP00000417164:E813K;ENSP00000327536:E813K	ENSP00000327536:E813K	E	+	1	0	ROBO2	77711896	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.808000	0.99193	2.591000	0.87537	0.563000	0.77884	GAG		0.438	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		47	58	0	0	0	0	47	58				
CADM2	253559	broad.mit.edu	37	3	86114784	86114784	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:86114784C>G	ENST00000407528.2	+	9	1155	c.1093C>G	c.(1093-1095)Cct>Gct	p.P365A	CADM2_ENST00000405615.2_Missense_Mutation_p.P367A|CADM2_ENST00000383699.3_Missense_Mutation_p.P334A	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	365					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.P334T(1)|p.P367T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		CCAGAATGGCCCTGACCATGC	0.403																																						uc003dqj.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)|kidney(1)|skin(1)	4						c.(1093-1095)CCT>GCT		immunoglobulin superfamily, member 4D							157.0	140.0	146.0					3																	86114784		2203	4300	6503	SO:0001583	missense	253559				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane		g.chr3:86114784C>G	AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	29849	protein-coding gene	gene with protein product	"""nectin-like 3"""	609938	"""immunoglobulin superfamily, member 4D"""	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.1093C>G	3.37:g.86114784C>G	ENSP00000384575:p.Pro365Ala					CADM2_uc003dqk.2_Missense_Mutation_p.P334A|CADM2_uc003dql.2_Missense_Mutation_p.P367A	p.P365A	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)	9	1719	+		Lung NSC(201;0.0148)	365			Extracellular (Potential).		G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Missense_Mutation	SNP	ENST00000407528.2	37	c.1093C>G	CCDS54614.1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.302298	0.23736	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	T;T;T	0.62941	-0.01;0.03;0.04	5.76	5.76	0.90799	.	0.101931	0.64402	D	0.000003	T	0.41419	0.1158	N	0.04297	-0.235	0.47308	D	0.999383	B;B;B	0.31077	0.12;0.264;0.307	B;B;B	0.35727	0.209;0.124;0.079	T	0.40384	-0.9566	10	0.17832	T	0.49	.	13.4244	0.61018	0.2743:0.7257:0.0:0.0	.	367;334;365	Q8N3J6-3;G3XHN4;Q8N3J6	.;.;CADM2_HUMAN	A	334;365;367	ENSP00000373200:P334A;ENSP00000384575:P365A;ENSP00000384193:P367A	ENSP00000373200:P334A	P	+	1	0	CADM2	86197474	0.994000	0.37717	0.997000	0.53966	0.992000	0.81027	3.047000	0.49854	2.721000	0.93114	0.650000	0.86243	CCT		0.403	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	NM_153184		37	37	0	0	0	0	37	37				
PROS1	5627	broad.mit.edu	37	3	93615516	93615516	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:93615516G>A	ENST00000394236.3	-	9	1185	c.869C>T	c.(868-870)cCc>cTc	p.P290L	PROS1_ENST00000407433.1_Missense_Mutation_p.P159L	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	290					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	AAGGTTCAAGGGAAGGCACAC	0.368																																						uc003drb.3		NA																	0				large_intestine(1)	1						c.(868-870)CCC>CTC		protein S, alpha preproprotein	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)						76.0	82.0	80.0					3																	93615516		2203	4300	6503	SO:0001583	missense	5627				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	g.chr3:93615516G>A		CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.869C>T	3.37:g.93615516G>A	ENSP00000377783:p.Pro290Leu					PROS1_uc010hoo.2_Missense_Mutation_p.P159L|PROS1_uc003dqz.3_Missense_Mutation_p.P159L	p.P290L	NM_000313	NP_000304	P07225	PROS_HUMAN			9	1210	-			290					A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	ENST00000394236.3	37	c.869C>T	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	G	10.58	1.390633	0.25118	.	.	ENSG00000184500	ENST00000394236;ENST00000407433	T;T	0.79033	-1.23;-1.23	3.74	3.74	0.42951	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.345401	0.30565	N	0.009346	T	0.62208	0.2409	N	0.16602	0.42	0.37653	D	0.922476	P	0.40875	0.731	B	0.38428	0.273	T	0.71998	-0.4423	10	0.72032	D	0.01	.	11.1982	0.48726	0.0:0.0:0.8175:0.1825	.	290	P07225	PROS_HUMAN	L	290;159	ENSP00000377783:P290L;ENSP00000385794:P159L	ENSP00000377783:P290L	P	-	2	0	PROS1	95098206	0.999000	0.42202	1.000000	0.80357	0.393000	0.30537	2.863000	0.48396	2.097000	0.63578	0.305000	0.20034	CCC		0.368	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313		60	176	0	0	0	0	60	176				
COL8A1	1295	broad.mit.edu	37	3	99514875	99514875	+	Silent	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:99514875C>A	ENST00000261037.3	+	5	2510	c.2130C>A	c.(2128-2130)ccC>ccA	p.P710P	COL8A1_ENST00000273342.4_Silent_p.P710P	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	710	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.|Nonhelical region (NC1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen type VIII trimer (GO:0005591)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						TGCTCAGGCCCGGAGACCGGG	0.542																																						uc003dtg.1		NA																	0					0						c.(2128-2130)CCC>CCA		alpha 1 type VIII collagen precursor							41.0	39.0	40.0					3																	99514875		2203	4300	6503	SO:0001819	synonymous_variant	1295				angiogenesis|cell adhesion	basement membrane|collagen type VIII		g.chr3:99514875C>A	AF170702	CCDS2934.1	3q11.1-q13.2	2013-01-16			ENSG00000144810	ENSG00000144810		"""Collagens"""	2215	protein-coding gene	gene with protein product		120251	"""chromosome 3 open reading frame 7"""	C3orf7		2029894	Standard	NM_001850		Approved	MGC9568	uc003dth.2	P27658	OTTHUMG00000148669	ENST00000261037.3:c.2130C>A	3.37:g.99514875C>A						COL8A1_uc003dth.1_Silent_p.P710P|COL8A1_uc003dti.1_Silent_p.P711P	p.P710P	NM_001850	NP_001841	P27658	CO8A1_HUMAN			5	2375	+			710			C1q.|Nonhelical region (NC1).		D3DN42|Q53XI6|Q96D07	Silent	SNP	ENST00000261037.3	37	c.2130C>A	CCDS2934.1																																																																																				0.542	COL8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309001.1	NM_001850		27	76	1	0	1.18e-12	1.54e-12	27	76				
NFKBIZ	64332	broad.mit.edu	37	3	101572505	101572505	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:101572505A>T	ENST00000326172.5	+	5	1250	c.1135A>T	c.(1135-1137)Agc>Tgc	p.S379C	NFKBIZ_ENST00000326151.5_Missense_Mutation_p.S257C|NFKBIZ_ENST00000394054.2_Missense_Mutation_p.S279C	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	379	Required for transcriptional activity. {ECO:0000250}.				inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						CATGATGCCCAGCAGCGCCTG	0.493																																						uc003dvp.2		NA																	0				ovary(2)	2						c.(1135-1137)AGC>TGC		nuclear factor of kappa light polypeptide gene							98.0	101.0	100.0					3																	101572505		2203	4300	6503	SO:0001583	missense	64332				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:101572505A>T	AF548362	CCDS2946.1, CCDS43123.1	3p12-q12	2013-01-10			ENSG00000144802	ENSG00000144802		"""Ankyrin repeat domain containing"""	29805	protein-coding gene	gene with protein product	"""IL-1 inducible nuclear ankyrin-repeat protein"""	608004				12565889, 16513645	Standard	NM_031419		Approved	MAIL, FLJ34463, INAP	uc003dvp.3	Q9BYH8	OTTHUMG00000159194	ENST00000326172.5:c.1135A>T	3.37:g.101572505A>T	ENSP00000325663:p.Ser379Cys					NFKBIZ_uc003dvo.2_Missense_Mutation_p.S279C|NFKBIZ_uc010hpo.2_Missense_Mutation_p.S279C|NFKBIZ_uc003dvq.2_Missense_Mutation_p.S257C	p.S379C	NM_031419	NP_113607	Q9BYH8	IKBZ_HUMAN			5	1250	+			379			Required for transcriptional activity (By similarity).		B3KNR2|D3DN54|Q8IUL4|Q8NAZ8	Missense_Mutation	SNP	ENST00000326172.5	37	c.1135A>T	CCDS2946.1	.	.	.	.	.	.	.	.	.	.	A	9.355	1.066444	0.20067	.	.	ENSG00000144802	ENST00000483180;ENST00000394054;ENST00000326151;ENST00000326172	T;T;T;T	0.56103	0.51;0.48;0.57;0.54	5.65	-2.17	0.07059	.	0.891534	0.09988	N	0.730106	T	0.45736	0.1357	N	0.22421	0.69	0.09310	N	1	D;P	0.63046	0.992;0.739	P;B	0.53146	0.719;0.108	T	0.45600	-0.9250	10	0.66056	D	0.02	-7.484	8.1885	0.31354	0.5221:0.2283:0.2496:0.0	.	257;379	Q9BYH8-3;Q9BYH8	.;IKBZ_HUMAN	C	279;279;257;379	ENSP00000419800:S279C;ENSP00000377618:S279C;ENSP00000325593:S257C;ENSP00000325663:S379C	ENSP00000325593:S257C	S	+	1	0	NFKBIZ	103055195	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.099000	0.15210	-0.898000	0.03906	-2.802000	0.00113	AGC		0.493	NFKBIZ-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353793.1	NM_031419		64	139	0	0	0	0	64	139				
SIDT1	54847	broad.mit.edu	37	3	113323815	113323815	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:113323815T>A	ENST00000264852.4	+	14	2122	c.1396T>A	c.(1396-1398)Tat>Aat	p.Y466N	SIDT1_ENST00000463226.1_3'UTR|SIDT1_ENST00000393830.3_Missense_Mutation_p.Y466N	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	466					dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)			breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						GGTCATTACCTATCAGACAGT	0.498																																						uc003eak.2		NA																	0				ovary(3)|pancreas(1)|skin(1)	5						c.(1396-1398)TAT>AAT		SID1 transmembrane family, member 1 precursor							108.0	101.0	103.0					3																	113323815		2203	4300	6503	SO:0001583	missense	54847					integral to membrane		g.chr3:113323815T>A	AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.1396T>A	3.37:g.113323815T>A	ENSP00000264852:p.Tyr466Asn					SIDT1_uc011bif.1_RNA|SIDT1_uc003eaj.1_Missense_Mutation_p.Y466N|SIDT1_uc011big.1_Missense_Mutation_p.Y219N|SIDT1_uc011bih.1_RNA|SIDT1_uc011bii.1_5'UTR	p.Y466N	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN			14	2047	+			466			Extracellular (Potential).		Q17RR4	Missense_Mutation	SNP	ENST00000264852.4	37	c.1396T>A	CCDS2974.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.302450	0.81136	.	.	ENSG00000072858	ENST00000264852;ENST00000393830	T;T	0.26660	1.72;1.72	5.88	5.88	0.94601	.	0.000000	0.64402	D	0.000016	T	0.50017	0.1591	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79108	0.991;0.992	T	0.40905	-0.9538	10	0.29301	T	0.29	-16.7953	16.3015	0.82820	0.0:0.0:0.0:1.0	.	466;466	Q9NXL6-2;Q9NXL6	.;SIDT1_HUMAN	N	466	ENSP00000264852:Y466N;ENSP00000377416:Y466N	ENSP00000264852:Y466N	Y	+	1	0	SIDT1	114806505	1.000000	0.71417	1.000000	0.80357	0.545000	0.35147	7.905000	0.87416	2.239000	0.73571	0.533000	0.62120	TAT		0.498	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317564.1	NM_017699		35	103	0	0	0	0	35	103				
DRD3	1814	broad.mit.edu	37	3	113858352	113858352	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:113858352G>T	ENST00000460779.1	-	6	1007	c.718C>A	c.(718-720)Cag>Aag	p.Q240K	DRD3_ENST00000383673.2_Missense_Mutation_p.Q240K|DRD3_ENST00000295881.7_Missense_Mutation_p.Q240K|DRD3_ENST00000467632.1_Missense_Mutation_p.Q240K	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	240					acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CTTACTTGCTGGGGGAAGCCA	0.512																																						uc003ebd.2		NA																	0				ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(718-720)CAG>AAG		dopamine receptor D3 isoform a	Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)						146.0	147.0	146.0					3																	113858352		2203	4300	6503	SO:0001583	missense	1814				activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding	g.chr3:113858352G>T		CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"""GPCR / Class A : Dopamine receptors"""	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.718C>A	3.37:g.113858352G>T	ENSP00000419402:p.Gln240Lys					DRD3_uc010hqn.1_Missense_Mutation_p.Q240K|DRD3_uc003ebb.1_Missense_Mutation_p.Q240K|DRD3_uc003ebc.1_Missense_Mutation_p.Q240K	p.Q240K	NM_000796	NP_000787	P35462	DRD3_HUMAN			6	1141	-			240			Cytoplasmic.		A1A4V5|Q4VBM8	Missense_Mutation	SNP	ENST00000460779.1	37	c.718C>A	CCDS2978.1	.	.	.	.	.	.	.	.	.	.	G	8.930	0.963185	0.18583	.	.	ENSG00000151577	ENST00000460779;ENST00000467632;ENST00000383673;ENST00000281274;ENST00000295881	T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57	4.97	4.97	0.65823	GPCR, rhodopsin-like superfamily (1);	0.738078	0.12149	U	0.495140	T	0.49457	0.1558	N	0.04335	-0.225	0.80722	D	1	B;B;B;B	0.26708	0.157;0.007;0.075;0.08	B;B;B;B	0.29524	0.103;0.026;0.103;0.08	T	0.42882	-0.9425	10	0.06236	T	0.91	.	16.5965	0.84797	0.0:0.0:1.0:0.0	.	240;240;240;240	A1A4V4;A8K8E4;P35462;E9PCM4	.;.;DRD3_HUMAN;.	K	240	ENSP00000419402:Q240K;ENSP00000420662:Q240K;ENSP00000373169:Q240K;ENSP00000295881:Q240K	ENSP00000281274:Q240K	Q	-	1	0	DRD3	115341042	1.000000	0.71417	0.921000	0.36526	0.774000	0.43823	6.711000	0.74675	2.578000	0.87016	0.655000	0.94253	CAG		0.512	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354699.1	NM_000796.3		75	212	1	0	1.43e-34	2.13e-34	75	212				
FSTL1	11167	broad.mit.edu	37	3	120121736	120121736	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:120121736C>T	ENST00000295633.3	-	9	1080	c.724G>A	c.(724-726)Gat>Aat	p.D242N	FSTL1_ENST00000424703.2_Missense_Mutation_p.D207N	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	242	VWFC.				BMP signaling pathway (GO:0030509)|response to starvation (GO:0042594)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		TCAGCTCCATCTGCATACGTT	0.537																																						uc003eds.2		NA																	0				central_nervous_system(1)	1						c.(724-726)GAT>AAT		follistatin-like 1 precursor							198.0	162.0	174.0					3																	120121736		2203	4300	6503	SO:0001583	missense	11167				BMP signaling pathway	extracellular space	calcium ion binding|heparin binding	g.chr3:120121736C>T	U06863	CCDS2998.1	3q13.33	2013-01-10			ENSG00000163430	ENSG00000163430		"""EF-hand domain containing"""	3972	protein-coding gene	gene with protein product		605547				7957230, 9786430	Standard	NM_007085		Approved	FRP, FSL1	uc003eds.3	Q12841	OTTHUMG00000159440	ENST00000295633.3:c.724G>A	3.37:g.120121736C>T	ENSP00000295633:p.Asp242Asn					FSTL1_uc011bjh.1_Missense_Mutation_p.D207N	p.D242N	NM_007085	NP_009016	Q12841	FSTL1_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	9	899	-			242			VWFC.		A8K523|B4DTT5|D3DN90|Q549Z0	Missense_Mutation	SNP	ENST00000295633.3	37	c.724G>A	CCDS2998.1	.	.	.	.	.	.	.	.	.	.	C	31	5.075721	0.94000	.	.	ENSG00000163430	ENST00000295633;ENST00000539471;ENST00000424703	T;T	0.64618	-0.11;-0.11	5.67	5.67	0.87782	.	0.043673	0.85682	D	0.000000	T	0.79441	0.4446	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.75744	-0.3210	10	0.33141	T	0.24	-26.9791	19.1299	0.93400	0.0:1.0:0.0:0.0	.	207;242	B4DTT5;Q12841	.;FSTL1_HUMAN	N	242;185;207	ENSP00000295633:D242N;ENSP00000394355:D207N	ENSP00000295633:D242N	D	-	1	0	FSTL1	121604426	1.000000	0.71417	0.976000	0.42696	0.561000	0.35649	7.377000	0.79668	2.836000	0.97738	0.655000	0.94253	GAT		0.537	FSTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355399.1	NM_007085		52	130	0	0	0	0	52	130				
POLQ	10721	broad.mit.edu	37	3	121195496	121195496	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:121195496C>A	ENST00000264233.5	-	20	6424	c.6296G>T	c.(6295-6297)tGt>tTt	p.C2099F		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2099					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CTGACTTTCACATTCTGCAGT	0.428								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	uc003eee.3		NA																	0				ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(6295-6297)TGT>TTT	DNA_polymerases_(catalytic_subunits)	DNA polymerase theta							140.0	129.0	133.0					3																	121195496		2203	4300	6503	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121195496C>A	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.6296G>T	3.37:g.121195496C>A	ENSP00000264233:p.Cys2099Phe					POLQ_uc003eed.2_Missense_Mutation_p.C1271F	p.C2099F	NM_199420	NP_955452	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	20	6425	-			2099					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.6296G>T	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.734362	0.48939	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.52057	0.68	5.16	5.16	0.70880	.	0.429161	0.28109	N	0.016575	T	0.55130	0.1901	L	0.41079	1.255	0.37929	D	0.931956	D;D	0.64830	0.966;0.994	P;D	0.62955	0.603;0.909	T	0.56300	-0.8002	10	0.35671	T	0.21	.	12.5106	0.56003	0.0:0.9127:0.0:0.0873	.	2099;1271	O75417;O75417-2	DPOLQ_HUMAN;.	F	1722;2099;2235	ENSP00000264233:C2099F	ENSP00000264233:C2099F	C	-	2	0	POLQ	122678186	1.000000	0.71417	1.000000	0.80357	0.614000	0.37383	4.458000	0.60095	2.393000	0.81446	0.313000	0.20887	TGT		0.428	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		32	81	1	0	1.75e-11	2.25e-11	32	81				
SEC61A1	29927	broad.mit.edu	37	3	127783719	127783719	+	Splice_Site	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:127783719G>A	ENST00000243253.3	+	8	800		c.e8-1		SEC61A1_ENST00000424880.2_Splice_Site|RUVBL1_ENST00000464873.1_3'UTR|SEC61A1_ENST00000464451.1_Splice_Site	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)						antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell growth (GO:0016049)|endoplasmic reticulum organization (GO:0007029)|posttranslational protein targeting to membrane (GO:0006620)|protein targeting to ER (GO:0045047)|response to interferon-gamma (GO:0034341)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						TCTGCCAACAGGAATGGAATT	0.468																																						uc003ekb.2		NA																	0				ovary(1)	1						c.e8-1		Sec61 alpha 1 subunit							96.0	84.0	88.0					3																	127783719		2203	4300	6503	SO:0001630	splice_region_variant	29927				protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding	g.chr3:127783719G>A	AF077032	CCDS3046.1	3q21.3	2008-02-05			ENSG00000058262	ENSG00000058262			18276	protein-coding gene	gene with protein product		609213					Standard	NM_013336		Approved		uc003ekb.3	P61619	OTTHUMG00000159624	ENST00000243253.3:c.617-1G>A	3.37:g.127783719G>A						RUVBL1_uc003eke.2_3'UTR|RUVBL1_uc003ekf.2_3'UTR|SEC61A1_uc003ekc.2_Splice_Site_p.G153_splice|SEC61A1_uc003ekd.2_Splice_Site_p.G86_splice|SEC61A1_uc003ekg.2_5'Flank	p.G206_splice	NM_013336	NP_037468	P61619	S61A1_HUMAN			8	801	+								P38378|P57726|Q5JPF8|Q8N0Z4|Q8N3U3|Q8NC71|Q9BU16|Q9Y2R3	Splice_Site	SNP	ENST00000243253.3	37	c.617_splice	CCDS3046.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.661696	0.67700	.	.	ENSG00000058262	ENST00000464451;ENST00000243253;ENST00000424880	.	.	.	5.21	4.32	0.51571	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3707	0.74560	0.0:0.0:0.8593:0.1407	.	.	.	.	.	-1	.	.	.	+	.	.	SEC61A1	129266409	1.000000	0.71417	0.942000	0.38095	0.496000	0.33645	9.869000	0.99810	1.293000	0.44690	0.591000	0.81541	.		0.468	SEC61A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356541.2	NM_013336	Intron	36	67	0	0	0	0	36	67				
COL6A6	131873	broad.mit.edu	37	3	130285860	130285860	+	Silent	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:130285860C>A	ENST00000358511.6	+	4	1628	c.1597C>A	c.(1597-1599)Cga>Aga	p.R533R	COL6A6_ENST00000453409.2_Silent_p.R533R	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	533	Nonhelical region.|VWFA 3. {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						AAAGAAGCAGCGAGGAAACAA	0.483																																						uc010htl.2		NA																	0				ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(1597-1599)CGA>AGA		collagen type VI alpha 6 precursor							92.0	97.0	95.0					3																	130285860		1977	4161	6138	SO:0001819	synonymous_variant	131873				axon guidance|cell adhesion	collagen		g.chr3:130285860C>A	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.1597C>A	3.37:g.130285860C>A							p.R533R	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			4	1628	+			533			VWFA 3.|Nonhelical region.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Silent	SNP	ENST00000358511.6	37	c.1597C>A	CCDS46911.1																																																																																				0.483	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		38	112	1	0	6.53e-20	9.15e-20	38	112				
MED12L	116931	broad.mit.edu	37	3	150911327	150911327	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:150911327G>T	ENST00000474524.1	+	14	2057	c.2019G>T	c.(2017-2019)ttG>ttT	p.L673F	MED12L_ENST00000273432.4_Missense_Mutation_p.L533F|MED12L_ENST00000309237.4_Missense_Mutation_p.L708F|MED12L_ENST00000422248.2_Missense_Mutation_p.L673F	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	673						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACACTTCGTTGGGCAGAAGAA	0.388																																						uc003eyp.2		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(2017-2019)TTG>TTT		mediator of RNA polymerase II transcription,							93.0	90.0	91.0					3																	150911327		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150911327G>T	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.2019G>T	3.37:g.150911327G>T	ENSP00000417235:p.Leu673Phe					MED12L_uc011bnz.1_Missense_Mutation_p.L533F|MED12L_uc003eyn.2_Missense_Mutation_p.L708F|MED12L_uc003eyo.2_Missense_Mutation_p.L673F	p.L673F	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		14	2057	+			673					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.2019G>T	CCDS33876.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.964|8.964	0.971375|0.971375	0.18736|0.18736	.|.	.|.	ENSG00000144893|ENSG00000144893	ENST00000480026|ENST00000422248;ENST00000309237;ENST00000474524;ENST00000273432	.|T;T;T;T	.|0.31247	.|1.5;1.5;1.5;1.5	5.37|5.37	4.26|4.26	0.50523|0.50523	.|Mediator complex, subunit Med12, LCEWAV-domain (1);	.|0.382685	.|0.26792	.|N	.|0.022479	T|T	0.29684|0.29684	0.0741|0.0741	L|L	0.29908|0.29908	0.895|0.895	0.42674|0.42674	D|D	0.993528|0.993528	.|D;P;P;D	.|0.56968	.|0.967;0.624;0.571;0.978	.|P;P;B;P	.|0.53689	.|0.689;0.452;0.17;0.732	T|T	0.01114|0.01114	-1.1447|-1.1447	5|10	.|0.38643	.|T	.|0.18	-7.0188|-7.0188	7.4064|7.4064	0.26993|0.26993	0.1923:0.0:0.8077:0.0|0.1923:0.0:0.8077:0.0	.|.	.|533;673;673;708	.|F8WAE6;Q86YW9;Q86YW9-2;Q86YW9-3	.|.;MD12L_HUMAN;.;.	W|F	23|673;708;673;533	.|ENSP00000403308:L673F;ENSP00000310760:L708F;ENSP00000417235:L673F;ENSP00000273432:L533F	.|ENSP00000273432:L533F	G|L	+|+	1|3	0|2	MED12L|MED12L	152394017|152394017	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.841000|0.841000	0.47740|0.47740	0.968000|0.968000	0.29357|0.29357	2.649000|2.649000	0.89929|0.89929	0.655000|0.655000	0.94253|0.94253	GGG|TTG		0.388	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		97	97	1	0	2.15e-58	3.29e-58	97	97				
SI	6476	broad.mit.edu	37	3	164741477	164741477	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:164741477C>T	ENST00000264382.3	-	26	3042	c.2980G>A	c.(2980-2982)Ggt>Agt	p.G994S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	994	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.G994C(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	GCTGTTATACCCATGGATGAA	0.403										HNSCC(35;0.089)																												uc003fei.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(2980-2982)GGT>AGT		sucrase-isomaltase	Acarbose(DB00284)						132.0	126.0	128.0					3																	164741477		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164741477C>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.2980G>A	3.37:g.164741477C>T	ENSP00000264382:p.Gly994Ser	HNSCC(35;0.089)					p.G994S	NM_001041	NP_001032	P14410	SUIS_HUMAN			26	3042	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	994			Lumenal.|Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.2980G>A	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798956	0.90538	.	.	ENSG00000090402	ENST00000264382	D	0.85773	-2.03	5.53	5.53	0.82687	Glycoside hydrolase-type carbohydrate-binding (1);	0.224664	0.39687	N	0.001288	D	0.92770	0.7701	M	0.82823	2.61	0.58432	D	0.999998	D	0.76494	0.999	D	0.68621	0.959	D	0.92325	0.5869	10	0.51188	T	0.08	.	19.2635	0.93977	0.0:1.0:0.0:0.0	.	994	P14410	SUIS_HUMAN	S	994	ENSP00000264382:G994S	ENSP00000264382:G994S	G	-	1	0	SI	166224171	0.996000	0.38824	0.444000	0.26895	0.066000	0.16364	5.528000	0.67129	2.882000	0.98803	0.655000	0.94253	GGT		0.403	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		46	142	0	0	0	0	46	142				
LRRIQ4	344657	broad.mit.edu	37	3	169546666	169546666	+	Silent	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:169546666G>T	ENST00000340806.6	+	2	1140	c.1140G>T	c.(1138-1140)ggG>ggT	p.G380G		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	380										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TATACATTGGGCAAGACCAGG	0.438																																						uc003fgb.2		NA																	0					0						c.(1138-1140)GGG>GGT		leucine-rich repeats and IQ motif containing 4							125.0	120.0	122.0					3																	169546666		1857	4100	5957	SO:0001819	synonymous_variant	344657							g.chr3:169546666G>T		CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306			34298	protein-coding gene	gene with protein product	"""leucine rich repeat containing 64"""						Standard	NM_001080460		Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.1140G>T	3.37:g.169546666G>T							p.G380G	NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN			2	1140	+			380			LRR 16.			Silent	SNP	ENST00000340806.6	37	c.1140G>T	CCDS46951.1																																																																																				0.438	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378698.1	NM_001080460		36	167	1	0	9.46e-24	1.36e-23	36	167				
TNIK	23043	broad.mit.edu	37	3	170912383	170912383	+	Silent	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:170912383C>G	ENST00000436636.2	-	5	692	c.348G>C	c.(346-348)ctG>ctC	p.L116L	TNIK_ENST00000460047.1_Silent_p.L116L|TNIK_ENST00000488470.1_Silent_p.L116L|TNIK_ENST00000475336.1_Silent_p.L116L|TNIK_ENST00000369326.5_Silent_p.L116L|TNIK_ENST00000538048.1_Silent_p.L116L|TNIK_ENST00000284483.8_Silent_p.L116L|TNIK_ENST00000357327.5_Silent_p.L116L|TNIK_ENST00000341852.6_Silent_p.L116L|TNIK_ENST00000470834.1_Silent_p.L116L	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	116	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TGTTCTTGATCAGGTCGGTGA	0.468																																						uc003fhh.2		NA																	0				ovary(4)|large_intestine(1)	5						c.(346-348)CTG>CTC		TRAF2 and NCK interacting kinase isoform 1							197.0	200.0	199.0					3																	170912383		1982	4146	6128	SO:0001819	synonymous_variant	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170912383C>G	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.348G>C	3.37:g.170912383C>G						TNIK_uc003fhi.2_Silent_p.L116L|TNIK_uc003fhj.2_Silent_p.L116L|TNIK_uc003fhk.2_Silent_p.L116L|TNIK_uc003fhl.2_Silent_p.L116L|TNIK_uc003fhm.2_Silent_p.L116L|TNIK_uc003fhn.2_Silent_p.L116L|TNIK_uc003fho.2_Silent_p.L116L	p.L116L	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		5	693	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		116			Protein kinase.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Silent	SNP	ENST00000436636.2	37	c.348G>C	CCDS46956.1																																																																																				0.468	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		173	197	0	0	0	0	173	197				
PCGF3	10336	broad.mit.edu	37	4	737282	737282	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:737282G>C	ENST00000362003.5	+	7	678	c.283G>C	c.(283-285)Gag>Cag	p.E95Q	PCGF3_ENST00000521023.2_Missense_Mutation_p.E61Q|PCGF3_ENST00000505655.2_Missense_Mutation_p.E95Q|PCGF3_ENST00000470161.2_Missense_Mutation_p.E95Q	NM_006315.4	NP_006306.2	Q3KNV8	PCGF3_HUMAN	polycomb group ring finger 3	95					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(1)	7						AAAGCAGAGGGAGTTCTATCA	0.468																																						uc011bva.1		NA																	0					0						c.(283-285)GAG>CAG		ring finger protein 3							83.0	90.0	87.0					4																	737282		1945	4140	6085	SO:0001583	missense	10336				regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	zinc ion binding	g.chr4:737282G>C	AK093869	CCDS3339.2	4p16.3	2013-01-09	2005-01-17	2005-01-19	ENSG00000185619	ENSG00000185619		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	10066	protein-coding gene	gene with protein product			"""ring finger protein 3"""	RNF3			Standard	XM_005272250		Approved	FLJ36550, DONG1, RNF3A, MGC40413	uc003gbe.3	Q3KNV8	OTTHUMG00000119000	ENST00000362003.5:c.283G>C	4.37:g.737282G>C	ENSP00000354724:p.Glu95Gln					PCGF3_uc003gbd.1_RNA|PCGF3_uc003gbe.2_Missense_Mutation_p.E95Q|PCGF3_uc010ibh.2_Missense_Mutation_p.E95Q|PCGF3_uc003gbg.1_Missense_Mutation_p.E61Q|PCGF3_uc003gbh.2_Missense_Mutation_p.E61Q	p.E95Q	NM_006315	NP_006306	Q3KNV8	PCGF3_HUMAN			8	758	+			95					D3DVN1|O15262	Missense_Mutation	SNP	ENST00000362003.5	37	c.283G>C	CCDS3339.2	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392523	0.62066	.	.	ENSG00000185619	ENST00000362003;ENST00000470161;ENST00000521023;ENST00000433814;ENST00000505655	T;T;T;T	0.50277	0.75;0.75;0.87;0.75	5.2	5.2	0.72013	.	0.130811	0.48767	D	0.000161	T	0.50343	0.1610	L	0.58428	1.81	0.51012	D	0.999903	B;B;B	0.31752	0.338;0.225;0.047	B;B;B	0.37888	0.26;0.07;0.013	T	0.49254	-0.8959	10	0.38643	T	0.18	-18.0397	16.2299	0.82323	0.0:0.0:1.0:0.0	.	61;61;95	B3KWT8;B3KQ06;Q3KNV8	.;.;PCGF3_HUMAN	Q	95;95;61;95;95	ENSP00000354724:E95Q;ENSP00000420489:E95Q;ENSP00000398493:E95Q;ENSP00000423393:E95Q	ENSP00000354724:E95Q	E	+	1	0	PCGF3	727282	1.000000	0.71417	0.993000	0.49108	0.523000	0.34469	7.033000	0.76504	2.434000	0.82447	0.655000	0.94253	GAG		0.468	PCGF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239197.2	NM_006315		8	38	0	0	0	0	8	38				
CPLX1	10815	broad.mit.edu	37	4	786337	786337	+	Missense_Mutation	SNP	C	C	A	rs551494928	byFrequency	TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:786337C>A	ENST00000304062.6	-	3	322	c.91G>T	c.(91-93)Gcc>Tcc	p.A31S	CPLX1_ENST00000505203.1_Missense_Mutation_p.A31S	NM_006651.3	NP_006642.1	O14810	CPLX1_HUMAN	complexin 1	31					exocytosis (GO:0006887)|glutamate secretion (GO:0014047)|insulin secretion (GO:0030073)|neurotransmitter secretion (GO:0007269)|regulation of exocytosis (GO:0017157)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|synapse (GO:0045202)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|synaptobrevin 2-SNAP-25-syntaxin-3-complexin complex (GO:0070554)	neurotransmitter transporter activity (GO:0005326)			kidney(1)|lung(2)	3				Colorectal(103;0.187)		TCCTTCTTGGCGGCGTCTGGG	0.657																																						uc003gbi.2		NA																	0					0						c.(91-93)GCC>TCC		complexin 1							53.0	60.0	57.0					4																	786337		2201	4297	6498	SO:0001583	missense	10815				glutamate secretion	cytosol		g.chr4:786337C>A	AF022383	CCDS46995.1	4p16.3	2008-08-07			ENSG00000168993	ENSG00000168993			2309	protein-coding gene	gene with protein product		605032				7553862	Standard	NM_006651		Approved	CPX-I	uc003gbi.3	O14810	OTTHUMG00000160005	ENST00000304062.6:c.91G>T	4.37:g.786337C>A	ENSP00000305613:p.Ala31Ser					CPLX1_uc003gbj.2_Missense_Mutation_p.A31S	p.A31S	NM_006651	NP_006642	O14810	CPLX1_HUMAN		Colorectal(103;0.187)	3	282	-			31			Potential.		A6NI80|B2R4R5|D3DVN3|F1T0G1	Missense_Mutation	SNP	ENST00000304062.6	37	c.91G>T	CCDS46995.1	.	.	.	.	.	.	.	.	.	.	c	19.10	3.761280	0.69763	.	.	ENSG00000168993	ENST00000304062;ENST00000505203;ENST00000504062;ENST00000513195	.	.	.	3.57	3.57	0.40892	.	.	.	.	.	T	0.39989	0.1099	L	0.46157	1.445	0.35043	D	0.759942	P;P	0.34815	0.47;0.47	B;B	0.33799	0.17;0.17	T	0.41734	-0.9492	8	0.11182	T	0.66	.	9.205	0.37285	0.0:0.777:0.223:0.0	.	31;31	D6RI11;O14810	.;CPLX1_HUMAN	S	31;31;16;114	.	ENSP00000305613:A31S	A	-	1	0	CPLX1	776337	0.501000	0.26099	0.898000	0.35279	0.943000	0.58893	0.954000	0.29175	2.009000	0.58944	0.537000	0.68136	GCC		0.657	CPLX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358830.1			31	113	1	0	4.32e-10	5.45e-10	31	113				
ZFYVE28	57732	broad.mit.edu	37	4	2306406	2306406	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:2306406G>T	ENST00000290974.2	-	8	2000	c.1661C>A	c.(1660-1662)aCt>aAt	p.T554N	RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.T524N|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.T484N	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	554					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GGTGGCCCCAGTGCTAAGCTT	0.687																																						uc003gex.1		NA																	0				skin(2)|ovary(1)	3						c.(1660-1662)ACT>AAT		zinc finger, FYVE domain containing 28							32.0	31.0	31.0					4																	2306406		2202	4300	6502	SO:0001583	missense	57732				negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr4:2306406G>T	AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"""Zinc fingers, FYVE domain containing"""	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.1661C>A	4.37:g.2306406G>T	ENSP00000290974:p.Thr554Asn					ZFYVE28_uc011bvk.1_Missense_Mutation_p.T484N|ZFYVE28_uc011bvl.1_Missense_Mutation_p.T524N|ZFYVE28_uc003gew.1_Missense_Mutation_p.T440N	p.T554N	NM_020972	NP_066023	Q9HCC9	LST2_HUMAN			8	1980	-			554					B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Missense_Mutation	SNP	ENST00000290974.2	37	c.1661C>A	CCDS33942.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.998650	0.54147	.	.	ENSG00000159733	ENST00000290974;ENST00000511071;ENST00000515312	T;T;T	0.58358	0.34;0.34;0.34	4.4	2.42	0.29668	.	0.618127	0.16341	N	0.218698	T	0.35828	0.0945	L	0.44542	1.39	0.29206	N	0.874905	B;P	0.39665	0.358;0.682	B;B	0.37015	0.109;0.239	T	0.17107	-1.0380	10	0.23891	T	0.37	.	2.7255	0.05212	0.2476:0.292:0.4604:0.0	.	524;554	Q9HCC9-2;Q9HCC9	.;LST2_HUMAN	N	554;524;484	ENSP00000290974:T554N;ENSP00000425706:T524N;ENSP00000426299:T484N	ENSP00000290974:T554N	T	-	2	0	ZFYVE28	2276204	0.086000	0.21541	0.002000	0.10522	0.115000	0.19883	2.862000	0.48388	1.044000	0.40200	0.460000	0.39030	ACT		0.687	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360078.1	XM_035371		7	51	1	0	7.48e-07	8.86e-07	7	51				
NOP14	8602	broad.mit.edu	37	4	2940652	2940652	+	Missense_Mutation	SNP	G	G	A	rs371429680		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:2940652G>A	ENST00000314262.6	-	18	2528	c.2480C>T	c.(2479-2481)gCg>gTg	p.A827V	NOP14_ENST00000507120.1_Intron|NOP14-AS1_ENST00000505731.1_RNA|NOP14-AS1_ENST00000507702.1_RNA|NOP14-AS1_ENST00000512712.2_RNA|NOP14_ENST00000416614.2_Missense_Mutation_p.A827V|NOP14_ENST00000502735.1_Intron|NOP14-AS1_ENST00000512802.1_RNA|NOP14-AS1_ENST00000507999.1_RNA|NOP14-AS1_ENST00000515194.1_RNA|NOP14_ENST00000398071.4_Intron|NOP14-AS1_ENST00000503709.1_RNA	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	827					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|membrane (GO:0016020)|mitochondrion (GO:0005739)|Noc4p-Nop14p complex (GO:0030692)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						CTTTCTTTCCGCATCCCTAAA	0.428																																						uc003ggj.1		NA																	0				pancreas(1)	1						c.(2479-2481)GCG>GTG		probable nucleolar complex protein 14		G	VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	80.0	86.0	84.0		2480	6.0	0.9	4		84	1,8599	1.2+/-3.3	0,1,4299	no	missense	NOP14	NM_003703.1	64	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	possibly-damaging	827/858	2940652	3,13003	2203	4300	6503	SO:0001583	missense	8602				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding	g.chr4:2940652G>A	AB000467	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269			16821	protein-coding gene	gene with protein product	"""NOP14 homolog (S. cerevisiae)"""	611526	"""chromosome 4 open reading frame 9"", ""nucleolar protein 14"", ""nucleolar protein 14 homolog (yeast)"", ""NOP14 nucleolar protein homolog (yeast)"""	C4orf9, NOL14		9734812, 11694595	Standard	XR_241655		Approved	RES4-25, UTP2	uc003ggj.1	P78316	OTTHUMG00000159911	ENST00000314262.6:c.2480C>T	4.37:g.2940652G>A	ENSP00000315674:p.Ala827Val					C4orf10_uc003ggd.1_Intron|C4orf10_uc003gge.1_Intron|C4orf10_uc003ggg.1_Intron|C4orf10_uc003ggh.2_Intron|C4orf10_uc003ggi.1_Intron|NOP14_uc010icp.2_Intron|NOP14_uc003ggk.3_Intron|NOP14_uc003ggl.2_Missense_Mutation_p.A827V	p.A827V	NM_003703	NP_003694	P78316	NOP14_HUMAN			18	2552	-			827					D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Missense_Mutation	SNP	ENST00000314262.6	37	c.2480C>T	CCDS33945.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.811983	0.50527	4.54E-4	1.16E-4	ENSG00000087269	ENST00000416614;ENST00000314262	T;T	0.33654	1.4;1.4	5.97	5.97	0.96955	.	0.227351	0.39687	N	0.001292	T	0.48040	0.1478	M	0.76002	2.32	0.80722	D	1	D	0.57571	0.98	P	0.44394	0.448	T	0.54860	-0.8230	10	0.87932	D	0	-31.5195	20.428	0.99075	0.0:0.0:1.0:0.0	.	827	P78316	NOP14_HUMAN	V	827	ENSP00000405068:A827V;ENSP00000315674:A827V	ENSP00000315674:A827V	A	-	2	0	NOP14	2910450	1.000000	0.71417	0.916000	0.36221	0.166000	0.22503	8.921000	0.92784	2.837000	0.97791	0.655000	0.94253	GCG		0.428	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358135.2	NM_003703		4	134	0	0	0	0	4	134				
PI4K2B	55300	broad.mit.edu	37	4	25256888	25256888	+	Splice_Site	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:25256888G>A	ENST00000264864.6	+	3	813		c.e3+1		PI4K2B_ENST00000512921.1_Splice_Site	NM_018323.3	NP_060793.2	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta						phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				TAAAACAAAGGTAAGCCAGAC	0.403																																						uc003grk.2		NA																	0				ovary(2)|skin(2)	4						c.e3+1		phosphatidylinositol 4-kinase type 2 beta							59.0	61.0	60.0					4																	25256888		2203	4300	6503	SO:0001630	splice_region_variant	55300					cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding	g.chr4:25256888G>A	AK001967	CCDS3433.1	4p15.31	2009-05-07			ENSG00000038210	ENSG00000038210			18215	protein-coding gene	gene with protein product		612101				11923287	Standard	NM_018323		Approved	PI4KIIB, FLJ11105, PIK42B	uc003grk.2	Q8TCG2	OTTHUMG00000128564	ENST00000264864.6:c.624+1G>A	4.37:g.25256888G>A						PI4K2B_uc011bxs.1_Splice_Site_p.K112_splice	p.K208_splice	NM_018323	NP_060793	Q8TCG2	P4K2B_HUMAN			3	757	+		Breast(46;0.173)						Q9NUW2	Splice_Site	SNP	ENST00000264864.6	37	c.624_splice	CCDS3433.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.707653	0.48412	.	.	ENSG00000038210	ENST00000512921;ENST00000264864;ENST00000537420	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1184	0.97949	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PI4K2B	24865986	1.000000	0.71417	1.000000	0.80357	0.142000	0.21351	9.814000	0.99346	2.769000	0.95229	0.655000	0.94253	.		0.403	PI4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250415.1	NM_018323	Intron	29	107	0	0	0	0	29	107				
SEL1L3	23231	broad.mit.edu	37	4	25780751	25780751	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:25780751G>A	ENST00000399878.3	-	16	2654	c.2532C>T	c.(2530-2532)taC>taT	p.Y844Y	SEL1L3_ENST00000264868.5_Silent_p.Y809Y|SEL1L3_ENST00000502949.1_Silent_p.Y691Y	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	844						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						CTGTGATATAGTAGAGAGAAC	0.443																																						uc003gru.3		NA																	0					0						c.(2530-2532)TAC>TAT		sel-1 suppressor of lin-12-like 3							151.0	140.0	144.0					4																	25780751		1967	4146	6113	SO:0001819	synonymous_variant	23231					integral to membrane	binding	g.chr4:25780751G>A	BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"""KIAA0746 protein"""					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.2532C>T	4.37:g.25780751G>A						SEL1L3_uc003grv.2_Silent_p.Y251Y	p.Y844Y	NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN			16	2684	-			844			Sel1-like 7.		A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Silent	SNP	ENST00000399878.3	37	c.2532C>T	CCDS47037.1																																																																																				0.443	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187		24	114	0	0	0	0	24	114				
TMEM165	55858	broad.mit.edu	37	4	56283323	56283323	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:56283323G>C	ENST00000381334.5	+	3	751	c.518G>C	c.(517-519)aGa>aCa	p.R173T	TMEM165_ENST00000506198.1_Intron|TMEM165_ENST00000514904.1_3'UTR|TMEM165_ENST00000542052.1_Missense_Mutation_p.R110T	NM_018475.4	NP_060945.2	Q9HC07	TM165_HUMAN	transmembrane protein 165	173					cellular calcium ion homeostasis (GO:0006874)|Golgi calcium ion transport (GO:0032472)|protein N-linked glycosylation (GO:0006487)|regulation of lysosomal lumen pH (GO:0035751)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				endometrium(1)|kidney(1)|large_intestine(2)	4	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)			TTTGGCATTAGAATGCTTCGG	0.398																																						uc003hax.2		NA																	0					0						c.(517-519)AGA>ACA		transmembrane protein 165							111.0	108.0	109.0					4																	56283323		2203	4300	6503	SO:0001583	missense	55858					integral to membrane		g.chr4:56283323G>C	AF183409	CCDS3499.1	4q12	2014-03-13			ENSG00000134851	ENSG00000134851			30760	protein-coding gene	gene with protein product	"""TPA regulated locus"""	614726				3202867, 22683087, 23575229	Standard	NM_018475		Approved	TMPT27, TPARL, GDT1	uc003hax.3	Q9HC07	OTTHUMG00000128735	ENST00000381334.5:c.518G>C	4.37:g.56283323G>C	ENSP00000370736:p.Arg173Thr					TMEM165_uc011bzy.1_Missense_Mutation_p.R110T	p.R173T	NM_018475	NP_060945	Q9HC07	TM165_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)		3	785	+	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		173					A8K3P8|B4DHW1|Q9BTN9|Q9NZ34	Missense_Mutation	SNP	ENST00000381334.5	37	c.518G>C	CCDS3499.1	.	.	.	.	.	.	.	.	.	.	G	35	5.535023	0.96460	.	.	ENSG00000134851	ENST00000381334;ENST00000542052	D;D	0.83163	-1.69;-1.67	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.89329	0.6684	M	0.78456	2.415	0.80722	D	1	P;D	0.55605	0.952;0.972	P;P	0.53266	0.722;0.632	D	0.88748	0.3248	10	0.52906	T	0.07	-19.8652	20.6593	0.99626	0.0:0.0:1.0:0.0	.	110;173	B4DHW1;Q9HC07	.;TM165_HUMAN	T	173;110	ENSP00000370736:R173T;ENSP00000437816:R110T	ENSP00000370736:R173T	R	+	2	0	TMEM165	55978080	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.476000	0.97823	2.885000	0.99019	0.655000	0.94253	AGA		0.398	TMEM165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250646.4	NM_018475		37	178	0	0	0	0	37	178				
TMEM165	55858	broad.mit.edu	37	4	56283406	56283406	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:56283406G>C	ENST00000381334.5	+	3	834	c.601G>C	c.(601-603)Gat>Cat	p.D201H	TMEM165_ENST00000506198.1_Intron|TMEM165_ENST00000514904.1_3'UTR|TMEM165_ENST00000542052.1_Missense_Mutation_p.D138H	NM_018475.4	NP_060945.2	Q9HC07	TM165_HUMAN	transmembrane protein 165	201					cellular calcium ion homeostasis (GO:0006874)|Golgi calcium ion transport (GO:0032472)|protein N-linked glycosylation (GO:0006487)|regulation of lysosomal lumen pH (GO:0035751)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				endometrium(1)|kidney(1)|large_intestine(2)	4	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)			AAAGAAGAAAGATGAAGAAGT	0.438																																						uc003hax.2		NA																	0					0						c.(601-603)GAT>CAT		transmembrane protein 165							57.0	56.0	56.0					4																	56283406		2203	4300	6503	SO:0001583	missense	55858					integral to membrane		g.chr4:56283406G>C	AF183409	CCDS3499.1	4q12	2014-03-13			ENSG00000134851	ENSG00000134851			30760	protein-coding gene	gene with protein product	"""TPA regulated locus"""	614726				3202867, 22683087, 23575229	Standard	NM_018475		Approved	TMPT27, TPARL, GDT1	uc003hax.3	Q9HC07	OTTHUMG00000128735	ENST00000381334.5:c.601G>C	4.37:g.56283406G>C	ENSP00000370736:p.Asp201His					TMEM165_uc011bzy.1_Missense_Mutation_p.D138H	p.D201H	NM_018475	NP_060945	Q9HC07	TM165_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)		3	868	+	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		201					A8K3P8|B4DHW1|Q9BTN9|Q9NZ34	Missense_Mutation	SNP	ENST00000381334.5	37	c.601G>C	CCDS3499.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.008833	0.93346	.	.	ENSG00000134851	ENST00000381334;ENST00000542052	D;D	0.84223	-1.82;-1.79	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.92277	0.7550	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	0.994;1.0	P;D	0.72982	0.868;0.979	D	0.92077	0.5669	10	0.72032	D	0.01	-24.44	20.3206	0.98668	0.0:0.0:1.0:0.0	.	138;201	B4DHW1;Q9HC07	.;TM165_HUMAN	H	201;138	ENSP00000370736:D201H;ENSP00000437816:D138H	ENSP00000370736:D201H	D	+	1	0	TMEM165	55978163	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.476000	0.97823	2.809000	0.96659	0.655000	0.94253	GAT		0.438	TMEM165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250646.4	NM_018475		26	118	0	0	0	0	26	118				
NPFFR2	10886	broad.mit.edu	37	4	72897871	72897871	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:72897871G>A	ENST00000308744.6	+	1	351	c.253G>A	c.(253-255)Gct>Act	p.A85T	NPFFR2_ENST00000344413.5_Missense_Mutation_p.A85T	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	85					detection of abiotic stimulus (GO:0009582)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of adenylate cyclase activity (GO:0045761)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of MAPK cascade (GO:0043408)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			CTGCAGACGGGCTTGGTGGAT	0.672																																						uc003hgg.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(253-255)GCT>ACT		neuropeptide FF receptor 2 isoform 1							38.0	43.0	41.0					4																	72897871		2203	4300	6503	SO:0001583	missense	10886				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	g.chr4:72897871G>A	AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291		"""GPCR / Class A :  Neuropeptide receptors : FF/AF"", ""GPCR / Class A : RF amide peptide receptors"""	4525	protein-coding gene	gene with protein product	"""neuropeptide FF 2"""	607449	"""G protein-coupled receptor 74"""	GPR74		10079187, 10851242	Standard	NM_001144756		Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.253G>A	4.37:g.72897871G>A	ENSP00000307822:p.Ala85Thr					NPFFR2_uc010iig.1_5'UTR	p.A85T	NM_004885	NP_004876	Q9Y5X5	NPFF2_HUMAN	Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)		1	351	+			85			Extracellular (Potential).		Q96RV1|Q9NR49	Missense_Mutation	SNP	ENST00000308744.6	37	c.253G>A	CCDS3551.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.795245	0.31777	.	.	ENSG00000056291	ENST00000308744;ENST00000344413	T	0.73789	-0.78	2.98	1.23	0.21249	.	.	.	.	.	T	0.50017	0.1591	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.36187	-0.9758	9	0.41790	T	0.15	.	4.7544	0.13077	0.2977:0.0:0.7023:0.0	.	85	Q9Y5X5	NPFF2_HUMAN	T	85	ENSP00000307822:A85T	ENSP00000307822:A85T	A	+	1	0	NPFFR2	73116735	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.129000	0.10515	0.314000	0.23086	0.491000	0.48974	GCT		0.672	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252170.2	NM_004885		14	29	0	0	0	0	14	29				
NPFFR2	10886	broad.mit.edu	37	4	73012843	73012843	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:73012843A>G	ENST00000308744.6	+	4	981	c.883A>G	c.(883-885)Aga>Gga	p.R295G	NPFFR2_ENST00000395999.1_Missense_Mutation_p.R196G|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000358749.3_Missense_Mutation_p.R193G	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	295					detection of abiotic stimulus (GO:0009582)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of adenylate cyclase activity (GO:0045761)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of MAPK cascade (GO:0043408)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			TTACCGAGTGAGACTCAACTC	0.438																																						uc003hgg.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(883-885)AGA>GGA		neuropeptide FF receptor 2 isoform 1							134.0	131.0	132.0					4																	73012843		2203	4300	6503	SO:0001583	missense	10886				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	g.chr4:73012843A>G	AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291		"""GPCR / Class A :  Neuropeptide receptors : FF/AF"", ""GPCR / Class A : RF amide peptide receptors"""	4525	protein-coding gene	gene with protein product	"""neuropeptide FF 2"""	607449	"""G protein-coupled receptor 74"""	GPR74		10079187, 10851242	Standard	NM_001144756		Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.883A>G	4.37:g.73012843A>G	ENSP00000307822:p.Arg295Gly					NPFFR2_uc010iig.1_Missense_Mutation_p.R77G|NPFFR2_uc003hgi.2_Missense_Mutation_p.R196G|NPFFR2_uc003hgh.2_Missense_Mutation_p.R193G|NPFFR2_uc003hgj.2_RNA	p.R295G	NM_004885	NP_004876	Q9Y5X5	NPFF2_HUMAN	Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)		4	981	+			295			Extracellular (Potential).		Q96RV1|Q9NR49	Missense_Mutation	SNP	ENST00000308744.6	37	c.883A>G	CCDS3551.1	.	.	.	.	.	.	.	.	.	.	A	3.357	-0.131212	0.06753	.	.	ENSG00000056291	ENST00000308744;ENST00000395999;ENST00000358749	T;T;T	0.33654	1.4;1.4;1.4	5.91	4.67	0.58626	GPCR, rhodopsin-like superfamily (1);	0.437359	0.21995	N	0.066081	T	0.25195	0.0612	L	0.38838	1.175	0.09310	N	1	B;P	0.38195	0.284;0.622	B;B	0.39027	0.104;0.288	T	0.10847	-1.0612	10	0.21540	T	0.41	.	5.3113	0.15831	0.6996:0.1557:0.1447:0.0	.	196;295	Q9Y5X5-3;Q9Y5X5	.;NPFF2_HUMAN	G	295;196;193	ENSP00000307822:R295G;ENSP00000379321:R196G;ENSP00000351599:R193G	ENSP00000307822:R295G	R	+	1	2	NPFFR2	73231707	0.000000	0.05858	0.970000	0.41538	0.085000	0.17905	0.446000	0.21694	2.252000	0.74401	0.533000	0.62120	AGA		0.438	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252170.2	NM_004885		87	212	0	0	0	0	87	212				
RASGEF1B	153020	broad.mit.edu	37	4	82380494	82380494	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:82380494A>T	ENST00000264400.2	-	2	320	c.169T>A	c.(169-171)Tat>Aat	p.Y57N	RASGEF1B_ENST00000335927.7_Missense_Mutation_p.Y57N|RASGEF1B_ENST00000436139.2_Missense_Mutation_p.Y57N|RASGEF1B_ENST00000509081.1_Missense_Mutation_p.Y57N|RASGEF1B_ENST00000514889.1_5'Flank	NM_152545.1	NP_689758.1	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	57	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						ACATCTGGATAGTAATCCACA	0.428																																						uc003hmi.1		NA																	0					0						c.(169-171)TAT>AAT		RasGEF domain family, member 1B							118.0	119.0	119.0					4																	82380494		2203	4300	6503	SO:0001583	missense	153020				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr4:82380494A>T	AK056257	CCDS34022.1, CCDS75151.1, CCDS75152.1	4q21.21	2013-09-24				ENSG00000138670			24881	protein-coding gene	gene with protein product		614532				12488504	Standard	XM_005262776		Approved	GPIG4, FLJ31695	uc003hmi.1	Q0VAM2		ENST00000264400.2:c.169T>A	4.37:g.82380494A>T	ENSP00000264400:p.Tyr57Asn					RASGEF1B_uc003hmj.1_Missense_Mutation_p.Y57N|RASGEF1B_uc010ijq.1_Missense_Mutation_p.Y57N|RASGEF1B_uc003hmk.2_Missense_Mutation_p.Y57N	p.Y57N	NM_152545	NP_689758	Q0VAM2	RGF1B_HUMAN			2	313	-			57			N-terminal Ras-GEF.		Q0VAM1|Q4W5L7|Q4W5M3|Q96MY8	Missense_Mutation	SNP	ENST00000264400.2	37	c.169T>A	CCDS34022.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.334389	0.81801	.	.	ENSG00000138670	ENST00000509081;ENST00000264400;ENST00000335927;ENST00000436139;ENST00000395570	T;T;T;T	0.31510	1.49;1.49;1.6;1.49	5.26	5.26	0.73747	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.59851	0.2224	M	0.85859	2.78	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.997;0.998	D;D;D;D	0.97110	0.991;1.0;0.986;0.985	T	0.65100	-0.6250	10	0.52906	T	0.07	.	14.9877	0.71362	1.0:0.0:0.0:0.0	.	57;57;57;57	Q0VAM2-2;Q8N437;Q0VAM2-3;Q0VAM2	.;.;.;RGF1B_HUMAN	N	57	ENSP00000425393:Y57N;ENSP00000264400:Y57N;ENSP00000338437:Y57N;ENSP00000398763:Y57N	ENSP00000264400:Y57N	Y	-	1	0	RASGEF1B	82599518	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	8.734000	0.91543	2.213000	0.71641	0.482000	0.46254	TAT		0.428	RASGEF1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362830.1	NM_152545		89	173	0	0	0	0	89	173				
AFF1	4299	broad.mit.edu	37	4	88036203	88036203	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:88036203G>A	ENST00000307808.6	+	11	2617	c.2197G>A	c.(2197-2199)Gac>Aac	p.D733N	AFF1_ENST00000395146.4_Missense_Mutation_p.D740N|AFF1_ENST00000544085.1_Missense_Mutation_p.D371N	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	733					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GGTCCAGGAGGACAGCCGCAA	0.607																																						uc003hqj.3		NA																	0				breast(1)	1						c.(2197-2199)GAC>AAC		myeloid/lymphoid or mixed-lineage leukemia							61.0	58.0	59.0					4																	88036203		2203	4300	6503	SO:0001583	missense	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:88036203G>A	L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.2197G>A	4.37:g.88036203G>A	ENSP00000305689:p.Asp733Asn					AFF1_uc011ccz.1_Missense_Mutation_p.D740N|AFF1_uc003hqk.3_Missense_Mutation_p.D733N|AFF1_uc011cda.1_Missense_Mutation_p.D371N	p.D733N	NM_005935	NP_005926	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	11	2604	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	733					B4DTU1|E9PBM3	Missense_Mutation	SNP	ENST00000307808.6	37	c.2197G>A	CCDS3616.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.728456	0.48833	.	.	ENSG00000172493	ENST00000395146;ENST00000541943;ENST00000307808;ENST00000544085	T;T;T	0.66280	-0.2;-0.2;-0.2	5.79	4.9	0.64082	.	0.522123	0.21013	N	0.081659	T	0.54382	0.1855	M	0.65498	2.005	0.21220	N	0.999752	B;B;B	0.30068	0.267;0.267;0.267	B;B;B	0.24701	0.055;0.055;0.055	T	0.42396	-0.9454	10	0.17369	T	0.5	-12.005	9.7952	0.40731	0.0726:0.1412:0.7863:0.0	.	740;733;733	E9PBM3;Q14C88;P51825	.;.;AFF1_HUMAN	N	740;392;733;371	ENSP00000378578:D740N;ENSP00000305689:D733N;ENSP00000440843:D371N	ENSP00000305689:D733N	D	+	1	0	AFF1	88255227	1.000000	0.71417	0.971000	0.41717	0.992000	0.81027	2.197000	0.42696	2.749000	0.94314	0.491000	0.48974	GAC		0.607	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935		16	30	0	0	0	0	16	30				
ZGRF1	55345	broad.mit.edu	37	4	113540786	113540786	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:113540786C>A	ENST00000505019.1	-	6	537	c.412G>T	c.(412-414)Gct>Tct	p.A138S	C4orf21_ENST00000445203.2_Missense_Mutation_p.A107S|C4orf21_ENST00000309071.5_Missense_Mutation_p.A138S	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		138						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)		TGTGATGCAGCTGATTCACCA	0.388																																						uc003iau.2		NA																	0					0						c.(412-414)GCT>TCT		prematurely terminated mRNA decay factor-like							68.0	73.0	71.0					4																	113540786		2199	4297	6496	SO:0001583	missense	55345					integral to membrane	zinc ion binding	g.chr4:113540786C>A																												ENST00000505019.1:c.412G>T	4.37:g.113540786C>A	ENSP00000424737:p.Ala138Ser					C4orf21_uc003iaw.2_Missense_Mutation_p.A138S	p.A138S	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	6	623	-		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.412G>T		.	.	.	.	.	.	.	.	.	.	C	14.37	2.514327	0.44763	.	.	ENSG00000138658	ENST00000505019;ENST00000309071;ENST00000445203;ENST00000503172	D;T;T	0.83755	-1.76;1.75;1.33	5.43	-2.04	0.07343	.	0.931333	0.08995	N	0.863827	T	0.80737	0.4680	M	0.69823	2.125	0.09310	N	1	P;P	0.46395	0.877;0.86	B;P	0.44561	0.265;0.453	T	0.70285	-0.4914	10	0.52906	T	0.07	-1.2226	6.5076	0.22204	0.0:0.3176:0.3094:0.373	.	138;138	Q86YA3;G5EA02	CD021_HUMAN;.	S	138;138;107;138	ENSP00000424737:A138S;ENSP00000309095:A138S;ENSP00000390505:A107S	ENSP00000309095:A138S	A	-	1	0	C4orf21	113760235	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.256000	0.08757	-0.571000	0.06014	-0.282000	0.10007	GCT		0.388	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			37	105	1	0	4.18e-13	5.5e-13	37	105				
ANK2	287	broad.mit.edu	37	4	114238951	114238951	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:114238951A>G	ENST00000357077.4	+	25	2835	c.2782A>G	c.(2782-2784)Att>Gtt	p.I928V	ANK2_ENST00000509550.1_Missense_Mutation_p.I137V|ANK2_ENST00000394537.3_Missense_Mutation_p.I928V|ANK2_ENST00000264366.6_Missense_Mutation_p.I928V|ANK2_ENST00000506722.1_Missense_Mutation_p.I907V	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	928					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTCAGTTGTGATTCCCAGTCA	0.473																																						uc003ibe.3		NA																	0				central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(2782-2784)ATT>GTT		ankyrin 2 isoform 1							175.0	143.0	154.0					4																	114238951		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114238951A>G	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.2782A>G	4.37:g.114238951A>G	ENSP00000349588:p.Ile928Val					ANK2_uc003ibd.3_Missense_Mutation_p.I907V|ANK2_uc003ibf.3_Missense_Mutation_p.I928V|ANK2_uc011cgc.1_Missense_Mutation_p.I137V|ANK2_uc003ibg.3_5'Flank|ANK2_uc003ibc.2_Missense_Mutation_p.I904V|ANK2_uc011cgb.1_Missense_Mutation_p.I943V	p.I928V	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	25	2882	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	928					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.2782A>G	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	A	11.24	1.579718	0.28180	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000431447;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550	T;T;T;T;T;T;T;T	0.75704	-0.05;0.04;-0.14;-0.05;-0.13;-0.17;-0.23;-0.96	6.06	4.89	0.63831	.	0.000000	0.64402	D	0.000017	T	0.74061	0.3667	L	0.56769	1.78	0.80722	D	1	B;P;B;P;B;B	0.49358	0.07;0.92;0.055;0.923;0.264;0.103	B;P;B;P;B;B	0.48454	0.024;0.492;0.061;0.578;0.108;0.271	T	0.70321	-0.4904	10	0.23302	T	0.38	.	11.926	0.52819	0.9327:0.0:0.0673:0.0	.	137;928;928;928;907;907	E9PCH6;Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	.;ANK2_HUMAN;.;.;.;.	V	907;874;907;7;943;928;928;928;907;137	ENSP00000423799:I907V;ENSP00000421011:I874V;ENSP00000421067:I907V;ENSP00000424722:I943V;ENSP00000378044:I928V;ENSP00000349588:I928V;ENSP00000264366:I928V;ENSP00000426944:I137V	ENSP00000264366:I928V	I	+	1	0	ANK2	114458400	1.000000	0.71417	0.980000	0.43619	0.963000	0.63663	3.569000	0.53827	1.120000	0.41904	0.528000	0.53228	ATT		0.473	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		37	69	0	0	0	0	37	69				
GYPB	2994	broad.mit.edu	37	4	145039886	145039886	+	Intron	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:145039886G>T	ENST00000283126.7	-	1	93				RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000360771.4_Silent_p.A84A|GYPA_ENST00000512789.1_Silent_p.A19A|GYPA_ENST00000504786.1_Silent_p.A52A|GYPA_ENST00000512064.1_Intron|GYPA_ENST00000324022.10_Silent_p.A51A|GYPA_ENST00000503627.1_Intron|GYPA_ENST00000535709.1_Silent_p.A58A			P06028	GLPB_HUMAN	glycophorin B (MNS blood group)							integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|large_intestine(2)|skin(1)	4	all_hematologic(180;0.158)					AGAAATGATGGGCAAGTTGTA	0.313																																						uc003ijo.3		NA																	0		p.A84T(1)		central_nervous_system(2)	2						c.(250-252)GCC>GCA		glycophorin A precursor							108.0	107.0	108.0					4																	145039886		2203	4300	6503	SO:0001627	intron_variant	2993				interspecies interaction between organisms	membrane fraction	receptor activity	g.chr4:145039886G>T		CCDS54809.1	4q31.21	2014-09-17	2006-02-23			ENSG00000250361		"""CD molecules"", ""Blood group antigens"""	4703	protein-coding gene	gene with protein product		111740	"""glycophorin B (includes Ss blood group)"", ""glycophorin B (Ss blood group)"""	MNS			Standard	NM_002100		Approved	GPB, SS, CD235b		P06028		ENST00000283126.7:c.37+21865C>A	4.37:g.145039886G>T						GYPA_uc003ijn.2_Silent_p.A84A|GYPA_uc011cia.1_RNA|GYPA_uc011cib.1_Silent_p.A51A|GYPA_uc003ijp.3_Silent_p.A52A|GYPA_uc010ioq.2_Intron|GYPA_uc010ior.2_Silent_p.A19A|GYPA_uc010ios.1_Intron	p.A84A	NM_002099	NP_002090	P02724	GLPA_HUMAN			4	368	-	all_hematologic(180;0.15)		84		A -> P (in ENEP/HAG antigen).	Extracellular.		B8Q174|E2QBW7|Q0VAF4|Q58HE9|Q58HF0|Q58HF1|Q9UCH7	Silent	SNP	ENST00000283126.7	37	c.252C>A																																																																																					0.313	GYPB-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_002100		44	129	1	0	8.3e-39	1.25e-38	44	129				
DCHS2	54798	broad.mit.edu	37	4	155256095	155256095	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:155256095T>A	ENST00000357232.4	-	8	1140	c.1141A>T	c.(1141-1143)Aag>Tag	p.K381*	DCHS2_ENST00000507542.1_5'UTR|DCHS2_ENST00000339452.1_Nonsense_Mutation_p.K880*	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	381	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.|Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AAAGTGTACTTAGGCCTTTCA	0.448																																						uc003inw.2		NA																	0				ovary(3)|pancreas(1)	4						c.(1141-1143)AAG>TAG		dachsous 2 isoform 1							105.0	103.0	104.0					4																	155256095		2203	4300	6503	SO:0001587	stop_gained	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155256095T>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.1141A>T	4.37:g.155256095T>A	ENSP00000349768:p.Lys381*					DCHS2_uc003inx.2_Nonsense_Mutation_p.K880*	p.K381*	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	8	1141	-	all_hematologic(180;0.208)	Renal(120;0.0854)	381			Cadherin 3.|Cadherin 2.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Nonsense_Mutation	SNP	ENST00000357232.4	37	c.1141A>T	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	T	42	9.364215	0.99148	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	.	.	.	6.17	3.74	0.42951	.	0.177192	0.39274	N	0.001403	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.396	0.11363	0.1137:0.07:0.4251:0.3912	.	.	.	.	X	381;880;880	.	ENSP00000345062:K880X	K	-	1	0	DCHS2	155475545	0.853000	0.29707	0.883000	0.34634	0.572000	0.35998	2.371000	0.44248	1.116000	0.41820	0.533000	0.62120	AAG		0.448	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		60	115	0	0	0	0	60	115				
DDX60	55601	broad.mit.edu	37	4	169201720	169201720	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:169201720C>A	ENST00000393743.3	-	14	2035	c.1744G>T	c.(1744-1746)Gct>Tct	p.A582S		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	582					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TTCTCTCTAGCAATTATTTCA	0.348																																						uc003irp.2		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1744-1746)GCT>TCT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60							46.0	47.0	47.0					4																	169201720		2203	4300	6503	SO:0001583	missense	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169201720C>A	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.1744G>T	4.37:g.169201720C>A	ENSP00000377344:p.Ala582Ser						p.A582S	NM_017631	NP_060101	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	14	2036	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	582					Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	c.1744G>T	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	T	6.321	0.427309	0.11987	.	.	ENSG00000137628	ENST00000393743	T	0.18810	2.19	5.58	-9.69	0.00524	.	1.297200	0.04861	N	0.444220	T	0.15825	0.0381	L	0.29908	0.895	0.09310	N	1	B	0.14805	0.011	B	0.08055	0.003	T	0.47156	-0.9139	10	0.09590	T	0.72	.	22.4716	0.99972	0.0:0.6713:0.0:0.3287	.	582	Q8IY21	DDX60_HUMAN	S	582	ENSP00000377344:A582S	ENSP00000377344:A582S	A	-	1	0	DDX60	169438295	0.000000	0.05858	0.000000	0.03702	0.090000	0.18270	-2.301000	0.01137	-2.644000	0.00427	-2.094000	0.00368	GCT		0.348	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		20	57	1	0	0.000229342	0.000253114	20	57				
DDX60L	91351	broad.mit.edu	37	4	169348297	169348297	+	Silent	SNP	A	A	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:169348297A>G	ENST00000511577.1	-	14	2101	c.1854T>C	c.(1852-1854)aaT>aaC	p.N618N	DDX60L_ENST00000505890.1_Silent_p.N618N|DDX60L_ENST00000260184.7_Silent_p.N618N			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	618							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		ATTTCACTGAATTACTTGCAC	0.353																																						uc003irq.3		NA																	0				ovary(1)	1						c.(1852-1854)AAT>AAC		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							98.0	86.0	90.0					4																	169348297		1854	4098	5952	SO:0001819	synonymous_variant	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169348297A>G	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.1854T>C	4.37:g.169348297A>G						DDX60L_uc003irr.1_Silent_p.N618N|DDX60L_uc003irs.1_Silent_p.N345N	p.N618N	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	14	2075	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	618					Q96ND6	Silent	SNP	ENST00000511577.1	37	c.1854T>C																																																																																					0.353	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		14	26	0	0	0	0	14	26				
ADAM29	11086	broad.mit.edu	37	4	175896751	175896751	+	Silent	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:175896751C>T	ENST00000359240.3	+	5	745	c.75C>T	c.(73-75)ccC>ccT	p.P25P	ADAM29_ENST00000445694.1_Silent_p.P25P|ADAM29_ENST00000404450.4_Silent_p.P25P|ADAM29_ENST00000514159.1_Silent_p.P25P|RP13-577H12.2_ENST00000507525.1_RNA	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	25					spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		ATGAGCACCCCCAATATCACA	0.517																																					Ovarian(140;1727 1835 21805 25838 41440)	uc003iuc.2		NA																	0				skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16						c.(73-75)CCC>CCT		ADAM metallopeptidase domain 29 preproprotein							93.0	93.0	93.0					4																	175896751		2203	4300	6503	SO:0001819	synonymous_variant	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175896751C>T	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.75C>T	4.37:g.175896751C>T						ADAM29_uc003iud.2_Silent_p.P25P|ADAM29_uc010irr.2_Silent_p.P25P|ADAM29_uc011cki.1_Silent_p.P25P	p.P25P	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	745	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	25					Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Silent	SNP	ENST00000359240.3	37	c.75C>T	CCDS3823.1																																																																																				0.517	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				51	114	0	0	0	0	51	114				
ASB5	140458	broad.mit.edu	37	4	177142615	177142615	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:177142615T>C	ENST00000296525.3	-	4	634	c.521A>G	c.(520-522)gAg>gGg	p.E174G	ASB5_ENST00000511879.1_5'Flank|ASB5_ENST00000512254.1_Missense_Mutation_p.E121G	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	174					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		ACTGGCGGCCTCATGCGTTGG	0.493																																						uc003iuq.1		NA																	0				skin(2)	2						c.(520-522)GAG>GGG		ankyrin repeat and SOCS box-containing protein							117.0	117.0	117.0					4																	177142615		2203	4300	6503	SO:0001583	missense	140458				intracellular signal transduction			g.chr4:177142615T>C	AY057053	CCDS3827.1	4q34.1	2013-01-10	2011-01-25		ENSG00000164122	ENSG00000164122		"""Ankyrin repeat domain containing"""	17180	protein-coding gene	gene with protein product		615050	"""ankyrin repeat and SOCS box-containing 5"""				Standard	NM_080874		Approved		uc003iuq.2	Q8WWX0	OTTHUMG00000160793	ENST00000296525.3:c.521A>G	4.37:g.177142615T>C	ENSP00000296525:p.Glu174Gly					ASB5_uc003iup.1_Missense_Mutation_p.E121G	p.E174G	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)	4	537	-		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	174			ANK 4.		Q8N7B5	Missense_Mutation	SNP	ENST00000296525.3	37	c.521A>G	CCDS3827.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.215685	0.79352	.	.	ENSG00000164122	ENST00000296525;ENST00000512254	T;T	0.64438	0.61;-0.1	5.91	5.91	0.95273	Ankyrin repeat-containing domain (4);	0.047998	0.85682	D	0.000000	T	0.71846	0.3388	L	0.46614	1.455	0.80722	D	1	D;D	0.76494	0.997;0.999	P;D	0.68765	0.812;0.96	T	0.68138	-0.5488	10	0.26408	T	0.33	-11.2284	15.5264	0.75910	0.0:0.0:0.0:1.0	.	174;121	Q8WWX0;Q8N7B5	ASB5_HUMAN;.	G	174;121	ENSP00000296525:E174G;ENSP00000422877:E121G	ENSP00000296525:E174G	E	-	2	0	ASB5	177379609	1.000000	0.71417	1.000000	0.80357	0.401000	0.30781	7.211000	0.77933	2.261000	0.74972	0.533000	0.62120	GAG		0.493	ASB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362344.1			42	219	0	0	0	0	42	219				
NEIL3	55247	broad.mit.edu	37	4	178283595	178283595	+	Silent	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:178283595G>T	ENST00000264596.3	+	10	1906	c.1788G>T	c.(1786-1788)ggG>ggT	p.G596G		NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	596					base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		CAGAAAATGGGCCAGGAATAA	0.363								Base excision repair (BER), DNA glycosylases																														uc003iut.2		NA																	0				lung(2)|ovary(1)|central_nervous_system(1)	4						c.(1786-1788)GGG>GGT	BER_DNA_glycosylases	nei endonuclease VIII-like 3							66.0	74.0	71.0					4																	178283595		2203	4300	6503	SO:0001819	synonymous_variant	55247				base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding	g.chr4:178283595G>T	AB079071	CCDS3828.1	4q34	2014-02-18			ENSG00000109674	ENSG00000109674			24573	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 3"""	608934				12713815, 12509226	Standard	NM_018248		Approved	FLJ10858, hFPG2, FPG2, hNEI3, ZGRF3	uc003iut.2	Q8TAT5	OTTHUMG00000160722	ENST00000264596.3:c.1788G>T	4.37:g.178283595G>T							p.G596G	NM_018248	NP_060718	Q8TAT5	NEIL3_HUMAN		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)	10	1905	+		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)	596					Q2PPJ3|Q8NG51|Q9NV95	Silent	SNP	ENST00000264596.3	37	c.1788G>T	CCDS3828.1																																																																																				0.363	NEIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361914.1	NM_018248		51	123	1	0	1.04e-30	1.53e-30	51	123				
LPCAT1	79888	broad.mit.edu	37	5	1474683	1474683	+	Silent	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:1474683C>A	ENST00000283415.3	-	10	1149	c.1017G>T	c.(1015-1017)cgG>cgT	p.R339R		NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	339					cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|negative regulation of phosphatidylcholine biosynthetic process (GO:2001246)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|positive regulation of protein catabolic process (GO:0045732)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|surfactant homeostasis (GO:0043129)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphocholine O-acyltransferase activity (GO:0047159)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|1-alkylglycerophosphocholine O-acyltransferase activity (GO:0047191)|calcium ion binding (GO:0005509)	p.R339R(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		ACCCGAGGCCCCGCACGAGCC	0.612																																						uc003jcm.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1015-1017)CGG>CGT		lysophosphatidylcholine acyltransferase 1							38.0	39.0	39.0					5																	1474683		2203	4300	6503	SO:0001819	synonymous_variant	79888				phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding	g.chr5:1474683C>A	BC020166	CCDS3864.1	5p15.33	2013-01-10	2007-12-17	2007-12-17	ENSG00000153395	ENSG00000153395		"""EF-hand domain containing"""	25718	protein-coding gene	gene with protein product		610472	"""acyltransferase like 2"""	AYTL2		8619474, 16704971	Standard	NM_024830		Approved	FLJ12443	uc003jcm.3	Q8NF37	OTTHUMG00000131017	ENST00000283415.3:c.1017G>T	5.37:g.1474683C>A							p.R339R	NM_024830	NP_079106	Q8NF37	PCAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)	10	1134	-			339			Lumenal (Potential).		Q1HAQ1|Q7Z4G6|Q8N3U7|Q8WUL8|Q9GZW6	Silent	SNP	ENST00000283415.3	37	c.1017G>T	CCDS3864.1																																																																																				0.612	LPCAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304032.1	NM_024830		24	24	1	0	9.86e-18	1.36e-17	24	24				
ADCY2	108	broad.mit.edu	37	5	7727344	7727344	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:7727344T>A	ENST00000338316.4	+	14	1930	c.1841T>A	c.(1840-1842)aTc>aAc	p.I614N	ADCY2_ENST00000537121.1_Missense_Mutation_p.I434N|RP11-711G10.1_ENST00000514105.2_RNA	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	614					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TTCTTCTGCATCTTCATTGTG	0.493																																						uc003jdz.1		NA																	0				ovary(5)|pancreas(1)|skin(1)	7						c.(1840-1842)ATC>AAC		adenylate cyclase 2							208.0	184.0	192.0					5																	7727344		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7727344T>A	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1841T>A	5.37:g.7727344T>A	ENSP00000342952:p.Ile614Asn					ADCY2_uc011cmo.1_Missense_Mutation_p.I434N	p.I614N	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			14	1908	+			614			Helical; (Potential).		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.1841T>A	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	T	15.11	2.737102	0.49045	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	T;D	0.84070	-1.32;-1.8	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.77552	0.4147	L	0.45698	1.435	0.53688	D	0.999971	B;B	0.31485	0.052;0.325	B;B	0.31686	0.047;0.134	T	0.75855	-0.3170	10	0.38643	T	0.18	.	12.314	0.54944	0.0:0.0:0.0:1.0	.	434;614	B7Z2C1;Q08462	.;ADCY2_HUMAN	N	614;447;434	ENSP00000342952:I614N;ENSP00000444803:I434N	ENSP00000342952:I614N	I	+	2	0	ADCY2	7780344	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	7.181000	0.77682	1.890000	0.54733	0.528000	0.53228	ATC		0.493	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		67	80	0	0	0	0	67	80				
CCT5	22948	broad.mit.edu	37	5	10262656	10262656	+	Missense_Mutation	SNP	G	G	A	rs11557654		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:10262656G>A	ENST00000280326.4	+	9	1663	c.1243G>A	c.(1243-1245)Gat>Aat	p.D415N	CCT5_ENST00000515676.1_Missense_Mutation_p.D377N|CCT5_ENST00000515390.1_Missense_Mutation_p.D360N|CCT5_ENST00000503026.1_Missense_Mutation_p.D394N|CCT5_ENST00000506600.1_Missense_Mutation_p.D322N|CTD-2256P15.4_ENST00000606194.1_RNA	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	415					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|response to virus (GO:0009615)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleolus (GO:0005730)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|G-protein beta-subunit binding (GO:0031681)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						CCTCATCCGCGATAATCGTGT	0.493																																						uc003jeq.2		NA																	0				ovary(2)	2						c.(1243-1245)GAT>AAT		chaperonin containing TCP1, subunit 5 (epsilon)		G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	174.0	141.0	152.0		1243	5.1	0.6	5	dbSNP_120	152	0,8600		0,0,4300	no	missense	CCT5	NM_012073.3	23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	415/542	10262656	1,13005	2203	4300	6503	SO:0001583	missense	22948				'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding	g.chr5:10262656G>A	D43950	CCDS3877.1	5p15.2	2014-09-17			ENSG00000150753	ENSG00000150753		"""Heat Shock Proteins / Chaperonins"""	1618	protein-coding gene	gene with protein product		610150					Standard	NM_012073		Approved	KIAA0098	uc003jeq.3	P48643	OTTHUMG00000131042	ENST00000280326.4:c.1243G>A	5.37:g.10262656G>A	ENSP00000280326:p.Asp415Asn					CCT5_uc003jer.2_Missense_Mutation_p.D415N|CCT5_uc010its.2_Missense_Mutation_p.D415N|CCT5_uc011cmr.1_Missense_Mutation_p.D360N|CCT5_uc011cms.1_Missense_Mutation_p.D377N|CCT5_uc011cmt.1_Missense_Mutation_p.D322N	p.D415N	NM_012073	NP_036205	P48643	TCPE_HUMAN			9	1414	+			415					A8JZY8|A8K2X8|B4DYD8	Missense_Mutation	SNP	ENST00000280326.4	37	c.1243G>A	CCDS3877.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.448150	0.84101	2.27E-4	0.0	ENSG00000150753	ENST00000280326;ENST00000503026;ENST00000515390;ENST00000440011;ENST00000515676;ENST00000506600	D;D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42;-2.42	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	D	0.88411	0.6429	M	0.64080	1.96	0.80722	D	1	B;P;B;B;B	0.35411	0.287;0.5;0.311;0.311;0.311	B;B;B;B;B	0.36134	0.182;0.163;0.218;0.218;0.218	D	0.88634	0.3171	10	0.52906	T	0.07	-34.6161	17.9213	0.88966	0.0:0.0:1.0:0.0	.	322;360;413;415;415	B4DYD8;E7ENZ3;Q9BU08;A8K2X8;P48643	.;.;.;.;TCPE_HUMAN	N	415;394;360;388;377;322	ENSP00000280326:D415N;ENSP00000423318:D394N;ENSP00000426923:D360N;ENSP00000427297:D377N;ENSP00000423052:D322N	ENSP00000280326:D415N	D	+	1	0	CCT5	10315656	1.000000	0.71417	0.641000	0.29422	0.992000	0.81027	9.325000	0.96381	2.528000	0.85240	0.558000	0.71614	GAT		0.493	CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253688.2			30	135	0	0	0	0	30	135				
DNAH5	1767	broad.mit.edu	37	5	13721328	13721328	+	Missense_Mutation	SNP	C	C	A	rs571482865		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:13721328C>A	ENST00000265104.4	-	71	12164	c.12060G>T	c.(12058-12060)atG>atT	p.M4020I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4020	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATTTTTCTCCCATGGAGTCCA	0.453									Kartagener syndrome																													uc003jfd.2		NA																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(12058-12060)ATG>ATT		dynein, axonemal, heavy chain 5							79.0	80.0	80.0					5																	13721328		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13721328C>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.12060G>T	5.37:g.13721328C>A	ENSP00000265104:p.Met4020Ile					DNAH5_uc003jfc.2_Missense_Mutation_p.M188I	p.M4020I	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			71	12102	-	Lung NSC(4;0.00476)		4020			AAA 6 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.12060G>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.383675	0.61845	.	.	ENSG00000039139	ENST00000265104	T	0.08102	3.13	5.31	5.31	0.75309	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.11580	0.0282	L	0.46947	1.48	0.80722	D	1	B	0.24576	0.106	B	0.24006	0.05	T	0.06625	-1.0816	10	0.41790	T	0.15	.	19.3307	0.94285	0.0:1.0:0.0:0.0	.	4020	Q8TE73	DYH5_HUMAN	I	4020	ENSP00000265104:M4020I	ENSP00000265104:M4020I	M	-	3	0	DNAH5	13774328	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	4.845000	0.62853	2.636000	0.89361	0.650000	0.86243	ATG		0.453	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		71	81	1	0	2.3e-22	3.26e-22	71	81				
DNAH5	1767	broad.mit.edu	37	5	13792157	13792157	+	Silent	SNP	A	A	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:13792157A>G	ENST00000265104.4	-	50	8498	c.8394T>C	c.(8392-8394)tcT>tcC	p.S2798S		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2798	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCCAGACCCGAGAAAGATCTC	0.413									Kartagener syndrome																													uc003jfd.2		NA																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(8392-8394)TCT>TCC		dynein, axonemal, heavy chain 5							84.0	81.0	82.0					5																	13792157		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13792157A>G	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.8394T>C	5.37:g.13792157A>G							p.S2798S	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			50	8436	-	Lung NSC(4;0.00476)		2798			AAA 3 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.8394T>C	CCDS3882.1																																																																																				0.413	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		13	80	0	0	0	0	13	80				
CDH12	1010	broad.mit.edu	37	5	21755861	21755861	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:21755861C>G	ENST00000382254.1	-	14	2810	c.1724G>C	c.(1723-1725)aGc>aCc	p.S575T	CDH12_ENST00000522262.1_Missense_Mutation_p.S535T|CDH12_ENST00000504376.2_Missense_Mutation_p.S575T|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	575	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GACAGGGTAGCTGCTGTCTTC	0.453										HNSCC(59;0.17)																												uc010iuc.2		NA																	0				ovary(2)	2						c.(1723-1725)AGC>ACC		cadherin 12, type 2 preproprotein							187.0	154.0	165.0					5																	21755861		2203	4300	6503	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21755861C>G	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.1724G>C	5.37:g.21755861C>G	ENSP00000371689:p.Ser575Thr	HNSCC(59;0.17)				CDH12_uc011cno.1_Missense_Mutation_p.S535T|CDH12_uc003jgk.2_Missense_Mutation_p.S575T|uc003jgj.2_Intron	p.S575T	NM_004061	NP_004052	P55289	CAD12_HUMAN			11	2182	-			575			Extracellular (Potential).|Cadherin 5.		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.1724G>C	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.920352	0.73098	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.59502	0.26;0.26;0.26	5.47	5.47	0.80525	Cadherin (4);Cadherin-like (1);	0.041845	0.85682	D	0.000000	T	0.58075	0.2097	L	0.36672	1.1	0.51767	D	0.99993	B;P	0.36753	0.013;0.568	B;B	0.42738	0.038;0.396	T	0.61874	-0.6973	10	0.87932	D	0	.	19.3164	0.94215	0.0:1.0:0.0:0.0	.	535;575	B7Z2U6;P55289	.;CAD12_HUMAN	T	575;575;535	ENSP00000423577:S575T;ENSP00000371689:S575T;ENSP00000428786:S535T	ENSP00000371689:S575T	S	-	2	0	CDH12	21791618	0.999000	0.42202	1.000000	0.80357	0.921000	0.55340	3.112000	0.50368	2.572000	0.86782	0.460000	0.39030	AGC		0.453	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		31	139	0	0	0	0	31	139				
PRDM9	56979	broad.mit.edu	37	5	23522816	23522816	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:23522816C>G	ENST00000296682.3	+	8	886	c.704C>G	c.(703-705)cCc>cGc	p.P235R		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	235					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						AAGGGGCACCCCAACCGTTCA	0.562										HNSCC(3;0.000094)																												uc003jgo.2		NA																	0				ovary(3)|large_intestine(2)|pancreas(1)	6						c.(703-705)CCC>CGC		PR domain containing 9							54.0	51.0	52.0					5																	23522816		2203	4300	6503	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.chr5:23522816C>G	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	ENST00000296682.3:c.704C>G	5.37:g.23522816C>G	ENSP00000296682:p.Pro235Arg	HNSCC(3;0.000094)					p.P235R	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			8	886	+			235					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.704C>G	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.376429	0.42105	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.54071	0.59	4.28	3.38	0.38709	.	1.326470	0.05714	N	0.596531	T	0.68339	0.2990	M	0.73598	2.24	0.09310	N	1	D	0.58620	0.983	P	0.56474	0.799	T	0.49862	-0.8894	10	0.87932	D	0	-2.0976	9.6166	0.39696	0.2096:0.7904:0.0:0.0	.	235	Q9NQV7	PRDM9_HUMAN	R	235;29	ENSP00000296682:P235R	ENSP00000253473:P29R	P	+	2	0	PRDM9	23558573	0.000000	0.05858	0.002000	0.10522	0.672000	0.39443	0.808000	0.27154	0.868000	0.35678	0.597000	0.82753	CCC		0.562	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		30	55	0	0	0	0	30	55				
PRDM9	56979	broad.mit.edu	37	5	23527713	23527713	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:23527713G>A	ENST00000296682.3	+	11	2698	c.2516G>A	c.(2515-2517)cGg>cAg	p.R839Q		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	839					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						GAGTGTGGGCGGGGCTTTCGC	0.592										HNSCC(3;0.000094)																												uc003jgo.2		NA																	0				ovary(3)|large_intestine(2)|pancreas(1)	6						c.(2515-2517)CGG>CAG		PR domain containing 9							58.0	68.0	65.0					5																	23527713		2180	4295	6475	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.chr5:23527713G>A	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	ENST00000296682.3:c.2516G>A	5.37:g.23527713G>A	ENSP00000296682:p.Arg839Gln	HNSCC(3;0.000094)					p.R839Q	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			11	2698	+			839			C2H2-type 13.		B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.2516G>A	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	2.974	-0.211737	0.06140	.	.	ENSG00000164256	ENST00000296682	T	0.07567	3.18	2.88	-0.0426	0.13862	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05731	0.0150	L	0.33668	1.02	0.09310	N	1	P	0.43287	0.802	B	0.36030	0.216	T	0.32955	-0.9887	9	0.62326	D	0.03	0.08	6.1362	0.20235	0.5164:0.0:0.4836:0.0	.	839	Q9NQV7	PRDM9_HUMAN	Q	839	ENSP00000296682:R839Q	ENSP00000296682:R839Q	R	+	2	0	PRDM9	23563470	0.002000	0.14202	0.262000	0.24481	0.007000	0.05969	1.623000	0.37008	-0.009000	0.14296	-0.385000	0.06624	CGG		0.592	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		70	188	0	0	0	0	70	188				
PRLR	5618	broad.mit.edu	37	5	35065550	35065550	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:35065550C>A	ENST00000382002.5	-	10	1936	c.1510G>T	c.(1510-1512)Gct>Tct	p.A504S	PRLR_ENST00000513753.1_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.A403S|PRLR_ENST00000342362.5_Missense_Mutation_p.A403S|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000509934.1_5'Flank	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	504					activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	AAGGGTTTAGCGGAGCCAAAG	0.522																																						uc003jjm.2		NA																	0				ovary(2)|skin(1)	3						c.(1510-1512)GCT>TCT		prolactin receptor precursor	Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						87.0	94.0	92.0					5																	35065550		2203	4300	6503	SO:0001583	missense	5618				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	g.chr5:35065550C>A		CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.1510G>T	5.37:g.35065550C>A	ENSP00000371432:p.Ala504Ser					PRLR_uc003jjg.1_Intron|PRLR_uc003jjh.1_Intron|PRLR_uc003jji.1_Intron|PRLR_uc003jjj.1_Intron|PRLR_uc003jjk.1_Intron|PRLR_uc003jjl.3_Missense_Mutation_p.A403S	p.A504S	NM_000949	NP_000940	P16471	PRLR_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		10	2040	-	all_lung(31;3.83e-05)		504			Cytoplasmic (Potential).		B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Missense_Mutation	SNP	ENST00000382002.5	37	c.1510G>T	CCDS3909.1	.	.	.	.	.	.	.	.	.	.	C	0.806	-0.753848	0.03041	.	.	ENSG00000113494	ENST00000342362;ENST00000382002;ENST00000511486	D;T;D	0.88586	-2.4;-1.48;-2.4	5.8	-0.796	0.10912	.	0.707145	0.14823	N	0.296344	T	0.80747	0.4682	L	0.38175	1.15	0.09310	N	1	B;B	0.33919	0.008;0.432	B;B	0.34536	0.039;0.185	T	0.66312	-0.5955	10	0.19147	T	0.46	0.3739	10.3096	0.43702	0.0:0.5969:0.2342:0.1689	.	504;403	P16471;P16471-2	PRLR_HUMAN;.	S	403;504;403	ENSP00000339213:A403S;ENSP00000371432:A504S;ENSP00000422556:A403S	ENSP00000339213:A403S	A	-	1	0	PRLR	35101307	0.004000	0.15560	0.000000	0.03702	0.003000	0.03518	0.029000	0.13666	-0.079000	0.12707	-1.105000	0.02106	GCT		0.522	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207575.2			72	160	1	0	4.15e-37	6.2e-37	72	160				
LIFR	3977	broad.mit.edu	37	5	38486048	38486048	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:38486048G>A	ENST00000263409.4	-	17	2532	c.2370C>T	c.(2368-2370)gaC>gaT	p.D790D	LIFR_ENST00000453190.2_Silent_p.D790D	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	790	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TCTGGGATATGTCAGTAATAT	0.408			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)	uc010ive.1		NA		Dom	yes		5	5p13-p12	3977	T	leukemia inhibitory factor receptor			E	PLAG1		salivary adenoma		0				ovary(3)|large_intestine(1)	4						c.(2368-2370)GAC>GAT		leukemia inhibitory factor receptor precursor							101.0	94.0	97.0					5																	38486048		2203	4300	6503	SO:0001819	synonymous_variant	3977				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	g.chr5:38486048G>A	X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.2370C>T	5.37:g.38486048G>A						LIFR_uc003jli.2_Silent_p.D790D	p.D790D	NM_001127671	NP_001121143	P42702	LIFR_HUMAN			17	2702	-	all_lung(31;0.00021)		790			Fibronectin type-III 6.|Extracellular (Potential).		Q6LCD9	Silent	SNP	ENST00000263409.4	37	c.2370C>T	CCDS3927.1																																																																																				0.408	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310		14	74	0	0	0	0	14	74				
FYB	2533	broad.mit.edu	37	5	39135036	39135036	+	Silent	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:39135036C>T	ENST00000351578.6	-	8	1786	c.1596G>A	c.(1594-1596)aaG>aaA	p.K532K	FYB_ENST00000512982.1_Silent_p.K532K|FYB_ENST00000540520.1_Silent_p.K542K|FYB_ENST00000515010.1_Silent_p.K532K|FYB_ENST00000505428.1_Silent_p.K532K	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	532	SH3.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			GCTCTCCTTGCTTGAAGCTCA	0.423																																						uc003jls.2		NA																	0				ovary(2)	2						c.(1594-1596)AAG>AAA		FYN binding protein (FYB-120/130) isoform 2							209.0	190.0	196.0					5																	39135036		1878	4129	6007	SO:0001819	synonymous_variant	2533				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	g.chr5:39135036C>T	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.1596G>A	5.37:g.39135036C>T						FYB_uc003jlt.2_Silent_p.K532K|FYB_uc003jlu.2_Silent_p.K532K|FYB_uc011cpl.1_Silent_p.K542K	p.K532K	NM_199335	NP_955367	O15117	FYB_HUMAN	Epithelial(62;0.235)		7	1663	-	all_lung(31;0.000343)		532			SH3.		A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Silent	SNP	ENST00000351578.6	37	c.1596G>A	CCDS47200.1																																																																																				0.423	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465		60	85	0	0	0	0	60	85				
C7	730	broad.mit.edu	37	5	40931225	40931225	+	Missense_Mutation	SNP	G	G	A	rs184410935		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:40931225G>A	ENST00000313164.9	+	3	481	c.122G>A	c.(121-123)gGc>gAc	p.G41D		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	41	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)							Ovarian(839;0.0112)				GAATGCAATGGCTGTACCAAG	0.423																																						uc003jmh.2		NA																	0					0						c.(121-123)GGC>GAC		complement component 7 precursor							102.0	96.0	98.0					5																	40931225		1883	4123	6006	SO:0001583	missense	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40931225G>A	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.122G>A	5.37:g.40931225G>A	ENSP00000322061:p.Gly41Asp					C7_uc011cpn.1_RNA	p.G41D	NM_000587	NP_000578	P10643	CO7_HUMAN			3	236	+		Ovarian(839;0.0112)	41			TSP type-1 1.		Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	37	c.122G>A	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.646722	0.87958	.	.	ENSG00000112936	ENST00000313164;ENST00000440677;ENST00000515157	T	0.52983	0.64	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.72293	0.3442	M	0.83384	2.64	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74346	-0.3695	10	0.51188	T	0.08	-20.9735	18.2333	0.89941	0.0:0.0:1.0:0.0	.	41	P10643	CO7_HUMAN	D	41	ENSP00000322061:G41D	ENSP00000322061:G41D	G	+	2	0	C7	40966982	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	5.518000	0.67068	2.598000	0.87819	0.650000	0.86243	GGC		0.423	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			25	54	0	0	0	0	25	54				
MSH3	4437	broad.mit.edu	37	5	80168934	80168934	+	Splice_Site	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:80168934G>T	ENST00000265081.6	+	23	3210		c.e23-1			NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3						ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		TTATTTCACAGGCGCAGCAGA	0.363								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)	uc003kgz.2		NA																	0				lung(2)|ovary(1)|breast(1)	4						c.e23-1	MMR	mutS homolog 3							141.0	136.0	138.0					5																	80168934		2203	4300	6503	SO:0001630	splice_region_variant	4437				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding	g.chr5:80168934G>T	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.3131-1G>T	5.37:g.80168934G>T							p.G1044_splice	NM_002439	NP_002430	P20585	MSH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)	23	3384	+		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)						A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Splice_Site	SNP	ENST00000265081.6	37	c.3131_splice	CCDS34195.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.036694	0.75617	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MSH3	80204690	1.000000	0.71417	0.395000	0.26283	0.326000	0.28443	7.507000	0.81676	2.937000	0.99478	0.650000	0.86243	.		0.363	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439	Intron	38	120	1	0	4.18e-13	5.5e-13	38	120				
MEF2C	4208	broad.mit.edu	37	5	88027668	88027668	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:88027668C>T	ENST00000437473.2	-	7	1105	c.688G>A	c.(688-690)Ggt>Agt	p.G230S	MEF2C_ENST00000514028.1_Missense_Mutation_p.G230S|MEF2C_ENST00000503554.1_5'Flank|MEF2C_ENST00000506554.1_Missense_Mutation_p.G230S|MEF2C_ENST00000508569.1_Missense_Mutation_p.G230S|MEF2C_ENST00000510942.1_Missense_Mutation_p.G230S|MEF2C_ENST00000504921.2_Missense_Mutation_p.G230S|MEF2C_ENST00000539796.1_Missense_Mutation_p.G182S|MEF2C_ENST00000424173.2_Missense_Mutation_p.G228S|MEF2C_ENST00000340208.5_Missense_Mutation_p.G248S|MEF2C_ENST00000514015.1_Missense_Mutation_p.G230S	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	230					apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TTCAAGTTACCAGGTGAGACC	0.423										HNSCC(66;0.2)																												uc003kjj.2		NA																	0				lung(3)|breast(2)|ovary(1)|large_intestine(1)	7						c.(688-690)GGT>AGT		myocyte enhancer factor 2C isoform 1							90.0	87.0	88.0					5																	88027668		1862	4090	5952	SO:0001583	missense	4208				apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr5:88027668C>T	AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"""Myocyte enhancer factors"""	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.688G>A	5.37:g.88027668C>T	ENSP00000396219:p.Gly230Ser	HNSCC(66;0.2)				MEF2C_uc003kji.2_Missense_Mutation_p.G230S|MEF2C_uc003kjk.2_Missense_Mutation_p.G230S|MEF2C_uc003kjm.2_Missense_Mutation_p.G228S|MEF2C_uc003kjl.2_Missense_Mutation_p.G248S	p.G230S	NM_002397	NP_002388	Q06413	MEF2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)	7	1361	-		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)	230					C9JMZ0|D7F7N5|F8W7V7	Missense_Mutation	SNP	ENST00000437473.2	37	c.688G>A	CCDS47245.1	.	.	.	.	.	.	.	.	.	.	C	36	5.627401	0.96671	.	.	ENSG00000081189	ENST00000340208;ENST00000424173;ENST00000504921;ENST00000514028;ENST00000437473;ENST00000510942;ENST00000506554;ENST00000508569;ENST00000514015;ENST00000539796;ENST00000513252	T;T;T;T;T;T;T;T;T;T;D	0.89746	-0.08;-0.05;-0.04;0.01;0.01;-0.08;-0.35;-0.36;-0.33;0.41;-2.56	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.93861	0.8036	L	0.59436	1.845	0.80722	D	1	P;D;D;D	0.89917	0.589;1.0;1.0;1.0	B;D;D;D	0.97110	0.222;0.991;0.997;1.0	D	0.92813	0.6266	10	0.54805	T	0.06	-4.9632	20.8794	0.99867	0.0:1.0:0.0:0.0	.	228;248;230;230	C9JMZ0;F8W7V7;Q06413;Q06413-2	.;.;MEF2C_HUMAN;.	S	248;228;230;230;230;230;230;230;230;182;228	ENSP00000340874:G248S;ENSP00000389610:G228S;ENSP00000421925:G230S;ENSP00000426665:G230S;ENSP00000396219:G230S;ENSP00000422390:G230S;ENSP00000425636:G230S;ENSP00000423597:G230S;ENSP00000424606:G230S;ENSP00000441153:G182S;ENSP00000423826:G228S	ENSP00000340874:G248S	G	-	1	0	MEF2C	88063424	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	GGT		0.423	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369817.1	NM_002397		10	36	0	0	0	0	10	36				
GPR98	84059	broad.mit.edu	37	5	90073745	90073745	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:90073745T>C	ENST00000405460.2	+	62	12647	c.12551T>C	c.(12550-12552)tTg>tCg	p.L4184S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4184	Calx-beta 28. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CCAGGGATTTTGGGGGAGGTC	0.423																																						uc003kju.2		NA																	0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(12550-12552)TTG>TCG		G protein-coupled receptor 98 precursor							73.0	71.0	72.0					5																	90073745		1867	4101	5968	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90073745T>C	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.12551T>C	5.37:g.90073745T>C	ENSP00000384582:p.Leu4184Ser					GPR98_uc003kjt.2_Missense_Mutation_p.L1890S	p.L4184S	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	62	12647	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	4184			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.12551T>C	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	T	3.076	-0.189986	0.06299	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.27720	1.65	5.23	-10.5	0.00291	.	0.435707	0.28618	N	0.014709	T	0.08714	0.0216	N	0.03115	-0.41	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.10291	-1.0636	10	0.31617	T	0.26	.	9.7465	0.40451	0.0:0.2177:0.5661:0.2162	.	4184	Q8WXG9	GPR98_HUMAN	S	4184	ENSP00000384582:L4184S	ENSP00000296619:L4184S	L	+	2	0	GPR98	90109501	0.927000	0.31430	0.000000	0.03702	0.108000	0.19459	-0.006000	0.12833	-2.204000	0.00743	0.363000	0.22086	TTG		0.423	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		13	43	0	0	0	0	13	43				
MCTP1	79772	broad.mit.edu	37	5	94619883	94619883	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:94619883C>A	ENST00000515393.1	-	1	396	c.397G>T	c.(397-399)Gta>Tta	p.V133L		NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	133					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		GGCCCCTTTACGGCGGGGAGC	0.746																																						uc003kkx.2		NA																	0				ovary(2)	2						c.(397-399)GTA>TTA		multiple C2 domains, transmembrane 1 isoform L							9.0	15.0	13.0					5																	94619883		2079	3991	6070	SO:0001583	missense	79772				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr5:94619883C>A		CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.397G>T	5.37:g.94619883C>A	ENSP00000424126:p.Val133Leu						p.V133L	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN		all cancers(79;9.1e-17)	1	397	-		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)	133					Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Missense_Mutation	SNP	ENST00000515393.1	37	c.397G>T	CCDS34203.1	.	.	.	.	.	.	.	.	.	.	C	3.464	-0.109425	0.06924	.	.	ENSG00000175471	ENST00000515393	T	0.78003	-1.14	4.27	4.27	0.50696	.	.	.	.	.	T	0.55784	0.1942	N	0.08118	0	0.50813	D	0.999891	B	0.06786	0.001	B	0.10450	0.005	T	0.51419	-0.8708	9	0.18276	T	0.48	1.8157	9.4757	0.38869	0.0:0.9014:0.0:0.0986	.	133	Q6DN14	MCTP1_HUMAN	L	133	ENSP00000424126:V133L	ENSP00000424126:V133L	V	-	1	0	MCTP1	94645639	0.070000	0.21116	0.003000	0.11579	0.001000	0.01503	3.893000	0.56243	2.221000	0.72209	0.644000	0.83932	GTA		0.746	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717		4	5	1	0	1.24e-05	1.42e-05	4	5				
SLCO4C1	353189	broad.mit.edu	37	5	101597728	101597728	+	Silent	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:101597728G>T	ENST00000310954.6	-	5	1195	c.909C>A	c.(907-909)gtC>gtA	p.V303V		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		CATCCTCAGTGACATCAGTGC	0.358																																						uc003knm.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	4						c.(907-909)GTC>GTA		solute carrier organic anion transporter family,							78.0	77.0	77.0					5																	101597728		2203	4300	6503	SO:0001819	synonymous_variant	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101597728G>T	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.909C>A	5.37:g.101597728G>T							p.V303V	NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	5	1196	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)	303			Extracellular (Potential).			Silent	SNP	ENST00000310954.6	37	c.909C>A	CCDS34205.1																																																																																				0.358	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		13	52	1	0	1.58e-08	1.94e-08	13	52				
PPIP5K2	23262	broad.mit.edu	37	5	102491630	102491630	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:102491630G>A	ENST00000358359.3	+	14	1930	c.1421G>A	c.(1420-1422)gGa>gAa	p.G474E	PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000321521.9_Missense_Mutation_p.G474E|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.G474E	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	474					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CATTTTTCTGGAATAAATCGT	0.333																																						uc003kod.3		NA																	0				ovary(1)|skin(1)	2						c.(1420-1422)GGA>GAA		Histidine acid phosphatase domain containing 1							194.0	191.0	192.0					5																	102491630		2203	4300	6503	SO:0001583	missense	23262				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr5:102491630G>A	AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"""histidine acid phosphatase domain containing 1"""	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.1421G>A	5.37:g.102491630G>A	ENSP00000351126:p.Gly474Glu					PPIP5K2_uc011cva.1_RNA|PPIP5K2_uc003koe.2_Missense_Mutation_p.G474E|PPIP5K2_uc010jbo.1_Missense_Mutation_p.G396E	p.G474E	NM_015216	NP_056031	O43314	VIP2_HUMAN			14	1940	+			474					A1NI53|A6NGS8|Q8TB50	Missense_Mutation	SNP	ENST00000358359.3	37	c.1421G>A		.	.	.	.	.	.	.	.	.	.	G	16.71	3.199110	0.58126	.	.	ENSG00000145725	ENST00000321521;ENST00000507921;ENST00000358359;ENST00000451606;ENST00000414217	T;T;T;T	0.36340	1.26;1.26;1.26;1.26	5.33	4.45	0.53987	.	0.075993	0.56097	D	0.000039	T	0.69602	0.3129	M	0.93808	3.46	0.80722	D	1	D;P;D	0.89917	1.0;0.909;1.0	D;P;D	0.97110	1.0;0.771;1.0	T	0.79876	-0.1618	10	0.87932	D	0	.	15.7138	0.77652	0.0:0.0:0.862:0.138	.	396;474;474	D6RBU4;O43314-2;O43314	.;.;VIP2_HUMAN	E	474;396;474;474;474	ENSP00000313070:G474E;ENSP00000422525:G396E;ENSP00000351126:G474E;ENSP00000416016:G474E	ENSP00000313070:G474E	G	+	2	0	PPIP5K2	102519529	1.000000	0.71417	1.000000	0.80357	0.315000	0.28087	9.371000	0.97162	1.374000	0.46228	-0.188000	0.12872	GGA		0.333	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	NM_015216		18	34	0	0	0	0	18	34				
STARD4	134429	broad.mit.edu	37	5	110835766	110835766	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:110835766C>T	ENST00000296632.3	-	6	570	c.436G>A	c.(436-438)Gtt>Att	p.V146I	STARD4_ENST00000511569.1_5'Flank|STARD4_ENST00000512160.1_3'UTR	NM_139164.1	NP_631903.1	Q96DR4	STAR4_HUMAN	StAR-related lipid transfer (START) domain containing 4	146	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				lipid transport (GO:0006869)		lipid binding (GO:0008289)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		TATCCTCGAACAAATTCTGGT	0.363																																						uc003kph.1		NA																	0				ovary(1)	1						c.(436-438)GTT>ATT		StAR-related lipid transfer (START) domain							72.0	70.0	71.0					5																	110835766		2202	4300	6502	SO:0001583	missense	134429				lipid transport		lipid binding	g.chr5:110835766C>T	AF480299	CCDS4104.1	5q22	2011-09-12	2007-08-16		ENSG00000164211	ENSG00000164211		"""StAR-related lipid transfer (START) domain containing"""	18058	protein-coding gene	gene with protein product		607049	"""START domain containing 4, sterol regulated"""			12011452	Standard	NM_139164		Approved		uc003kph.1	Q96DR4	OTTHUMG00000128793	ENST00000296632.3:c.436G>A	5.37:g.110835766C>T	ENSP00000296632:p.Val146Ile					STARD4_uc010jbw.1_Missense_Mutation_p.V48I|STARD4_uc010jbx.1_Missense_Mutation_p.V48I|STARD4_uc003kpi.1_RNA	p.V146I	NM_139164	NP_631903	Q96DR4	STAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)	6	520	-		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)	146			START.		Q86TN9	Missense_Mutation	SNP	ENST00000296632.3	37	c.436G>A	CCDS4104.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.686946	0.48097	.	.	ENSG00000164211	ENST00000296632;ENST00000505803	T;T	0.80994	-1.44;-1.44	5.69	3.85	0.44370	Lipid-binding START (2);START-like domain (1);	0.158175	0.43579	N	0.000556	T	0.71273	0.3320	L	0.39898	1.24	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.66122	-0.6002	10	0.33141	T	0.24	-0.6396	11.1134	0.48246	0.0:0.8468:0.0:0.1532	.	146	Q96DR4	STAR4_HUMAN	I	146	ENSP00000296632:V146I;ENSP00000427478:V146I	ENSP00000296632:V146I	V	-	1	0	STARD4	110863665	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.491000	0.53252	1.350000	0.45770	0.655000	0.94253	GTT		0.363	STARD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250720.1	NM_139164		23	72	0	0	0	0	23	72				
LVRN	206338	broad.mit.edu	37	5	115298688	115298688	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:115298688T>C	ENST00000357872.4	+	1	498	c.374T>C	c.(373-375)tTg>tCg	p.L125S	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		125						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										GCCGGGTCTTTGCCCTTCACT	0.687																																						uc003kro.2		NA																	0					0						c.(373-375)TTG>TCG		laeverin							50.0	55.0	53.0					5																	115298688		2202	4299	6501	SO:0001583	missense	206338				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	g.chr5:115298688T>C																												ENST00000357872.4:c.374T>C	5.37:g.115298688T>C	ENSP00000350541:p.Leu125Ser					AQPEP_uc003krp.2_RNA|uc003krn.1_5'UTR	p.L125S	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN			1	538	+			125			Lumenal (Potential).		A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation	SNP	ENST00000357872.4	37	c.374T>C	CCDS4124.1	.	.	.	.	.	.	.	.	.	.	T	7.366	0.625772	0.14257	.	.	ENSG00000172901	ENST00000357872;ENST00000379578	T	0.04360	3.64	4.47	1.95	0.26073	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	1.316140	0.05455	N	0.550237	T	0.06735	0.0172	L	0.55213	1.73	0.19300	N	0.999978	B	0.28470	0.213	B	0.31390	0.129	T	0.40270	-0.9572	10	0.45353	T	0.12	.	3.7311	0.08493	0.0:0.1161:0.2271:0.6569	.	125	Q6Q4G3	AMPQ_HUMAN	S	125	ENSP00000350541:L125S	ENSP00000350541:L125S	L	+	2	0	AC010282.1	115326587	0.001000	0.12720	0.008000	0.14137	0.001000	0.01503	0.865000	0.27940	1.791000	0.52520	0.528000	0.53228	TTG		0.687	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1			28	87	0	0	0	0	28	87				
SLC22A4	6583	broad.mit.edu	37	5	131630517	131630517	+	Silent	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:131630517C>A	ENST00000200652.3	+	1	382	c.208C>A	c.(208-210)Cgg>Agg	p.R70R	P4HA2_ENST00000471826.1_Intron	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	70					body fluid secretion (GO:0007589)|carnitine metabolic process (GO:0009437)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cation transmembrane transport (GO:0098655)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|cation:cation antiporter activity (GO:0015491)|nucleotide binding (GO:0000166)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)|symporter activity (GO:0015293)			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Amiloride(DB00594)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Desipramine(DB01151)|Guanidine(DB00536)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|L-Lysine(DB00123)|Levofloxacin(DB01137)|Mepyramine(DB06691)|Nicotine(DB00184)|Ofloxacin(DB01165)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Spermine(DB00127)|Testosterone(DB00624)|Tiotropium(DB01409)|Verapamil(DB00661)	TGTCCCGCTGCGGCTGCGGGA	0.721																																						uc003kwq.2		NA																	0					0						c.(208-210)CGG>AGG		solute carrier family 22 member 4	L-Carnitine(DB00583)						15.0	19.0	18.0					5																	131630517		2198	4282	6480	SO:0001819	synonymous_variant	6583				body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity	g.chr5:131630517C>A	AB007448	CCDS4153.1	5q23.3	2013-07-18	2013-07-18		ENSG00000197208	ENSG00000197208		"""Solute carriers"""	10968	protein-coding gene	gene with protein product		604190	"""solute carrier family 22 (organic cation/ergothioneine transporter), member 4"""			9426230, 15795384	Standard	NM_003059		Approved	OCTN1, MGC34546	uc003kwq.3	Q9H015	OTTHUMG00000059648	ENST00000200652.3:c.208C>A	5.37:g.131630517C>A						uc003kwm.3_Intron|SLC22A4_uc010jdq.1_5'Flank	p.R70R	NM_003059	NP_003050	Q9H015	S22A4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		1	373	+		all_cancers(142;0.0752)|Breast(839;0.198)	70			Extracellular (Potential).		O14546	Silent	SNP	ENST00000200652.3	37	c.208C>A	CCDS4153.1																																																																																				0.721	SLC22A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132661.1	NM_003059		6	23	1	0	2.01e-06	2.34e-06	6	23				
MYOT	9499	broad.mit.edu	37	5	137206561	137206561	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:137206561A>T	ENST00000239926.4	+	2	595	c.221A>T	c.(220-222)aAg>aTg	p.K74M	RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000421631.2_Intron|MYOT_ENST00000509812.1_Intron|MYOT_ENST00000515645.1_Intron	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	74			K -> Q (in dbSNP:rs41431944). {ECO:0000269|PubMed:10369880, ECO:0000269|PubMed:10486214, ECO:0000269|PubMed:15489334}.		muscle contraction (GO:0006936)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	structural constituent of muscle (GO:0008307)			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GCTTCTCCCAAGCAGCATGCT	0.532																																						uc011cye.1		NA																	0				large_intestine(1)	1						c.(220-222)AAG>ATG		myotilin isoform b							104.0	94.0	98.0					5																	137206561		2203	4300	6503	SO:0001583	missense	9499				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle	g.chr5:137206561A>T	AF133820	CCDS4194.1, CCDS47268.1, CCDS75309.1	5q31.2	2014-09-17	2005-09-07	2005-09-07	ENSG00000120729	ENSG00000120729		"""Immunoglobulin superfamily / I-set domain containing"""	12399	protein-coding gene	gene with protein product		604103	"""titin immunoglobulin domain protein (myotilin)"", ""limb-girdle muscular dystrophy 1A (autosomal dominant)"""	TTID, LGMD1A, LGMD1		10486214, 10369880	Standard	NM_006790		Approved		uc003lbv.3	Q9UBF9	OTTHUMG00000129154	ENST00000239926.4:c.221A>T	5.37:g.137206561A>T	ENSP00000239926:p.Lys74Met					MYOT_uc003lbv.2_Missense_Mutation_p.Q74L|MYOT_uc011cyg.1_Intron|MYOT_uc011cyh.1_Intron	p.K74M	NM_001135940	NP_001129412	Q9UBF9	MYOTI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		2	238	+			74					A0A4R6|B4DT79	Missense_Mutation	SNP	ENST00000239926.4	37	c.221A>T	CCDS4194.1	.	.	.	.	.	.	.	.	.	.	A	11.59	1.685209	0.29872	.	.	ENSG00000120729	ENST00000239926	T	0.68624	-0.34	5.76	5.76	0.90799	.	0.000000	0.56097	D	0.000022	T	0.50360	0.1611	N	0.14661	0.345	0.80722	D	1	B	0.12630	0.006	B	0.08055	0.003	T	0.44697	-0.9311	10	0.33940	T	0.23	.	14.6502	0.68792	1.0:0.0:0.0:0.0	.	74	Q9UBF9	MYOTI_HUMAN	M	74	ENSP00000239926:K74M	ENSP00000239926:K74M	K	+	2	0	MYOT	137234460	1.000000	0.71417	1.000000	0.80357	0.168000	0.22595	4.755000	0.62198	2.200000	0.70718	0.377000	0.23210	AAG		0.532	MYOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251219.2	NM_006790		32	80	0	0	0	0	32	80				
PCDHA2	56146	broad.mit.edu	37	5	140175845	140175845	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:140175845G>A	ENST00000526136.1	+	1	1296	c.1296G>A	c.(1294-1296)tcG>tcA	p.S432S	PCDHA2_ENST00000378132.1_Silent_p.S432S|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Silent_p.S432S|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	432	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(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGGGGCTCGCCTTCACTGT	0.627																																						uc003lhd.2		NA																	0				ovary(4)	4						c.(1294-1296)TCG>TCA		protocadherin alpha 2 isoform 1 precursor							80.0	78.0	79.0					5																	140175845		2203	4299	6502	SO:0001819	synonymous_variant	56146				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140175845G>A	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1296G>A	5.37:g.140175845G>A						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Silent_p.S432S|PCDHA2_uc011czy.1_Silent_p.S432S	p.S432S	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1402	+			432			Cadherin 4.|Extracellular (Potential).		O75287|Q9BTV3	Silent	SNP	ENST00000526136.1	37	c.1296G>A	CCDS54914.1																																																																																				0.627	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		28	78	0	0	0	0	28	78				
PCDHA3	56145	broad.mit.edu	37	5	140182638	140182638	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:140182638G>A	ENST00000522353.2	+	1	1856	c.1856G>A	c.(1855-1857)cGc>cAc	p.R619H	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.R619H	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	619	Cadherin 6. {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)	p.R619H(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGGTGCGCGCATCCCGTTT	0.672																																						uc003lhf.2		NA																	2	Substitution - Missense(2)		endometrium(2)	ovary(6)|skin(2)	8						c.(1855-1857)CGC>CAC		protocadherin alpha 3 isoform 1 precursor							76.0	75.0	75.0					5																	140182638		2203	4300	6503	SO:0001583	missense	56145				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140182638G>A	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1856G>A	5.37:g.140182638G>A	ENSP00000429808:p.Arg619His					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.R619H	p.R619H	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1856	+			619			Cadherin 6.|Extracellular (Potential).		O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.1856G>A	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	g	3.253	-0.152823	0.06585	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.52526	0.66;0.66	4.21	4.21	0.49690	Cadherin (4);Cadherin-like (1);	0.000000	0.33591	U	0.004758	T	0.39600	0.1084	L	0.43701	1.375	0.22305	N	0.999217	B;B	0.33266	0.1;0.404	B;B	0.33196	0.046;0.159	T	0.34004	-0.9846	10	0.38643	T	0.18	.	12.4038	0.55428	0.0:0.0:1.0:0.0	.	619;619	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	H	619	ENSP00000429808:R619H;ENSP00000434086:R619H	ENSP00000429808:R619H	R	+	2	0	PCDHA3	140162822	0.000000	0.05858	0.325000	0.25375	0.076000	0.17211	-0.179000	0.09768	2.060000	0.61445	0.467000	0.42956	CGC		0.672	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		4	70	0	0	0	0	4	70				
PCDHA5	56143	broad.mit.edu	37	5	140203530	140203530	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:140203530G>T	ENST00000529859.1	+	1	2170	c.2170G>T	c.(2170-2172)Gcg>Tcg	p.A724S	PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.A724S|PCDHA5_ENST00000378126.3_Missense_Mutation_p.A724S|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	724					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(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGTGCTCGGCGCAGCCCAC	0.657																																						uc003lhl.2		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(2170-2172)GCG>TCG		protocadherin alpha 5 isoform 1 precursor							54.0	51.0	52.0					5																	140203530		2203	4298	6501	SO:0001583	missense	56143				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140203530G>T	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.2170G>T	5.37:g.140203530G>T	ENSP00000436557:p.Ala724Ser					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_Missense_Mutation_p.A724S|PCDHA5_uc003lhj.1_Missense_Mutation_p.A724S	p.A724S	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2170	+			724			Cytoplasmic (Potential).		O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	c.2170G>T	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	G	6.933	0.541903	0.13250	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.15256	2.44;2.44;2.44	4.17	2.37	0.29283	.	.	.	.	.	T	0.19604	0.0471	M	0.74389	2.26	0.09310	N	1	B;B;B	0.20671	0.047;0.035;0.018	B;B;B	0.21360	0.015;0.034;0.021	T	0.21724	-1.0237	9	0.35671	T	0.21	.	6.8911	0.24230	0.2217:0.0:0.7783:0.0	.	724;724;724	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	S	724	ENSP00000433416:A724S;ENSP00000436557:A724S;ENSP00000367366:A724S	ENSP00000367366:A724S	A	+	1	0	PCDHA5	140183714	0.000000	0.05858	0.005000	0.12908	0.115000	0.19883	-0.154000	0.10130	0.352000	0.24053	0.491000	0.48974	GCG		0.657	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		24	52	1	0	4.78e-09	5.92e-09	24	52				
PCDHA7	56141	broad.mit.edu	37	5	140215375	140215375	+	Silent	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:140215375G>T	ENST00000525929.1	+	1	1407	c.1407G>T	c.(1405-1407)ccG>ccT	p.P469P	PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.P469P|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	469	Cadherin 5. {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)	p.P469P(1)		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)			AGAACAACCCGCCGGGCTGCC	0.682																																					NSCLC(160;258 2013 5070 22440 28951)	uc003lhq.2		NA																	1	Substitution - coding silent(1)	p.P469P(1)	ovary(1)	ovary(2)|skin(2)	4						c.(1405-1407)CCG>CCT		protocadherin alpha 7 isoform 1 precursor							42.0	48.0	46.0					5																	140215375		2202	4298	6500	SO:0001819	synonymous_variant	56141				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140215375G>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.1407G>T	5.37:g.140215375G>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.P469P	p.P469P	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1407	+			469			Cadherin 5.|Extracellular (Potential).		O75282	Silent	SNP	ENST00000525929.1	37	c.1407G>T	CCDS54918.1																																																																																				0.682	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		17	47	1	0	9.58e-11	1.22e-10	17	47				
PCDHA9	9752	broad.mit.edu	37	5	140389511	140389511	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:140389511A>T	ENST00000532602.1	+	4	3875	c.2842A>T	c.(2842-2844)Agt>Tgt	p.S948C	PCDHAC2_ENST00000289269.5_Missense_Mutation_p.S1005C|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Missense_Mutation_p.S935C|PCDHA6_ENST00000529310.1_Missense_Mutation_p.S948C|PCDHA10_ENST00000307360.5_Missense_Mutation_p.S946C|PCDHA2_ENST00000526136.1_Missense_Mutation_p.S946C|PCDHA13_ENST00000289272.2_Missense_Mutation_p.S948C|PCDHA1_ENST00000504120.2_Missense_Mutation_p.S948C|PCDHAC1_ENST00000253807.2_Missense_Mutation_p.S961C|PCDHA5_ENST00000529859.1_Missense_Mutation_p.S934C|PCDHA6_ENST00000527624.1_Missense_Mutation_p.S684C|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Missense_Mutation_p.S947C|PCDHA1_ENST00000394633.3_Missense_Mutation_p.S684C|PCDHA13_ENST00000409494.1_Intron|PCDHA4_ENST00000530339.1_Missense_Mutation_p.S945C|PCDHA8_ENST00000531613.1_Missense_Mutation_p.S948C|PCDHA10_ENST00000506939.2_Missense_Mutation_p.S683C|PCDHA12_ENST00000398631.2_Missense_Mutation_p.S939C|PCDHA3_ENST00000522353.2_Missense_Mutation_p.S948C	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	948					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACTGACAACAGTGACCAGTG	0.428																																					Melanoma(55;1800 1972 14909)	uc003lii.2		NA																	0				ovary(2)|skin(2)	4						c.(3013-3015)AGT>TGT		protocadherin alpha subfamily C, 2 isoform 1							105.0	115.0	111.0					5																	140389511		2203	4300	6503	SO:0001583	missense	56134				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140389511A>T	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.2842A>T	5.37:g.140389511A>T	ENSP00000436042:p.Ser948Cys					PCDHA1_uc003lha.2_Missense_Mutation_p.S684C|PCDHA1_uc003lhb.2_Missense_Mutation_p.S948C|PCDHA2_uc003lhd.2_Missense_Mutation_p.S946C|PCDHA3_uc003lhf.2_Missense_Mutation_p.S948C|PCDHA4_uc003lhi.2_Missense_Mutation_p.S945C|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Missense_Mutation_p.S934C|PCDHA6_uc003lhn.2_Missense_Mutation_p.S684C|PCDHA6_uc003lho.2_Missense_Mutation_p.S948C|PCDHA7_uc003lhq.2_Missense_Mutation_p.S935C|PCDHA8_uc003lhs.2_Missense_Mutation_p.S948C|PCDHA9_uc003lhu.2_Missense_Mutation_p.S948C|PCDHA10_uc003lhw.2_Missense_Mutation_p.S683C|PCDHA10_uc003lhx.2_Missense_Mutation_p.S946C|PCDHA11_uc003lia.2_Missense_Mutation_p.S947C|PCDHA12_uc003lic.2_Missense_Mutation_p.S939C|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Missense_Mutation_p.S948C|PCDHAC1_uc003lih.2_Missense_Mutation_p.S961C	p.S1005C	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	3253	+			1005			Cytoplasmic (Potential).		O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.3013A>T	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	A	16.43	3.121230	0.56613	.	.	ENSG00000204970;ENSG00000204970;ENSG00000204969;ENSG00000255408;ENSG00000204967;ENSG00000204965;ENSG00000081842;ENSG00000081842;ENSG00000204963;ENSG00000204962;ENSG00000204961;ENSG00000250120;ENSG00000250120;ENSG00000249158;ENSG00000251664;ENSG00000239389;ENSG00000248383;ENSG00000243232	ENST00000504120;ENST00000394633;ENST00000526136;ENST00000522353;ENST00000530339;ENST00000529859;ENST00000529310;ENST00000527624;ENST00000525929;ENST00000531613;ENST00000532602;ENST00000506939;ENST00000307360;ENST00000398640;ENST00000398631;ENST00000289272;ENST00000253807;ENST00000289269	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.59502	0.47;0.28;0.49;0.49;0.48;0.48;0.5;0.26;0.43;0.55;0.54;0.26;0.41;0.48;0.51;0.6;0.37;0.57	5.87	5.87	0.94306	.	0.000000	0.39274	N	0.001407	T	0.62841	0.2461	N	0.14661	0.345	0.46298	D	0.998974	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;B	0.89917	0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.993;1.0;1.0;1.0;1.0;1.0;0.209	P;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;B	0.91635	0.894;0.997;0.999;0.982;0.999;0.999;0.964;0.998;0.971;0.993;0.987;0.921;0.982;0.995;0.999;0.995;0.999;0.236	T	0.69510	-0.5126	10	0.87932	D	0	.	16.5764	0.84681	1.0:0.0:0.0:0.0	.	1005;961;948;939;947;946;683;948;948;935;948;684;934;945;948;946;948;684	Q9Y5I4;Q9H158;Q9Y5I0;Q9UN75;Q9Y5I1;Q9Y5I2;Q9Y5I2-2;Q9Y5H5;Q9Y5H6;Q9UN72;Q9UN73;Q9UN73-2;Q9Y5H7;Q9UN74;Q9Y5H8;Q9Y5H9;Q9Y5I3;Q9Y5I3-2	PCDC2_HUMAN;PCDC1_HUMAN;PCDAD_HUMAN;PCDAC_HUMAN;PCDAB_HUMAN;PCDAA_HUMAN;.;PCDA9_HUMAN;PCDA8_HUMAN;PCDA7_HUMAN;PCDA6_HUMAN;.;PCDA5_HUMAN;PCDA4_HUMAN;PCDA3_HUMAN;PCDA2_HUMAN;PCDA1_HUMAN;.	C	948;684;946;948;945;934;948;684;935;948;948;683;946;947;939;948;961;1005	ENSP00000420840:S948C;ENSP00000378129:S684C;ENSP00000431748:S946C;ENSP00000429808:S948C;ENSP00000435300:S945C;ENSP00000436557:S934C;ENSP00000433378:S948C;ENSP00000434113:S684C;ENSP00000436426:S935C;ENSP00000434655:S948C;ENSP00000436042:S948C;ENSP00000421030:S683C;ENSP00000304234:S946C;ENSP00000381636:S947C;ENSP00000381628:S939C;ENSP00000289272:S948C;ENSP00000253807:S961C;ENSP00000289269:S1005C	ENSP00000304234:S946C	S	+	1	0	PCDHA6;PCDHA7;PCDHA8;PCDHA9;PCDHA2;PCDHA3;PCDHA4;PCDHA5;PCDHA10;PCDHA11;PCDHA12;PCDHA1;PCDHA13;PCDHAC2;PCDHAC1	140369695	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.093000	0.71422	2.371000	0.80710	0.533000	0.62120	AGT		0.428	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		32	81	0	0	0	0	32	81				
PCDHB6	56130	broad.mit.edu	37	5	140531310	140531310	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:140531310C>A	ENST00000231136.1	+	1	1472	c.1472C>A	c.(1471-1473)cCc>cAc	p.P491H	PCDHB6_ENST00000543635.1_Missense_Mutation_p.P355H	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	491	Cadherin 5. {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)			CTGCTGCCGCCCCAGGACCCG	0.657																																						uc003lir.2		NA																	0				skin(1)	1						c.(1471-1473)CCC>CAC		protocadherin beta 6 precursor							82.0	89.0	87.0					5																	140531310		2203	4298	6501	SO:0001583	missense	56130				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140531310C>A	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.1472C>A	5.37:g.140531310C>A	ENSP00000231136:p.Pro491His					PCDHB6_uc011dah.1_Missense_Mutation_p.P355H	p.P491H	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1472	+			491			Cadherin 5.|Extracellular (Potential).		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.1472C>A	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	C	6.016	0.371390	0.11409	.	.	ENSG00000113211	ENST00000543635;ENST00000231136;ENST00000542861	T;T	0.50813	0.73;0.73	3.86	2.97	0.34412	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.50888	0.1642	L	0.31578	0.945	0.09310	N	1	D	0.69078	0.997	D	0.69479	0.964	T	0.31668	-0.9935	9	0.87932	D	0	.	5.8419	0.18639	0.0:0.6906:0.199:0.1103	.	491	Q9Y5E3	PCDB6_HUMAN	H	355;491;276	ENSP00000438466:P355H;ENSP00000231136:P491H	ENSP00000231136:P491H	P	+	2	0	PCDHB6	140511494	.	.	0.147000	0.22382	0.045000	0.14185	.	.	0.712000	0.32039	0.556000	0.70494	CCC		0.657	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		17	118	1	0	4.35e-09	5.42e-09	17	118				
PCDHB12	56124	broad.mit.edu	37	5	140589727	140589727	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:140589727G>A	ENST00000239450.2	+	1	1437	c.1248G>A	c.(1246-1248)gaG>gaA	p.E416E	PCDHB12_ENST00000541609.1_Silent_p.E79E	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	416	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(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGAGCCGAGTACAACATCA	0.522																																						uc003liz.2		NA																	0				skin(2)|ovary(1)	3						c.(1246-1248)GAG>GAA		protocadherin beta 12 precursor							96.0	94.0	95.0					5																	140589727		2203	4300	6503	SO:0001819	synonymous_variant	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140589727G>A	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1248G>A	5.37:g.140589727G>A						PCDHB12_uc011dak.1_Silent_p.E79E	p.E416E	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1437	+			416			Extracellular (Potential).|Cadherin 4.		B4DDU1	Silent	SNP	ENST00000239450.2	37	c.1248G>A	CCDS4254.1																																																																																				0.522	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		18	60	0	0	0	0	18	60				
PCDHGA1	56114	broad.mit.edu	37	5	140711622	140711622	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:140711622C>A	ENST00000517417.1	+	1	1371	c.1371C>A	c.(1369-1371)taC>taA	p.Y457*	AC005618.6_ENST00000606901.1_lincRNA|PCDHGA1_ENST00000378105.3_Nonsense_Mutation_p.Y457*	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	457	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGACTCCTACTCTGCCTACA	0.478																																						uc003lji.1		NA																	0				ovary(1)|breast(1)|pancreas(1)	3						c.(1369-1371)TAC>TAA		protocadherin gamma subfamily A, 1 isoform 1							128.0	132.0	131.0					5																	140711622		2203	4300	6503	SO:0001587	stop_gained	56114				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140711622C>A	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.1371C>A	5.37:g.140711622C>A	ENSP00000431083:p.Tyr457*					PCDHGA1_uc011dan.1_Nonsense_Mutation_p.Y457*	p.Y457*	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1371	+			457			Extracellular (Potential).|Cadherin 5.		Q2M273|Q9Y5D6	Nonsense_Mutation	SNP	ENST00000517417.1	37	c.1371C>A	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.799260	0.50208	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	.	.	.	3.89	-1.18	0.09617	.	0.000000	0.43747	D	0.000535	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.3722	0.16146	0.1331:0.4137:0.0:0.4533	.	.	.	.	X	457	.	ENSP00000367345:Y457X	Y	+	3	2	PCDHGA1	140691806	0.000000	0.05858	0.371000	0.25978	0.807000	0.45602	-0.314000	0.08092	-0.385000	0.07833	-0.157000	0.13467	TAC		0.478	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		38	103	1	0	1.04e-10	1.33e-10	38	103				
PCDHGA3	56112	broad.mit.edu	37	5	140723908	140723908	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:140723908T>A	ENST00000253812.6	+	1	308	c.308T>A	c.(307-309)cTg>cAg	p.L103Q	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	103	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCTGTGTCTGGTAAAAATT	0.433																																						uc003ljm.1		NA																	0				breast(1)	1						c.(307-309)CTG>CAG		protocadherin gamma subfamily A, 3 isoform 1							34.0	38.0	36.0					5																	140723908		2056	4246	6302	SO:0001583	missense	56112				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140723908T>A	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.308T>A	5.37:g.140723908T>A	ENSP00000253812:p.Leu103Gln					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_5'UTR|PCDHGA3_uc011dap.1_Missense_Mutation_p.L103Q	p.L103Q	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	308	+			103			Cadherin 1.|Extracellular (Potential).		Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	c.308T>A	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	3.954	-0.011671	0.07727	.	.	ENSG00000254245	ENST00000253812	T	0.30714	1.52	5.65	3.26	0.37387	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.823791	0.09423	U	0.804128	T	0.38904	0.1058	M	0.81497	2.545	0.09310	N	1	B;B	0.31318	0.319;0.31	B;B	0.34931	0.192;0.178	T	0.30679	-0.9970	10	0.39692	T	0.17	.	9.016	0.36170	0.0:0.1558:0.0:0.8442	.	103;103	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	Q	103	ENSP00000253812:L103Q	ENSP00000253812:L103Q	L	+	2	0	PCDHGA3	140704092	0.000000	0.05858	0.000000	0.03702	0.162000	0.22319	0.248000	0.18198	0.506000	0.28125	0.533000	0.62120	CTG		0.433	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		19	49	0	0	0	0	19	49				
PCDHGB4	8641	broad.mit.edu	37	5	140768224	140768224	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:140768224G>T	ENST00000519479.1	+	1	773	c.773G>T	c.(772-774)gGg>gTg	p.G258V	PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	258	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGTACCCGGGGACCACGGTG	0.498																																						uc003lkc.1		NA																	0					0						c.(772-774)GGG>GTG		protocadherin gamma subfamily B, 4 isoform 1							154.0	157.0	156.0					5																	140768224		2043	4192	6235	SO:0001583	missense	8641				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140768224G>T	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.773G>T	5.37:g.140768224G>T	ENSP00000428288:p.Gly258Val					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.G258V	p.G258V	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	773	+			258			Cadherin 3.|Extracellular (Potential).		O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	ENST00000519479.1	37	c.773G>T	CCDS54928.1	.	.	.	.	.	.	.	.	.	.	.	12.94	2.088119	0.36855	.	.	ENSG00000253953	ENST00000519479	T	0.70399	-0.48	4.99	4.99	0.66335	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.89553	0.6748	H	0.98370	4.215	0.51482	D	0.99992	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.92436	0.5958	9	0.87932	D	0	.	12.0722	0.53624	0.0793:0.0:0.9207:0.0	.	258;258	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	V	258	ENSP00000428288:G258V	ENSP00000428288:G258V	G	+	2	0	PCDHGB4	140748408	1.000000	0.71417	0.135000	0.22099	0.003000	0.03518	3.997000	0.57016	2.468000	0.83385	0.655000	0.94253	GGG		0.498	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736		44	150	1	0	1.3e-32	1.93e-32	44	150				
SH3TC2	79628	broad.mit.edu	37	5	148427468	148427468	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:148427468C>G	ENST00000515425.1	-	3	337	c.236G>C	c.(235-237)tGg>tCg	p.W79S	SH3TC2_ENST00000394358.2_5'UTR|SH3TC2_ENST00000512049.1_Missense_Mutation_p.W79S	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	79					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCAGTGCCCAGAGCCGCCT	0.527																																						uc003lpu.2		NA																	0				ovary(2)	2						c.(235-237)TGG>TCG		SH3 domain and tetratricopeptide repeats 2							110.0	107.0	108.0					5																	148427468		2203	4300	6503	SO:0001583	missense	79628						binding	g.chr5:148427468C>G	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.236G>C	5.37:g.148427468C>G	ENSP00000423660:p.Trp79Ser					SH3TC2_uc003lpp.1_RNA|SH3TC2_uc003lpt.2_5'UTR|SH3TC2_uc010jgx.2_Missense_Mutation_p.W79S|SH3TC2_uc003lpv.1_5'UTR|SH3TC2_uc011dbz.1_5'UTR|SH3TC2_uc003lpw.1_Missense_Mutation_p.W79S	p.W79S	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	388	-			79					B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	ENST00000515425.1	37	c.236G>C	CCDS4293.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.695288	0.48202	.	.	ENSG00000169247	ENST00000515425;ENST00000512049	T;T	0.76839	-1.04;-1.05	5.38	5.38	0.77491	.	0.080607	0.52532	D	0.000066	D	0.85410	0.5690	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.974;0.999;0.974	T	0.83198	-0.0080	10	0.33141	T	0.24	.	16.2032	0.82103	0.0:1.0:0.0:0.0	.	79;79;79	Q14CC0;D6RFX2;Q8TF17	.;.;S3TC2_HUMAN	S	79	ENSP00000423660:W79S;ENSP00000421860:W79S	ENSP00000313025:W79S	W	-	2	0	SH3TC2	148407661	1.000000	0.71417	1.000000	0.80357	0.131000	0.20780	4.459000	0.60102	2.680000	0.91292	0.655000	0.94253	TGG		0.527	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		40	139	0	0	0	0	40	139				
IL12B	3593	broad.mit.edu	37	5	158750296	158750296	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:158750296C>A	ENST00000231228.2	-	3	585	c.130G>T	c.(130-132)Gaa>Taa	p.E44*		NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B	44	Ig-like C2-type.				cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|interferon-gamma biosynthetic process (GO:0042095)|natural killer cell activation (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of cell adhesion (GO:0045785)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of NK T cell proliferation (GO:0051142)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to UV-B (GO:0010224)|sensory perception of pain (GO:0019233)|sexual reproduction (GO:0019953)|T-helper 1 type immune response (GO:0042088)|T-helper cell differentiation (GO:0042093)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|interleukin-12 complex (GO:0043514)|interleukin-23 complex (GO:0070743)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)|identical protein binding (GO:0042802)|interleukin-12 alpha subunit binding (GO:0042164)|interleukin-12 receptor binding (GO:0005143)|protein heterodimerization activity (GO:0046982)			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACCACCATTTCTCCAGGGGCA	0.512																																						uc003lxr.1		NA																	0					0						c.(130-132)GAA>TAA		interleukin 12B precursor							82.0	74.0	76.0					5																	158750296		2203	4300	6503	SO:0001587	stop_gained	3593				cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity	g.chr5:158750296C>A	M65290	CCDS4346.1	5q31.1-q33.1	2014-09-17	2014-04-04		ENSG00000113302	ENSG00000113302		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5970	protein-coding gene	gene with protein product	"""natural killer cell stimulatory factor-2"", ""cytotoxic lymphocyte maturation factor 2, p40"", ""interleukin 12, p40"", ""natural killer cell stimulatory factor, 40 kD subunit"", ""interleukin-12 beta chain"", ""IL12, subunit p40"""	161561	"""interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)"""	NKSF2		1673147	Standard	NM_002187		Approved	CLMF, IL-12B, NKSF, CLMF2	uc003lxr.1	P29460	OTTHUMG00000130307	ENST00000231228.2:c.130G>T	5.37:g.158750296C>A	ENSP00000231228:p.Glu44*						p.E44*	NM_002187	NP_002178	P29460	IL12B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		3	172	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	44			Ig-like C2-type.			Nonsense_Mutation	SNP	ENST00000231228.2	37	c.130G>T	CCDS4346.1	.	.	.	.	.	.	.	.	.	.	C	39	7.739226	0.98462	.	.	ENSG00000113302	ENST00000231228	.	.	.	6.02	6.02	0.97574	.	0.154288	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	16.0408	0.80680	0.0:1.0:0.0:0.0	.	.	.	.	X	44	.	ENSP00000231228:E44X	E	-	1	0	IL12B	158682874	1.000000	0.71417	0.998000	0.56505	0.634000	0.38068	2.249000	0.43169	2.865000	0.98341	0.655000	0.94253	GAA		0.512	IL12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252652.2	NM_002187		13	35	1	0	1.58e-08	1.94e-08	13	35				
NSD1	64324	broad.mit.edu	37	5	176638275	176638275	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:176638275G>T	ENST00000439151.2	+	5	2920	c.2875G>T	c.(2875-2877)Gga>Tga	p.G959*	NSD1_ENST00000361032.4_Nonsense_Mutation_p.G856*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.G690*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.G690*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	959					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TTTGGTTTCAGGAGGCTCCAC	0.512			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												uc003mfr.3		NA		Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				ovary(2)|kidney(1)	3						c.(2875-2877)GGA>TGA		nuclear receptor binding SET domain protein 1							63.0	63.0	63.0					5																	176638275		2203	4300	6503	SO:0001587	stop_gained	64324	Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176638275G>T	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.2875G>T	5.37:g.176638275G>T	ENSP00000395929:p.Gly959*	HNSCC(47;0.14)				NSD1_uc003mft.3_Nonsense_Mutation_p.G690*|NSD1_uc003mfs.1_Nonsense_Mutation_p.G856*|NSD1_uc011dfx.1_Nonsense_Mutation_p.G607*	p.G959*	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	5	3013	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	959					Q96PD8|Q96RN7	Nonsense_Mutation	SNP	ENST00000439151.2	37	c.2875G>T	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	39	7.504635	0.98325	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	.	.	.	4.83	4.83	0.62350	.	0.106561	0.41712	D	0.000835	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5435	0.56186	0.0813:0.0:0.9187:0.0	.	.	.	.	X	690;959;690;856	.	.	G	+	1	0	NSD1	176570881	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	1.718000	0.38001	2.669000	0.90835	0.655000	0.94253	GGA		0.512	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		12	39	1	0	6.4e-05	7.16e-05	12	39				
NSD1	64324	broad.mit.edu	37	5	176707725	176707725	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:176707725G>T	ENST00000439151.2	+	18	5827	c.5782G>T	c.(5782-5784)Gga>Tga	p.G1928*	NSD1_ENST00000347982.4_Nonsense_Mutation_p.G1659*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.G1659*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.G1825*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1928	AWS. {ECO:0000255|PROSITE- ProRule:PRU00562}.				gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GTGTCCTGCCGGAGGGCGCTG	0.512			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												uc003mfr.3		NA		Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				ovary(2)|kidney(1)	3						c.(5782-5784)GGA>TGA		nuclear receptor binding SET domain protein 1							72.0	66.0	68.0					5																	176707725		2203	4300	6503	SO:0001587	stop_gained	64324	Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176707725G>T	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.5782G>T	5.37:g.176707725G>T	ENSP00000395929:p.Gly1928*	HNSCC(47;0.14)				NSD1_uc003mft.3_Nonsense_Mutation_p.G1659*|NSD1_uc003mfs.1_Nonsense_Mutation_p.G1825*|NSD1_uc011dfx.1_Nonsense_Mutation_p.G1576*	p.G1928*	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	18	5920	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1928			AWS.		Q96PD8|Q96RN7	Nonsense_Mutation	SNP	ENST00000439151.2	37	c.5782G>T	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	43	10.032805	0.99321	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	.	.	.	5.92	5.05	0.67936	.	0.000000	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	15.2971	0.73916	0.0672:0.0:0.9328:0.0	.	.	.	.	X	1659;1928;1659;1825	.	ENSP00000343209:G1659X	G	+	1	0	NSD1	176640331	1.000000	0.71417	0.077000	0.20336	0.408000	0.30992	9.869000	0.99810	1.506000	0.48736	0.650000	0.86243	GGA		0.512	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		17	63	1	0	3.41e-10	4.32e-10	17	63				
HIST1H3B	8358	broad.mit.edu	37	6	26032089	26032089	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:26032089G>C	ENST00000244661.2	-	1	199	c.200C>G	c.(199-201)cCg>cGg	p.P67R		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	67					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						GCGCTGGAACGGCAGCTTCCG	0.617																																						uc003nfs.1		NA																	0				ovary(2)	2						c.(199-201)CCG>CGG		histone cluster 1, H3b							69.0	77.0	74.0					6																	26032089		2203	4300	6503	SO:0001583	missense	8358				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26032089G>C	X00090	CCDS4573.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000124693	ENSG00000274267		"""Histones / Replication-dependent"""	4776	protein-coding gene	gene with protein product		602819	"""H3 histone family, member L"", ""histone 1, H3b"""	H3FL		6647026, 9119399, 12408966	Standard	NM_003537		Approved	H3/l	uc003nfs.1	P68431	OTTHUMG00000014415	ENST00000244661.2:c.200C>G	6.37:g.26032089G>C	ENSP00000244661:p.Pro67Arg						p.P67R	NM_003537	NP_003528	P68431	H31_HUMAN			1	200	-			67					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000244661.2	37	c.200C>G	CCDS4573.1	.	.	.	.	.	.	.	.	.	.	g	14.40	2.524568	0.44969	.	.	ENSG00000124693	ENST00000244661	T	0.74842	-0.88	5.19	5.19	0.71726	.	.	.	.	.	D	0.82811	0.5118	.	.	.	0.52099	D	0.999946	.	.	.	.	.	.	D	0.84959	0.0876	6	0.87932	D	0	.	18.0628	0.89382	0.0:0.0:1.0:0.0	.	.	.	.	R	67	ENSP00000244661:P67R	ENSP00000244661:P67R	P	-	2	0	HIST1H3B	26140068	1.000000	0.71417	0.999000	0.59377	0.026000	0.11368	9.385000	0.97223	2.577000	0.86979	0.561000	0.74099	CCG		0.617	HIST1H3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040077.1	NM_003537		12	138	0	0	0	0	12	138				
BTN3A3	10384	broad.mit.edu	37	6	26451920	26451920	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:26451920C>A	ENST00000244519.2	+	11	1279	c.1036C>A	c.(1036-1038)Cca>Aca	p.P346T	BTN3A3_ENST00000339789.4_Missense_Mutation_p.P304T|BTN3A3_ENST00000361232.3_Missense_Mutation_p.P297T	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	346	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						GATTCTGGATCCAGACACGGC	0.552																																						uc003nhz.2		NA																	0					0						c.(1036-1038)CCA>ACA		butyrophilin, subfamily 3, member A3 isoform a							63.0	67.0	66.0					6																	26451920		2203	4300	6503	SO:0001583	missense	10384					integral to membrane		g.chr6:26451920C>A	U90548	CCDS4611.1, CCDS4612.1, CCDS4612.2	6p22.1	2014-01-14			ENSG00000111801	ENSG00000111801		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1140	protein-coding gene	gene with protein product		613595				10354554, 9149941	Standard	NM_006994		Approved	BTF3, BTN3.3	uc003nhz.3	O00478	OTTHUMG00000014451	ENST00000244519.2:c.1036C>A	6.37:g.26451920C>A	ENSP00000244519:p.Pro346Thr					BTN3A3_uc003nia.2_Missense_Mutation_p.P304T|BTN3A3_uc011dkn.1_Missense_Mutation_p.P297T	p.P346T	NM_006994	NP_008925	O00478	BT3A3_HUMAN			11	1216	+			346			B30.2/SPRY.|Cytoplasmic (Potential).		B4DWI7|E9PCP5	Missense_Mutation	SNP	ENST00000244519.2	37	c.1036C>A	CCDS4611.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.578780	0.46006	.	.	ENSG00000111801	ENST00000244519;ENST00000339789;ENST00000361232;ENST00000490254	T;T;T;T	0.19806	2.12;2.12;2.12;2.12	3.06	3.06	0.35304	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.34106	0.0886	M	0.85299	2.745	0.28384	N	0.919396	P;D	0.89917	0.876;1.0	P;D	0.87578	0.522;0.998	T	0.06954	-1.0798	9	0.66056	D	0.02	.	8.0416	0.30526	0.243:0.757:0.0:0.0	.	297;346	E9PCP5;O00478	.;BT3A3_HUMAN	T	346;304;297;136	ENSP00000244519:P346T;ENSP00000344968:P304T;ENSP00000355238:P297T;ENSP00000419736:P136T	ENSP00000244519:P346T	P	+	1	0	BTN3A3	26559899	0.995000	0.38212	0.560000	0.28344	0.644000	0.38419	4.379000	0.59575	1.632000	0.50472	0.455000	0.32223	CCA		0.552	BTN3A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040116.2	NM_006994		24	43	1	0	2.89e-11	3.71e-11	24	43				
ZKSCAN8	7745	broad.mit.edu	37	6	28120855	28120855	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:28120855A>G	ENST00000330236.6	+	6	981	c.797A>G	c.(796-798)aAc>aGc	p.N266S	ZKSCAN8_ENST00000457389.2_Missense_Mutation_p.N266S	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2	Q15776	ZKSC8_HUMAN	zinc finger with KRAB and SCAN domains 8	266	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)										AGGAGTGAGAACAGGGAATTA	0.418																																						uc003nkn.1		NA																	0					0						c.(796-798)AAC>AGC		zinc finger protein 192							93.0	91.0	92.0					6																	28120855		2203	4300	6503	SO:0001583	missense	7745				viral reproduction	cytoplasm|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28120855A>G		CCDS4645.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000198315	ENSG00000198315		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12983	protein-coding gene	gene with protein product		602240	"""zinc finger protein 192"""	ZNF192			Standard	NM_001278119		Approved	LD5-1, ZSCAN40	uc003nkn.2	Q15776	OTTHUMG00000014510	ENST00000330236.6:c.797A>G	6.37:g.28120855A>G	ENSP00000332750:p.Asn266Ser					ZNF192_uc010jqx.1_Missense_Mutation_p.N266S|ZNF192_uc010jqy.1_Missense_Mutation_p.N79S|ZNF192_uc011dkz.1_Missense_Mutation_p.N79S	p.N266S	NM_006298	NP_006289	Q15776	ZN192_HUMAN			6	981	+			266			KRAB.		A1L3D4|B4DYF1|Q4VAR1|Q4VAR2|Q4VAR3|Q9H4T1	Missense_Mutation	SNP	ENST00000330236.6	37	c.797A>G	CCDS4645.1	.	.	.	.	.	.	.	.	.	.	A	16.22	3.060678	0.55432	.	.	ENSG00000198315	ENST00000330236;ENST00000457389	T;T	0.00816	5.66;5.66	5.94	4.77	0.60923	Krueppel-associated box (3);	0.096190	0.46145	D	0.000302	T	0.01124	0.0037	L	0.34521	1.04	0.80722	D	1	D	0.69078	0.997	D	0.70716	0.97	T	0.76302	-0.3009	10	0.31617	T	0.26	.	10.076	0.42360	0.9214:0.0:0.0786:0.0	.	266	Q15776	ZN192_HUMAN	S	266	ENSP00000332750:N266S;ENSP00000402948:N266S	ENSP00000332750:N266S	N	+	2	0	ZNF192	28228834	0.021000	0.18746	1.000000	0.80357	0.956000	0.61745	0.127000	0.15790	2.272000	0.75746	0.460000	0.39030	AAC		0.418	ZKSCAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040178.2			17	112	0	0	0	0	17	112				
ZBED9	114821	broad.mit.edu	37	6	28547174	28547174	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:28547174T>G	ENST00000452236.2	-	2	1060	c.443A>C	c.(442-444)cAg>cCg	p.Q148P	SCAND3_ENST00000530247.1_5'UTR	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						AGAAACTTCCTGCCCATATGT	0.408																																						uc003nlo.2		NA																	0				ovary(1)	1						c.(442-444)CAG>CCG		SCAN domain containing 3							126.0	119.0	121.0					6																	28547174		2203	4300	6503	SO:0001583	missense	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28547174T>G																												ENST00000452236.2:c.443A>C	6.37:g.28547174T>G	ENSP00000395259:p.Gln148Pro						p.Q148P	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN			2	1061	-			148						Missense_Mutation	SNP	ENST00000452236.2	37	c.443A>C	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	T	0.026	-1.366871	0.01225	.	.	ENSG00000232040	ENST00000452236	T	0.01613	4.73	3.3	0.791	0.18619	Transcription regulator SCAN (1);	.	.	.	.	T	0.00356	0.0011	N	0.11560	0.145	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41734	-0.9492	9	0.31617	T	0.26	.	3.5902	0.07986	0.0:0.1341:0.2542:0.6117	.	148	Q6R2W3	SCND3_HUMAN	P	148	ENSP00000395259:Q148P	ENSP00000395259:Q148P	Q	-	2	0	SCAND3	28655153	0.000000	0.05858	0.001000	0.08648	0.026000	0.11368	-0.009000	0.12765	-0.056000	0.13221	0.374000	0.22700	CAG		0.408	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			20	136	0	0	0	0	20	136				
OR14J1	442191	broad.mit.edu	37	6	29275361	29275361	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:29275361C>A	ENST00000377160.2	+	1	959	c.895C>A	c.(895-897)Ctg>Atg	p.L299M		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	299						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						GAAGGCAGCACTGAGGAAGAT	0.398																																						uc011dln.1		NA																	0				ovary(1)	1						c.(895-897)CTG>ATG		olfactory receptor, family 5, subfamily U member							91.0	95.0	94.0					6																	29275361		1509	2708	4217	SO:0001583	missense	442191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29275361C>A		CCDS34362.1	6p21.3	2012-08-09	2008-04-02	2008-04-02	ENSG00000204695	ENSG00000204695		"""GPCR / Class A : Olfactory receptors"""	13971	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily U, member 1"""	OR5U1			Standard	NM_030946		Approved	hs6M1-28	uc011dln.2	Q9UGF5	OTTHUMG00000031184	ENST00000377160.2:c.895C>A	6.37:g.29275361C>A	ENSP00000366365:p.Leu299Met						p.L299M	NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN			1	895	+			299			Cytoplasmic (Potential).		A2BEC2|B0V078|Q5ST27	Missense_Mutation	SNP	ENST00000377160.2	37	c.895C>A	CCDS34362.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.644863	0.47258	.	.	ENSG00000204695	ENST00000377160	T	0.46451	0.87	4.86	2.09	0.27110	.	0.251437	0.20351	N	0.094056	T	0.20292	0.0488	N	0.13299	0.325	0.09310	N	1	D	0.63046	0.992	P	0.61800	0.894	T	0.04752	-1.0929	10	0.39692	T	0.17	.	5.5672	0.17177	0.0:0.5034:0.2683:0.2283	.	299	Q9UGF5	O14J1_HUMAN	M	299	ENSP00000366365:L299M	ENSP00000366365:L299M	L	+	1	2	OR14J1	29383340	0.000000	0.05858	0.045000	0.18777	0.523000	0.34469	-1.185000	0.03073	0.337000	0.23665	0.650000	0.86243	CTG		0.398	OR14J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076362.2			83	97	1	0	4e-42	6.07e-42	83	97				
OR10C1	442194	broad.mit.edu	37	6	29408401	29408401	+	Silent	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:29408401C>A	ENST00000444197.2	+	1	1319	c.609C>A	c.(607-609)gcC>gcA	p.A203A	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TGGCAACAGCCCTCCTCATCC	0.577																																						uc011dlp.1		NA																	0					0						c.(607-609)GCC>GCA		olfactory receptor, family 10, subfamily C,							188.0	197.0	193.0					6																	29408401		1511	2709	4220	SO:0001819	synonymous_variant	442194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29408401C>A		CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"""GPCR / Class A : Olfactory receptors"""	8165	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily C, member 2"", ""olfactory receptor, family 10, subfamily C, member 1"""	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.609C>A	6.37:g.29408401C>A						OR11A1_uc010jrh.1_Intron	p.A203A	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN			1	609	+			203			Helical; Name=5; (Potential).		Q5SUN7|Q96R18	Silent	SNP	ENST00000444197.2	37	c.609C>A	CCDS34364.1																																																																																				0.577	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2			121	238	1	0	2.75e-45	4.18e-45	121	238				
PSMB8	5696	broad.mit.edu	37	6	32805816	32805816	+	IGR	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:32805816C>G	ENST00000374882.3	-	0	1124				TAP2_ENST00000374897.2_Silent_p.L65L|TAP2_ENST00000374899.4_Silent_p.L65L|TAP2_ENST00000452392.2_Silent_p.L65L	NM_148919.3	NP_683720.2	P28062	PSB8_HUMAN	proteasome (prosome, macropain) subunit, beta type, 8						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11					Carfilzomib(DB08889)	GCGGGAGCAGCAGTGTCCCCA	0.672																																					NSCLC(48;53 1172 10859 13624 22883)	uc003occ.2		NA																	0					0						c.(193-195)CTG>CTC		transporter 2, ATP-binding cassette, sub-family							50.0	54.0	53.0					6																	32805816		1510	2708	4218	SO:0001628	intergenic_variant	6891				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32805816C>G		CCDS4756.1, CCDS4757.1	6p21.3	2013-03-27	2013-03-27		ENSG00000204264	ENSG00000204264		"""Proteasome (prosome, macropain) subunits"""	9545	protein-coding gene	gene with protein product		177046	"""proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional protease 7)"", ""large multifunctional peptidase 7"""	LMP7		1529427, 10329130	Standard	XM_005275000		Approved	RING10, D6S216E, PSMB5i, beta5i	uc003oce.3	P28062	OTTHUMG00000031285		6.37:g.32805816C>G						TAP2_uc011dqf.1_Silent_p.L65L|TAP2_uc003ocb.1_Silent_p.L65L|TAP2_uc003ocd.2_Silent_p.L65L	p.L65L	NM_018833	NP_061313	Q03519	TAP2_HUMAN			1	226	-			65			Helical; Name=2; (Potential).		B0UZC0|Q29824|Q5JNW6|Q5QNR8|Q96J48	Silent	SNP	ENST00000374882.3	37	c.195G>C	CCDS4757.1																																																																																				0.672	PSMB8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076617.3	NM_148919		24	98	0	0	0	0	24	98				
PIM1	5292	broad.mit.edu	37	6	37138806	37138806	+	Splice_Site	SNP	T	T	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:37138806T>C	ENST00000373509.5	+	3	612	c.239T>C	c.(238-240)cTg>cCg	p.L80P		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	171					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	TGGGGAGAGCTGGTGAGTGCC	0.677			T	BCL6	NHL																																	uc003onk.2		NA		Dom	yes		6	6p21.2	5292	T	pim-1 oncogene			L	BCL6		NHL		0				large_intestine(1)|central_nervous_system(1)	2						c.(238-240)CTG>CCG		non-specific serine/threonine protein kinase	Adenosine monophosphate(DB00131)						50.0	52.0	52.0					6																	37138806		2203	4300	6503	SO:0001630	splice_region_variant	5292				cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation	cytoplasm|nucleus|plasma membrane	ATP binding|manganese ion binding|protein binding|protein binding|protein serine/threonine kinase activity|transcription factor binding	g.chr6:37138806T>C		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"""pim-1 oncogene"""	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.240+1T>C	6.37:g.37138806T>C						PIM1_uc011dtw.1_5'Flank	p.L80P	NM_002648	NP_002639	P11309	PIM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(102;0.241)		3	669	+			171			Protein kinase.		Q38RT9|Q5T7H7|Q96RG3	Missense_Mutation	SNP	ENST00000373509.5	37	c.239T>C	CCDS4830.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.236227	0.79800	.	.	ENSG00000137193	ENST00000373509	T	0.65364	-0.15	4.44	4.44	0.53790	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	0.56097	D	0.000034	T	0.66886	0.2835	L	0.51914	1.62	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.71981	-0.4428	10	0.87932	D	0	.	13.8108	0.63262	0.0:0.0:0.0:1.0	.	171	P11309	PIM1_HUMAN	P	80	ENSP00000362608:L80P	ENSP00000362608:L80P	L	+	2	0	PIM1	37246784	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.709000	0.54853	1.997000	0.58415	0.448000	0.29417	CTG		0.677	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1		Missense_Mutation	4	131	0	0	0	0	4	131				
MEP1A	4224	broad.mit.edu	37	6	46800982	46800982	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:46800982G>A	ENST00000230588.4	+	11	1325	c.1316G>A	c.(1315-1317)cGg>cAg	p.R439Q		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	439	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R439Q(1)|p.R439L(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TGGACAGTCCGGAATTTCTCC	0.512																																						uc010jzh.1		NA																	2	Substitution - Missense(2)		lung(1)|breast(1)	pancreas(2)|ovary(1)	3						c.(1315-1317)CGG>CAG		meprin A alpha precursor							54.0	59.0	57.0					6																	46800982		2203	4300	6503	SO:0001583	missense	4224				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	g.chr6:46800982G>A		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.1316G>A	6.37:g.46800982G>A	ENSP00000230588:p.Arg439Gln					MEP1A_uc011dwg.1_Missense_Mutation_p.R161Q|MEP1A_uc011dwh.1_Missense_Mutation_p.R467Q|MEP1A_uc011dwi.1_Missense_Mutation_p.R339Q	p.R439Q	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Lung(136;0.192)		11	1358	+			439			MATH.|Extracellular (Potential).		A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	ENST00000230588.4	37	c.1316G>A	CCDS4918.1	.	.	.	.	.	.	.	.	.	.	G	7.780	0.709238	0.15239	.	.	ENSG00000112818	ENST00000230588	T	0.45668	0.89	5.57	2.84	0.33178	TRAF-type (1);TRAF-like (1);MATH (3);	0.543205	0.21420	N	0.074833	T	0.12178	0.0296	L	0.41906	1.305	0.09310	N	1	B;P	0.36768	0.023;0.569	B;B	0.24006	0.01;0.05	T	0.05835	-1.0861	10	0.34782	T	0.22	-10.8817	11.3754	0.49724	0.2632:0.0:0.7368:0.0	.	467;439	B7ZL91;Q16819	.;MEP1A_HUMAN	Q	439	ENSP00000230588:R439Q	ENSP00000230588:R439Q	R	+	2	0	MEP1A	46908941	0.088000	0.21588	0.211000	0.23655	0.407000	0.30961	2.426000	0.44731	0.061000	0.16311	-0.813000	0.03139	CGG		0.512	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588		32	103	0	0	0	0	32	103				
PKHD1	5314	broad.mit.edu	37	6	51732776	51732776	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:51732776G>C	ENST00000371117.3	-	48	7893	c.7618C>G	c.(7618-7620)Ctt>Gtt	p.L2540V	PKHD1_ENST00000340994.4_Missense_Mutation_p.L2540V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2540					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ATAGAAGCAAGAATGTGACTT	0.438																																						uc003pah.1		NA																	0				lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(7618-7620)CTT>GTT		fibrocystin isoform 1							91.0	84.0	87.0					6																	51732776		2203	4299	6502	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51732776G>C	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.7618C>G	6.37:g.51732776G>C	ENSP00000360158:p.Leu2540Val					PKHD1_uc010jzn.1_Missense_Mutation_p.L523V|PKHD1_uc003pai.2_Missense_Mutation_p.L2540V	p.L2540V	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			48	7894	-	Lung NSC(77;0.0605)		2540			Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.7618C>G	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.232146	0.39498	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.86694	-1.98;-2.16	5.67	3.85	0.44370	.	0.184605	0.36101	N	0.002782	T	0.81408	0.4816	M	0.61703	1.905	0.29088	N	0.882263	D;P;D	0.76494	0.999;0.649;0.996	D;B;P	0.66351	0.943;0.312;0.787	T	0.72802	-0.4183	10	0.05620	T	0.96	.	7.8059	0.29202	0.073:0.0:0.6335:0.2935	.	2540;2540;2540	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	V	2540	ENSP00000360158:L2540V;ENSP00000341097:L2540V	ENSP00000341097:L2540V	L	-	1	0	PKHD1	51840735	1.000000	0.71417	0.980000	0.43619	0.788000	0.44548	2.248000	0.43160	0.715000	0.32103	0.591000	0.81541	CTT		0.438	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		12	78	0	0	0	0	12	78				
DST	667	broad.mit.edu	37	6	56496758	56496758	+	Missense_Mutation	SNP	G	G	A	rs200853096		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:56496758G>A	ENST00000361203.3	-	25	3260	c.3253C>T	c.(3253-3255)Cgg>Tgg	p.R1085W	DST_ENST00000370765.6_Missense_Mutation_p.R759W|DST_ENST00000421834.2_Missense_Mutation_p.R1085W|DST_ENST00000518935.1_Missense_Mutation_p.R759W|DST_ENST00000370788.2_Missense_Mutation_p.R1085W|DST_ENST00000370769.4_Missense_Mutation_p.R1085W|DST_ENST00000370754.5_Missense_Mutation_p.R1263W|DST_ENST00000446842.2_Missense_Mutation_p.R759W|DST_ENST00000312431.6_Missense_Mutation_p.R1085W|DST_ENST00000244364.6_Missense_Mutation_p.R759W			Q03001	DYST_HUMAN	dystonin	1085					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTAATCAGCCGATCTTCACAG	0.388																																						uc003pdf.2		NA																	0				ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(3787-3789)CGG>TGG		dystonin isoform 2							110.0	108.0	108.0					6																	56496758		2203	4300	6503	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56496758G>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.3253C>T	6.37:g.56496758G>A	ENSP00000354508:p.Arg1085Trp					DST_uc003pcz.3_Missense_Mutation_p.R1085W|DST_uc011dxj.1_Missense_Mutation_p.R1114W|DST_uc011dxk.1_Missense_Mutation_p.R1125W|DST_uc003pcy.3_Missense_Mutation_p.R759W|DST_uc003pdb.2_Missense_Mutation_p.R759W|DST_uc003pdc.3_Missense_Mutation_p.R759W|DST_uc003pdd.3_Missense_Mutation_p.R759W	p.R1263W	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		28	3815	-	Lung NSC(77;0.103)		1085					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.3787C>T		.	.	.	.	.	.	.	.	.	.	G	26.1	4.703460	0.88924	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	T;T;T;T;T;T;T;T;T;T;T;T	0.67345	1.29;1.29;1.29;1.29;1.29;1.29;1.29;-0.26;1.29;1.29;1.29;0.65	5.84	4.01	0.46588	.	0.147317	0.31041	N	0.008376	T	0.73466	0.3590	M	0.71206	2.165	0.35614	D	0.808897	D;D;D;D;D;D;D;D	0.89917	0.997;1.0;0.997;1.0;1.0;1.0;0.995;1.0	B;D;B;D;D;D;B;D	0.83275	0.446;0.993;0.446;0.952;0.992;0.996;0.446;0.954	T	0.78036	-0.2361	9	0.62326	D	0.03	.	13.2828	0.60226	0.0:0.1213:0.7524:0.1263	.	1085;1085;1263;759;759;759;1085;759	Q5TBT1;E7ERU2;E9PEB9;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;DYST_HUMAN;.	W	759;1263;1085;1085;759;1085;1085;1085;759;1125;759;759	ENSP00000244364:R759W;ENSP00000359790:R1263W;ENSP00000359805:R1085W;ENSP00000400883:R1085W;ENSP00000393645:R759W;ENSP00000307959:R1085W;ENSP00000359824:R1085W;ENSP00000354508:R1085W;ENSP00000404924:R759W;ENSP00000431030:R1125W;ENSP00000359801:R759W;ENSP00000431003:R759W	ENSP00000244364:R759W	R	-	1	2	DST	56604717	1.000000	0.71417	0.867000	0.34043	0.986000	0.74619	4.890000	0.63178	0.764000	0.33197	0.591000	0.81541	CGG		0.388	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		35	103	0	0	0	0	35	103				
BAI3	577	broad.mit.edu	37	6	69646437	69646438	+	Missense_Mutation	DNP	CA	CA	TC			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:69646437_69646438CA>TC	ENST00000370598.1	+	5	1716_1717	c.895_896CA>TC	c.(895-897)CAg>TCg	p.Q299S		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	299	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AGAGTGGTCCCAGTGGAGCACA	0.46																																						uc003pev.3		NA																	0				lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50						c.(895-897)CAG>TCG		brain-specific angiogenesis inhibitor 3																																				SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69646437_69646438CA>TC	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	Exception_encountered	6.37:g.69646437_69646438delinsTC	ENSP00000359630:p.Gln299Ser					BAI3_uc010kak.2_Missense_Mutation_p.Q299S	p.Q299S	NM_001704	NP_001695	O60242	BAI3_HUMAN			5	1343_1344	+		all_lung(197;0.212)	299			TSP type-1 1.|Extracellular (Potential).		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	DNP	ENST00000370598.1	37	c.895_896CA>TC	CCDS4968.1																																																																																				0.460	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			19	26	0	0	0	0	19	26				
KHDC3L	154288	broad.mit.edu	37	6	74073333	74073333	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:74073333G>A	ENST00000370367.3	+	3	457	c.404G>A	c.(403-405)cGg>cAg	p.R135Q		NM_001017361.2	NP_001017361.1	Q587J8	KHD3L_HUMAN	KH domain containing 3-like, subcortical maternal complex member	135							RNA binding (GO:0003723)	p.R135Q(1)									GAGACCCAGCGGTCTTCAATA	0.637																																						uc003pgt.3		NA																	1	Substitution - Missense(1)		stomach(1)	skin(2)	2						c.(403-405)CGG>CAG		hypothetical protein LOC154288							31.0	37.0	35.0					6																	74073333		2203	4300	6503	SO:0001583	missense	154288							g.chr6:74073333G>A	AB211062	CCDS34484.1	6q13	2012-06-25	2012-06-25	2012-06-25	ENSG00000203908	ENSG00000203908			33699	protein-coding gene	gene with protein product	"""ES cell associated transcript 1"""	611687	"""chromosome 6 open reading frame 221"""	C6orf221		21885028	Standard	NM_001017361		Approved	ECAT1	uc003pgt.4	Q587J8	OTTHUMG00000015024	ENST00000370367.3:c.404G>A	6.37:g.74073333G>A	ENSP00000359392:p.Arg135Gln						p.R135Q	NM_001017361	NP_001017361	Q587J8	ECAT1_HUMAN			3	457	+			135					B2RNW7	Missense_Mutation	SNP	ENST00000370367.3	37	c.404G>A	CCDS34484.1	.	.	.	.	.	.	.	.	.	.	G	3.198	-0.164427	0.06502	.	.	ENSG00000203908	ENST00000370367	T	0.48522	0.81	2.78	-5.56	0.02529	.	2.525100	0.01680	N	0.026117	T	0.11153	0.0272	L	0.29908	0.895	0.09310	N	1	B	0.15930	0.015	B	0.14023	0.01	T	0.04053	-1.0981	10	0.41790	T	0.15	.	3.1603	0.06518	0.1449:0.1235:0.4834:0.2481	.	135	Q587J8	ECAT1_HUMAN	Q	135	ENSP00000359392:R135Q	ENSP00000359392:R135Q	R	+	2	0	C6orf221	74130054	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.975000	0.03790	-2.890000	0.00315	-2.285000	0.00268	CGG		0.637	KHDC3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041202.3	NM_001017361		21	85	0	0	0	0	21	85				
LCA5	167691	broad.mit.edu	37	6	80201313	80201313	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:80201313G>A	ENST00000392959.1	-	7	1701	c.1090C>T	c.(1090-1092)Ctt>Ttt	p.L364F	LCA5_ENST00000467898.3_Missense_Mutation_p.L364F|LCA5_ENST00000369846.4_Missense_Mutation_p.L364F	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	364					intraciliary transport (GO:0042073)|photoreceptor cell maintenance (GO:0045494)|protein transport (GO:0015031)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein complex binding (GO:0032403)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		ACCAAAGTAAGATGTCCTGGT	0.343																																						uc003pix.2		NA																	0					0						c.(1090-1092)CTT>TTT		Leber congenital amaurosis 5							187.0	170.0	175.0					6																	80201313		2203	4300	6503	SO:0001583	missense	167691				protein transport	cilium axoneme|microtubule basal body	protein binding	g.chr6:80201313G>A		CCDS4990.1	6q14	2014-01-28			ENSG00000135338	ENSG00000135338			31923	protein-coding gene	gene with protein product	"""lebercilin"""	611408	"""chromosome 6 open reading frame 152"""	C6orf152		10631161, 17546029	Standard	NM_181714		Approved		uc003pix.3	Q86VQ0	OTTHUMG00000015080	ENST00000392959.1:c.1090C>T	6.37:g.80201313G>A	ENSP00000376686:p.Leu364Phe					LCA5_uc003piy.2_Missense_Mutation_p.L364F|LCA5_uc011dyq.1_RNA	p.L364F	NM_001122769	NP_001116241	Q86VQ0	LCA5_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0657)	6	1525	-		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)	364					E1P542|Q9BWX7	Missense_Mutation	SNP	ENST00000392959.1	37	c.1090C>T	CCDS4990.1	.	.	.	.	.	.	.	.	.	.	G	4.073	0.011364	0.07912	.	.	ENSG00000135338	ENST00000369846;ENST00000392959	T;T	0.36520	1.25;1.25	4.73	3.85	0.44370	.	0.718330	0.13157	N	0.409389	T	0.16769	0.0403	L	0.47716	1.5	0.09310	N	1	B	0.20671	0.047	B	0.18263	0.021	T	0.06338	-1.0832	10	0.51188	T	0.08	-2.3484	10.4127	0.44303	0.0958:0.0:0.9042:0.0	.	364	Q86VQ0	LCA5_HUMAN	F	364	ENSP00000358861:L364F;ENSP00000376686:L364F	ENSP00000358861:L364F	L	-	1	0	LCA5	80258032	0.012000	0.17670	0.023000	0.16930	0.131000	0.20780	1.716000	0.37981	2.612000	0.88384	0.591000	0.81541	CTT		0.343	LCA5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259269.1	NM_181714		40	197	0	0	0	0	40	197				
MDN1	23195	broad.mit.edu	37	6	90472244	90472244	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:90472244T>G	ENST00000369393.3	-	16	2265	c.2150A>C	c.(2149-2151)aAa>aCa	p.K717T	MDN1_ENST00000428876.1_Missense_Mutation_p.K717T			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	717					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GTCCACCGGTTTATAACTGAA	0.408																																						uc003pnn.1		NA																	0				ovary(8)|skin(2)	10						c.(2149-2151)AAA>ACA		MDN1, midasin homolog							66.0	61.0	63.0					6																	90472244		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90472244T>G	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.2150A>C	6.37:g.90472244T>G	ENSP00000358400:p.Lys717Thr					MDN1_uc003pno.1_Missense_Mutation_p.K135T	p.K717T	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	16	2266	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	717					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.2150A>C	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	T	18.06	3.540446	0.65085	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.45276	0.9;0.9;0.9	5.86	5.86	0.93980	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.000000	0.85682	D	0.000000	T	0.62233	0.2411	M	0.82630	2.6	0.80722	D	1	D;D	0.89917	1.0;0.995	D;D	0.91635	0.999;0.996	T	0.68853	-0.5299	10	0.72032	D	0.01	.	16.2526	0.82494	0.0:0.0:0.0:1.0	.	644;717	Q5T795;Q9NU22	.;MDN1_HUMAN	T	717;717;644	ENSP00000358400:K717T;ENSP00000413970:K717T;ENSP00000409664:K644T	ENSP00000358400:K717T	K	-	2	0	MDN1	90528965	1.000000	0.71417	0.997000	0.53966	0.861000	0.49209	7.499000	0.81566	2.241000	0.73720	0.482000	0.46254	AAA		0.408	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			17	72	0	0	0	0	17	72				
FHL5	9457	broad.mit.edu	37	6	97051592	97051592	+	Missense_Mutation	SNP	C	C	A	rs138154376		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:97051592C>A	ENST00000326771.2	+	3	483	c.103C>A	c.(103-105)Cgt>Agt	p.R35S	FHL5_ENST00000541107.1_Missense_Mutation_p.R35S	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	35			R -> H (in dbSNP:rs35157931).		positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		ATGTTATGATCGTGTATTTTC	0.368																																						uc003pos.1		NA																	0				ovary(2)	2						c.(103-105)CGT>AGT		activator of cAMP-responsive element modulator							172.0	150.0	157.0					6																	97051592		2203	4300	6503	SO:0001583	missense	9457					nucleus	zinc ion binding	g.chr6:97051592C>A	AF278541	CCDS5035.1	6q16.1-q16.3	2008-02-05			ENSG00000112214	ENSG00000112214			17371	protein-coding gene	gene with protein product		605126					Standard	NM_020482		Approved	FLJ33049, ACT, dJ393D12.2	uc003pot.2	Q5TD97	OTTHUMG00000015239	ENST00000326771.2:c.103C>A	6.37:g.97051592C>A	ENSP00000326022:p.Arg35Ser					FHL5_uc003pot.1_Missense_Mutation_p.R35S	p.R35S	NM_020482	NP_065228	Q5TD97	FHL5_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0948)	3	508	+		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)	35					B2RBD1|E1P526|Q5TD98|Q8WW21|Q9NQU2	Missense_Mutation	SNP	ENST00000326771.2	37	c.103C>A	CCDS5035.1	.	.	.	.	.	.	.	.	.	.	C	4.972	0.180629	0.09443	.	.	ENSG00000112214	ENST00000541107;ENST00000326771;ENST00000450218	D;D;D	0.87256	-2.23;-2.23;-2.23	5.65	4.73	0.59995	Zinc finger, LIM-type (1);	0.157315	0.30410	N	0.009692	T	0.56615	0.1997	N	0.16201	0.385	0.29783	N	0.833849	B	0.14438	0.01	B	0.12837	0.008	T	0.34229	-0.9837	10	0.10902	T	0.67	.	8.6367	0.33953	0.2898:0.5885:0.1217:0.0	.	35	Q5TD97	FHL5_HUMAN	S	35	ENSP00000442357:R35S;ENSP00000326022:R35S;ENSP00000396390:R35S	ENSP00000326022:R35S	R	+	1	0	FHL5	97158313	0.126000	0.22350	0.818000	0.32626	0.009000	0.06853	3.852000	0.55934	2.650000	0.89964	0.591000	0.81541	CGT		0.368	FHL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041559.1	NM_020482		47	100	1	0	3.05e-18	4.25e-18	47	100				
FHL5	9457	broad.mit.edu	37	6	97053872	97053872	+	Silent	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:97053872C>A	ENST00000326771.2	+	5	809	c.429C>A	c.(427-429)atC>atA	p.I143I	FHL5_ENST00000541107.1_Silent_p.I143I	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	143	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.I143I(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		AGCCTTTGATCTCCAAAGAGA	0.413																																						uc003pos.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(427-429)ATC>ATA		activator of cAMP-responsive element modulator							111.0	100.0	103.0					6																	97053872		2203	4300	6503	SO:0001819	synonymous_variant	9457					nucleus	zinc ion binding	g.chr6:97053872C>A	AF278541	CCDS5035.1	6q16.1-q16.3	2008-02-05			ENSG00000112214	ENSG00000112214			17371	protein-coding gene	gene with protein product		605126					Standard	NM_020482		Approved	FLJ33049, ACT, dJ393D12.2	uc003pot.2	Q5TD97	OTTHUMG00000015239	ENST00000326771.2:c.429C>A	6.37:g.97053872C>A						FHL5_uc003pot.1_Silent_p.I143I	p.I143I	NM_020482	NP_065228	Q5TD97	FHL5_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0948)	5	834	+		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)	143			LIM zinc-binding 2.		B2RBD1|E1P526|Q5TD98|Q8WW21|Q9NQU2	Silent	SNP	ENST00000326771.2	37	c.429C>A	CCDS5035.1																																																																																				0.413	FHL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041559.1	NM_020482		34	72	1	0	3.11e-16	4.23e-16	34	72				
KLHL32	114792	broad.mit.edu	37	6	97562024	97562024	+	Silent	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:97562024C>A	ENST00000369261.4	+	7	1356	c.993C>A	c.(991-993)ccC>ccA	p.P331P	KLHL32_ENST00000536676.1_Silent_p.P295P|KLHL32_ENST00000539200.1_Silent_p.P262P|KLHL32_ENST00000544166.1_Intron	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	331				P -> S (in Ref. 1; BAB70899). {ECO:0000305}.						breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		AGCTGGCTCCCATGCCTGTGG	0.567																																						uc010kcm.1		NA																	0				ovary(3)|skin(1)	4						c.(991-993)CCC>CCA		kelch-like 32							89.0	85.0	87.0					6																	97562024		2203	4300	6503	SO:0001819	synonymous_variant	114792							g.chr6:97562024C>A	AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"""Kelch-like"", ""BTB/POZ domain containing"""	21221	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 5"", ""KIAA1900"", ""kelch-like 32 (Drosophila)"""	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.993C>A	6.37:g.97562024C>A						KLHL32_uc003poy.2_Silent_p.P331P|KLHL32_uc011ead.1_Silent_p.P295P|KLHL32_uc003poz.2_Intron|KLHL32_uc011eae.1_Silent_p.P262P|KLHL32_uc003ppa.2_Intron	p.P331P	NM_052904	NP_443136	Q96NJ5	KLH32_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0558)	7	1465	+		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)	331	P -> S (in Ref. 1; BAB70899).		Kelch 1.		B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Silent	SNP	ENST00000369261.4	37	c.993C>A	CCDS5038.1																																																																																				0.567	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041570.1	NM_052904		23	89	1	0	1.66e-10	2.11e-10	23	89				
AIM1	202	broad.mit.edu	37	6	106987308	106987308	+	Silent	SNP	G	G	A	rs577957311		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:106987308G>A	ENST00000369066.3	+	7	4012	c.3525G>A	c.(3523-3525)caG>caA	p.Q1175Q	AIM1_ENST00000535438.1_5'Flank	NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		CTGGATTTCAGGGTGTTCCTT	0.453													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18897	0.0		0.0	False		,,,				2504	0.0					uc003prh.2		NA																	0				breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	9						c.(3523-3525)CAG>CAA		absent in melanoma 1							153.0	140.0	144.0					6																	106987308		2203	4300	6503	SO:0001819	synonymous_variant	202						sugar binding	g.chr6:106987308G>A	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.3525G>A	6.37:g.106987308G>A						AIM1_uc003pri.2_5'Flank	p.Q1175Q	NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	7	4012	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	1175			Beta/gamma crystallin 'Greek key' 4.		Q6P2P0|Q9BTM3	Silent	SNP	ENST00000369066.3	37	c.3525G>A	CCDS34506.1																																																																																				0.453	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			41	188	0	0	0	0	41	188				
LAMA4	3910	broad.mit.edu	37	6	112469437	112469437	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:112469437G>T	ENST00000230538.7	-	18	2672	c.2275C>A	c.(2275-2277)Cta>Ata	p.L759I	LAMA4_ENST00000424408.2_Missense_Mutation_p.L752I|LAMA4_ENST00000389463.4_Missense_Mutation_p.L752I|LAMA4_ENST00000522006.1_Missense_Mutation_p.L752I	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	759	Domain II and I.				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)			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)		CAGTTGGTTAGATTGTTGGCC	0.517																																						uc003pvu.2		NA																	0				ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9						c.(2275-2277)CTA>ATA		laminin, alpha 4 isoform 1 precursor							124.0	117.0	119.0					6																	112469437		2203	4300	6503	SO:0001583	missense	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.chr6:112469437G>T		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.2275C>A	6.37:g.112469437G>T	ENSP00000230538:p.Leu759Ile					LAMA4_uc003pvv.2_Missense_Mutation_p.L752I|LAMA4_uc003pvt.2_Missense_Mutation_p.L752I	p.L759I	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)	18	2584	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	759			Domain II and I.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.2275C>A	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	G	9.903	1.207369	0.22205	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.39	0.0397	0.14206	Laminin II (1);	0.397619	0.26847	N	0.022195	T	0.20129	0.0484	L	0.55990	1.75	0.19775	N	0.999959	B;B	0.13145	0.007;0.005	B;B	0.14578	0.011;0.006	T	0.32719	-0.9896	10	0.56958	D	0.05	.	8.3926	0.32537	0.0719:0.564:0.2552:0.1089	.	759;752	Q16363;Q16363-2	LAMA4_HUMAN;.	I	759;752;752;752	ENSP00000230538:L759I;ENSP00000429488:L752I;ENSP00000374114:L752I;ENSP00000416470:L752I	ENSP00000230538:L759I	L	-	1	2	LAMA4	112576130	0.017000	0.18338	0.005000	0.12908	0.162000	0.22319	-0.044000	0.12023	0.050000	0.15949	0.655000	0.94253	CTA		0.517	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		27	108	1	0	4.78e-09	5.92e-09	27	108				
SOGA3	387104	broad.mit.edu	37	6	127797032	127797032	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:127797032G>T	ENST00000525778.1	-	6	2884	c.2139C>A	c.(2137-2139)aaC>aaA	p.N713K	SOGA3_ENST00000481848.2_Missense_Mutation_p.N713K|SOGA3_ENST00000368268.2_Missense_Mutation_p.N713K|SOGA3_ENST00000465909.2_Missense_Mutation_p.N713K|SOGA3_ENST00000474293.2_5'Flank|SOGA3_ENST00000556132.1_Missense_Mutation_p.N713K			Q5TF21	SOGA3_HUMAN	SOGA family member 3	713					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											CGCTGAGCTCGTTGATCTGCA	0.652																																						uc003qbd.2		NA																	0				breast(3)|ovary(2)|skin(1)	6						c.(2137-2139)AAC>AAA		hypothetical protein LOC387104 precursor							67.0	74.0	71.0					6																	127797032		2196	4296	6492	SO:0001583	missense	387104					integral to membrane		g.chr6:127797032G>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.2139C>A	6.37:g.127797032G>T	ENSP00000434570:p.Asn713Lys					C6orf174_uc003qbc.2_5'Flank	p.N713K	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN		GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)	6	3004	-			713			Potential.			Missense_Mutation	SNP	ENST00000525778.1	37	c.2139C>A	CCDS43505.1	.	.	.	.	.	.	.	.	.	.	g	15.38	2.815001	0.50527	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.34072	1.38;1.38;1.38;1.39	5.22	2.41	0.29592	.	0.000000	0.85682	D	0.000000	T	0.43033	0.1229	M	0.70275	2.135	0.48511	D	0.999666	D	0.65815	0.995	D	0.71184	0.972	T	0.42015	-0.9476	10	0.56958	D	0.05	-24.8487	9.8256	0.40910	0.4017:0.0:0.5983:0.0	.	713	Q5TF21	CF174_HUMAN	K	713	ENSP00000451768:N713K;ENSP00000357251:N713K;ENSP00000434570:N713K;ENSP00000435559:N713K	ENSP00000435559:N713K	N	-	3	2	C6orf174	127838725	0.975000	0.34042	1.000000	0.80357	0.994000	0.84299	0.143000	0.16115	0.584000	0.29591	-0.215000	0.12644	AAC		0.652	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		31	139	1	0	1.07e-11	1.38e-11	31	139				
EYA4	2070	broad.mit.edu	37	6	133769305	133769305	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:133769305T>A	ENST00000367895.5	+	5	729	c.265T>A	c.(265-267)Tct>Act	p.S89T	EYA4_ENST00000355286.6_Intron|EYA4_ENST00000431403.2_Missense_Mutation_p.S89T|EYA4_ENST00000525849.1_Intron|EYA4_ENST00000531901.1_Missense_Mutation_p.S89T|EYA4_ENST00000452339.2_Intron|EYA4_ENST00000430974.2_Intron|EYA4_ENST00000355167.3_Missense_Mutation_p.S89T	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	89					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CAACACCCCCTCTTCTGCAAC	0.453																																					Melanoma(57;398 1237 3528 4702 7415)	uc003qec.3		NA																	0				large_intestine(2)	2						c.(265-267)TCT>ACT		eyes absent 4 isoform a							134.0	110.0	118.0					6																	133769305		2203	4300	6503	SO:0001583	missense	2070				anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr6:133769305T>A	Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3522	protein-coding gene	gene with protein product		603550	"""eyes absent (Drosophila) homolog 4"", ""eyes absent homolog 4 (Drosophila)"""	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.265T>A	6.37:g.133769305T>A	ENSP00000356870:p.Ser89Thr					EYA4_uc011ecq.1_Intron|EYA4_uc011ecr.1_Intron|EYA4_uc003qed.3_Missense_Mutation_p.S89T|EYA4_uc003qee.3_Intron|EYA4_uc011ecs.1_Missense_Mutation_p.S89T|uc003qef.1_Intron	p.S89T	NM_004100	NP_004091	O95677	EYA4_HUMAN		GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)	5	723	+	Colorectal(23;0.221)		89					B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Missense_Mutation	SNP	ENST00000367895.5	37	c.265T>A	CCDS5165.1	.	.	.	.	.	.	.	.	.	.	T	14.59	2.582068	0.46006	.	.	ENSG00000112319	ENST00000367895;ENST00000355167;ENST00000531901;ENST00000431403	T;T;T;T	0.62639	0.01;0.01;0.01;0.01	5.6	5.6	0.85130	.	0.133205	0.52532	D	0.000080	T	0.29423	0.0733	N	0.22421	0.69	0.33639	D	0.607029	B;B;B	0.14438	0.004;0.01;0.01	B;B;B	0.12156	0.003;0.005;0.007	T	0.10291	-1.0636	10	0.12430	T	0.62	-1.4404	15.7894	0.78343	0.0:0.0:0.0:1.0	.	89;89;89	F2Z2Y1;O95677-4;O95677	.;.;EYA4_HUMAN	T	89	ENSP00000356870:S89T;ENSP00000347294:S89T;ENSP00000432770:S89T;ENSP00000404558:S89T	ENSP00000347294:S89T	S	+	1	0	EYA4	133810998	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.520000	0.60524	2.130000	0.65690	0.533000	0.62120	TCT		0.453	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100		21	48	0	0	0	0	21	48				
TBPL1	9519	broad.mit.edu	37	6	134305618	134305618	+	Splice_Site	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:134305618G>A	ENST00000237264.4	+	5	661		c.e5+1		TBPL1_ENST00000477527.1_Splice_Site|TBPL1_ENST00000367871.1_Splice_Site	NM_001253676.1|NM_004865.3	NP_001240605.1|NP_004856.1	P62380	TBPL1_HUMAN	TBP-like 1						acrosome assembly (GO:0001675)|DNA-templated transcription, initiation (GO:0006352)|dTTP biosynthetic process (GO:0006235)|regulation of transcription, DNA-templated (GO:0006355)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	6	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00591)|OV - Ovarian serous cystadenocarcinoma(155;0.00848)		CTCATGCCAGGTAAGTCTTTG	0.318																																						uc010kgg.2		NA																	0					0						c.e5+1		TBP-like 1							65.0	63.0	64.0					6																	134305618		2203	4300	6503	SO:0001630	splice_region_variant	9519				regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	cytoplasm	DNA binding|protein binding|transcription coactivator activity	g.chr6:134305618G>A	AB020881	CCDS5168.1	6q22.1-q22.3	2008-05-23			ENSG00000028839	ENSG00000028839			11589	protein-coding gene	gene with protein product		605521				10082669, 10220372, 15767669	Standard	NM_001253676		Approved	TLP, STUD, TRF2, TLF	uc010kgg.3	P62380	OTTHUMG00000015609	ENST00000237264.4:c.386+1G>A	6.37:g.134305618G>A						TBPL1_uc003qel.2_Splice_Site_p.S129_splice	p.S129_splice	NM_004865	NP_004856	P62380	TBPL1_HUMAN		GBM - Glioblastoma multiforme(68;0.00591)|OV - Ovarian serous cystadenocarcinoma(155;0.00848)	5	946	+	Colorectal(23;0.221)|Breast(56;0.247)							A8K8F5|O95753|Q9BWD5|Q9Z2Z0	Splice_Site	SNP	ENST00000237264.4	37	c.386_splice	CCDS5168.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.350626	0.61183	.	.	ENSG00000028839	ENST00000367871;ENST00000237264	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8858	0.92376	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TBPL1	134347311	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	7.614000	0.82996	2.703000	0.92315	0.558000	0.71614	.		0.318	TBPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042294.2		Intron	19	58	0	0	0	0	19	58				
AHI1	54806	broad.mit.edu	37	6	135788738	135788738	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:135788738T>C	ENST00000367800.4	-	4	386	c.170A>G	c.(169-171)aAa>aGa	p.K57R	AHI1_ENST00000327035.6_Missense_Mutation_p.K57R|AHI1_ENST00000457866.2_Missense_Mutation_p.K57R	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	57					cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		TGTAGTTTCTTTCATATAGTG	0.343																																						uc003qgi.2		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(169-171)AAA>AGA		Abelson helper integration site 1 isoform a							145.0	131.0	135.0					6																	135788738		1866	4099	5965	SO:0001583	missense	54806					adherens junction|cilium|microtubule basal body		g.chr6:135788738T>C	AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"""WD repeat domain containing"""	21575	protein-coding gene	gene with protein product	"""Jouberin"""	608894	"""Abelson helper integration site"""			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.170A>G	6.37:g.135788738T>C	ENSP00000356774:p.Lys57Arg					AHI1_uc003qgh.2_Missense_Mutation_p.K57R|AHI1_uc003qgj.2_Missense_Mutation_p.K57R|AHI1_uc003qgk.3_RNA|AHI1_uc003qgl.3_Missense_Mutation_p.K57R	p.K57R	NM_001134831	NP_001128303	Q8N157	AHI1_HUMAN		GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)	6	554	-	Breast(56;0.239)|Colorectal(23;0.24)		57					E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Missense_Mutation	SNP	ENST00000367800.4	37	c.170A>G	CCDS47483.1	.	.	.	.	.	.	.	.	.	.	T	0.127	-1.118548	0.01785	.	.	ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000265602;ENST00000327035;ENST00000367801	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	1.48	-1.4	0.08968	.	14.698500	0.00550	U	0.000243	T	0.11623	0.0283	L	0.29908	0.895	0.09310	N	1	B;B	0.15473	0.006;0.013	B;B	0.11329	0.006;0.004	T	0.19321	-1.0309	10	0.59425	D	0.04	.	2.3031	0.04167	0.0:0.2118:0.3093:0.4789	.	57;57	Q8N157-2;Q8N157	.;AHI1_HUMAN	R	57	ENSP00000356774:K57R;ENSP00000388650:K57R;ENSP00000265602:K57R;ENSP00000322478:K57R	ENSP00000265602:K57R	K	-	2	0	AHI1	135830431	0.659000	0.27411	0.001000	0.08648	0.040000	0.13550	0.462000	0.21956	-0.389000	0.07786	0.254000	0.18369	AAA		0.343	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651		11	39	0	0	0	0	11	39				
BCLAF1	9774	broad.mit.edu	37	6	136596736	136596736	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:136596736G>T	ENST00000531224.1	-	6	2038	c.1786C>A	c.(1786-1788)Cag>Aag	p.Q596K	BCLAF1_ENST00000530767.1_Missense_Mutation_p.Q423K|BCLAF1_ENST00000353331.4_Missense_Mutation_p.Q594K|BCLAF1_ENST00000527536.1_Missense_Mutation_p.Q596K|BCLAF1_ENST00000392348.2_Missense_Mutation_p.Q594K|BCLAF1_ENST00000527759.1_Missense_Mutation_p.Q594K	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	596					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TTGCTGGCCTGTGGCAACTTA	0.398																																					Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1		NA																	0				ovary(1)	1						c.(1786-1788)CAG>AAG		BCL2-associated transcription factor 1 isoform							209.0	190.0	196.0					6																	136596736		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136596736G>T	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1786C>A	6.37:g.136596736G>T	ENSP00000435210:p.Gln596Lys					BCLAF1_uc003qgw.1_Missense_Mutation_p.Q423K|BCLAF1_uc003qgy.1_Missense_Mutation_p.Q594K|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.Q594K	p.Q596K	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	6	2039	-	Colorectal(23;0.24)		596					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.1786C>A	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.011902	0.75046	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.18502	2.21;2.21;2.21;2.21;2.21;2.21;2.21	5.62	5.62	0.85841	.	0.203527	0.34777	N	0.003700	T	0.26484	0.0647	L	0.55103	1.725	0.80722	D	1	P;D;P;B	0.55385	0.947;0.971;0.947;0.397	D;P;D;B	0.65684	0.937;0.85;0.937;0.133	T	0.00376	-1.1779	10	0.87932	D	0	-7.088	13.2588	0.60093	0.0727:0.0:0.9273:0.0	.	594;594;596;423	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	K	596;594;596;423;594;594;596	ENSP00000435210:Q596K;ENSP00000229446:Q594K;ENSP00000435441:Q596K;ENSP00000436501:Q423K;ENSP00000434826:Q594K;ENSP00000376159:Q594K;ENSP00000431734:Q596K	ENSP00000229446:Q594K	Q	-	1	0	BCLAF1	136638429	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.651000	0.74372	2.809000	0.96659	0.467000	0.42956	CAG		0.398	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		19	289	1	0	7.42e-09	9.12e-09	19	289				
SHPRH	257218	broad.mit.edu	37	6	146244822	146244822	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:146244822T>A	ENST00000367505.2	-	18	3766	c.3502A>T	c.(3502-3504)Agc>Tgc	p.S1168C	SHPRH_ENST00000438092.2_Missense_Mutation_p.S1177C|SHPRH_ENST00000367503.3_Missense_Mutation_p.S1177C|SHPRH_ENST00000275233.7_Missense_Mutation_p.S1168C			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1168					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TTGTAGTTGCTGGTTATTTCA	0.358																																						uc003qlf.2		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(3502-3504)AGC>TGC		SNF2 histone linker PHD RING helicase isoform a							172.0	153.0	159.0					6																	146244822		1837	4093	5930	SO:0001583	missense	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146244822T>A	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.3502A>T	6.37:g.146244822T>A	ENSP00000356475:p.Ser1168Cys					SHPRH_uc003qld.2_Missense_Mutation_p.S1177C|SHPRH_uc003qle.2_Missense_Mutation_p.S1177C|SHPRH_uc003qlg.1_Missense_Mutation_p.S724C|SHPRH_uc003qlh.2_Missense_Mutation_p.S93C|SHPRH_uc003qli.1_Missense_Mutation_p.S93C	p.S1168C	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	18	3901	-		Ovarian(120;0.0365)	1168					Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	c.3502A>T	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	T	13.35	2.211540	0.39102	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233	T;T;T;T	0.74842	-0.87;-0.88;-0.88;-0.87	5.1	2.48	0.30137	.	0.271289	0.35235	N	0.003352	T	0.44052	0.1275	L	0.33485	1.01	0.32082	N	0.593019	B;B;B	0.13145	0.0;0.004;0.007	B;B;B	0.12156	0.001;0.003;0.007	T	0.30966	-0.9960	10	0.41790	T	0.15	-8.9994	10.2072	0.43120	0.3868:0.0:0.0:0.6132	.	367;1168;1177	B3KX98;Q149N8;Q149N8-4	.;SHPRH_HUMAN;.	C	1168;1177;1177;1168	ENSP00000356475:S1168C;ENSP00000356473:S1177C;ENSP00000412797:S1177C;ENSP00000275233:S1168C	ENSP00000275233:S1168C	S	-	1	0	SHPRH	146286515	0.621000	0.27077	1.000000	0.80357	0.996000	0.88848	0.249000	0.18216	0.739000	0.32628	0.482000	0.46254	AGC		0.358	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		65	114	0	0	0	0	65	114				
RAB32	10981	broad.mit.edu	37	6	146865142	146865142	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:146865142C>G	ENST00000367495.3	+	1	314	c.135C>G	c.(133-135)taC>taG	p.Y45*		NM_006834.3	NP_006825.1	Q13637	RAB32_HUMAN	RAB32, member RAS oncogene family	45					antigen processing and presentation (GO:0019882)|endosome to melanosome transport (GO:0035646)|GTP catabolic process (GO:0006184)|melanosome organization (GO:0032438)|phagosome maturation (GO:0090382)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	early endosome (GO:0005769)|melanosome (GO:0042470)|membrane (GO:0016020)|mitochondrion (GO:0005739)|phagocytic vesicle (GO:0045335)	AP-1 adaptor complex binding (GO:0035650)|AP-3 adaptor complex binding (GO:0035651)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	8		Ovarian(120;0.142)		OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608)		TCAAGCGCTACGTCCACCAGC	0.672																																						uc003qln.1		NA																	0					0						c.(133-135)TAC>TAG		RAB32, member RAS oncogene family							68.0	57.0	61.0					6																	146865142		2203	4300	6503	SO:0001587	stop_gained	10981				protein transport|small GTPase mediated signal transduction	mitochondrion	GTP binding	g.chr6:146865142C>G	U71127	CCDS5210.1	6q24.2	2010-08-20			ENSG00000118508	ENSG00000118508		"""RAB, member RAS oncogene"", ""A-kinase anchor proteins"""	9772	protein-coding gene	gene with protein product		612906					Standard	NM_006834		Approved		uc003qln.1	Q13637	OTTHUMG00000015755	ENST00000367495.3:c.135C>G	6.37:g.146865142C>G	ENSP00000356465:p.Tyr45*						p.Y45*	NM_006834	NP_006825	Q13637	RAB32_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608)	1	315	+		Ovarian(120;0.142)	45						Nonsense_Mutation	SNP	ENST00000367495.3	37	c.135C>G	CCDS5210.1	.	.	.	.	.	.	.	.	.	.	C	37	6.437755	0.97568	.	.	ENSG00000118508	ENST00000367495	.	.	.	4.7	-4.47	0.03525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.8195	12.692	0.56980	0.0:0.4839:0.0:0.5161	.	.	.	.	X	45	.	ENSP00000356465:Y45X	Y	+	3	2	RAB32	146906835	0.192000	0.23301	0.939000	0.37840	0.941000	0.58515	-0.369000	0.07533	-0.935000	0.03728	-0.355000	0.07637	TAC		0.672	RAB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042579.1	NM_006834		17	75	0	0	0	0	17	75				
SYNE1	23345	broad.mit.edu	37	6	152640010	152640010	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:152640010T>A	ENST00000367255.5	-	85	16978	c.16377A>T	c.(16375-16377)aaA>aaT	p.K5459N	SYNE1_ENST00000265368.4_Missense_Mutation_p.K5459N|SYNE1_ENST00000356820.4_5'Flank|SYNE1_ENST00000448038.1_Missense_Mutation_p.K5388N|SYNE1_ENST00000341594.5_Missense_Mutation_p.K5132N|SYNE1_ENST00000423061.1_Missense_Mutation_p.K5388N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5459					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTTGGTCAGTTTTAGCTTGAA	0.363										HNSCC(10;0.0054)																												uc010kiw.2		NA																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(16375-16377)AAA>AAT		spectrin repeat containing, nuclear envelope 1							117.0	110.0	113.0					6																	152640010		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152640010T>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.16377A>T	6.37:g.152640010T>A	ENSP00000356224:p.Lys5459Asn	HNSCC(10;0.0054)				SYNE1_uc010kiv.2_5'Flank|SYNE1_uc003qos.3_5'Flank|SYNE1_uc003qot.3_Missense_Mutation_p.K5388N|SYNE1_uc003qou.3_Missense_Mutation_p.K5459N|SYNE1_uc010kiz.2_Missense_Mutation_p.K1214N	p.K5459N	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	85	16979	-		Ovarian(120;0.0955)	5459			Potential.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.16377A>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	14.24	2.477037	0.44044	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.61040	0.24;0.19;0.14;0.19;0.33	5.23	2.83	0.33086	.	0.206102	0.33591	N	0.004743	T	0.49321	0.1550	M	0.66939	2.045	0.80722	D	1	D;P;P;P	0.56287	0.975;0.912;0.912;0.947	P;B;B;P	0.53689	0.732;0.334;0.334;0.659	T	0.46442	-0.9191	10	0.32370	T	0.25	.	8.954	0.35807	0.0:0.1548:0.0:0.8452	.	5459;5459;5459;5388	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	N	5459;5388;5459;5388;5132	ENSP00000356224:K5459N;ENSP00000396024:K5388N;ENSP00000265368:K5459N;ENSP00000390975:K5388N;ENSP00000341887:K5132N	ENSP00000265368:K5459N	K	-	3	2	SYNE1	152681703	0.996000	0.38824	0.278000	0.24718	0.901000	0.52897	2.892000	0.48625	0.309000	0.22966	0.482000	0.46254	AAA		0.363	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		10	50	0	0	0	0	10	50				
SYNE1	23345	broad.mit.edu	37	6	152702445	152702445	+	Missense_Mutation	SNP	G	G	C	rs576979843		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:152702445G>C	ENST00000367255.5	-	56	9306	c.8705C>G	c.(8704-8706)tCg>tGg	p.S2902W	SYNE1_ENST00000265368.4_Missense_Mutation_p.S2902W|SYNE1_ENST00000448038.1_Missense_Mutation_p.S2909W|SYNE1_ENST00000341594.5_Missense_Mutation_p.S2941W|SYNE1_ENST00000423061.1_Missense_Mutation_p.S2909W|SYNE1-AS1_ENST00000412161.1_RNA	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2902					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGGAGCCAGCGACTCCACTCT	0.542										HNSCC(10;0.0054)																												uc010kiw.2		NA																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(8704-8706)TCG>TGG		spectrin repeat containing, nuclear envelope 1							121.0	121.0	121.0					6																	152702445		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152702445G>C	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.8705C>G	6.37:g.152702445G>C	ENSP00000356224:p.Ser2902Trp	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.S2909W|SYNE1_uc003qou.3_Missense_Mutation_p.S2902W|SYNE1_uc010kja.1_5'UTR|SYNE1_uc003qov.2_5'UTR|SYNE1_uc010kjb.1_Missense_Mutation_p.S2885W	p.S2902W	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	56	9307	-		Ovarian(120;0.0955)	2902			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.8705C>G	CCDS5236.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.06|18.06	3.538475|3.538475	0.65085|0.65085	.|.	.|.	ENSG00000131018|ENSG00000131018	ENST00000454018|ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	.|T;T;T;T;T	.|0.56611	.|0.55;0.55;0.45;0.55;0.64	6.01|6.01	-0.901|-0.901	0.10540|0.10540	.|.	.|0.659654	.|0.13983	.|N	.|0.349372	T|T	0.37100|0.37100	0.0991|0.0991	L|L	0.40543|0.40543	1.245|1.245	0.18873|0.18873	N|N	0.999989|0.999989	.|B;D;D;D	.|0.61697	.|0.004;0.983;0.983;0.99	.|B;P;P;P	.|0.56865	.|0.008;0.523;0.523;0.808	T|T	0.24190|0.24190	-1.0167|-1.0167	5|10	.|0.72032	.|D	.|0.01	.|.	8.2418|8.2418	0.31665|0.31665	0.2486:0.1994:0.552:0.0|0.2486:0.1994:0.552:0.0	.|.	.|2885;2902;2902;2909	.|B3W695;Q8NF91;E7EQI5;Q8NF91-4	.|.;SYNE1_HUMAN;.;.	G|W	19|2902;2909;2902;2909;2941	.|ENSP00000356224:S2902W;ENSP00000396024:S2909W;ENSP00000265368:S2902W;ENSP00000390975:S2909W;ENSP00000341887:S2941W	.|ENSP00000265368:S2902W	R|S	-|-	1|2	0|0	SYNE1|SYNE1	152744138|152744138	0.011000|0.011000	0.17503|0.17503	0.682000|0.682000	0.30024|0.30024	0.998000|0.998000	0.95712|0.95712	0.516000|0.516000	0.22817|0.22817	-0.093000|-0.093000	0.12396|0.12396	0.650000|0.650000	0.86243|0.86243	CGC|TCG		0.542	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		40	245	0	0	0	0	40	245				
TIAM2	26230	broad.mit.edu	37	6	155578189	155578189	+	Silent	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:155578189C>G	ENST00000461783.3	+	29	6313	c.5040C>G	c.(5038-5040)gtC>gtG	p.V1680V	TIAM2_ENST00000529824.2_Silent_p.V1709V|TIAM2_ENST00000528391.2_Silent_p.V1024V|TIAM2_ENST00000360366.4_Silent_p.V1704V|RP11-477D19.2_ENST00000435295.1_RNA|TIAM2_ENST00000456877.2_Silent_p.V992V|TIAM2_ENST00000318981.5_Silent_p.V1680V|TIAM2_ENST00000275246.7_Silent_p.V605V|TIAM2_ENST00000367174.2_Silent_p.V1056V|TIAM2_ENST00000456144.1_Silent_p.V1709V			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1680					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AATTCAGTGTCCAGAGTTTAA	0.428																																						uc003qqb.2		NA																	0				ovary(3)|breast(1)	4						c.(5038-5040)GTC>GTG		T-cell lymphoma invasion and metastasis 2							76.0	75.0	75.0					6																	155578189		2203	4300	6503	SO:0001819	synonymous_variant	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155578189C>G		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.5040C>G	6.37:g.155578189C>G						TIAM2_uc003qqe.2_Silent_p.V1680V|TIAM2_uc010kjj.2_Silent_p.V1242V|TIAM2_uc003qqf.2_Silent_p.V1056V|TIAM2_uc011efl.1_Silent_p.V1024V|TIAM2_uc003qqg.2_Silent_p.V992V|TIAM2_uc003qqh.2_Silent_p.V605V|uc003qqi.1_5'Flank	p.V1680V	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	29	6313	+		Ovarian(120;0.196)	1680					B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Silent	SNP	ENST00000461783.3	37	c.5040C>G	CCDS34558.1																																																																																				0.428	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		15	75	0	0	0	0	15	75				
NOX3	50508	broad.mit.edu	37	6	155743931	155743931	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:155743931C>T	ENST00000159060.2	-	10	1307	c.1205G>A	c.(1204-1206)tGt>tAt	p.C402Y		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	402					detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		AACGCACACACACACTGGGTA	0.532																																						uc003qqm.2		NA																	0				ovary(1)	1						c.(1204-1206)TGT>TAT		NADPH oxidase 3							129.0	127.0	128.0					6																	155743931		2203	4300	6503	SO:0001583	missense	50508						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr6:155743931C>T	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.1205G>A	6.37:g.155743931C>T	ENSP00000159060:p.Cys402Tyr						p.C402Y	NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)	10	1308	-		Breast(66;0.0183)	402			Helical; (Potential).		Q9HBJ9	Missense_Mutation	SNP	ENST00000159060.2	37	c.1205G>A	CCDS5250.1	.	.	.	.	.	.	.	.	.	.	C	8.013	0.758011	0.15846	.	.	ENSG00000074771	ENST00000159060	D	0.94862	-3.54	5.81	5.81	0.92471	Ferric reductase, NAD binding (1);	0.128511	0.56097	D	0.000035	D	0.84293	0.5440	N	0.14661	0.345	0.20196	N	0.999928	B	0.24576	0.106	B	0.25405	0.06	T	0.78373	-0.2229	10	0.72032	D	0.01	-10.7383	15.5451	0.76093	0.0:0.8626:0.1374:0.0	.	402	Q9HBY0	NOX3_HUMAN	Y	402	ENSP00000159060:C402Y	ENSP00000159060:C402Y	C	-	2	0	NOX3	155785623	0.000000	0.05858	0.982000	0.44146	0.056000	0.15407	0.987000	0.29603	2.747000	0.94245	0.643000	0.83706	TGT		0.532	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1			33	196	0	0	0	0	33	196				
IGF2R	3482	broad.mit.edu	37	6	160511018	160511018	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:160511018A>G	ENST00000356956.1	+	44	6686	c.6538A>G	c.(6538-6540)Atc>Gtc	p.I2180V		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	2180					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	ACTTTCCTCCATCACAAGCTC	0.512																																						uc003qta.2		NA																	0				ovary(3)	3						c.(6538-6540)ATC>GTC		insulin-like growth factor 2 receptor precursor							139.0	122.0	128.0					6																	160511018		2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160511018A>G	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.6538A>G	6.37:g.160511018A>G	ENSP00000349437:p.Ile2180Val						p.I2180V	NM_000876	NP_000867	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	44	6686	+		Breast(66;0.000777)|Ovarian(120;0.0305)	2180			15.|Lumenal (Potential).		Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.6538A>G	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	A	15.68	2.905598	0.52333	.	.	ENSG00000197081	ENST00000356956	T	0.03772	3.81	5.52	3.06	0.35304	Mannose-6-phosphate receptor, binding (1);	0.217742	0.46442	D	0.000294	T	0.02304	0.0071	M	0.62723	1.935	0.36034	D	0.839628	P	0.38617	0.64	B	0.37550	0.253	T	0.46386	-0.9195	10	0.13853	T	0.58	-29.837	12.418	0.55504	0.7117:0.2883:0.0:0.0	.	2180	P11717	MPRI_HUMAN	V	2180	ENSP00000349437:I2180V	ENSP00000349437:I2180V	I	+	1	0	IGF2R	160431008	1.000000	0.71417	0.162000	0.22713	0.880000	0.50808	4.458000	0.60095	0.437000	0.26423	0.454000	0.30748	ATC		0.512	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		61	92	0	0	0	0	61	92				
PDE10A	10846	broad.mit.edu	37	6	165749685	165749685	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:165749685C>G	ENST00000366882.1	-	22	2318	c.2164G>C	c.(2164-2166)Gcc>Ccc	p.A722P	PDE10A_ENST00000354448.4_Missense_Mutation_p.A722P|PDE10A_ENST00000539869.2_Missense_Mutation_p.A732P			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	722					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)	ATGGCCACGGCATTGTAGAAC	0.453																																					Esophageal Squamous(22;308 615 5753 12038 40624)	uc003qun.2		NA																	0				ovary(3)|skin(2)	5						c.(2164-2166)GCC>CCC		phosphodiesterase 10A isoform 2	Dipyridamole(DB00975)						77.0	72.0	74.0					6																	165749685		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.chr6:165749685C>G	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.2164G>C	6.37:g.165749685C>G	ENSP00000355847:p.Ala722Pro					PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.A652P|PDE10A_uc003quo.2_Missense_Mutation_p.A732P	p.A722P	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)	22	2405	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	722					Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37	c.2164G>C		.	.	.	.	.	.	.	.	.	.	C	18.10	3.547471	0.65311	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.77098	-1.07;-1.07	5.4	5.4	0.78164	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.094278	0.64402	D	0.000001	T	0.79986	0.4541	L	0.55990	1.75	0.58432	D	0.999999	D;P	0.62365	0.991;0.861	P;B	0.58331	0.837;0.4	T	0.75534	-0.3284	10	0.28530	T	0.3	.	19.5373	0.95257	0.0:1.0:0.0:0.0	.	732;722	Q9ULW9;Q9Y233	.;PDE10_HUMAN	P	722;750;732;722;721	ENSP00000355847:A722P;ENSP00000346435:A722P	ENSP00000341187:A732P	A	-	1	0	PDE10A	165669675	1.000000	0.71417	0.621000	0.29145	0.919000	0.55068	3.364000	0.52328	2.681000	0.91329	0.655000	0.94253	GCC		0.453	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			9	57	0	0	0	0	9	57				
TCP10L2	401285	broad.mit.edu	37	6	167585706	167585706	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:167585706G>T	ENST00000366832.2	+	2	205	c.74G>T	c.(73-75)gGg>gTg	p.G25V		NM_001145121.1	NP_001138593.1	B9ZVM9	TCP2L_HUMAN	t-complex 10-like 2	25										endometrium(1)|kidney(2)|lung(3)	6						CCGGGAGCTGGGGCTGCCATG	0.652																																						uc010kkp.2		NA																	0					0						c.(73-75)GGG>GTG		t-complex 10-like 2							29.0	43.0	39.0					6																	167585706		692	1591	2283	SO:0001583	missense	401285							g.chr6:167585706G>T		CCDS47514.1	6q27	2012-09-20	2012-09-20		ENSG00000166984	ENSG00000166984			21254	protein-coding gene	gene with protein product			"""t-complex 10-like 2 (mouse)"""				Standard	NM_001145121		Approved	bA517H2.3	uc010kkp.3	B9ZVM9	OTTHUMG00000016014	ENST00000366832.2:c.74G>T	6.37:g.167585706G>T	ENSP00000355797:p.Gly25Val						p.G25V	NM_001145121	NP_001138593	B9ZVM9	B9ZVM9_HUMAN			2	205	+			25						Missense_Mutation	SNP	ENST00000366832.2	37	c.74G>T	CCDS47514.1	.	.	.	.	.	.	.	.	.	.	g	12.08	1.829283	0.32329	.	.	ENSG00000166984	ENST00000486697;ENST00000366832	T	0.21031	2.03	2.61	0.716	0.18191	.	.	.	.	.	T	0.19525	0.0469	M	0.61703	1.905	0.09310	N	0.999999	D	0.71674	0.998	D	0.64237	0.923	T	0.04454	-1.0950	9	0.66056	D	0.02	.	4.2824	0.10839	0.3588:0.0:0.6412:0.0	.	25	B9ZVM9	TCP2L_HUMAN	V	25	ENSP00000355797:G25V	ENSP00000283507:G25V	G	+	2	0	TCP10L2	167505696	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.202000	0.09451	0.421000	0.25980	-0.481000	0.04817	GGG		0.652	TCP10L2-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043112.5	XR_040749		13	24	1	0	1.03e-11	1.33e-11	13	24				
C6orf120	387263	broad.mit.edu	37	6	170102735	170102735	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:170102735C>A	ENST00000332290.2	+	1	479	c.180C>A	c.(178-180)aaC>aaA	p.N60K	WDR27_ENST00000448612.1_5'Flank|C6orf120_ENST00000439249.1_Missense_Mutation_p.N79K|WDR27_ENST00000333572.6_5'Flank|WDR27_ENST00000420344.2_5'Flank|WDR27_ENST00000423258.1_5'Flank	NM_001029863.1	NP_001025034.1	Q7Z4R8	CF120_HUMAN	chromosome 6 open reading frame 120	60					apoptotic process (GO:0006915)	extracellular vesicular exosome (GO:0070062)				endometrium(1)|lung(2)	3		Breast(66;0.000338)		OV - Ovarian serous cystadenocarcinoma(33;9.65e-22)|BRCA - Breast invasive adenocarcinoma(81;1.29e-07)|GBM - Glioblastoma multiforme(31;0.0015)		TGCGGCTGAACCACGAGGGCA	0.647																																						uc003qxb.2		NA																	0					0						c.(178-180)AAC>AAA		hypothetical protein LOC387263 precursor							49.0	44.0	46.0					6																	170102735		2203	4300	6503	SO:0001583	missense	387263					extracellular region		g.chr6:170102735C>A	AF055030	CCDS34575.1	6q27	2012-06-21			ENSG00000185127	ENSG00000185127			21247	protein-coding gene	gene with protein product						8619474, 9110174, 22340178	Standard	NM_001029863		Approved	bA160E12.4	uc003qxb.3	Q7Z4R8	OTTHUMG00000016057	ENST00000332290.2:c.180C>A	6.37:g.170102735C>A	ENSP00000346931:p.Asn60Lys					WDR27_uc010kkw.1_5'Flank|WDR27_uc003qwx.2_5'Flank|WDR27_uc003qwy.2_5'Flank|WDR27_uc011egw.1_5'Flank|WDR27_uc010kkx.2_5'Flank|C6orf120_uc011egx.1_Missense_Mutation_p.N79K	p.N60K	NM_001029863	NP_001025034	Q7Z4R8	CF120_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;9.65e-22)|BRCA - Breast invasive adenocarcinoma(81;1.29e-07)|GBM - Glioblastoma multiforme(31;0.0015)	1	479	+		Breast(66;0.000338)	60					B4DHE9|E1P5C9	Missense_Mutation	SNP	ENST00000332290.2	37	c.180C>A	CCDS34575.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.760439	0.49468	.	.	ENSG00000185127	ENST00000439249;ENST00000332290	.	.	.	5.05	-1.28	0.09318	.	0.058895	0.64402	U	0.000004	T	0.52629	0.1746	M	0.77820	2.39	0.42261	D	0.992018	D;D	0.56521	0.976;0.976	P;P	0.59171	0.853;0.853	T	0.54728	-0.8250	9	0.46703	T	0.11	-33.0357	4.9148	0.13840	0.1432:0.3616:0.0:0.4952	.	79;60	B4DJ79;Q7Z4R8	.;CF120_HUMAN	K	79;60	.	ENSP00000346931:N60K	N	+	3	2	C6orf120	169844660	0.998000	0.40836	0.246000	0.24233	0.025000	0.11179	0.576000	0.23744	-0.090000	0.12462	-0.367000	0.07326	AAC		0.647	C6orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043214.1	NM_001029863		36	60	1	0	8.74e-17	1.19e-16	36	60				
EIF2AK1	27102	broad.mit.edu	37	7	6066485	6066485	+	Silent	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:6066485C>A	ENST00000199389.6	-	14	1784	c.1638G>T	c.(1636-1638)ccG>ccT	p.P546P	EIF2AK1_ENST00000536084.1_Silent_p.P422P	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	546	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of hemoglobin biosynthetic process (GO:0046986)|negative regulation of translational initiation by iron (GO:0045993)|protein autophosphorylation (GO:0046777)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|response to external stimulus (GO:0009605)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		GGAGGGATTCCGGCAACTGAC	0.498																																						uc003spp.2		NA																	0				upper_aerodigestive_tract(1)|stomach(1)|lung(1)|central_nervous_system(1)	4						c.(1636-1638)CCG>CCT		eukaryotic translation initiation factor 2-alpha							134.0	124.0	127.0					7																	6066485		2203	4300	6503	SO:0001819	synonymous_variant	27102				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity	g.chr7:6066485C>A	BC006524	CCDS5345.1	7p22	2005-01-20			ENSG00000086232	ENSG00000086232			24921	protein-coding gene	gene with protein product	"""heme regulated initiation factor 2 alpha kinase"""	613635				7709427, 10718198	Standard	NM_014413		Approved	HRI, KIAA1369	uc003spp.3	Q9BQI3	OTTHUMG00000090689	ENST00000199389.6:c.1638G>T	7.37:g.6066485C>A						EIF2AK1_uc003spq.2_Silent_p.P545P|EIF2AK1_uc011jwm.1_Silent_p.P422P	p.P546P	NM_014413	NP_055228	Q9BQI3	E2AK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)	14	1784	-		Ovarian(82;0.0423)	546			Protein kinase.		A8K2R2|Q549K6|Q8NBW3|Q9HC02|Q9NYE0|Q9P0V6|Q9P1J5|Q9P2H8|Q9UHG4	Silent	SNP	ENST00000199389.6	37	c.1638G>T	CCDS5345.1																																																																																				0.498	EIF2AK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207373.2	NM_014413		66	122	1	0	2.19e-23	3.14e-23	66	122				
COL28A1	340267	broad.mit.edu	37	7	7400084	7400084	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:7400084T>G	ENST00000399429.3	-	34	3282	c.3142A>C	c.(3142-3144)Acc>Ccc	p.T1048P		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	1048					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TCAGATGAGGTAGTGGCAGGC	0.517																																						uc003src.1		NA																	0				skin(3)	3						c.(3142-3144)ACC>CCC		collagen, type XXVIII precursor							87.0	103.0	98.0					7																	7400084		2037	4179	6216	SO:0001583	missense	340267				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	g.chr7:7400084T>G	AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"""Collagens"""	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.3142A>C	7.37:g.7400084T>G	ENSP00000382356:p.Thr1048Pro					COL28A1_uc011jxe.1_Missense_Mutation_p.T731P	p.T1048P	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)	34	3259	-		Ovarian(82;0.0789)	1048					A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Missense_Mutation	SNP	ENST00000399429.3	37	c.3142A>C	CCDS43553.1	.	.	.	.	.	.	.	.	.	.	T	7.122	0.578230	0.13686	.	.	ENSG00000215018	ENST00000453441;ENST00000399429	T;D	0.89746	-0.16;-2.56	3.93	-6.47	0.01902	.	1.683470	0.04706	N	0.416738	T	0.69124	0.3076	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.58381	-0.7646	10	0.26408	T	0.33	.	1.4045	0.02278	0.3072:0.0963:0.3695:0.227	.	1048	Q2UY09	COSA1_HUMAN	P	3;1048	ENSP00000391380:T3P;ENSP00000382356:T1048P	ENSP00000382356:T1048P	T	-	1	0	COL28A1	7366609	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.128000	0.10531	-1.359000	0.02174	-0.313000	0.08912	ACC		0.517	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763		50	79	0	0	0	0	50	79				
HDAC9	9734	broad.mit.edu	37	7	18975437	18975437	+	Missense_Mutation	SNP	G	G	T	rs78483718		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:18975437G>T	ENST00000432645.2	+	22	2800	c.2800G>T	c.(2800-2802)Ggt>Tgt	p.G934C	HDAC9_ENST00000401921.1_Missense_Mutation_p.G893C|HDAC9_ENST00000406451.4_Missense_Mutation_p.G934C|HDAC9_ENST00000441542.2_Missense_Mutation_p.G937C	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	934	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GGTAGGTTTTGGTCATTTGAC	0.383																																						uc003suh.2		NA																	0				lung(2)|central_nervous_system(2)|kidney(1)	5						c.(2800-2802)GGT>TGT		histone deacetylase 9 isoform 1	Valproic Acid(DB00313)						197.0	193.0	194.0					7																	18975437		1933	4145	6078	SO:0001583	missense	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18975437G>T	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.2800G>T	7.37:g.18975437G>T	ENSP00000410337:p.Gly934Cys					HDAC9_uc003sue.2_Missense_Mutation_p.G934C|HDAC9_uc003sui.2_Missense_Mutation_p.G937C|HDAC9_uc003suj.2_Missense_Mutation_p.G893C|HDAC9_uc003suk.2_Missense_Mutation_p.G182C	p.G934C	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN			22	2841	+	all_lung(11;0.187)		934			Histone deacetylase.		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	c.2800G>T	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	G	19.98	3.927060	0.73327	.	.	ENSG00000048052	ENST00000406451;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000341009	T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55	5.81	5.81	0.92471	Histone deacetylase domain (2);	0.000000	0.64402	D	0.000006	D	0.87916	0.6298	H	0.94620	3.56	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.986;0.986;0.992;0.986	D	0.90387	0.4392	10	0.87932	D	0	-18.1045	13.2911	0.60272	0.0722:0.0:0.9278:0.0	.	182;893;937;934;934	Q8N926;Q9UKV0-6;Q9UKV0-7;Q9UKV0;Q9UKV0-5	.;.;.;HDAC9_HUMAN;.	C	934;893;934;937;846	ENSP00000384657:G934C;ENSP00000383912:G893C;ENSP00000410337:G934C;ENSP00000408617:G937C	ENSP00000339165:G846C	G	+	1	0	HDAC9	18941962	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.754000	0.74909	2.739000	0.93911	0.563000	0.77884	GGT		0.383	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			86	155	1	0	3.01e-42	4.58e-42	86	155				
MACC1	346389	broad.mit.edu	37	7	20198323	20198323	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:20198323C>A	ENST00000400331.5	-	5	1969	c.1661G>T	c.(1660-1662)gGg>gTg	p.G554V	MACC1_ENST00000589011.1_Missense_Mutation_p.G554V|MACC1_ENST00000332878.4_Missense_Mutation_p.G554V	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	554	SH3.				positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						CAGGGTTACCCCATAGTTGCT	0.378																																						uc003sus.3		NA																	0				ovary(2)|skin(1)	3						c.(1660-1662)GGG>GTG		putative binding protein 7a5							97.0	103.0	101.0					7																	20198323		2203	4300	6503	SO:0001583	missense	346389				positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity	g.chr7:20198323C>A		CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.1661G>T	7.37:g.20198323C>A	ENSP00000383185:p.Gly554Val					MACC1_uc010kug.2_Missense_Mutation_p.G554V	p.G554V	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN			5	1970	-			554			SH3.		A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Missense_Mutation	SNP	ENST00000400331.5	37	c.1661G>T	CCDS5369.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.533095	0.27387	.	.	ENSG00000183742	ENST00000400331;ENST00000332878	T;T	0.06768	3.26;3.26	5.81	3.85	0.44370	Src homology-3 domain (1);Variant SH3 (1);	0.147781	0.64402	D	0.000010	T	0.26738	0.0654	M	0.71581	2.175	0.80722	D	1	D	0.69078	0.997	D	0.67103	0.949	T	0.05716	-1.0868	10	0.87932	D	0	-6.7764	15.4429	0.75200	0.0:0.6096:0.3904:0.0	.	554	Q6ZN28	MACC1_HUMAN	V	554	ENSP00000383185:G554V;ENSP00000328410:G554V	ENSP00000328410:G554V	G	-	2	0	MACC1	20164848	0.995000	0.38212	0.892000	0.35008	0.353000	0.29299	3.177000	0.50871	1.398000	0.46701	0.655000	0.94253	GGG		0.378	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250202.5	NM_182762		38	248	1	0	6.34e-27	9.21e-27	38	248				
AMPH	273	broad.mit.edu	37	7	38431464	38431464	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:38431464T>A	ENST00000356264.2	-	19	1978	c.1763A>T	c.(1762-1764)cAg>cTg	p.Q588L	AMPH_ENST00000471913.1_5'Flank|AMPH_ENST00000428293.2_Missense_Mutation_p.Q546L|AMPH_ENST00000325590.5_Missense_Mutation_p.Q546L	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	588					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						GATAGGCTTCTGCTCCGTAGC	0.622																																						uc003tgu.2		NA																	0				ovary(3)|liver(1)|skin(1)	5						c.(1762-1764)CAG>CTG		amphiphysin isoform 1							55.0	50.0	52.0					7																	38431464		2203	4300	6503	SO:0001583	missense	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38431464T>A		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.1763A>T	7.37:g.38431464T>A	ENSP00000348602:p.Gln588Leu					AMPH_uc003tgv.2_Missense_Mutation_p.Q546L|AMPH_uc003tgt.2_Missense_Mutation_p.Q473L|AMPH_uc003tgw.1_Missense_Mutation_p.Q611L|AMPH_uc010kxl.1_RNA	p.Q588L	NM_001635	NP_001626	P49418	AMPH_HUMAN			19	1832	-			588					A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	ENST00000356264.2	37	c.1763A>T	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	T	10.12	1.262560	0.23051	.	.	ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000353242	T;T;T	0.61040	0.15;0.18;0.14	5.63	0.479	0.16796	.	0.836427	0.10741	N	0.639489	T	0.39655	0.1086	L	0.27053	0.805	0.21064	N	0.999795	B;B;B	0.32160	0.078;0.124;0.358	B;B;B	0.28709	0.036;0.022;0.093	T	0.11966	-1.0566	10	0.29301	T	0.29	-1.0805	8.9888	0.36010	0.0:0.1238:0.4448:0.4314	.	546;588;476	P49418-2;P49418;Q8NFL4	.;AMPH_HUMAN;.	L	546;588;546;490	ENSP00000317441:Q546L;ENSP00000348602:Q588L;ENSP00000390734:Q546L	ENSP00000317441:Q546L	Q	-	2	0	AMPH	38397989	0.996000	0.38824	0.009000	0.14445	0.027000	0.11550	0.459000	0.21908	-0.439000	0.07222	-1.795000	0.00624	CAG		0.622	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635		24	30	0	0	0	0	24	30				
AMPH	273	broad.mit.edu	37	7	38530704	38530704	+	Silent	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:38530704C>G	ENST00000356264.2	-	5	557	c.342G>C	c.(340-342)gtG>gtC	p.V114V	AMPH_ENST00000428293.2_Silent_p.V114V|AMPH_ENST00000325590.5_Silent_p.V114V	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	114	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						AGGACCCATCCACGAGTTTTT	0.403																																						uc003tgu.2		NA																	0				ovary(3)|liver(1)|skin(1)	5						c.(340-342)GTG>GTC		amphiphysin isoform 1							167.0	163.0	165.0					7																	38530704		2203	4300	6503	SO:0001819	synonymous_variant	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38530704C>G		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.342G>C	7.37:g.38530704C>G						AMPH_uc003tgv.2_Silent_p.V114V	p.V114V	NM_001635	NP_001626	P49418	AMPH_HUMAN			5	411	-			114			BAR.		A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Silent	SNP	ENST00000356264.2	37	c.342G>C	CCDS5456.1																																																																																				0.403	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635		140	211	0	0	0	0	140	211				
GCK	2645	broad.mit.edu	37	7	44184836	44184836	+	Missense_Mutation	SNP	T	T	A	rs193922274		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:44184836T>A	ENST00000403799.3	-	10	1766	c.1297A>T	c.(1297-1299)Agc>Tgc	p.S433C	GCK_ENST00000395796.3_Missense_Mutation_p.S432C|GCK_ENST00000437084.1_Missense_Mutation_p.S416C|GCK_ENST00000345378.2_Missense_Mutation_p.S434C	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	433	Hexokinase type-2.				calcium ion import (GO:0070509)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|cellular response to glucose starvation (GO:0042149)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|NADP metabolic process (GO:0006739)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gluconeogenesis (GO:0045721)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphorylation (GO:0042327)|regulation of glucose transport (GO:0010827)|regulation of glycolytic process (GO:0006110)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transport (GO:0043266)|second-messenger-mediated signaling (GO:0019932)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|secretory granule (GO:0030141)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|magnesium ion binding (GO:0000287)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						ATCTCGCAGCTGGGCGTCAGC	0.657																																						uc003tkl.2		NA																	0				skin(3)|lung(1)	4						c.(1297-1299)AGC>TGC		glucokinase isoform 1							26.0	29.0	28.0					7																	44184836		2203	4299	6502	SO:0001583	missense	2645				cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding	g.chr7:44184836T>A	AF041014	CCDS5479.1, CCDS5480.1, CCDS5481.1	7p15.3-p15.1	2008-02-07	2008-02-07		ENSG00000106633	ENSG00000106633	2.7.1.2, 2.7.1.1		4195	protein-coding gene	gene with protein product		138079	"""maturity onset diabetes of the young 2"""	MODY2		1740341, 1502186	Standard	NM_033507		Approved	HK4	uc003tkk.1	P35557	OTTHUMG00000022903	ENST00000403799.3:c.1297A>T	7.37:g.44184836T>A	ENSP00000384247:p.Ser433Cys					GCK_uc003tkh.1_Missense_Mutation_p.S106C|GCK_uc003tki.1_Missense_Mutation_p.S111C|GCK_uc003tkj.1_Missense_Mutation_p.S432C|GCK_uc003tkk.1_Missense_Mutation_p.S434C	p.S433C	NM_000162	NP_000153	P35557	HXK4_HUMAN			10	1767	-			433					A4D2J2|A4D2J3|Q05810	Missense_Mutation	SNP	ENST00000403799.3	37	c.1297A>T	CCDS5479.1	.	.	.	.	.	.	.	.	.	.	T	16.25	3.069113	0.55539	.	.	ENSG00000106633	ENST00000336642;ENST00000403799;ENST00000395796;ENST00000345378;ENST00000437084	D;D;D;D;D	0.98234	-4.81;-4.81;-4.81;-4.81;-4.81	5.83	1.87	0.25490	Hexokinase, C-terminal (1);	0.418331	0.31834	N	0.006982	D	0.92159	0.7514	N	0.15975	0.35	0.28802	N	0.898741	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.001;0.0;0.0;0.002;0.002	D	0.84676	0.0714	10	0.45353	T	0.12	-34.0889	0.3995	0.00423	0.2236:0.2797:0.1476:0.3491	.	433;434;432;416;433	P35557;P35557-2;P35557-3;C9JQD1;A7LFL1	HXK4_HUMAN;.;.;.;.	C	117;433;432;434;416	ENSP00000338009:S117C;ENSP00000384247:S433C;ENSP00000379142:S432C;ENSP00000223366:S434C;ENSP00000402840:S416C	ENSP00000338009:S117C	S	-	1	0	GCK	44151361	0.043000	0.20138	1.000000	0.80357	0.992000	0.81027	0.345000	0.19979	0.448000	0.26722	0.459000	0.35465	AGC		0.657	GCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251069.2			15	25	0	0	0	0	15	25				
CAMK2B	816	broad.mit.edu	37	7	44259804	44259804	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:44259804T>A	ENST00000395749.2	-	23	1934	c.1858A>T	c.(1858-1860)Atc>Ttc	p.I620F	CAMK2B_ENST00000502837.2_3'UTR|CAMK2B_ENST00000440254.2_Missense_Mutation_p.I496F|CAMK2B_ENST00000350811.3_Missense_Mutation_p.I496F|CAMK2B_ENST00000258682.6_Missense_Mutation_p.I471F|CAMK2B_ENST00000358707.3_Missense_Mutation_p.I457F|CAMK2B_ENST00000346990.4_Missense_Mutation_p.I403F|CAMK2B_ENST00000457475.1_Missense_Mutation_p.I472F|CAMK2B_ENST00000395747.2_Missense_Mutation_p.I472F|CAMK2B_ENST00000353625.4_Missense_Mutation_p.I433F|CAMK2B_ENST00000347193.4_Missense_Mutation_p.I446F|CAMK2B_ENST00000489429.1_5'UTR	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	620					activation of meiosis involved in egg activation (GO:0060466)|calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibitory G-protein coupled receptor phosphorylation (GO:0002030)|interferon-gamma-mediated signaling pathway (GO:0060333)|neuromuscular process controlling balance (GO:0050885)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neuron projection development (GO:0010976)|positive regulation of synapse maturation (GO:0090129)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of calcium ion transport (GO:0051924)|regulation of dendritic spine development (GO:0060998)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of skeletal muscle adaptation (GO:0014733)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, cholinergic (GO:0032222)|response to cadmium ion (GO:0046686)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						GTGAGCCGGATGTAAGCGATG	0.642																																						uc003tkq.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(1858-1860)ATC>TTC		calcium/calmodulin-dependent protein kinase II							97.0	61.0	73.0					7																	44259804		2203	4300	6503	SO:0001583	missense	816				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr7:44259804T>A	U50358	CCDS5483.1, CCDS5484.1, CCDS5485.1, CCDS5486.1, CCDS5487.1, CCDS5488.1, CCDS5489.1, CCDS43573.1	7p14.3-p14.1	2008-10-30	2008-10-30		ENSG00000058404	ENSG00000058404			1461	protein-coding gene	gene with protein product	"""CaM-kinase II beta chain"", ""calcium/calmodulin-dependent protein kinase type II beta chain"", ""CaM kinase II beta subunit"", ""proline rich calmodulin-dependent protein kinase"""	607707	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II beta"""	CAMKB			Standard	NM_172079		Approved	CAM2, CAMK2	uc003tkq.2	Q13554	OTTHUMG00000023491	ENST00000395749.2:c.1858A>T	7.37:g.44259804T>A	ENSP00000379098:p.Ile620Phe					CAMK2B_uc003tkp.2_Missense_Mutation_p.I496F|CAMK2B_uc003tkx.2_Missense_Mutation_p.I456F|CAMK2B_uc010kyd.2_RNA|CAMK2B_uc003tkr.2_Missense_Mutation_p.I472F|CAMK2B_uc003tks.2_Missense_Mutation_p.I471F|CAMK2B_uc003tku.2_Missense_Mutation_p.I457F|CAMK2B_uc003tkv.2_Missense_Mutation_p.I433F|CAMK2B_uc003tkt.2_Missense_Mutation_p.I446F|CAMK2B_uc003tkw.2_Missense_Mutation_p.I403F|CAMK2B_uc010kyc.2_Missense_Mutation_p.I496F|CAMK2B_uc003tkn.2_Missense_Mutation_p.I253F	p.I620F	NM_001220	NP_001211	Q13554	KCC2B_HUMAN			23	2068	-			620					A4D2K0|A4D2K1|A4D2K2|A4D2K3|A4D2K4|A4D2K5|A4D2K6|O95437|O95438|O95599|Q9UGH7|Q9UGH8|Q9UGH9|Q9UNX0|Q9UNX7|Q9UP00|Q9Y5N4|Q9Y6F4	Missense_Mutation	SNP	ENST00000395749.2	37	c.1858A>T	CCDS5483.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.357842	0.82243	.	.	ENSG00000058404	ENST00000350811;ENST00000457475;ENST00000395749;ENST00000425809;ENST00000440254;ENST00000358707;ENST00000353625;ENST00000347193;ENST00000346990;ENST00000258682;ENST00000395747	T;T;T;T;T;T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63	4.43	4.43	0.53597	Calcium/calmodulin-dependent protein kinase II, association-domain (1);	.	.	.	.	T	0.68696	0.3029	M	0.81942	2.565	0.80722	D	1	D;D;P;D;D;D;D;D;D;D	0.89917	0.963;0.994;0.937;0.999;0.987;0.97;0.963;1.0;0.999;1.0	P;D;D;D;D;D;P;D;P;D	0.91635	0.883;0.976;0.913;0.999;0.974;0.929;0.856;0.998;0.901;0.998	T	0.73990	-0.3808	9	0.87932	D	0	.	12.7795	0.57469	0.0:0.0:0.0:1.0	.	471;403;433;457;446;471;472;620;496;620	Q13554-8;Q13554-7;Q13554-4;Q13554-3;Q13554-6;A4D2K5;Q13554-5;Q13554;Q13554-2;A4D2J9	.;.;.;.;.;.;.;KCC2B_HUMAN;.;.	F	496;472;620;138;496;457;433;446;403;471;472	ENSP00000326375:I496F;ENSP00000390292:I472F;ENSP00000379098:I620F;ENSP00000410445:I138F;ENSP00000397937:I496F;ENSP00000351542:I457F;ENSP00000326427:I433F;ENSP00000326544:I446F;ENSP00000326518:I403F;ENSP00000258682:I471F;ENSP00000379096:I472F	ENSP00000258682:I471F	I	-	1	0	CAMK2B	44226329	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	7.508000	0.81686	1.868000	0.54150	0.379000	0.24179	ATC		0.642	CAMK2B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251138.2	NM_172084		9	40	0	0	0	0	9	40				
H2AFV	94239	broad.mit.edu	37	7	44880522	44880522	+	Silent	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:44880522C>A	ENST00000308153.4	-	3	262	c.171G>T	c.(169-171)gcG>gcT	p.A57A	H2AFV_ENST00000350771.3_Silent_p.A31A|H2AFV_ENST00000381124.5_Silent_p.A57A|H2AFV_ENST00000437072.1_Intron|H2AFV_ENST00000349299.3_Intron|H2AFV_ENST00000521529.1_Silent_p.A31A|H2AFV_ENST00000222690.6_Silent_p.A57A|H2AFV_ENST00000446531.1_Silent_p.A57A	NM_012412.4	NP_036544.1	Q71UI9	H2AV_HUMAN	H2A histone family, member V	57						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	9						ACTCCAGAATCGCAGCACTGT	0.512																																						uc003tma.2		NA																	0					0						c.(169-171)GCG>GCT		H2A histone family, member V isoform 1							110.0	92.0	98.0					7																	44880522		2203	4300	6503	SO:0001819	synonymous_variant	94239				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr7:44880522C>A	AF081192	CCDS5495.1, CCDS5496.1, CCDS5497.1, CCDS5498.1, CCDS47581.1	7p13	2011-01-27		2004-03-26	ENSG00000105968	ENSG00000105968		"""Histones / Replication-independent"""	20664	protein-coding gene	gene with protein product				H2AV			Standard	NM_012412		Approved	MGC10170, MGC10831, MGC1947	uc003tma.2	Q71UI9	OTTHUMG00000129217	ENST00000308153.4:c.171G>T	7.37:g.44880522C>A						H2AFV_uc003tlz.2_Silent_p.A57A|H2AFV_uc003tmb.2_Intron|H2AFV_uc003tmc.2_Silent_p.A57A|H2AFV_uc003tmd.2_Silent_p.A31A	p.A57A	NM_012412	NP_036544	Q71UI9	H2AV_HUMAN			3	326	-			57					A6NFA8|A6NKY0|A6NN01|A8MQC5|Q59GV8|Q6PK98	Silent	SNP	ENST00000308153.4	37	c.171G>T	CCDS5496.1																																																																																				0.512	H2AFV-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251305.1	NM_012412		9	47	1	0	7.48e-07	8.86e-07	9	47				
PURB	5814	broad.mit.edu	37	7	44924479	44924479	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:44924479A>T	ENST00000395699.2	-	1	481	c.469T>A	c.(469-471)Ttc>Atc	p.F157I	RP4-673M15.1_ENST00000608450.1_RNA	NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	157	Gly-rich.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of myeloid cell differentiation (GO:0045637)|transcription, DNA-templated (GO:0006351)	DNA replication factor A complex (GO:0005662)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						cccgcgccgAAGCCGCCACCG	0.701																																						uc003tme.2		NA																	0					0						c.(469-471)TTC>ATC		purine-rich element binding protein B							4.0	4.0	4.0					7																	44924479		2008	3984	5992	SO:0001583	missense	5814				regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding	g.chr7:44924479A>T		CCDS5499.1	7p13	2008-07-18			ENSG00000146676	ENSG00000146676			9702	protein-coding gene	gene with protein product		608887				1448097	Standard	NM_033224		Approved	PURBETA	uc003tme.3	Q96QR8	OTTHUMG00000023578	ENST00000395699.2:c.469T>A	7.37:g.44924479A>T	ENSP00000379051:p.Phe157Ile						p.F157I	NM_033224	NP_150093	Q96QR8	PURB_HUMAN			1	482	-			157			Gly-rich.|By similarity.		A4D2L7	Missense_Mutation	SNP	ENST00000395699.2	37	c.469T>A	CCDS5499.1	.	.	.	.	.	.	.	.	.	.	A	5.788	0.329752	0.10956	.	.	ENSG00000146676	ENST00000395699	T	0.27890	1.64	2.77	2.77	0.32553	.	0.259393	0.22605	U	0.057914	T	0.16300	0.0392	L	0.36672	1.1	0.37799	D	0.927621	P	0.36633	0.562	B	0.35073	0.195	T	0.13980	-1.0489	10	0.02654	T	1	.	5.1755	0.15133	0.7394:0.0:0.0:0.2606	.	157	Q96QR8	PURB_HUMAN	I	157	ENSP00000379051:F157I	ENSP00000379051:F157I	F	-	1	0	PURB	44891004	0.994000	0.37717	1.000000	0.80357	0.330000	0.28571	2.486000	0.45259	1.238000	0.43771	0.379000	0.24179	TTC		0.701	PURB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251332.2	NM_033224		3	6	0	0	0	0	3	6				
PKD1L1	168507	broad.mit.edu	37	7	47870817	47870817	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:47870817G>C	ENST00000289672.2	-	42	6521	c.6471C>G	c.(6469-6471)taC>taG	p.Y2157*		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2157					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CAGCTCACCTGTAGGCTAGAA	0.507																																						uc003tny.1		NA																	0				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						c.(6469-6471)TAC>TAG		polycystin-1L1							104.0	94.0	98.0					7																	47870817		2203	4300	6503	SO:0001587	stop_gained	168507				cell-cell adhesion	integral to membrane		g.chr7:47870817G>C	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.6471C>G	7.37:g.47870817G>C	ENSP00000289672:p.Tyr2157*					C7orf69_uc003toa.1_RNA	p.Y2157*	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN			42	6471	-			2157			Extracellular (Potential).		Q6UWK1	Nonsense_Mutation	SNP	ENST00000289672.2	37	c.6471C>G	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	G	46	12.809761	0.99698	.	.	ENSG00000158683	ENST00000289672	.	.	.	5.15	3.31	0.37934	.	0.336035	0.24265	N	0.040054	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.7857	8.0692	0.30678	0.1945:0.0:0.8055:0.0	.	.	.	.	X	2157	.	ENSP00000289672:Y2157X	Y	-	3	2	PKD1L1	47837342	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	0.752000	0.26362	1.157000	0.42530	0.563000	0.77884	TAC		0.507	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		58	84	0	0	0	0	58	84				
ABCA13	154664	broad.mit.edu	37	7	48356867	48356867	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:48356867C>T	ENST00000435803.1	+	27	9997	c.9973C>T	c.(9973-9975)Cca>Tca	p.P3325S		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3325					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ACCAAACACTCCAGAAATTAA	0.333																																						uc003toq.2		NA																	0				ovary(5)|central_nervous_system(4)|skin(1)	10						c.(9973-9975)CCA>TCA		ATP binding cassette, sub-family A (ABC1),							62.0	61.0	61.0					7																	48356867		1834	4078	5912	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48356867C>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.9973C>T	7.37:g.48356867C>T	ENSP00000411096:p.Pro3325Ser					ABCA13_uc010kys.1_Missense_Mutation_p.P399S|ABCA13_uc003tos.1_Missense_Mutation_p.P151S	p.P3325S	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			27	9998	+			3325					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.9973C>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.605404	0.66445	.	.	ENSG00000179869	ENST00000435803	D	0.84800	-1.9	5.87	5.0	0.66597	.	0.135520	0.33916	N	0.004421	T	0.80783	0.4689	L	0.52573	1.65	0.80722	D	1	P;P	0.46277	0.875;0.867	B;B	0.43301	0.415;0.411	T	0.79305	-0.1858	10	0.39692	T	0.17	.	8.2352	0.31622	0.1644:0.7565:0.0:0.0791	.	1027;3325	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	S	3325	ENSP00000411096:P3325S	ENSP00000411096:P3325S	P	+	1	0	ABCA13	48327413	0.004000	0.15560	0.890000	0.34922	0.884000	0.51177	0.539000	0.23175	1.635000	0.50512	0.655000	0.94253	CCA		0.333	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		8	50	0	0	0	0	8	50				
HIP1	3092	broad.mit.edu	37	7	75174442	75174442	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:75174442C>T	ENST00000336926.6	-	26	2630	c.2604G>A	c.(2602-2604)tgG>tgA	p.W868*	HIP1_ENST00000434438.2_Nonsense_Mutation_p.W817*	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	868	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.|Important for actin binding. {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GTCCTTCTGTCCATCGAGAGT	0.463			T	PDGFRB	CMML																																	uc003uds.1		NA		Dom	yes		7	7q11.23	3092	T	huntingtin interacting protein 1			L	PDGFRB		CMML		0				lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8						c.(2602-2604)TGG>TGA		huntingtin interacting protein 1							137.0	138.0	137.0					7																	75174442		2203	4300	6503	SO:0001587	stop_gained	3092				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	g.chr7:75174442C>T	AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.2604G>A	7.37:g.75174442C>T	ENSP00000336747:p.Trp868*					HIP1_uc011kfz.1_Nonsense_Mutation_p.W694*	p.W868*	NM_005338	NP_005329	O00291	HIP1_HUMAN			26	2645	-			868			Important for actin binding (By similarity).|I/LWEQ.		B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Nonsense_Mutation	SNP	ENST00000336926.6	37	c.2604G>A	CCDS34669.1	.	.	.	.	.	.	.	.	.	.	c	40	8.256903	0.98729	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.5299	18.1669	0.89731	0.0:1.0:0.0:0.0	.	.	.	.	X	868;817	.	ENSP00000336747:W868X	W	-	3	0	HIP1	75012378	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.488000	0.81441	2.644000	0.89710	0.655000	0.94253	TGG		0.463	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338		72	215	0	0	0	0	72	215				
PTPN12	5782	broad.mit.edu	37	7	77256227	77256227	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:77256227A>C	ENST00000248594.6	+	13	1503	c.1231A>C	c.(1231-1233)Aaa>Caa	p.K411Q	PTPN12_ENST00000415482.2_Missense_Mutation_p.K292Q|PTPN12_ENST00000435495.2_Missense_Mutation_p.K281Q	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	411	Interaction with TGFB1I1. {ECO:0000250}.				protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						AAACTATAGTAAATCAACAGA	0.368																																						uc003ugh.2		NA																	0				ovary(1)|breast(1)|pancreas(1)	3						c.(1231-1233)AAA>CAA		protein tyrosine phosphatase, non-receptor type							49.0	50.0	50.0					7																	77256227		2203	4300	6503	SO:0001583	missense	5782					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding	g.chr7:77256227A>C		CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.1231A>C	7.37:g.77256227A>C	ENSP00000248594:p.Lys411Gln					PTPN12_uc011kgp.1_Missense_Mutation_p.K292Q|PTPN12_uc011kgq.1_Missense_Mutation_p.K281Q|PTPN12_uc010lds.2_Missense_Mutation_p.K143Q	p.K411Q	NM_002835	NP_002826	Q05209	PTN12_HUMAN			13	1322	+			411			Interaction with TGFB1I1 (By similarity).		A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Missense_Mutation	SNP	ENST00000248594.6	37	c.1231A>C	CCDS5592.1	.	.	.	.	.	.	.	.	.	.	A	16.03	3.006271	0.54361	.	.	ENSG00000127947	ENST00000248594;ENST00000415482;ENST00000543073;ENST00000435495	T;T;T	0.08102	3.72;3.13;3.13	6.17	6.17	0.99709	.	0.202088	0.51477	D	0.000084	T	0.30854	0.0778	M	0.81497	2.545	0.47065	D	0.999306	D	0.65815	0.995	D	0.64144	0.922	T	0.02026	-1.1227	10	0.72032	D	0.01	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	411	Q05209	PTN12_HUMAN	Q	411;292;292;281	ENSP00000248594:K411Q;ENSP00000392429:K292Q;ENSP00000397991:K281Q	ENSP00000248594:K411Q	K	+	1	0	PTPN12	77094163	1.000000	0.71417	0.492000	0.27490	0.858000	0.48976	7.445000	0.80570	2.371000	0.80710	0.533000	0.62120	AAA		0.368	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3			14	82	0	0	0	0	14	82				
CACNA2D1	781	broad.mit.edu	37	7	81620521	81620521	+	Silent	SNP	A	A	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:81620521A>T	ENST00000356253.5	-	22	2088	c.1833T>A	c.(1831-1833)ccT>ccA	p.P611P	CACNA2D1_ENST00000356860.3_Silent_p.P592P			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	611					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	TGCCATTGACAGGTGTCCATG	0.303																																						uc003uhr.1		NA																	0				ovary(5)|pancreas(1)	6						c.(1774-1776)CCT>CCA		calcium channel, voltage-dependent, alpha	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						147.0	127.0	134.0					7																	81620521		2202	4296	6498	SO:0001819	synonymous_variant	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81620521A>T	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.1833T>A	7.37:g.81620521A>T							p.P592P	NM_000722	NP_000713	P54289	CA2D1_HUMAN			21	2032	-			611			Extracellular (Potential).		Q17R45|Q9UD80|Q9UD81|Q9UD82	Silent	SNP	ENST00000356253.5	37	c.1776T>A		.	.	.	.	.	.	.	.	.	.	A	10.91	1.483596	0.26598	.	.	ENSG00000153956	ENST00000443883	.	.	.	5.93	-2.86	0.05717	.	.	.	.	.	T	0.40015	0.1100	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.31052	-0.9957	4	.	.	.	-15.2417	2.7441	0.05262	0.2973:0.2191:0.0611:0.4225	.	.	.	.	Q	110	.	.	L	-	2	0	CACNA2D1	81458457	0.894000	0.30519	0.988000	0.46212	0.981000	0.71138	0.051000	0.14141	-0.470000	0.06901	-0.257000	0.10917	CTG		0.303	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				16	105	0	0	0	0	16	105				
CALCR	799	broad.mit.edu	37	7	93106955	93106955	+	Silent	SNP	A	A	G	rs139631014		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:93106955A>G	ENST00000394441.1	-	4	546	c.231T>C	c.(229-231)gaT>gaC	p.D77D	CALCR_ENST00000359558.2_Silent_p.D95D|CALCR_ENST00000360249.4_Silent_p.D77D|CALCR_ENST00000426151.1_Silent_p.D77D|CALCR_ENST00000421592.1_Silent_p.D77D	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	95					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	ACAGCCATCCATCCCAGGTGC	0.428													A|||	1	0.000199681	0.0008	0.0	5008	,	,		16624	0.0		0.0	False		,,,				2504	0.0					uc003umv.1		NA																	0				ovary(3)|lung(3)|skin(2)|pancreas(1)	9						c.(283-285)GAT>GAC		calcitonin receptor isoform 2 precursor	Salmon Calcitonin(DB00017)	A	,,	4,4402	8.1+/-20.4	0,4,2199	90.0	75.0	80.0		285,231,231	0.5	1.0	7	dbSNP_134	80	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	CALCR	NM_001164737.1,NM_001164738.1,NM_001742.3	,,	0,4,6499	GG,GA,AA		0.0,0.0908,0.0308	,,	95/509,77/475,77/475	93106955	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	799				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding	g.chr7:93106955A>G	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.231T>C	7.37:g.93106955A>G						CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Silent_p.D77D|CALCR_uc003umw.2_Silent_p.D77D	p.D95D	NM_001742	NP_001733	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		5	546	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		77			Extracellular (Potential).		A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Silent	SNP	ENST00000394441.1	37	c.285T>C	CCDS5631.1																																																																																				0.428	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		29	63	0	0	0	0	29	63				
BET1	10282	broad.mit.edu	37	7	93628607	93628607	+	Splice_Site	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:93628607C>A	ENST00000222547.3	-	2	178		c.e2-1		BET1_ENST00000425626.1_Splice_Site|BET1_ENST00000471446.1_5'Flank|AC006378.2_ENST00000426634.1_RNA|BET1_ENST00000433727.1_Splice_Site|AC006378.2_ENST00000426193.2_RNA	NM_005868.4	NP_005859.1	O15155	BET1_HUMAN	Bet1 golgi vesicular membrane trafficking protein						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)|vesicle fusion with Golgi apparatus (GO:0048280)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				large_intestine(2)|lung(1)|prostate(1)|skin(1)	5	all_cancers(62;2.22e-10)|all_epithelial(64;1.38e-09)|Lung NSC(181;0.218)	Breast(660;0.000162)|Ovarian(593;0.000626)	STAD - Stomach adenocarcinoma(171;0.000967)			ACTCCTTCACCTGCAAGGATC	0.458																																						uc003unf.1		NA																	0					0						c.e2-1		blocked early in transport 1							62.0	56.0	58.0					7																	93628607		2203	4300	6503	SO:0001630	splice_region_variant	10282				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein binding	g.chr7:93628607C>A	AF007551	CCDS5635.1	7q21.1-q22	2013-03-08	2013-03-08		ENSG00000105829	ENSG00000105829			14562	protein-coding gene	gene with protein product	"""Golgi vesicular membrane trafficking protein p18"", ""Bet1p homolog"""	605456	"""Bet1 (S. cerevisiae) homolog"", ""BET1 homolog (S. cerevisiae)"", ""blocked early in transport 1 homolog (S. cerevisiae)"""			9382863, 10449330	Standard	XM_005250109		Approved	hbet1	uc003unf.1	O15155	OTTHUMG00000023487	ENST00000222547.3:c.20-1G>T	7.37:g.93628607C>A						BET1_uc003une.3_Splice_Site	p.G7_splice	NM_005868	NP_005859	O15155	BET1_HUMAN	STAD - Stomach adenocarcinoma(171;0.000967)		2	182	-	all_cancers(62;2.22e-10)|all_epithelial(64;1.38e-09)|Lung NSC(181;0.218)	Breast(660;0.000162)|Ovarian(593;0.000626)						Q96EA0	Splice_Site	SNP	ENST00000222547.3	37	c.20_splice	CCDS5635.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.533431	0.64972	.	.	ENSG00000105829	ENST00000222547;ENST00000433727;ENST00000457139;ENST00000425626	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.561	0.87908	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BET1	93466543	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	6.130000	0.71663	2.758000	0.94735	0.655000	0.94253	.		0.458	BET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255181.2	NM_005868	Intron	33	66	1	0	5.83e-16	7.89e-16	33	66				
PPP1R3A	5506	broad.mit.edu	37	7	113519481	113519481	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:113519481C>T	ENST00000284601.3	-	4	1734	c.1666G>A	c.(1666-1668)Gga>Aga	p.G556R		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	556					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTACTAGCTCCAATCCCTGCC	0.418																																						uc010ljy.1		NA																	0				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						c.(1666-1668)GGA>AGA		protein phosphatase 1, regulatory (inhibitor)							107.0	99.0	102.0					7																	113519481		2203	4300	6503	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113519481C>T	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1666G>A	7.37:g.113519481C>T	ENSP00000284601:p.Gly556Arg						p.G556R	NM_002711	NP_002702	Q16821	PPR3A_HUMAN			4	1697	-			556					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.1666G>A	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.090921	0.36855	.	.	ENSG00000154415	ENST00000284601	T	0.16324	2.35	5.72	3.49	0.39957	.	0.747577	0.12298	N	0.481345	T	0.13200	0.0320	L	0.46157	1.445	0.09310	N	1	P	0.35077	0.483	B	0.27887	0.084	T	0.19418	-1.0306	10	0.52906	T	0.07	-0.2777	5.8817	0.18858	0.2005:0.6021:0.0:0.1974	.	556	Q16821	PPR3A_HUMAN	R	556	ENSP00000284601:G556R	ENSP00000284601:G556R	G	-	1	0	PPP1R3A	113306717	0.000000	0.05858	0.042000	0.18584	0.047000	0.14425	0.441000	0.21611	1.213000	0.43380	0.655000	0.94253	GGA		0.418	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		64	136	0	0	0	0	64	136				
CPED1	79974	broad.mit.edu	37	7	120764512	120764512	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:120764512C>A	ENST00000310396.5	+	8	1513	c.1046C>A	c.(1045-1047)cCa>cAa	p.P349Q	CPED1_ENST00000450913.2_Missense_Mutation_p.P349Q|CPED1_ENST00000423795.1_Missense_Mutation_p.P129Q	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	349						endoplasmic reticulum (GO:0005783)											ACTCTGGGACCAAAGACCTTC	0.343																																						uc003vjq.3		NA																	0				ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9						c.(1045-1047)CCA>CAA		hypothetical protein LOC79974 isoform 1							56.0	55.0	55.0					7																	120764512		2203	4300	6503	SO:0001583	missense	79974					endoplasmic reticulum		g.chr7:120764512C>A		CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.1046C>A	7.37:g.120764512C>A	ENSP00000309772:p.Pro349Gln					C7orf58_uc003vjr.1_Missense_Mutation_p.P349Q|C7orf58_uc003vjs.3_Missense_Mutation_p.P349Q|C7orf58_uc003vjt.3_Missense_Mutation_p.P129Q|C7orf58_uc010lkk.1_Missense_Mutation_p.P129Q	p.P349Q	NM_024913	NP_079189	A4D0V7	CG058_HUMAN			8	1493	+	all_neural(327;0.117)		349					A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	ENST00000310396.5	37	c.1046C>A	CCDS34739.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404959	0.62288	.	.	ENSG00000106034	ENST00000310396;ENST00000428526;ENST00000450913;ENST00000423795;ENST00000443817	T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35	5.08	5.08	0.68730	.	0.132125	0.51477	D	0.000089	T	0.72661	0.3488	M	0.73598	2.24	0.80722	D	1	D;D;D	0.76494	0.999;0.989;0.998	D;D;D	0.68943	0.961;0.939;0.953	T	0.76162	-0.3060	10	0.72032	D	0.01	.	18.4275	0.90614	0.0:1.0:0.0:0.0	.	129;349;349	G5E9U2;A4D0V7-2;A4D0V7	.;.;CG058_HUMAN	Q	349;349;349;129;129	ENSP00000309772:P349Q;ENSP00000398082:P349Q;ENSP00000406122:P349Q;ENSP00000415573:P129Q;ENSP00000391952:P129Q	ENSP00000309772:P349Q	P	+	2	0	C7orf58	120551748	1.000000	0.71417	1.000000	0.80357	0.527000	0.34593	3.181000	0.50903	2.519000	0.84933	0.591000	0.81541	CCA		0.343	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913		23	79	1	0	6.33e-13	8.31e-13	23	79				
DGKI	9162	broad.mit.edu	37	7	137206698	137206698	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:137206698G>C	ENST00000288490.5	-	21	2162	c.2162C>G	c.(2161-2163)cCa>cGa	p.P721R	DGKI_ENST00000446122.1_Missense_Mutation_p.P721R|DGKI_ENST00000424189.2_Missense_Mutation_p.P742R|DGKI_ENST00000453654.2_Missense_Mutation_p.P421R	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	721					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CAGACGATCTGGGACAGACTG	0.458																																						uc003vtt.2		NA																	0				ovary(1)|kidney(1)|skin(1)	3						c.(2161-2163)CCA>CGA		diacylglycerol kinase, iota							71.0	63.0	66.0					7																	137206698		2203	4300	6503	SO:0001583	missense	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137206698G>C	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.2162C>G	7.37:g.137206698G>C	ENSP00000288490:p.Pro721Arg					DGKI_uc003vtu.2_Missense_Mutation_p.P421R	p.P721R	NM_004717	NP_004708	O75912	DGKI_HUMAN			21	2163	-			721					A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	c.2162C>G	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.599097	0.87055	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.34859	1.91;1.34;1.54	5.87	5.87	0.94306	.	0.104362	0.64402	D	0.000002	T	0.59932	0.2230	M	0.69823	2.125	0.80722	D	1	D;D	0.63046	0.985;0.992	P;P	0.62089	0.769;0.898	T	0.57740	-0.7759	10	0.56958	D	0.05	.	20.1777	0.98189	0.0:0.0:1.0:0.0	.	421;721	E9PFX6;O75912	.;DGKI_HUMAN	R	421;669;742;721;721	ENSP00000392161:P421R;ENSP00000288490:P721R;ENSP00000399131:P721R	ENSP00000288490:P721R	P	-	2	0	DGKI	136857238	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.214000	0.89760	2.941000	0.99782	0.655000	0.94253	CCA		0.458	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		15	46	0	0	0	0	15	46				
TRPV5	56302	broad.mit.edu	37	7	142605970	142605970	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:142605970C>T	ENST00000265310.1	-	15	2248	c.1900G>A	c.(1900-1902)Gag>Aag	p.E634K		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	634					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TTGTGGTTCTCAACCCTGATA	0.502																																						uc003wby.1		NA																	0				ovary(3)|central_nervous_system(2)|skin(1)	6						c.(1900-1902)GAG>AAG		transient receptor potential cation channel,							48.0	48.0	48.0					7																	142605970		2203	4300	6503	SO:0001583	missense	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142605970C>T	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.1900G>A	7.37:g.142605970C>T	ENSP00000265310:p.Glu634Lys						p.E634K	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN			15	2164	-	Melanoma(164;0.059)		634			Cytoplasmic (Potential).		A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Missense_Mutation	SNP	ENST00000265310.1	37	c.1900G>A	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.626261	0.28978	.	.	ENSG00000127412	ENST00000265310;ENST00000439304	T;T	0.80824	-1.39;-1.42	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.77558	0.4148	L	0.59912	1.85	0.80722	D	1	B	0.22909	0.077	B	0.21546	0.035	T	0.74134	-0.3763	10	0.36615	T	0.2	-12.846	15.2639	0.73646	0.0:1.0:0.0:0.0	.	634	Q9NQA5	TRPV5_HUMAN	K	634;579	ENSP00000265310:E634K;ENSP00000406361:E579K	ENSP00000265310:E634K	E	-	1	0	TRPV5	142316092	1.000000	0.71417	0.416000	0.26546	0.049000	0.14656	5.436000	0.66538	2.534000	0.85438	0.655000	0.94253	GAG		0.502	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		33	82	0	0	0	0	33	82				
CNTNAP2	26047	broad.mit.edu	37	7	147844745	147844745	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:147844745G>C	ENST00000361727.3	+	17	3233	c.2717G>C	c.(2716-2718)cGc>cCc	p.R906P	CNTNAP2_ENST00000538075.1_5'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	906	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.		R -> H. {ECO:0000269|PubMed:18179895}.		adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CAGCAGATCCGCAAGGCCCCA	0.557										HNSCC(39;0.1)																												uc003weu.1		NA																	0				ovary(9)|central_nervous_system(1)|pancreas(1)	11	GRCh37	CM082573	CNTNAP2	M		c.(2716-2718)CGC>CCC		cell recognition molecule Caspr2 precursor							69.0	66.0	67.0					7																	147844745		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147844745G>C	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.2717G>C	7.37:g.147844745G>C	ENSP00000354778:p.Arg906Pro	HNSCC(39;0.1)					p.R906P	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		17	3233	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	906		R -> H.	Laminin G-like 3.|Extracellular (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.2717G>C	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.318178	0.81469	.	.	ENSG00000174469	ENST00000361727	T	0.78816	-1.21	5.49	5.49	0.81192	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.88440	0.6437	M	0.89840	3.065	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	D	0.87684	0.2549	10	0.31617	T	0.26	.	11.4516	0.50156	0.0822:0.0:0.9178:0.0	.	906	Q9UHC6	CNTP2_HUMAN	P	906	ENSP00000354778:R906P	ENSP00000354778:R906P	R	+	2	0	CNTNAP2	147475678	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.709000	0.68384	2.583000	0.87209	0.561000	0.74099	CGC		0.557	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			35	79	0	0	0	0	35	79				
DPP6	1804	broad.mit.edu	37	7	154519576	154519576	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:154519576C>T	ENST00000377770.3	+	8	1003	c.862C>T	c.(862-864)Ctc>Ttc	p.L288F	DPP6_ENST00000332007.3_Missense_Mutation_p.L226F|DPP6_ENST00000404039.1_Missense_Mutation_p.L224F|DPP6_ENST00000427557.1_Missense_Mutation_p.L181F			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	288					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TTACAATGGCCTCAGTGACTG	0.428																																					NSCLC(125;1384 1783 2490 7422 34254)	uc003wlk.2		NA																	0				pancreas(3)|breast(1)	4						c.(862-864)CTC>TTC		dipeptidyl-peptidase 6 isoform 1							122.0	118.0	119.0					7																	154519576		1992	4173	6165	SO:0001583	missense	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154519576C>T	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.862C>T	7.37:g.154519576C>T	ENSP00000367001:p.Leu288Phe					DPP6_uc003wli.2_Missense_Mutation_p.L224F|DPP6_uc003wlm.2_Missense_Mutation_p.L226F|DPP6_uc011kvq.1_Missense_Mutation_p.L181F	p.L288F	NM_130797	NP_570629	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		8	991	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	288			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000377770.3	37	c.862C>T		.	.	.	.	.	.	.	.	.	.	C	21.0	4.076516	0.76415	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.34472	1.36;1.36;1.36;1.36	5.22	5.22	0.72569	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.63498	0.2516	M	0.79475	2.455	0.80722	D	1	D;D;D;D	0.89917	0.994;1.0;1.0;1.0	D;D;D;D	0.81914	0.965;0.991;0.995;0.995	T	0.68284	-0.5449	10	0.87932	D	0	-27.025	18.7854	0.91952	0.0:1.0:0.0:0.0	.	181;226;288;224	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	F	224;288;226;181	ENSP00000385578:L224F;ENSP00000367001:L288F;ENSP00000328226:L226F;ENSP00000397303:L181F	ENSP00000328226:L226F	L	+	1	0	DPP6	154150509	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	4.537000	0.60643	2.432000	0.82394	0.579000	0.79373	CTC		0.428	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		26	61	0	0	0	0	26	61				
NCAPG2	54892	broad.mit.edu	37	7	158445168	158445168	+	Silent	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:158445168C>T	ENST00000409423.1	-	24	2923	c.2751G>A	c.(2749-2751)aaG>aaA	p.K917K	NCAPG2_ENST00000449727.2_Silent_p.K917K|NCAPG2_ENST00000409339.3_Silent_p.K917K|NCAPG2_ENST00000541468.1_Silent_p.K418K|NCAPG2_ENST00000275830.10_Silent_p.K709K|NCAPG2_ENST00000356309.3_Silent_p.K917K	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	917					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		AAAAAAATCCCTTCACTAGAA	0.303																																						uc003wnv.1		NA																	0				ovary(1)|breast(1)|kidney(1)	3						c.(2749-2751)AAG>AAA		leucine zipper protein 5							54.0	52.0	52.0					7																	158445168		1805	4070	5875	SO:0001819	synonymous_variant	54892				cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding	g.chr7:158445168C>T	BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"""leucine zipper protein 5"""	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.2751G>A	7.37:g.158445168C>T						NCAPG2_uc010lqu.1_Silent_p.K709K|NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Silent_p.K917K|NCAPG2_uc011kwe.1_Silent_p.K917K|NCAPG2_uc011kwc.1_Silent_p.K418K|NCAPG2_uc011kwd.1_Silent_p.K360K	p.K917K	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)	23	2896	-	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	917					A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Silent	SNP	ENST00000409423.1	37	c.2751G>A	CCDS43686.1	.	.	.	.	.	.	.	.	.	.	C	7.281	0.609156	0.14066	.	.	ENSG00000146918	ENST00000441982	.	.	.	5.73	0.212	0.15240	.	.	.	.	.	T	0.65386	0.2686	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62374	-0.6868	4	.	.	.	-27.2335	12.8378	0.57784	0.0:0.6177:0.0:0.3823	.	.	.	.	K	719	.	.	R	-	2	0	NCAPG2	158137929	0.966000	0.33281	0.998000	0.56505	0.881000	0.50899	-0.102000	0.10956	0.086000	0.17137	-0.137000	0.14449	AGG		0.303	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	NM_017760		18	53	0	0	0	0	18	53				
RP1L1	94137	broad.mit.edu	37	8	10465328	10465328	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:10465328C>T	ENST00000382483.3	-	4	6503	c.6280G>A	c.(6280-6282)Gcc>Acc	p.A2094T		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2174	25 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]-[AVT]-E-[GKE]-[ED]- [AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]- [EGSQDI]-[AVIE].				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCTGGCTGGGCCTCCCCTTCT	0.627																																						uc003wtc.2		NA																	0				ovary(4)|breast(3)|central_nervous_system(1)	8						c.(6280-6282)GCC>ACC		retinitis pigmentosa 1-like 1							144.0	159.0	155.0					8																	10465328		1975	4138	6113	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10465328C>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.6280G>A	8.37:g.10465328C>T	ENSP00000371923:p.Ala2094Thr						p.A2094T	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	6509	-			2094					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.6280G>A	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	-	2.617	-0.289356	0.05605	.	.	ENSG00000183638	ENST00000382483	T	0.08546	3.08	1.74	-3.47	0.04753	.	.	.	.	.	T	0.04497	0.0123	N	0.24115	0.695	0.09310	N	1	B	0.20671	0.047	B	0.22601	0.04	T	0.46857	-0.9161	9	0.17369	T	0.5	.	5.4092	0.16339	0.1874:0.498:0.3146:0.0	.	2094	A6NKC6	.	T	2094	ENSP00000371923:A2094T	ENSP00000371923:A2094T	A	-	1	0	RP1L1	10502738	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.100000	0.10990	-0.547000	0.06207	0.484000	0.47621	GCC		0.627	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			171	177	0	0	0	0	171	177				
PCMTD1	115294	broad.mit.edu	37	8	52733170	52733170	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:52733170G>C	ENST00000360540.5	-	7	1221	c.815C>G	c.(814-816)gCt>gGt	p.A272G	PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000522514.1_Missense_Mutation_p.A272G|PCMTD1_ENST00000544451.1_Missense_Mutation_p.A196G	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	272						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TTTGGGTGGAGCCCTTTGAGG	0.423																																						uc003xqx.3		NA																	0					0						c.(814-816)GCT>GGT		protein-L-isoaspartate (D-aspartate)							126.0	131.0	129.0					8																	52733170		2203	4298	6501	SO:0001583	missense	115294					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr8:52733170G>C		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.815C>G	8.37:g.52733170G>C	ENSP00000353739:p.Ala272Gly					PCMTD1_uc011ldm.1_Missense_Mutation_p.A142G|PCMTD1_uc003xqw.3_Missense_Mutation_p.A272G|PCMTD1_uc011ldn.1_Missense_Mutation_p.A84G|PCMTD1_uc010lya.2_Missense_Mutation_p.A196G	p.A272G	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN			6	1156	-		Lung NSC(129;0.0795)|all_lung(136;0.144)	272					Q96FK9	Missense_Mutation	SNP	ENST00000360540.5	37	c.815C>G	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.818137	0.50633	.	.	ENSG00000168300	ENST00000360540;ENST00000544451;ENST00000522514	T;T;T	0.43688	0.94;0.94;0.94	5.77	4.9	0.64082	.	0.196363	0.49305	D	0.000158	T	0.43656	0.1257	L	0.54323	1.7	0.48696	D	0.999698	B;P;B	0.50272	0.361;0.933;0.258	B;P;B	0.46452	0.154;0.517;0.031	T	0.27606	-1.0069	10	0.17832	T	0.49	-3.8979	15.0051	0.71504	0.0686:0.0:0.9314:0.0	.	142;196;272	B4E2B4;F5H1M8;Q96MG8	.;.;PCMD1_HUMAN	G	272;196;272	ENSP00000353739:A272G;ENSP00000444026:A196G;ENSP00000428099:A272G	ENSP00000353739:A272G	A	-	2	0	PCMTD1	52895723	1.000000	0.71417	0.982000	0.44146	0.995000	0.86356	5.803000	0.69129	1.439000	0.47511	0.655000	0.94253	GCT		0.423	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		37	320	0	0	0	0	37	320				
ATP6V1H	51606	broad.mit.edu	37	8	54669197	54669197	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:54669197C>A	ENST00000359530.2	-	12	1458	c.1195G>T	c.(1195-1197)Gaa>Taa	p.E399*	ATP6V1H_ENST00000523899.1_Intron|ATP6V1H_ENST00000355221.3_Nonsense_Mutation_p.E381*|ATP6V1H_ENST00000520188.1_Nonsense_Mutation_p.E359*|ATP6V1H_ENST00000396774.2_Nonsense_Mutation_p.E399*	NM_015941.3	NP_057025.2	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H	399					ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|endocytosis (GO:0006897)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|regulation of catalytic activity (GO:0050790)|regulation of defense response to virus by virus (GO:0050690)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V1 domain (GO:0000221)	enzyme regulator activity (GO:0030234)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			TCTGACACTTCCAAAAGTTTT	0.378																																						uc003xrl.2		NA																	0					0						c.(1195-1197)GAA>TAA		ATPase, H+ transporting, lysosomal 50/57kDa, V1							86.0	79.0	81.0					8																	54669197		2203	4300	6503	SO:0001587	stop_gained	51606				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr8:54669197C>A	AF132945	CCDS6153.1, CCDS6154.1	8q11.2	2011-05-24	2002-08-29		ENSG00000047249	ENSG00000047249		"""ATPases / V-type"""	18303	protein-coding gene	gene with protein product	"""vacuolar ATP synthase subunit H"""	608861	"""ATPase, H+ transporting, lysosomal 50/57kD, V1 subunit H"""			9620685, 10810093	Standard	NM_015941		Approved	CGI-11, SFD, VMA13, SFDalpha, SFDbeta	uc003xrm.4	Q9UI12	OTTHUMG00000164231	ENST00000359530.2:c.1195G>T	8.37:g.54669197C>A	ENSP00000352522:p.Glu399*					ATP6V1H_uc003xrk.2_Nonsense_Mutation_p.E359*|ATP6V1H_uc003xrm.2_Nonsense_Mutation_p.E399*|ATP6V1H_uc003xrn.2_Nonsense_Mutation_p.E381*|ATP6V1H_uc011ldv.1_Nonsense_Mutation_p.E319*|ATP6V1H_uc010lyd.2_Nonsense_Mutation_p.E335*	p.E399*	NM_213620	NP_998785	Q9UI12	VATH_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)		12	1347	-		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	399					B3KMR0|Q6PK44|Q9H3E3|Q9Y300	Nonsense_Mutation	SNP	ENST00000359530.2	37	c.1195G>T	CCDS6153.1	.	.	.	.	.	.	.	.	.	.	C	39	7.687497	0.98434	.	.	ENSG00000047249	ENST00000355221;ENST00000520188;ENST00000359530;ENST00000396774	.	.	.	5.63	5.63	0.86233	.	0.100289	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-24.8406	18.4556	0.90720	0.0:1.0:0.0:0.0	.	.	.	.	X	381;359;399;399	.	ENSP00000347359:E381X	E	-	1	0	ATP6V1H	54831750	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.137000	0.77295	2.651000	0.90000	0.650000	0.86243	GAA		0.378	ATP6V1H-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377865.1	NM_015941		9	53	1	0	0.000274275	0.000299902	9	53				
XKR4	114786	broad.mit.edu	37	8	56015496	56015496	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:56015496T>C	ENST00000327381.6	+	1	548	c.448T>C	c.(448-450)Ttc>Ctc	p.F150L		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	150						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			GCTCACGCTCTTCTTCGTGGT	0.662																																						uc003xsf.2		NA																	0				pancreas(2)	2						c.(448-450)TTC>CTC		XK, Kell blood group complex subunit-related							60.0	43.0	49.0					8																	56015496		2202	4299	6501	SO:0001583	missense	114786					integral to membrane		g.chr8:56015496T>C	AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.448T>C	8.37:g.56015496T>C	ENSP00000328326:p.Phe150Leu						p.F150L	NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Epithelial(17;0.000117)|all cancers(17;0.000836)		1	480	+			150			Helical; (Potential).		Q96PZ8	Missense_Mutation	SNP	ENST00000327381.6	37	c.448T>C	CCDS34893.1	.	.	.	.	.	.	.	.	.	.	T	17.65	3.441531	0.63067	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	T	0.60920	0.15	5.48	4.3	0.51218	.	0.067032	0.64402	D	0.000010	T	0.41328	0.1154	N	0.26042	0.785	0.45930	D	0.998764	P	0.38617	0.64	B	0.36567	0.228	T	0.13361	-1.0512	10	0.18276	T	0.48	-8.4139	11.6918	0.51521	0.1328:0.0:0.0:0.8672	.	150	Q5GH76	XKR4_HUMAN	L	150	ENSP00000328326:F150L	ENSP00000328326:F150L	F	+	1	0	XKR4	56178050	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.680000	0.68168	0.880000	0.35969	0.477000	0.44152	TTC		0.662	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		13	59	0	0	0	0	13	59				
CLVS1	157807	broad.mit.edu	37	8	62212769	62212769	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:62212769G>C	ENST00000519846.1	+	3	855	c.383G>C	c.(382-384)gGg>gCg	p.G128A	RP11-787D18.1_ENST00000518064.1_RNA|CLVS1_ENST00000325897.4_Missense_Mutation_p.G128A|RP11-787D18.1_ENST00000521801.1_RNA|CLVS1_ENST00000518592.1_Intron			Q8IUQ0	CLVS1_HUMAN	clavesin 1	128	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GGGTTCCCCGGGGTGCTGGAA	0.478																																						uc003xuh.2		NA																	0				skin(4)|ovary(1)	5						c.(382-384)GGG>GCG		retinaldehyde binding protein 1-like 1							44.0	46.0	46.0					8																	62212769		2203	4299	6502	SO:0001583	missense	157807				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr8:62212769G>C	AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"""retinaldehyde binding protein 1-like 1"""	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.383G>C	8.37:g.62212769G>C	ENSP00000428402:p.Gly128Ala					CLVS1_uc003xug.2_Missense_Mutation_p.G128A|CLVS1_uc003xui.2_Intron|CLVS1_uc010lyp.2_Missense_Mutation_p.G128A	p.G128A	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN			2	707	+			128			CRAL-TRIO.		B2R7M5|C8UZT3|Q8NB32	Missense_Mutation	SNP	ENST00000519846.1	37	c.383G>C	CCDS6176.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.285662	0.80803	.	.	ENSG00000177182	ENST00000519846;ENST00000325897	D;D	0.84298	-1.83;-1.83	5.6	5.6	0.85130	Cellular retinaldehyde-binding/triple function, C-terminal (4);	0.103133	0.64402	D	0.000003	D	0.89626	0.6769	L	0.46157	1.445	0.80722	D	1	P;D	0.60575	0.774;0.988	P;D	0.64410	0.474;0.925	D	0.87882	0.2678	9	.	.	.	-6.8293	19.6296	0.95694	0.0:0.0:1.0:0.0	.	128;128	Q8IUQ0;Q8IUQ0-2	CLVS1_HUMAN;.	A	128	ENSP00000428402:G128A;ENSP00000325506:G128A	.	G	+	2	0	CLVS1	62375323	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	9.869000	0.99810	2.644000	0.89710	0.655000	0.94253	GGG		0.478	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378323.1	NM_173519		33	56	0	0	0	0	33	56				
RUNX1T1	862	broad.mit.edu	37	8	93029586	93029586	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:93029586T>A	ENST00000523629.1	-	3	548	c.94A>T	c.(94-96)Act>Tct	p.T32S	RUNX1T1_ENST00000436581.2_Missense_Mutation_p.T43S|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.T32S|RUNX1T1_ENST00000521553.1_5'UTR|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.T5S|RUNX1T1_ENST00000522163.1_5'UTR|RUNX1T1_ENST00000422361.2_5'UTR|RUNX1T1_ENST00000520724.1_5'UTR|RUNX1T1_ENST00000360348.2_5'UTR|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.T5S	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	32					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TGCTTCTCAGTACGATCTGGA	0.458																																						uc003yfd.2		NA																	0				lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16						c.(94-96)ACT>TCT		acute myelogenous leukemia 1 translocation 1							149.0	122.0	131.0					8																	93029586		2203	4300	6503	SO:0001583	missense	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:93029586T>A	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.94A>T	8.37:g.93029586T>A	ENSP00000428543:p.Thr32Ser					RUNX1T1_uc003yfc.1_Missense_Mutation_p.T5S|RUNX1T1_uc003yfe.1_5'UTR|RUNX1T1_uc010mao.2_Missense_Mutation_p.T5S|RUNX1T1_uc011lgi.1_Missense_Mutation_p.T43S|RUNX1T1_uc003yfh.1_5'UTR|RUNX1T1_uc003yfb.1_5'UTR|RUNX1T1_uc003yff.1_5'UTR|RUNX1T1_uc003yfg.1_5'UTR	p.T32S	NM_175634	NP_783552	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		2	178	-			32					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.94A>T	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	T	13.93	2.383966	0.42308	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000436581;ENST00000518844;ENST00000518992;ENST00000519847;ENST00000522467;ENST00000517919;ENST00000521733;ENST00000520583;ENST00000523168;ENST00000518823;ENST00000518317;ENST00000521375;ENST00000520974;ENST00000518954;ENST00000519061;ENST00000520428	T;T;T;T;T;T	0.41758	1.58;1.57;1.58;1.58;1.57;0.99	5.86	4.68	0.58851	.	0.048580	0.85682	D	0.000000	T	0.25306	0.0615	N	0.14661	0.345	0.44395	D	0.997307	B;B;B	0.14012	0.009;0.0;0.007	B;B;B	0.14578	0.011;0.0;0.006	T	0.04961	-1.0915	10	0.12766	T	0.61	-7.1543	13.3967	0.60858	0.0:0.0:0.1312:0.8688	.	43;32;5	E7EPN4;Q06455;Q06455-2	.;MTG8_HUMAN;.	S	32;5;32;43;5;32;32;32;32;5;32;32;5;5;32;32;32;5;32	ENSP00000428543:T32S;ENSP00000379520:T5S;ENSP00000265814:T32S;ENSP00000402257:T43S;ENSP00000430728:T5S;ENSP00000431094:T32S	ENSP00000265814:T32S	T	-	1	0	RUNX1T1	93098762	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.715000	0.61909	1.113000	0.41760	0.528000	0.53228	ACT		0.458	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		13	92	0	0	0	0	13	92				
PKHD1L1	93035	broad.mit.edu	37	8	110448575	110448575	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:110448575C>G	ENST00000378402.5	+	30	3618	c.3514C>G	c.(3514-3516)Cta>Gta	p.L1172V		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1172	IPT/TIG 5.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGGTGGTACTCTACTGACTTT	0.308										HNSCC(38;0.096)																												uc003yne.2		NA																	0				ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(3514-3516)CTA>GTA		fibrocystin L precursor							94.0	93.0	94.0					8																	110448575		1831	4099	5930	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110448575C>G	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.3514C>G	8.37:g.110448575C>G	ENSP00000367655:p.Leu1172Val	HNSCC(38;0.096)					p.L1172V	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		30	3618	+			1172			Extracellular (Potential).|IPT/TIG 5.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.3514C>G	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	3.427	-0.116901	0.06838	.	.	ENSG00000205038	ENST00000378402	T	0.77098	-1.07	5.44	3.57	0.40892	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.202343	0.32578	N	0.005909	T	0.64843	0.2635	L	0.43152	1.355	0.23238	N	0.998068	B	0.06786	0.001	B	0.13407	0.009	T	0.45323	-0.9269	10	0.12430	T	0.62	.	7.7641	0.28970	0.0:0.7474:0.1627:0.0899	.	1172	Q86WI1	PKHL1_HUMAN	V	1172	ENSP00000367655:L1172V	ENSP00000367655:L1172V	L	+	1	2	PKHD1L1	110517751	0.616000	0.27035	0.998000	0.56505	0.792000	0.44763	-0.255000	0.08769	1.237000	0.43756	0.655000	0.94253	CTA		0.308	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		10	89	0	0	0	0	10	89				
PKHD1L1	93035	broad.mit.edu	37	8	110535590	110535590	+	Silent	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:110535590C>T	ENST00000378402.5	+	76	12563	c.12459C>T	c.(12457-12459)taC>taT	p.Y4153Y		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	4153					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGGCCAACTACACAGACCTTA	0.393										HNSCC(38;0.096)																												uc003yne.2		NA																	0				ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(12457-12459)TAC>TAT		fibrocystin L precursor							141.0	133.0	136.0					8																	110535590		1903	4122	6025	SO:0001819	synonymous_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110535590C>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.12459C>T	8.37:g.110535590C>T		HNSCC(38;0.096)					p.Y4153Y	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		76	12563	+			4153			Extracellular (Potential).		Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	c.12459C>T	CCDS47911.1																																																																																				0.393	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		58	75	0	0	0	0	58	75				
CSMD3	114788	broad.mit.edu	37	8	113599296	113599296	+	Splice_Site	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:113599296T>A	ENST00000297405.5	-	23	4128	c.3884A>T	c.(3883-3885)aAg>aTg	p.K1295M	CSMD3_ENST00000343508.3_Splice_Site_p.K1255M|CSMD3_ENST00000455883.2_Splice_Site_p.K1191M|CSMD3_ENST00000352409.3_Splice_Site_p.K1295M	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1295	CUB 7. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTCACCTACCTTAAGAACATC	0.289										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(3883-3885)AAG>ATG		CUB and Sushi multiple domains 3 isoform 1							101.0	92.0	95.0					8																	113599296		2203	4299	6502	SO:0001630	splice_region_variant	114788					integral to membrane|plasma membrane		g.chr8:113599296T>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.3885+1A>T	8.37:g.113599296T>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.K567M|CSMD3_uc003ynt.2_Missense_Mutation_p.K1255M|CSMD3_uc011lhx.1_Missense_Mutation_p.K1191M	p.K1295M	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			23	4043	-			1295			Extracellular (Potential).|CUB 7.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.3884A>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.063320	0.76187	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.19532	2.14;2.14;2.14;2.14;2.14	4.19	4.19	0.49359	CUB (5);	0.000000	0.85682	D	0.000000	T	0.46444	0.1393	M	0.79614	2.46	0.39351	D	0.965751	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.52320	-0.8591	10	0.51188	T	0.08	.	13.7102	0.62663	0.0:0.0:0.0:1.0	.	1191;1295;1255	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	M	1255;1295;635;1191;1295	ENSP00000345799:K1255M;ENSP00000297405:K1295M;ENSP00000341558:K635M;ENSP00000412263:K1191M;ENSP00000343124:K1295M	ENSP00000297405:K1295M	K	-	2	0	CSMD3	113668472	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.706000	0.84615	1.887000	0.54652	0.482000	0.46254	AAG		0.289	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	Missense_Mutation	67	57	0	0	0	0	67	57				
EIF3H	8667	broad.mit.edu	37	8	117658759	117658759	+	Silent	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:117658759G>C	ENST00000276682.4	-	9	1720	c.954C>G	c.(952-954)ctC>ctG	p.L318L	EIF3H_ENST00000521861.1_Silent_p.L304L					eukaryotic translation initiation factor 3, subunit H											large_intestine(2)|lung(10)|skin(1)	13	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)					GTGGTTTGAAGAGTTTGGACA	0.542																																						uc003yoa.2		NA																	0				lung(3)	3						c.(910-912)CTC>CTG		eukaryotic translation initiation factor 3,							153.0	163.0	159.0					8																	117658759		2203	4300	6503	SO:0001819	synonymous_variant	8667				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr8:117658759G>C	U54559	CCDS6319.1	8q24.11	2007-07-27	2007-07-27	2007-07-27	ENSG00000147677	ENSG00000147677			3273	protein-coding gene	gene with protein product		603912	"""eukaryotic translation initiation factor 3, subunit 3 gamma, 40kDa"""	EIF3S3		9341143	Standard	NM_003756		Approved	eIF3-gamma, eIF3-p40, eIF3h	uc003yoa.3	O15372	OTTHUMG00000164919	ENST00000276682.4:c.954C>G	8.37:g.117658759G>C						EIF3H_uc003yob.2_Silent_p.L318L	p.L304L	NM_003756	NP_003747	O15372	EIF3H_HUMAN			7	938	-	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)		304						Silent	SNP	ENST00000276682.4	37	c.912C>G																																																																																					0.542	EIF3H-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000380913.1	NM_003756		54	357	0	0	0	0	54	357				
SNTB1	6641	broad.mit.edu	37	8	121823957	121823957	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:121823957C>A	ENST00000395601.3	-	2	541	c.127G>T	c.(127-129)Gag>Tag	p.E43*	RP11-713M15.2_ENST00000605955.1_RNA|SNTB1_ENST00000517992.1_Nonsense_Mutation_p.E43*|SNTB1_ENST00000519177.1_5'Flank	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	43	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|protein complex (GO:0043234)|synapse (GO:0045202)				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			AGGGCGTCCTCGCTCAAGTTC	0.706																																						uc010mdg.2		NA																	0				skin(5)	5						c.(127-129)GAG>TAG		basic beta 1 syntrophin							26.0	23.0	24.0					8																	121823957		2161	4239	6400	SO:0001587	stop_gained	6641				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding	g.chr8:121823957C>A	AF028828	CCDS6334.1	8q23-q24	2013-01-10	2002-08-29		ENSG00000172164	ENSG00000172164		"""Pleckstrin homology (PH) domain containing"""	11168	protein-coding gene	gene with protein product	"""tax interaction protein 43"""	600026	"""syntrophin, beta 1 (dystrophin-associated protein A1, 59kD, basic component 1)"""	SNT2B1		8183929, 9482110	Standard	NM_021021		Approved	59-DAP, A1B, BSYN2, TIP-43, SNT2	uc010mdg.3	Q13884	OTTHUMG00000165041	ENST00000395601.3:c.127G>T	8.37:g.121823957C>A	ENSP00000378965:p.Glu43*					SNTB1_uc003ype.2_Nonsense_Mutation_p.E43*	p.E43*	NM_021021	NP_066301	Q13884	SNTB1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		1	353	-	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		43			PH 1.		A8K9E0|O14912|Q4KMG8	Nonsense_Mutation	SNP	ENST00000395601.3	37	c.127G>T	CCDS6334.1	.	.	.	.	.	.	.	.	.	.	C	40	8.204798	0.98704	.	.	ENSG00000172164	ENST00000395601;ENST00000517992	.	.	.	4.89	3.95	0.45737	.	0.269702	0.36101	N	0.002793	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	14.2265	0.65863	0.0:0.8494:0.1505:0.0	.	.	.	.	X	43	.	ENSP00000378965:E43X	E	-	1	0	SNTB1	121893138	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.138000	0.58017	2.236000	0.73375	0.561000	0.74099	GAG		0.706	SNTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381535.1	NM_021021		3	60	1	0	0.00024832	0.000272669	3	60				
TG	7038	broad.mit.edu	37	8	134031938	134031938	+	Missense_Mutation	SNP	G	G	A	rs114404536		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:134031938G>A	ENST00000220616.4	+	39	6914	c.6874G>A	c.(6874-6876)Gtg>Atg	p.V2292M	TG_ENST00000519543.1_Missense_Mutation_p.V425M|TG_ENST00000377869.1_Missense_Mutation_p.V2235M|TG_ENST00000542445.1_Missense_Mutation_p.V662M	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2292					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)				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)		CCCTCAGAATGTGGTGAGTTC	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		22063	0.001		0.0	False		,,,				2504	0.0					uc003ytw.2		NA																	0				ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(6874-6876)GTG>ATG		thyroglobulin precursor							208.0	166.0	180.0					8																	134031938		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:134031938G>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.6874G>A	8.37:g.134031938G>A	ENSP00000220616:p.Val2292Met					TG_uc010mdw.2_Missense_Mutation_p.V1051M|TG_uc011ljb.1_Missense_Mutation_p.V661M|TG_uc011ljc.1_Missense_Mutation_p.V425M	p.V2292M	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	39	6915	+	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)	2292					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.6874G>A	CCDS34944.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	G|G	6.730|6.730	0.503484|0.503484	0.12822|0.12822	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000519178;ENST00000518108|ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543	.|T;T;T;T	.|0.67345	.|-0.26;-0.26;-0.26;-0.26	4.77|4.77	-3.27|-3.27	0.05048|0.05048	.|Carboxylesterase, type B (1);	.|1.558740	.|0.03535	.|N	.|0.222958	T|T	0.58764|0.58764	0.2145|0.2145	L|L	0.43923|0.43923	1.385|1.385	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.32365	.|0.195;0.027;0.367	.|B;B;B	.|0.36766	.|0.076;0.017;0.232	T|T	0.51803|0.51803	-0.8659|-0.8659	5|10	.|0.41790	.|T	.|0.15	.|.	7.0114|7.0114	0.24865|0.24865	0.2861:0.5142:0.1997:0.0|0.2861:0.5142:0.1997:0.0	.|.	.|425;662;2292	.|E7EVM0;F5GWW5;P01266	.|.;.;THYG_HUMAN	Y|M	747;87|2235;1098;2292;662;425	.|ENSP00000367100:V2235M;ENSP00000220616:V2292M;ENSP00000441693:V662M;ENSP00000430430:V425M	.|ENSP00000220616:V2292M	C|V	+|+	2|1	0|0	TG|TG	134101120|134101120	0.000000|0.000000	0.05858|0.05858	0.009000|0.009000	0.14445|0.14445	0.299000|0.299000	0.27559|0.27559	-0.489000|-0.489000	0.06490|0.06490	-0.414000|-0.414000	0.07495|0.07495	-0.140000|-0.140000	0.14226|0.14226	TGT|GTG		0.512	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		14	96	0	0	0	0	14	96				
FAM135B	51059	broad.mit.edu	37	8	139158221	139158221	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:139158221A>G	ENST00000395297.1	-	15	3691	c.3521T>C	c.(3520-3522)cTa>cCa	p.L1174P		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1174										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTCAGACATTAGGAAGTCCAG	0.433										HNSCC(54;0.14)																												uc003yuy.2		NA																	0				ovary(7)|skin(2)	9						c.(3520-3522)CTA>CCA		hypothetical protein LOC51059							83.0	86.0	85.0					8																	139158221		2203	4300	6503	SO:0001583	missense	51059							g.chr8:139158221A>G	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.3521T>C	8.37:g.139158221A>G	ENSP00000378710:p.Leu1174Pro	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.L1075P|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.L736P|FAM135B_uc003yvb.2_Silent_p.P701P	p.L1174P	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		15	3692	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1174					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.3521T>C	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	A	20.9	4.068757	0.76301	.	.	ENSG00000147724	ENST00000395297	T	0.47177	0.85	5.61	5.61	0.85477	Domain of unknown function DUF676, lipase-like (1);	0.000000	0.64402	D	0.000016	T	0.74997	0.3790	M	0.91038	3.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81093	-0.1089	9	.	.	.	-9.1284	14.9716	0.71238	1.0:0.0:0.0:0.0	.	1174;1174	Q49AJ0-4;Q49AJ0	.;F135B_HUMAN	P	1174	ENSP00000378710:L1174P	.	L	-	2	0	FAM135B	139227403	1.000000	0.71417	0.769000	0.31535	0.871000	0.50021	9.336000	0.96533	2.132000	0.65825	0.533000	0.62120	CTA		0.433	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		42	132	0	0	0	0	42	132				
COL22A1	169044	broad.mit.edu	37	8	139833581	139833581	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:139833581C>A	ENST00000303045.6	-	7	1489	c.1043G>T	c.(1042-1044)aGg>aTg	p.R348M	COL22A1_ENST00000435777.1_Missense_Mutation_p.R348M	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	348	Laminin G-like.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GAAGACCACCCTGACAGCATC	0.572										HNSCC(7;0.00092)																												uc003yvd.2		NA																	0				ovary(11)|pancreas(1)|skin(1)	13						c.(1042-1044)AGG>ATG		collagen, type XXII, alpha 1							151.0	146.0	148.0					8																	139833581		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139833581C>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.1043G>T	8.37:g.139833581C>A	ENSP00000303153:p.Arg348Met	HNSCC(7;0.00092)					p.R348M	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		7	1490	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		348			TSP N-terminal.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.1043G>T	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.991776	0.74703	.	.	ENSG00000169436	ENST00000303045;ENST00000435777	T;T	0.14516	2.5;2.5	5.21	5.21	0.72293	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.53938	D	0.000048	T	0.31136	0.0787	M	0.64997	1.995	0.53005	D	0.999969	D	0.89917	1.0	D	0.68192	0.956	T	0.00581	-1.1660	9	.	.	.	.	11.6401	0.51228	0.0:0.9187:0.0:0.0813	.	348	Q8NFW1	COMA1_HUMAN	M	348	ENSP00000303153:R348M;ENSP00000387655:R348M	.	R	-	2	0	COL22A1	139902763	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	4.681000	0.61663	2.616000	0.88540	0.558000	0.71614	AGG		0.572	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		44	240	1	0	1.97e-11	2.54e-11	44	240				
PUF60	22827	broad.mit.edu	37	8	144900183	144900183	+	Silent	SNP	T	T	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:144900183T>G	ENST00000526683.1	-	8	1221	c.666A>C	c.(664-666)gcA>gcC	p.A222A	PUF60_ENST00000527197.1_Silent_p.A176A|SCRIB_ENST00000356994.2_5'Flank|PUF60_ENST00000349157.6_Silent_p.A205A|PUF60_ENST00000524570.1_5'UTR|SCRIB_ENST00000320476.3_5'Flank|PUF60_ENST00000453551.2_Silent_p.A179A|PUF60_ENST00000456095.2_Silent_p.A193A|PUF60_ENST00000313352.7_Silent_p.A162A	NM_001271098.1|NM_078480.2	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	222	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.				apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TGAAGGCCCGTGCCTCCTCAG	0.587																																						uc003yzs.2		NA																	0					0						c.(664-666)GCA>GCC		poly-U binding splicing factor 60KDa isoform a							56.0	59.0	58.0					8																	144900183		2134	4228	6362	SO:0001819	synonymous_variant	22827				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding	g.chr8:144900183T>G	AF114818	CCDS47933.1, CCDS47934.1, CCDS47935.1, CCDS59514.1, CCDS59515.1, CCDS59516.1	8q24.3	2013-02-12	2007-07-27		ENSG00000179950	ENSG00000179950		"""RNA binding motif (RRM) containing"""	17042	protein-coding gene	gene with protein product	"""siah binding protein 1"", ""FBP interacting repressor"", ""pyrimidine tract binding splicing factor"", ""Ro ribonucleoprotein binding protein 1"""	604819				10668799, 10882074, 17579712	Standard	NM_078480		Approved	FIR, SIAHBP1, RoBPI	uc003yzs.4	Q9UHX1	OTTHUMG00000165155	ENST00000526683.1:c.666A>C	8.37:g.144900183T>G						SCRIB_uc003yzo.1_5'Flank|SCRIB_uc003yzp.1_5'Flank|PUF60_uc003yzr.2_Silent_p.A162A|PUF60_uc003yzt.2_Silent_p.A205A|PUF60_uc003yzq.2_Silent_p.A179A|PUF60_uc003yzu.1_Silent_p.A211A	p.A222A	NM_078480	NP_510965	Q9UHX1	PUF60_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		8	730	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		222			Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.		A8K8K8|Q969E7|Q96D94|Q96H63|Q99628|Q9NZA0|Q9UJY7	Silent	SNP	ENST00000526683.1	37	c.666A>C	CCDS47934.1	.	.	.	.	.	.	.	.	.	.	T	8.016	0.758665	0.15846	.	.	ENSG00000179950	ENST00000527744	.	.	.	4.62	-9.24	0.00669	.	.	.	.	.	T	0.36193	0.0958	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43653	-0.9378	4	.	.	.	.	3.4741	0.07578	0.2299:0.4343:0.1144:0.2214	.	.	.	.	P	220	.	.	H	-	2	0	PUF60	144972171	0.000000	0.05858	0.483000	0.27378	0.992000	0.81027	-3.073000	0.00617	-2.810000	0.00348	-0.290000	0.09829	CAC		0.587	PUF60-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382222.1	NM_014281		5	43	0	0	0	0	5	43				
PLEC	5339	broad.mit.edu	37	8	144994359	144994359	+	Silent	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:144994359C>G	ENST00000322810.4	-	32	10210	c.10041G>C	c.(10039-10041)ctG>ctC	p.L3347L	PLEC_ENST00000527096.1_Silent_p.L3233L|PLEC_ENST00000436759.2_Silent_p.L3237L|PLEC_ENST00000354958.2_Silent_p.L3188L|PLEC_ENST00000357649.2_Silent_p.L3214L|PLEC_ENST00000354589.3_Silent_p.L3210L|PLEC_ENST00000398774.2_Silent_p.L3178L|PLEC_ENST00000345136.3_Silent_p.L3210L|PLEC_ENST00000356346.3_Silent_p.L3196L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3347	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTGAGAGCGGCAGCAGGCTCA	0.682																																						uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(10039-10041)CTG>CTC		plectin isoform 1							10.0	12.0	11.0					8																	144994359		1846	4020	5866	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144994359C>G	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.10041G>C	8.37:g.144994359C>G						PLEC_uc003zab.1_Silent_p.L3210L|PLEC_uc003zac.1_Silent_p.L3214L|PLEC_uc003zad.2_Silent_p.L3210L|PLEC_uc003zae.1_Silent_p.L3178L|PLEC_uc003zag.1_Silent_p.L3188L|PLEC_uc003zah.2_Silent_p.L3196L|PLEC_uc003zaj.2_Silent_p.L3237L	p.L3347L	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	10211	-			3347			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.10041G>C	CCDS43772.1																																																																																				0.682	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		5	45	0	0	0	0	5	45				
PARP10	84875	broad.mit.edu	37	8	145058522	145058522	+	Silent	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:145058522C>A	ENST00000313028.7	-	6	1630	c.1536G>T	c.(1534-1536)gtG>gtT	p.V512V	PARP10_ENST00000525773.1_Silent_p.V524V|PARP10_ENST00000533665.1_5'Flank|PARP10_ENST00000524918.1_Silent_p.V512V	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	512					negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCAGGCACAACACATGGCAGC	0.637																																						uc003zal.3		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)|pancreas(1)	6						c.(1534-1536)GTG>GTT		poly (ADP-ribose) polymerase family, member 10							31.0	34.0	33.0					8																	145058522		2203	4300	6503	SO:0001819	synonymous_variant	84875					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding	g.chr8:145058522C>A	AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"""Poly (ADP-ribose) polymerases"""	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000313028.7:c.1536G>T	8.37:g.145058522C>A						PARP10_uc003zak.3_Silent_p.V218V|PARP10_uc011lku.1_Silent_p.V524V|PARP10_uc011lkv.1_RNA|PARP10_uc003zam.2_Silent_p.V512V	p.V512V	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		6	1644	-	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		512					Q8N2I0|Q8WV05|Q96CH7|Q96K72	Silent	SNP	ENST00000313028.7	37	c.1536G>T	CCDS34960.1																																																																																				0.637	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383866.1	NM_032789		30	88	1	0	2.61e-14	3.47e-14	30	88				
MFSD3	113655	broad.mit.edu	37	8	145738813	145738813	+	IGR	SNP	C	C	A	rs559066300		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:145738813C>A	ENST00000301327.4	+	0	1548				RECQL4_ENST00000532237.1_5'UTR|RECQL4_ENST00000428558.2_Missense_Mutation_p.R751L|CTD-2517M22.17_ENST00000580385.1_RNA	NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CCGCCGTTCCCGGCTGCACAT	0.672																																						uc003zdj.2		NA								N|F|S						osteosarcoma|skin basal and sqamous cell			0				breast(2)|lung(1)|skin(1)	4						c.(2251-2253)CGG>CTG	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	RecQ protein-like 4							19.0	24.0	23.0					8																	145738813		2090	4190	6280	SO:0001628	intergenic_variant	9401	RAPADILINO_syndrome|Rothmund-Thomson_syndrome|Baller-Gerold_syndrome			DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding	g.chr8:145738813C>A		CCDS6431.1	8q24.3	2005-11-17			ENSG00000167700	ENSG00000167700			25157	protein-coding gene	gene with protein product							Standard	NM_138431		Approved		uc003zdi.1	Q96ES6	OTTHUMG00000165177		8.37:g.145738813C>A							p.R751L	NM_004260	NP_004251	O94761	RECQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		14	2284	-	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		751			Helicase C-terminal.			Missense_Mutation	SNP	ENST00000301327.4	37	c.2252G>T	CCDS6431.1																																																																																				0.672	MFSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382478.2	NM_138431		16	30	1	0	4.97e-08	6.02e-08	16	30				
CCDC171	203238	broad.mit.edu	37	9	15695323	15695323	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr9:15695323C>A	ENST00000380701.3	+	11	1634	c.1306C>A	c.(1306-1308)Cag>Aag	p.Q436K	CCDC171_ENST00000297641.3_Missense_Mutation_p.Q436K	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	436																	TGTGTCGGGCCAGTGGACATC	0.413																																						uc003zmd.2		NA																	0					0						c.(1306-1308)CAG>AAG		hypothetical protein LOC203238							151.0	138.0	142.0					9																	15695323		2203	4300	6503	SO:0001583	missense	203238							g.chr9:15695323C>A	AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"""myosin tail domain containing protein"""		"""chromosome 9 open reading frame 93"""	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.1306C>A	9.37:g.15695323C>A	ENSP00000370077:p.Gln436Lys					C9orf93_uc010mih.1_Missense_Mutation_p.Q436K|C9orf93_uc003zme.2_Missense_Mutation_p.Q343K|C9orf93_uc011lmu.1_Missense_Mutation_p.Q436K	p.Q436K	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN		GBM - Glioblastoma multiforme(50;4.84e-07)	11	1621	+			436					B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Missense_Mutation	SNP	ENST00000380701.3	37	c.1306C>A	CCDS6481.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.564278	0.65651	.	.	ENSG00000164989	ENST00000297641;ENST00000380701	T;T	0.48836	0.8;0.8	5.75	4.8	0.61643	.	0.308092	0.36303	N	0.002667	T	0.44414	0.1292	N	0.24115	0.695	0.80722	D	1	P;P;P	0.51147	0.942;0.942;0.942	P;P;P	0.49953	0.627;0.543;0.627	T	0.31308	-0.9948	10	0.38643	T	0.18	-12.303	16.2401	0.82402	0.0:0.8672:0.1328:0.0	.	436;436;436	B7ZM22;Q6TFL3-3;Q6TFL3	.;.;CI093_HUMAN	K	436	ENSP00000297641:Q436K;ENSP00000370077:Q436K	ENSP00000297641:Q436K	Q	+	1	0	C9orf93	15685323	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.696000	0.61774	2.716000	0.92895	0.591000	0.81541	CAG		0.413	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550		58	47	1	0	6.27e-30	9.2e-30	58	47				
PGM5	5239	broad.mit.edu	37	9	71094402	71094402	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr9:71094402C>T	ENST00000396396.1	+	8	1457	c.1228C>T	c.(1228-1230)Cgg>Tgg	p.R410W		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	410					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						TATTGCTGCCCGGAAGCAGAG	0.527																																						uc004agr.2		NA																	0		p.R410Q(1)		ovary(1)|pancreas(1)	2						c.(1228-1230)CGG>TGG		phosphoglucomutase 5							115.0	117.0	116.0					9																	71094402		2203	4300	6503	SO:0001583	missense	5239				cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	g.chr9:71094402C>T	L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"""phosphoglucomutase-related protein"""	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.1228C>T	9.37:g.71094402C>T	ENSP00000379678:p.Arg410Trp						p.R410W	NM_021965	NP_068800	Q15124	PGM5_HUMAN			8	1457	+			410					B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Missense_Mutation	SNP	ENST00000396396.1	37	c.1228C>T	CCDS6622.2	.	.	.	.	.	.	.	.	.	.	C	21.5	4.157666	0.78114	.	.	ENSG00000154330	ENST00000396396	T	0.45668	0.89	5.49	4.54	0.55810	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);Alpha-D-phosphohexomutase, alpha/beta/alpha domain III (1);	0.057554	0.64402	D	0.000002	T	0.73768	0.3629	H	0.95151	3.63	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.81716	-0.0806	10	0.72032	D	0.01	.	15.1844	0.72989	0.141:0.859:0.0:0.0	.	410	Q15124	PGM5_HUMAN	W	410	ENSP00000379678:R410W	ENSP00000379678:R410W	R	+	1	2	PGM5	70284222	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.952000	0.40343	2.739000	0.93911	0.563000	0.77884	CGG		0.527	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052548.2	NM_021965		43	250	0	0	0	0	43	250				
TMEM2	23670	broad.mit.edu	37	9	74332976	74332976	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr9:74332976C>A	ENST00000377044.4	-	13	2826	c.2287G>T	c.(2287-2289)Gca>Tca	p.A763S	TMEM2_ENST00000377066.5_Missense_Mutation_p.A700S	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	763					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		TCGGGGTTTGCATCCTGATGA	0.348																																						uc011lsa.1		NA																	0				ovary(2)	2						c.(2287-2289)GCA>TCA		transmembrane protein 2 isoform a							84.0	85.0	85.0					9																	74332976		2203	4300	6503	SO:0001583	missense	23670					integral to membrane		g.chr9:74332976C>A		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.2287G>T	9.37:g.74332976C>A	ENSP00000366243:p.Ala763Ser					TMEM2_uc010mos.2_Missense_Mutation_p.A700S|TMEM2_uc011lsb.1_RNA	p.A763S	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	13	2827	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	763					A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	c.2287G>T	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.762280	0.49468	.	.	ENSG00000135048	ENST00000377044;ENST00000377066	T;T	0.57273	0.41;0.41	5.47	3.6	0.41247	Pectin lyase fold/virulence factor (1);	0.343540	0.33457	N	0.004888	T	0.42630	0.1211	L	0.39397	1.21	0.80722	D	1	B;B	0.24533	0.064;0.105	B;B	0.30943	0.035;0.122	T	0.21143	-1.0254	10	0.19147	T	0.46	.	10.8527	0.46780	0.1293:0.8022:0.0:0.0685	.	763;700	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	S	763;700	ENSP00000366243:A763S;ENSP00000366266:A700S	ENSP00000366243:A763S	A	-	1	0	TMEM2	73522796	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.950000	0.40323	1.304000	0.44892	0.558000	0.71614	GCA		0.348	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		100	94	1	0	1.07e-64	1.64e-64	100	94				
PRUNE2	158471	broad.mit.edu	37	9	79325172	79325172	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr9:79325172G>T	ENST00000376718.3	-	8	2141	c.2018C>A	c.(2017-2019)tCc>tAc	p.S673Y	PRUNE2_ENST00000428286.1_Missense_Mutation_p.S314Y	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	673					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						CTGTTCACTGGAACTCCACGC	0.493																																						uc010mpk.2		NA																	0					0						c.(2017-2019)TCC>TAC		prune homolog 2							60.0	55.0	57.0					9																	79325172		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79325172G>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.2018C>A	9.37:g.79325172G>T	ENSP00000365908:p.Ser673Tyr						p.S673Y	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			8	2142	-			673					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.2018C>A	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.456472	0.63401	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.24908	1.83;1.83	5.86	5.86	0.93980	.	0.000000	0.51477	D	0.000099	T	0.52008	0.1708	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.69142	0.962	T	0.49916	-0.8888	10	0.87932	D	0	-11.5893	20.1802	0.98196	0.0:0.0:1.0:0.0	.	673	Q8WUY3	PRUN2_HUMAN	Y	673;314;672	ENSP00000365908:S673Y;ENSP00000397425:S314Y	ENSP00000365908:S673Y	S	-	2	0	PRUNE2	78514992	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	4.036000	0.57304	2.777000	0.95525	0.655000	0.94253	TCC		0.493	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		72	57	1	0	2.85e-26	4.13e-26	72	57				
SPATA31D1	389763	broad.mit.edu	37	9	84607717	84607717	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr9:84607717G>T	ENST00000344803.2	+	4	2379	c.2332G>T	c.(2332-2334)Gag>Tag	p.E778*		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	778					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											ATACAGCCAGGAGACTGTCCC	0.468																																						uc004amn.2		NA																	0					0						c.(2332-2334)GAG>TAG		hypothetical protein LOC389763							100.0	91.0	94.0					9																	84607717		1898	4118	6016	SO:0001587	stop_gained	389763					integral to membrane		g.chr9:84607717G>T		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2332G>T	9.37:g.84607717G>T	ENSP00000341988:p.Glu778*						p.E778*	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			4	2379	+			778						Nonsense_Mutation	SNP	ENST00000344803.2	37	c.2332G>T	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	G	31	5.059958	0.93846	.	.	ENSG00000214929	ENST00000344803	.	.	.	2.85	1.93	0.25924	.	0.845492	0.10272	N	0.694649	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-1.1274	5.8587	0.18734	0.152:0.0:0.848:0.0	.	.	.	.	X	778	.	ENSP00000341988:E778X	E	+	1	0	FAM75D1	83797537	0.002000	0.14202	0.001000	0.08648	0.009000	0.06853	0.933000	0.28897	0.761000	0.33130	0.462000	0.41574	GAG		0.468	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		28	156	1	0	6.07e-21	8.54e-21	28	156				
DAPK1	1612	broad.mit.edu	37	9	90317991	90317991	+	Silent	SNP	G	G	T	rs570648177		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr9:90317991G>T	ENST00000408954.3	+	25	3254	c.2919G>T	c.(2917-2919)ctG>ctT	p.L973L	DAPK1_ENST00000358077.5_Silent_p.L973L|DAPK1_ENST00000469640.2_Silent_p.L998L|DAPK1_ENST00000491893.1_Silent_p.L907L|DAPK1_ENST00000472284.1_Silent_p.L973L	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	973					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						TCTCCACGCTGCCTTCCTGGA	0.597									Chronic Lymphocytic Leukemia, Familial Clustering of				G|||	1	0.000199681	0.0	0.0	5008	,	,		19983	0.0		0.0	False		,,,				2504	0.001					uc004apc.2		NA																	0				ovary(1)|breast(1)	2						c.(2917-2919)CTG>CTT		death-associated protein kinase 1							72.0	73.0	73.0					9																	90317991		2128	4244	6372	SO:0001819	synonymous_variant	1612	Chronic_Lymphocytic_Leukemia_Familial_Clustering_of	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90317991G>T	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.2919G>T	9.37:g.90317991G>T						DAPK1_uc004apd.2_Silent_p.L973L|DAPK1_uc011ltg.1_Silent_p.L907L|DAPK1_uc011lth.1_Silent_p.L710L	p.L973L	NM_004938	NP_004929	P53355	DAPK1_HUMAN			25	3057	+			973					B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Silent	SNP	ENST00000408954.3	37	c.2919G>T	CCDS43842.1																																																																																				0.597	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		33	127	1	0	1.22e-17	1.69e-17	33	127				
SPATA31C1	441452	broad.mit.edu	37	9	90535265	90535265	+	RNA	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr9:90535265G>A	ENST00000602681.1	+	0	1169							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GGAGCCTCCCGGTCCTCTCAT	0.587																																						uc010mqi.2		NA																	0					0						c.(442-444)CGG>CAG		family with sequence similarity 75, member C1							81.0	93.0	89.0					9																	90535265		692	1591	2283			441452							g.chr9:90535265G>A	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"""family with sequence similarity 75, member C1"""	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90535265G>A						FAM75C1_uc004apq.3_Missense_Mutation_p.R131Q	p.R148Q	NM_001145124	NP_001138596					4	472	+									Missense_Mutation	SNP	ENST00000602681.1	37	c.443G>A																																																																																					0.587	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		179	143	0	0	0	0	179	143				
SHC3	53358	broad.mit.edu	37	9	91656972	91656972	+	Missense_Mutation	SNP	C	C	A	rs368053252		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr9:91656972C>A	ENST00000375835.4	-	10	1635	c.1329G>T	c.(1327-1329)gaG>gaT	p.E443D	SHC3_ENST00000375830.1_5'UTR|SHC3_ENST00000375831.1_5'UTR	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	443	CH1.				central nervous system development (GO:0007417)|epidermal growth factor receptor signaling pathway (GO:0007173)|insulin receptor signaling pathway (GO:0008286)|learning or memory (GO:0007611)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	signal transducer activity (GO:0004871)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						TTGGGCTGCTCTCAGCACTGC	0.517																																						uc004aqg.2		NA																	0				lung(3)|skin(1)	4						c.(1327-1329)GAG>GAT		src homology 2 domain-containing transforming							80.0	79.0	79.0					9																	91656972		2203	4300	6503	SO:0001583	missense	53358				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity	g.chr9:91656972C>A	D84361	CCDS6681.1	9q22.1	2013-02-14	2005-05-24		ENSG00000148082	ENSG00000148082		"""SH2 domain containing"""	18181	protein-coding gene	gene with protein product		605263	"""src homology 2 domain containing transforming protein C3"""			8808684	Standard	NM_016848		Approved	N-Shc, NSHC, SHCC	uc004aqf.2	Q92529	OTTHUMG00000020179	ENST00000375835.4:c.1329G>T	9.37:g.91656972C>A	ENSP00000364995:p.Glu443Asp						p.E443D	NM_016848	NP_058544	Q92529	SHC3_HUMAN			10	1636	-			443			CH1.		Q5T7I7|Q8TAP2|Q9UCX5	Missense_Mutation	SNP	ENST00000375835.4	37	c.1329G>T	CCDS6681.1	.	.	.	.	.	.	.	.	.	.	C	4.951	0.176639	0.09443	.	.	ENSG00000148082	ENST00000375835	T	0.29142	1.58	4.91	-0.613	0.11594	.	0.288477	0.38663	N	0.001614	T	0.14743	0.0356	N	0.25332	0.735	0.80722	D	1	B	0.15719	0.014	B	0.17979	0.02	T	0.10567	-1.0624	10	0.17369	T	0.5	-21.8127	3.8655	0.09015	0.0975:0.3292:0.3729:0.2004	.	443	Q92529	SHC3_HUMAN	D	443	ENSP00000364995:E443D	ENSP00000364995:E443D	E	-	3	2	SHC3	90846792	0.977000	0.34250	0.870000	0.34147	0.305000	0.27757	0.007000	0.13174	0.063000	0.16370	-0.175000	0.13238	GAG		0.517	SHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052986.1	NM_016848		26	140	1	0	1.08e-15	1.46e-15	26	140				
ZNF484	83744	broad.mit.edu	37	9	95609023	95609023	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr9:95609023A>T	ENST00000375495.3	-	5	2194	c.2046T>A	c.(2044-2046)caT>caA	p.H682Q	ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000332591.6_Missense_Mutation_p.H646Q|ZNF484_ENST00000395506.3_Missense_Mutation_p.H684Q|ZNF484_ENST00000395505.2_Missense_Mutation_p.H646Q	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	682					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)			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						GGGATTGCTGATGTATATGGA	0.398																																						uc004asu.1		NA																	0					0						c.(2044-2046)CAT>CAA		zinc finger protein 484 isoform a							81.0	84.0	83.0					9																	95609023		2203	4300	6503	SO:0001583	missense	83744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:95609023A>T	AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"""Zinc fingers, C2H2-type"", ""-"""	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.2046T>A	9.37:g.95609023A>T	ENSP00000364645:p.His682Gln					ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Missense_Mutation_p.H684Q|ZNF484_uc010mrb.1_Missense_Mutation_p.H646Q|ZNF484_uc004asv.1_Missense_Mutation_p.H646Q	p.H682Q	NM_031486	NP_113674	Q5JVG2	ZN484_HUMAN			5	2195	-			682			C2H2-type 15.		B1AL89|B4DRI2	Missense_Mutation	SNP	ENST00000375495.3	37	c.2046T>A	CCDS35066.1	.	.	.	.	.	.	.	.	.	.	.	9.588	1.125497	0.20959	.	.	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18	2.16	1.01	0.19927	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94052	0.8094	H	0.95079	3.62	0.26449	N	0.975634	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.992	D	0.84599	0.0671	9	0.87932	D	0	.	5.4777	0.16706	0.8456:0.0:0.1544:0.0	.	684;682	B4DRI2;Q5JVG2	.;ZN484_HUMAN	Q	646;684;682;646	ENSP00000378881:H646Q;ENSP00000378882:H684Q;ENSP00000364645:H682Q;ENSP00000364646:H646Q	ENSP00000364646:H646Q	H	-	3	2	ZNF484	94648844	0.995000	0.38212	0.991000	0.47740	0.280000	0.26924	1.263000	0.33004	0.279000	0.22186	-0.398000	0.06409	CAT		0.398	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2	XM_046861		155	101	0	0	0	0	155	101				
GALNT12	79695	broad.mit.edu	37	9	101608273	101608273	+	Silent	SNP	G	G	A	rs373044668		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr9:101608273G>A	ENST00000375011.3	+	9	1473	c.1473G>A	c.(1471-1473)acG>acA	p.T491T	RP11-92C4.3_ENST00000589257.1_RNA|RP11-92C4.3_ENST00000433997.1_RNA	NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	polypeptide N-acetylgalactosaminyltransferase 12	491	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.		T -> M (in CRCS1; germline mutation; loss of activity). {ECO:0000269|PubMed:19617566}.		cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				TCGAGTACACGTCCCAGAAAG	0.473																																						uc004ayz.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1471-1473)ACG>ACA		N-acetylgalactosaminyltransferase 12		G		0,4406		0,0,2203	83.0	71.0	75.0		1473	-2.2	1.0	9		75	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GALNT12	NM_024642.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		491/582	101608273	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79695					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr9:101608273G>A	AB078146	CCDS6737.1	9q22.33	2014-03-13	2014-03-13		ENSG00000119514	ENSG00000119514	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19877	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 12"""	610290	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)"""			12135769	Standard	NM_024642		Approved	GalNAc-T12	uc004ayz.3	Q8IXK2	OTTHUMG00000020348	ENST00000375011.3:c.1473G>A	9.37:g.101608273G>A							p.T491T	NM_024642	NP_078918	Q8IXK2	GLT12_HUMAN			9	1473	+		Acute lymphoblastic leukemia(62;0.0559)	491		T -> M (in CRCS1; germline mutation; loss of activity).	Ricin B-type lectin.|Lumenal (Potential).		Q5TCF7|Q8NG54|Q96CT9|Q9H771	Silent	SNP	ENST00000375011.3	37	c.1473G>A	CCDS6737.1																																																																																				0.473	GALNT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053382.1	NM_024642		18	54	0	0	0	0	18	54				
BRINP1	1620	broad.mit.edu	37	9	122004402	122004402	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr9:122004402C>T	ENST00000265922.3	-	4	963	c.502G>A	c.(502-504)Gca>Aca	p.A168T	BRINP1_ENST00000373964.2_Missense_Mutation_p.A168T	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	168	MACPF.				cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											TAGGATGATGCGAGCTGGTGC	0.512																																						uc004bkc.2		NA																	0				skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						c.(502-504)GCA>ACA		deleted in bladder cancer 1 precursor							181.0	148.0	159.0					9																	122004402		2203	4300	6503	SO:0001583	missense	1620				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:122004402C>T	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.502G>A	9.37:g.122004402C>T	ENSP00000265922:p.Ala168Thr					DBC1_uc004bkd.2_Missense_Mutation_p.A168T	p.A168T	NM_014618	NP_055433	O60477	DBC1_HUMAN			4	958	-			168			MACPF.		Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	ENST00000265922.3	37	c.502G>A	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	C	35	5.546193	0.96488	.	.	ENSG00000078725	ENST00000373969;ENST00000265922;ENST00000373964	T;T	0.56941	2.1;0.43	5.64	5.64	0.86602	Membrane attack complex component/perforin (MACPF) domain (1);	0.000000	0.85682	D	0.000000	T	0.72128	0.3422	M	0.64404	1.975	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.99;0.994	T	0.72947	-0.4137	10	0.87932	D	0	-8.2178	20.0666	0.97706	0.0:1.0:0.0:0.0	.	168;168	O60477-2;O60477	.;DBC1_HUMAN	T	168	ENSP00000265922:A168T;ENSP00000363075:A168T	ENSP00000265922:A168T	A	-	1	0	DBC1	121044223	1.000000	0.71417	0.837000	0.33122	0.923000	0.55619	7.776000	0.85560	2.826000	0.97356	0.561000	0.74099	GCA		0.512	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		28	189	0	0	0	0	28	189				
CEL	1056	broad.mit.edu	37	9	135947074	135947074	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr9:135947074G>T	ENST00000372080.4	+	11	2210	c.2194G>T	c.(2194-2196)Ggt>Tgt	p.G732C	CEL_ENST00000351304.7_Missense_Mutation_p.G663C	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	729	17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).				cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		GCCCCCCACGGGTGACTCTGA	0.682																																						uc010naa.1		NA																	0				pancreas(1)	1						c.(2194-2196)GGT>TGT		carboxyl ester lipase precursor							14.0	17.0	16.0					9																	135947074		1813	4042	5855	SO:0001583	missense	1056				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity	g.chr9:135947074G>T	M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"""bile salt-stimulated lipase"""	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.2194G>T	9.37:g.135947074G>T	ENSP00000361151:p.Gly732Cys						p.G732C	NM_001807	NP_001798	P19835	CEL_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)	11	2210	+			729			16.|17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).		Q16398|Q5T7U7|Q9UCH1|Q9UP41	Missense_Mutation	SNP	ENST00000372080.4	37	c.2194G>T	CCDS43896.1	.	.	.	.	.	.	.	.	.	.	g	11.56	1.673948	0.29693	.	.	ENSG00000170835	ENST00000372080;ENST00000351304;ENST00000303626	T;T	0.72051	-0.42;-0.62	2.77	1.82	0.25136	.	.	.	.	.	T	0.57975	0.2090	N	0.08118	0	0.09310	N	1	D	0.63046	0.992	P	0.51355	0.667	T	0.51513	-0.8696	9	0.87932	D	0	.	8.867	0.35291	0.0:0.0:0.7746:0.2254	.	729	P19835	CEL_HUMAN	C	732;663;698	ENSP00000361151:G732C;ENSP00000342217:G663C	ENSP00000304021:G698C	G	+	1	0	CEL	134936895	0.008000	0.16893	0.001000	0.08648	0.002000	0.02628	1.427000	0.34881	0.701000	0.31803	0.461000	0.40582	GGT		0.682	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054823.1			15	82	1	0	2.32e-09	2.9e-09	15	82				
DDX53	168400	broad.mit.edu	37	X	23019337	23019337	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:23019337C>T	ENST00000327968.5	+	1	1251	c.1163C>T	c.(1162-1164)cCc>cTc	p.P388L	RP11-40F8.2_ENST00000455399.1_lincRNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	388	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|RNA binding (GO:0003723)			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						GAATTTGAACCCCAGATAAGG	0.403																																						uc004daj.2		NA																	0				large_intestine(1)|ovary(1)|kidney(1)	3						c.(1162-1164)CCC>CTC		DEAD (Asp-Glu-Ala-Asp) box polypeptide 53							129.0	129.0	129.0					X																	23019337		2203	4300	6503	SO:0001583	missense	168400					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chrX:23019337C>T	AY039237	CCDS35214.1	Xp22.13	2009-03-25			ENSG00000184735	ENSG00000184735		"""DEAD-boxes"""	20083	protein-coding gene	gene with protein product	"""cancer associated gene"", ""cancer/testis antigen 26"""						Standard	NM_182699		Approved	CAGE, CT26	uc004daj.3	Q86TM3	OTTHUMG00000021248	ENST00000327968.5:c.1163C>T	X.37:g.23019337C>T	ENSP00000368667:p.Pro388Leu						p.P388L	NM_182699	NP_874358	Q86TM3	DDX53_HUMAN			1	1251	+			388			Helicase ATP-binding.		Q0D2N2|Q6NVV4	Missense_Mutation	SNP	ENST00000327968.5	37	c.1163C>T	CCDS35214.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.237025	0.39498	.	.	ENSG00000184735	ENST00000327968	T	0.15372	2.43	4.03	-3.63	0.04529	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.357037	0.32459	N	0.006069	T	0.39358	0.1075	M	0.90542	3.125	0.42665	D	0.993494	D	0.71674	0.998	D	0.72625	0.978	T	0.41360	-0.9513	10	0.87932	D	0	-14.627	8.3498	0.32295	0.4798:0.4108:0.1094:0.0	.	388	Q86TM3	DDX53_HUMAN	L	388	ENSP00000368667:P388L	ENSP00000368667:P388L	P	+	2	0	DDX53	22929258	0.036000	0.19791	0.000000	0.03702	0.368000	0.29767	0.587000	0.23909	-0.602000	0.05775	-0.224000	0.12420	CCC		0.403	DDX53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056043.1	NM_182699		44	84	0	0	0	0	44	84				
MAGEB18	286514	broad.mit.edu	37	X	26157130	26157130	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:26157130C>A	ENST00000325250.1	+	2	215	c.28C>A	c.(28-30)Cgt>Agt	p.R10S		NM_173699.3	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	10						cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						GAGTAAGCTCCGTGCCCGTGA	0.542																																						uc004dbq.1		NA																	0				central_nervous_system(1)	1						c.(28-30)CGT>AGT		melanoma antigen family B, 18							51.0	45.0	47.0					X																	26157130		2202	4300	6502	SO:0001583	missense	286514						protein binding	g.chrX:26157130C>A	AK057361	CCDS14216.1	Xp21.3	2008-02-05			ENSG00000176774	ENSG00000176774			28515	protein-coding gene	gene with protein product							Standard	NM_173699		Approved	MGC33889	uc004dbq.2	Q96M61	OTTHUMG00000021282	ENST00000325250.1:c.28C>A	X.37:g.26157130C>A	ENSP00000314543:p.Arg10Ser						p.R10S	NM_173699	NP_775970	Q96M61	MAGBI_HUMAN			2	215	+			10						Missense_Mutation	SNP	ENST00000325250.1	37	c.28C>A	CCDS14216.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.076139	0.36662	.	.	ENSG00000176774	ENST00000325250	T	0.06371	3.31	4.15	1.32	0.21799	Melanoma associated antigen, MAGE, N-terminal (1);	0.236641	0.29668	N	0.011519	T	0.17746	0.0426	M	0.76838	2.35	0.18873	N	0.999982	D	0.89917	1.0	D	0.87578	0.998	T	0.07385	-1.0775	10	0.49607	T	0.09	.	2.9806	0.05952	0.2157:0.5442:0.0:0.2401	.	10	Q96M61	MAGBI_HUMAN	S	10	ENSP00000314543:R10S	ENSP00000314543:R10S	R	+	1	0	MAGEB18	26067051	0.970000	0.33590	0.422000	0.26621	0.338000	0.28826	0.212000	0.17497	0.136000	0.18733	0.600000	0.82982	CGT		0.542	MAGEB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056120.1	NM_173699		8	8	1	0	5.49e-09	6.8e-09	8	8				
IL1RAPL1	11141	broad.mit.edu	37	X	29938141	29938141	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:29938141G>T	ENST00000378993.1	+	8	1660	c.987G>T	c.(985-987)ttG>ttT	p.L329F	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.L329F	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	329	Ig-like C2-type 3.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						AAGGTGACTTGGGAAATTACT	0.418																																						uc004dby.2		NA																	0				ovary(3)|lung(1)|pancreas(1)	5						c.(985-987)TTG>TTT		interleukin 1 receptor accessory protein-like 1							185.0	155.0	165.0					X																	29938141		2202	4300	6502	SO:0001583	missense	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:29938141G>T	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.987G>T	X.37:g.29938141G>T	ENSP00000368278:p.Leu329Phe						p.L329F	NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN			8	1495	+			329			Extracellular (Potential).|Ig-like C2-type 3.		A0AVG4|Q9UJ53	Missense_Mutation	SNP	ENST00000378993.1	37	c.987G>T	CCDS14218.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548108	0.65311	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	T;T	0.67171	-0.25;-0.25	5.91	5.91	0.95273	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.77177	0.4092	M	0.75447	2.3	0.48341	D	0.999638	D	0.71674	0.998	D	0.76575	0.988	T	0.78922	-0.2013	9	.	.	.	.	4.7812	0.13202	0.08:0.2205:0.5625:0.1369	.	329	Q9NZN1	IRPL1_HUMAN	F	329	ENSP00000368278:L329F;ENSP00000305200:L329F	.	L	+	3	2	IL1RAPL1	29848062	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.717000	0.25851	2.505000	0.84491	0.523000	0.50628	TTG		0.418	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		48	38	1	0	1.62e-15	2.18e-15	48	38				
NR0B1	190	broad.mit.edu	37	X	30326412	30326412	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:30326412G>T	ENST00000378970.4	-	1	1303	c.1069C>A	c.(1069-1071)Cag>Aag	p.Q357K	NR0B1_ENST00000453287.1_Missense_Mutation_p.Q357K|NR0B1_ENST00000378963.1_Missense_Mutation_p.Q62K	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	357	Ligand-binding. {ECO:0000250}.				adrenal gland development (GO:0030325)|gene expression (GO:0010467)|gonad development (GO:0008406)|hypothalamus development (GO:0021854)|intracellular receptor signaling pathway (GO:0030522)|Leydig cell differentiation (GO:0033327)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of cell differentiation (GO:0045596)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|protein localization (GO:0008104)|response to immobilization stress (GO:0035902)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|steroid biosynthetic process (GO:0006694)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	AF-2 domain binding (GO:0050682)|DNA binding (GO:0003677)|DNA hairpin binding (GO:0032448)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|steroid hormone receptor binding (GO:0035258)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	GCTTGGACCTGGGAGGCGGAG	0.637											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004dcf.3		NA																	0				ovary(1)|lung(1)	2	GRCh37	CM980036	NR0B1	M		c.(1069-1071)CAG>AAG		nuclear receptor subfamily 0, group B, member 1	Dexamethasone(DB01234)|Tretinoin(DB00755)						52.0	48.0	50.0					X																	30326412		2202	4300	6502	SO:0001583	missense	190				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding	g.chrX:30326412G>T	S74720	CCDS14223.1	Xp21.3	2014-06-28			ENSG00000169297	ENSG00000169297		"""Nuclear hormone receptors"""	7960	protein-coding gene	gene with protein product		300473	"""dosage-sensitive sex reversal"""	AHC, DSS		1301166, 10412368	Standard	NM_000475		Approved	DAX1, AHCH	uc004dcf.4	P51843	OTTHUMG00000021323	ENST00000378970.4:c.1069C>A	X.37:g.30326412G>T	ENSP00000368253:p.Gln357Lys		OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	816		p.Q357K	NM_000475	NP_000466	P51843	NR0B1_HUMAN			1	1084	-			357			Ligand-binding (By similarity).		Q96F69	Missense_Mutation	SNP	ENST00000378970.4	37	c.1069C>A	CCDS14223.1	.	.	.	.	.	.	.	.	.	.	G	3.311	-0.140892	0.06669	.	.	ENSG00000169297	ENST00000378970;ENST00000378963;ENST00000453287	D;D;D	0.97232	-4.3;-1.83;-4.3	5.07	1.07	0.20283	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.549654	0.21189	N	0.078663	D	0.92648	0.7664	L	0.27053	0.805	0.09310	N	1	B	0.23490	0.086	B	0.22386	0.039	D	0.84793	0.0780	10	0.41790	T	0.15	-8.6934	11.7854	0.52039	0.0:0.5411:0.3849:0.074	.	357	P51843	NR0B1_HUMAN	K	357;62;357	ENSP00000368253:Q357K;ENSP00000368246:Q62K;ENSP00000396403:Q357K	ENSP00000368246:Q62K	Q	-	1	0	NR0B1	30236333	0.994000	0.37717	0.002000	0.10522	0.356000	0.29392	1.469000	0.35343	0.166000	0.19597	-0.253000	0.11424	CAG		0.637	NR0B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056161.1	NM_000475		22	26	1	0	2.71e-06	3.14e-06	22	26				
ELK1	2002	broad.mit.edu	37	X	47497248	47497248	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:47497248C>A	ENST00000247161.3	-	4	1087	c.988G>T	c.(988-990)Ggg>Tgg	p.G330W	ELK1_ENST00000343894.4_Intron|ELK1_ENST00000592066.1_Missense_Mutation_p.G276W|ELK1_ENST00000376983.3_Missense_Mutation_p.G330W	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	330					cell differentiation (GO:0030154)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						GGTCCCGGCCCACCTAGCAGG	0.701																																						uc004dik.3		NA																	0				ovary(2)	2						c.(988-990)GGG>TGG		ELK1 protein							6.0	7.0	7.0					X																	47497248		2133	4134	6267	SO:0001583	missense	2002				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:47497248C>A	M25269	CCDS14283.1, CCDS59165.1	Xp11.23	2010-07-20			ENSG00000126767	ENSG00000126767			3321	protein-coding gene	gene with protein product		311040				2539641	Standard	NM_001114123		Approved		uc010nhv.4	P19419	OTTHUMG00000021452	ENST00000247161.3:c.988G>T	X.37:g.47497248C>A	ENSP00000247161:p.Gly330Trp					ELK1_uc010nhv.2_Missense_Mutation_p.G330W|ELK1_uc010nhw.2_Missense_Mutation_p.G220W|ELK1_uc004dil.3_Intron	p.G330W	NM_001114123	NP_001107595	P19419	ELK1_HUMAN			5	1310	-			330					B2R7H4|O75606|O95058|Q969X8|Q9UJM4	Missense_Mutation	SNP	ENST00000247161.3	37	c.988G>T	CCDS14283.1	.	.	.	.	.	.	.	.	.	.	c	17.70	3.455172	0.63401	.	.	ENSG00000126767	ENST00000247161;ENST00000542746;ENST00000376983	T;T	0.28255	1.62;1.62	5.49	5.49	0.81192	.	0.105878	0.64402	D	0.000007	T	0.52500	0.1738	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.53358	-0.8450	10	0.66056	D	0.02	.	13.9207	0.63930	0.0:1.0:0.0:0.0	.	330	P19419	ELK1_HUMAN	W	330;40;330	ENSP00000247161:G330W;ENSP00000366182:G330W	ENSP00000247161:G330W	G	-	1	0	ELK1	47382192	0.997000	0.39634	0.986000	0.45419	0.357000	0.29423	3.704000	0.54815	2.447000	0.82792	0.597000	0.82753	GGG		0.701	ELK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056436.1	NM_005229		3	2	1	0	0.004672	0.00490617	3	2				
GSPT2	23708	broad.mit.edu	37	X	51488354	51488354	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:51488354C>A	ENST00000340438.4	+	1	1874	c.1632C>A	c.(1630-1632)caC>caA	p.H544Q		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	544					cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					CGGTGCTGCACATTCATACTT	0.423																																						uc004dpl.2		NA																	0				ovary(1)	1						c.(1630-1632)CAC>CAA		peptide chain release factor 3							176.0	145.0	156.0					X																	51488354		2203	4300	6503	SO:0001583	missense	23708				cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding	g.chrX:51488354C>A	AI285711	CCDS14336.1	Xp11.22	2008-05-14			ENSG00000189369	ENSG00000189369			4622	protein-coding gene	gene with protein product		300418				10575220	Standard	NM_018094		Approved	eRF3b, FLJ10441	uc004dpl.3	Q8IYD1	OTTHUMG00000021538	ENST00000340438.4:c.1632C>A	X.37:g.51488354C>A	ENSP00000341247:p.His544Gln						p.H544Q	NM_018094	NP_060564	Q8IYD1	ERF3B_HUMAN			1	1858	+	Ovarian(276;0.236)		544					Q9H909|Q9NVY0|Q9NY44	Missense_Mutation	SNP	ENST00000340438.4	37	c.1632C>A	CCDS14336.1	.	.	.	.	.	.	.	.	.	.	C	12.43	1.935228	0.34189	.	.	ENSG00000189369	ENST00000340438;ENST00000502175	T	0.37411	1.2	4.75	0.0417	0.14214	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal (1);Translation elongation factor EFTu/EF1A, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.66005	0.2746	H	0.96175	3.78	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.67469	-0.5663	10	0.87932	D	0	-7.0067	8.4051	0.32610	0.0:0.4077:0.0:0.5923	.	544	Q8IYD1	ERF3B_HUMAN	Q	544;461	ENSP00000341247:H544Q	ENSP00000341247:H544Q	H	+	3	2	GSPT2	51505094	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	1.409000	0.34680	-0.141000	0.11374	-0.213000	0.12676	CAC		0.423	GSPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056587.1			47	47	1	0	2.02e-29	2.96e-29	47	47				
KLF8	11279	broad.mit.edu	37	X	56296753	56296753	+	Splice_Site	SNP	A	A	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:56296753A>T	ENST00000468660.1	+	5	1185	c.897A>T	c.(895-897)acA>acT	p.T299T	KLF8_ENST00000374928.3_Intron	NM_007250.4	NP_009181.2	O95600	KLF8_HUMAN	Kruppel-like factor 8	299					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						GAATCCATACAGGTCTGCCCA	0.512																																						uc004dur.2		NA																	0				ovary(1)	1						c.(895-897)ACA>ACT		Kruppel-like factor 8 isoform 1							109.0	71.0	84.0					X																	56296753		2203	4300	6503	SO:0001630	splice_region_variant	11279				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:56296753A>T	U28282	CCDS14373.1, CCDS55428.1	Xp11.21	2013-01-08			ENSG00000102349	ENSG00000102349		"""Zinc fingers, C2H2-type"", ""Kruppel-like transcription factors"""	6351	protein-coding gene	gene with protein product		300286					Standard	NM_007250		Approved	BKLF3, ZNF741, DXS741	uc004dur.3	O95600	OTTHUMG00000021666	ENST00000468660.1:c.898+1A>T	X.37:g.56296753A>T						KLF8_uc011mop.1_Intron|KLF8_uc010nkh.2_RNA	p.T299T	NM_007250	NP_009181	O95600	KLF8_HUMAN			5	1843	+			299					B4DJN3|E7EQQ8|L0R3U8|L0R4U2|Q2M246|Q59GV5|Q5HYQ5|Q5JXP7|Q6MZJ7|Q9UGC4	Silent	SNP	ENST00000468660.1	37	c.897A>T	CCDS14373.1																																																																																				0.512	KLF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056887.2	NM_007250	Silent	9	6	0	0	0	0	9	6				
CYLC1	1538	broad.mit.edu	37	X	83128538	83128538	+	Silent	SNP	G	G	A	rs148140928		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:83128538G>A	ENST00000329312.4	+	4	859	c.822G>A	c.(820-822)aaG>aaA	p.K274K		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	274					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						ATAATTCAAAGAATTATTCTT	0.318																																						uc004eei.1		NA																	0				ovary(4)|skin(1)	5						c.(820-822)AAG>AAA		cylicin, basic protein of sperm head							27.0	28.0	27.0					X																	83128538		2190	4273	6463	SO:0001819	synonymous_variant	1538				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	g.chrX:83128538G>A	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.822G>A	X.37:g.83128538G>A						CYLC1_uc004eeh.1_Silent_p.K273K	p.K274K	NM_021118	NP_066941	P35663	CYLC1_HUMAN			4	843	+			274					A0AVQ8|Q5JQQ9	Silent	SNP	ENST00000329312.4	37	c.822G>A	CCDS35341.1																																																																																				0.318	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		6	17	0	0	0	0	6	17				
RPS6KA6	27330	broad.mit.edu	37	X	83351277	83351277	+	Silent	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:83351277C>T	ENST00000262752.2	-	20	1903	c.1896G>A	c.(1894-1896)gaG>gaA	p.E632E	RPS6KA6_ENST00000495332.1_5'UTR|RPS6KA6_ENST00000543399.1_Silent_p.E632E	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	632	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						GCAGCAGTATCTCTTCAGGAG	0.358																																						uc004eej.1		NA																	0				lung(5)|stomach(1)|central_nervous_system(1)|skin(1)	8						c.(1894-1896)GAG>GAA		ribosomal protein S6 kinase polypeptide 6							79.0	66.0	71.0					X																	83351277		2203	4300	6503	SO:0001819	synonymous_variant	27330				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:83351277C>T	AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"""ribosomal protein S6 kinase, 90kD, polypeptide 6"""			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.1896G>A	X.37:g.83351277C>T						RPS6KA6_uc011mqt.1_Silent_p.E632E|RPS6KA6_uc011mqu.1_Silent_p.E529E	p.E632E	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN			20	1973	-			632			Protein kinase 2.		B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Silent	SNP	ENST00000262752.2	37	c.1896G>A	CCDS14451.1																																																																																				0.358	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	NM_014496		21	20	0	0	0	0	21	20				
IL1RAPL2	26280	broad.mit.edu	37	X	105011320	105011320	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:105011320G>T	ENST00000372582.1	+	11	2483	c.1727G>T	c.(1726-1728)gGa>gTa	p.G576V	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.G576V	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	576					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						GCAGAACAAGGACTTTTTGGA	0.438																																						uc004elz.1		NA																	0				breast(2)|ovary(1)	3						c.(1726-1728)GGA>GTA		interleukin 1 receptor accessory protein-like 2							86.0	80.0	82.0					X																	105011320		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:105011320G>T	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.1727G>T	X.37:g.105011320G>T	ENSP00000361663:p.Gly576Val						p.G576V	NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN			11	2483	+			576			Cytoplasmic (Potential).		Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	37	c.1727G>T	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.287184	0.59867	.	.	ENSG00000189108	ENST00000372582;ENST00000344799;ENST00000538500	T;T;T	0.05580	3.65;3.65;3.42	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000002	T	0.18002	0.0432	M	0.65498	2.005	0.80722	D	1	D	0.54047	0.964	P	0.55785	0.784	T	0.00059	-1.2165	10	0.66056	D	0.02	.	13.4982	0.61438	0.0:0.1519:0.8481:0.0	.	576	Q9NP60	IRPL2_HUMAN	V	576;576;181	ENSP00000361663:G576V;ENSP00000344976:G576V;ENSP00000445576:G181V	ENSP00000344976:G576V	G	+	2	0	IL1RAPL2	104897976	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.513000	0.81739	2.425000	0.82216	0.600000	0.82982	GGA		0.438	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		29	38	1	0	7.38e-10	9.29e-10	29	38				
CXorf57	55086	broad.mit.edu	37	X	105855463	105855463	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:105855463G>A	ENST00000372548.4	+	1	262	c.153G>A	c.(151-153)gaG>gaA	p.E51E	CXorf57_ENST00000372544.2_Silent_p.E51E	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	51							poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						AGGTTCTTGAGCAGATTATGG	0.607																																						uc004emi.3		NA																	0				ovary(1)|lung(1)|breast(1)	3						c.(151-153)GAG>GAA		hypothetical protein LOC55086							89.0	87.0	88.0					X																	105855463		2203	4300	6503	SO:0001819	synonymous_variant	55086							g.chrX:105855463G>A	AK024253	CCDS14519.1, CCDS55470.1	Xq22.3	2008-02-05			ENSG00000147231	ENSG00000147231			25486	protein-coding gene	gene with protein product							Standard	NM_018015		Approved	FLJ14191, FLJ10178	uc004emi.4	Q6NSI4	OTTHUMG00000022150	ENST00000372548.4:c.153G>A	X.37:g.105855463G>A						CXorf57_uc004emj.3_Silent_p.E51E|CXorf57_uc004emh.2_Silent_p.E51E	p.E51E	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN			1	304	+			51					H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	Silent	SNP	ENST00000372548.4	37	c.153G>A	CCDS14519.1																																																																																				0.607	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057800.2	NM_018015		48	43	0	0	0	0	48	43				
STAG2	10735	broad.mit.edu	37	X	123217393	123217393	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:123217393G>A	ENST00000371160.1	+	29	3337	c.3047G>A	c.(3046-3048)aGa>aAa	p.R1016K	STAG2_ENST00000371145.3_Missense_Mutation_p.R1016K|STAG2_ENST00000354548.5_Missense_Mutation_p.R947K|STAG2_ENST00000371144.3_Missense_Mutation_p.R1016K|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Missense_Mutation_p.R1016K|STAG2_ENST00000371157.3_Missense_Mutation_p.R1016K	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	1016					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CAAGACAAAAGAACAGTGTAT	0.358																																						uc004etz.3		NA																	0				ovary(4)|skin(1)	5						c.(3046-3048)AGA>AAA		stromal antigen 2 isoform b							78.0	75.0	76.0					X																	123217393		2203	4299	6502	SO:0001583	missense	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123217393G>A	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.3047G>A	X.37:g.123217393G>A	ENSP00000360202:p.Arg1016Lys					STAG2_uc004eua.2_Missense_Mutation_p.R1016K|STAG2_uc004eub.2_Missense_Mutation_p.R1016K|STAG2_uc004euc.2_Missense_Mutation_p.R1016K|STAG2_uc004eud.2_Missense_Mutation_p.R1016K|STAG2_uc004eue.2_Missense_Mutation_p.R1016K	p.R1016K	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN			28	3386	+			1016					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	ENST00000371160.1	37	c.3047G>A	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	G	3.563	-0.089302	0.07097	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02;-1.02	4.55	3.69	0.42338	.	0.101697	0.64402	D	0.000002	T	0.41858	0.1177	N	0.01134	-0.995	0.33191	D	0.550802	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.48768	-0.9006	10	0.02654	T	1	-9.799	7.611	0.28131	0.2707:0.0:0.7293:0.0	.	1016;1016	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	K	1016;947;1016;1016;1016;1016	ENSP00000218089:R1016K;ENSP00000346555:R947K;ENSP00000360202:R1016K;ENSP00000360199:R1016K;ENSP00000360187:R1016K;ENSP00000360186:R1016K	ENSP00000218089:R1016K	R	+	2	0	STAG2	123045074	1.000000	0.71417	0.989000	0.46669	0.988000	0.76386	4.159000	0.58157	0.849000	0.35215	0.506000	0.49869	AGA		0.358	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		25	30	0	0	0	0	25	30				
SLITRK4	139065	broad.mit.edu	37	X	142717166	142717166	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:142717166G>T	ENST00000381779.4	-	2	1984	c.1759C>A	c.(1759-1761)Ccg>Acg	p.P587T	SLITRK4_ENST00000338017.4_Missense_Mutation_p.P587T|SLITRK4_ENST00000356928.1_Missense_Mutation_p.P587T	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	587						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					GGTGCAGACGGCTTATTTAAA	0.453																																						uc004fbx.2		NA																	0				upper_aerodigestive_tract(1)|large_intestine(1)	2						c.(1759-1761)CCG>ACG		slit and trk like 4 protein precursor							111.0	111.0	111.0					X																	142717166		2203	4300	6503	SO:0001583	missense	139065					integral to membrane		g.chrX:142717166G>T	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.1759C>A	X.37:g.142717166G>T	ENSP00000371198:p.Pro587Thr					SLITRK4_uc004fby.2_Missense_Mutation_p.P587T	p.P587T	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN			2	2135	-	Acute lymphoblastic leukemia(192;6.56e-05)		587			Extracellular (Potential).		Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	c.1759C>A	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.837335	0.32513	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.55760	0.5;0.5;0.5	5.71	5.71	0.89125	.	0.060395	0.64402	U	0.000002	T	0.33177	0.0854	N	0.10874	0.06	0.80722	D	1	B	0.29378	0.243	B	0.28465	0.09	T	0.22068	-1.0227	10	0.08179	T	0.78	-5.1881	17.2799	0.87125	0.0:0.0:1.0:0.0	.	587	Q8IW52	SLIK4_HUMAN	T	587	ENSP00000371198:P587T;ENSP00000349400:P587T;ENSP00000336627:P587T	ENSP00000336627:P587T	P	-	1	0	SLITRK4	142544832	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	7.794000	0.85869	2.404000	0.81709	0.600000	0.82982	CCG		0.453	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		37	47	1	0	2.1e-21	2.96e-21	37	47				
SLITRK2	84631	broad.mit.edu	37	X	144905021	144905021	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:144905021C>G	ENST00000370490.1	+	1	5333	c.1078C>G	c.(1078-1080)Caa>Gaa	p.Q360E	SLITRK2_ENST00000434188.2_Missense_Mutation_p.Q360E|SLITRK2_ENST00000413937.2_Missense_Mutation_p.Q360E|SLITRK2_ENST00000447897.2_Missense_Mutation_p.Q360E|SLITRK2_ENST00000428560.2_Missense_Mutation_p.Q360E			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	360	LRRNT.				axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TGTAAACTGCCAAGAAAGGAA	0.473																																						uc004fcd.2		NA																	0				ovary(5)|central_nervous_system(1)|pancreas(1)	7						c.(1078-1080)CAA>GAA		SLIT and NTRK-like family, member 2 precursor							67.0	63.0	64.0					X																	144905021		2203	4300	6503	SO:0001583	missense	84631					integral to membrane		g.chrX:144905021C>G	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.1078C>G	X.37:g.144905021C>G	ENSP00000359521:p.Gln360Glu					SLITRK2_uc010nsp.2_Missense_Mutation_p.Q360E|SLITRK2_uc010nso.2_Missense_Mutation_p.Q360E|SLITRK2_uc011mwq.1_Missense_Mutation_p.Q360E|SLITRK2_uc011mwr.1_Missense_Mutation_p.Q360E|SLITRK2_uc011mws.1_Missense_Mutation_p.Q360E|SLITRK2_uc004fcg.2_Missense_Mutation_p.Q360E|SLITRK2_uc011mwt.1_Missense_Mutation_p.Q360E	p.Q360E	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN			5	2068	+	Acute lymphoblastic leukemia(192;6.56e-05)		360			Extracellular (Potential).|LRRNT.		A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	c.1078C>G	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158805	0.78226	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78	5.67	5.67	0.87782	Leucine-rich repeat-containing N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.65375	0.2685	M	0.62723	1.935	0.80722	D	1	D	0.69078	0.997	D	0.79784	0.993	T	0.62329	-0.6877	10	0.33141	T	0.24	-6.1738	15.945	0.79787	0.0:1.0:0.0:0.0	.	360	Q9H156	SLIK2_HUMAN	E	360	ENSP00000334374:Q360E;ENSP00000411681:Q360E;ENSP00000359521:Q360E;ENSP00000397015:Q360E;ENSP00000407347:Q360E;ENSP00000412010:Q360E	ENSP00000334374:Q360E	Q	+	1	0	SLITRK2	144712713	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.818000	0.86416	2.365000	0.80145	0.600000	0.82982	CAA		0.473	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		31	22	0	0	0	0	31	22				
PNMA3	29944	broad.mit.edu	37	X	152225666	152225666	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:152225666A>G	ENST00000370264.4	+	1	280	c.254A>G	c.(253-255)aAg>aGg	p.K85R	PNMA3_ENST00000447306.1_Missense_Mutation_p.K85R|PNMA3_ENST00000370265.4_Missense_Mutation_p.K85R			Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	85					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					ataccaggaaagggggggccc	0.527																																						uc004fhc.2		NA																	0				skin(2)|large_intestine(1)	3						c.(253-255)AAG>AGG		paraneoplastic cancer-testis-brain antigen							46.0	51.0	50.0					X																	152225666		2203	4300	6503	SO:0001583	missense	29944				apoptosis	nucleolus	nucleic acid binding|zinc ion binding	g.chrX:152225666A>G	AF083116	CCDS35435.2, CCDS65344.1	Xq28	2012-02-09	2012-02-09		ENSG00000183837	ENSG00000183837		"""Paraneoplastic Ma antigens"""	18742	protein-coding gene	gene with protein product	"""paraneoplastic cancer-testis-brain antigen"""	300675	"""paraneoplastic antigen MA3"""			11558790	Standard	NM_013364		Approved	MA5, MA3, MGC132756, MGC132758	uc004fhc.2	Q9UL41	OTTHUMG00000024195	ENST00000370264.4:c.254A>G	X.37:g.152225666A>G	ENSP00000359286:p.Lys85Arg					PNMA5_uc004fha.3_5'Flank|PNMA3_uc004fhd.2_5'Flank	p.K85R	NM_013364	NP_037496	Q9UL41	PNMA3_HUMAN			2	590	+	Acute lymphoblastic leukemia(192;6.56e-05)		85					D3DWT7|Q9H0A4	Missense_Mutation	SNP	ENST00000370264.4	37	c.254A>G	CCDS35435.2	.	.	.	.	.	.	.	.	.	.	a	12.18	1.859135	0.32884	.	.	ENSG00000183837	ENST00000370265;ENST00000447306;ENST00000370264	T;T;T	0.10477	2.87;2.87;2.87	1.93	-0.899	0.10547	.	.	.	.	.	T	0.06645	0.0170	N	0.25890	0.77	0.09310	N	1	B	0.32753	0.383	B	0.36186	0.219	T	0.39333	-0.9619	9	0.27785	T	0.31	.	2.4168	0.04437	0.4388:0.282:0.0:0.2791	.	85	Q9UL41	PNMA3_HUMAN	R	85	ENSP00000359288:K85R;ENSP00000407642:K85R;ENSP00000359286:K85R	ENSP00000359286:K85R	K	+	2	0	PNMA3	151976322	0.053000	0.20554	0.009000	0.14445	0.631000	0.37964	-0.091000	0.11146	-0.287000	0.09064	-0.814000	0.03130	AAG		0.527	PNMA3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060946.2	NM_013364		13	23	0	0	0	0	13	23				
SPRY3	10251	broad.mit.edu	37	X	155004162	155004162	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:155004162C>T	ENST00000302805.2	+	2	1060	c.629C>T	c.(628-630)cCc>cTc	p.P210L		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	210	Cys-rich.|SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				multicellular organismal development (GO:0007275)|regulation of signal transduction (GO:0009966)	cytoplasm (GO:0005737)|membrane (GO:0016020)						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GCTGATGAGCCCTGCTCTTGT	0.562																																						uc004fnq.1		NA																	0					0						c.(628-630)CCC>CTC		sprouty homolog 3							265.0	234.0	245.0					X																	155004162		2203	4296	6499	SO:0001583	missense	10251				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane		g.chrX:155004162C>T	AF041038	CCDS14769.4	Xq28 and Yq12	2008-02-05	2001-11-28		ENSG00000168939	ENSG00000168939		"""Pseudoautosomal regions / PAR2"""	11271	protein-coding gene	gene with protein product	"""antagonist of FGF signaling"""	300531	"""sprouty (Drosophila) homolog 2"""			9458049	Standard	NM_005840		Approved	HSPRY3	uc004fnq.1	O43610	OTTHUMG00000022675	ENST00000302805.2:c.629C>T	X.37:g.155004162C>T	ENSP00000302978:p.Pro210Leu					SPRY3_uc010nvl.1_Missense_Mutation_p.P111L	p.P210L	NM_005840	NP_005831	O43610	SPY3_HUMAN			2	1083	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		210			SPR.|Cys-rich.		A8K0H8	Missense_Mutation	SNP	ENST00000302805.2	37	c.629C>T	CCDS14769.4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.00|17.00	3.277953|3.277953	0.59758|0.59758	.|.	.|.	ENSG00000168939|ENSG00000168939	ENST00000302805|ENST00000369437	T|.	0.78595|.	-1.19|.	2.94|2.94	2.94|2.94	0.34122|0.34122	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.46425|0.46425	0.1392|0.1392	.|.	.|.	.|.	0.20873|0.20873	N|N	0.999835|0.999835	D|.	0.76494|.	0.999|.	D|.	0.91635|.	0.999|.	T|T	0.41840|0.41840	-0.9486|-0.9486	9|6	0.87932|0.87932	D|D	0|0	-11.8384|-11.8384	10.9825|10.9825	0.47504|0.47504	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	210|.	O43610|.	SPY3_HUMAN|.	L|S	210|111	ENSP00000302978:P210L|.	ENSP00000302978:P210L|ENSP00000358445:P111S	P|P	+|+	2|1	0|0	SPRY3|SPRY3	154657356|154657356	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.899000|0.899000	0.52679|0.52679	7.209000|7.209000	0.77916|0.77916	1.494000|1.494000	0.48533|0.48533	0.279000|0.279000	0.19357|0.19357	CCC|CCT		0.562	SPRY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058823.2	NM_005840		90	198	0	0	0	0	90	198				
IL9R	3581	broad.mit.edu	37	X	155233355	155233355	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:155233355G>A	ENST00000244174.5	+	4	447	c.268G>A	c.(268-270)Ggc>Agc	p.G90S	IL9R_ENST00000369423.2_Silent_p.L134L|IL9R_ENST00000540897.1_Silent_p.L124L|IL9R_ENST00000424344.3_Missense_Mutation_p.G69S	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	90					cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCAGGCTCCTGGCGGCACACA	0.577																																						uc004fnv.1		NA																	0					0						c.(268-270)GGC>AGC		interleukin 9 receptor precursor							67.0	66.0	66.0					X																	155233355		2203	4296	6499	SO:0001583	missense	3581				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity	g.chrX:155233355G>A	M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"""Pseudoautosomal regions / PAR2"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.268G>A	X.37:g.155233355G>A	ENSP00000244174:p.Gly90Ser					IL9R_uc010nvn.2_Missense_Mutation_p.G69S|IL9R_uc004fnu.1_Silent_p.L134L	p.G90S	NM_002186	NP_002177	Q01113	IL9R_HUMAN			4	447	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		90			Extracellular (Potential).		B9ZVT0|Q14634|Q8WWU1|Q96TF0	Missense_Mutation	SNP	ENST00000244174.5	37	c.268G>A	CCDS14771.4	.	.	.	.	.	.	.	.	.	.	.	9.424	1.083801	0.20309	.	.	ENSG00000124334	ENST00000244174;ENST00000424344;ENST00000455739	T;T	0.29397	1.57;1.57	1.29	1.29	0.21616	.	1.196770	0.06078	N	0.661396	T	0.26412	0.0645	.	.	.	0.09310	N	1	P;P	0.50528	0.879;0.936	B;P	0.50405	0.36;0.64	T	0.21965	-1.0230	9	0.13470	T	0.59	-16.7077	5.5447	0.17057	0.0:0.0:1.0:0.0	.	69;90	F5H3Z0;Q01113	.;IL9R_HUMAN	S	90;69;69	ENSP00000244174:G90S;ENSP00000388918:G69S	ENSP00000244174:G90S	G	+	1	0	IL9R	154886549	0.006000	0.16342	0.006000	0.13384	0.180000	0.23129	1.213000	0.32407	0.932000	0.37266	0.287000	0.19450	GGC		0.577	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058981.1	NM_002186		7	18	0	0	0	0	7	18				
EFCAB14	9813	broad.mit.edu	37	1	47154099	47154100	+	Frame_Shift_Ins	INS	-	-	CTGGGTAAGATTA			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:47154099_47154100insCTGGGTAAGATTA	ENST00000371933.3	-	7	1888_1889	c.912_913insTAATCTTACCCAG	c.(910-915)cagagafs	p.R305fs	EFCAB14_ENST00000544071.1_Intron|EFCAB14-AS1_ENST00000442839.1_RNA|EFCAB14_ENST00000484461.1_5'UTR|EFCAB14-AS1_ENST00000418985.1_RNA	NM_014774.2	NP_055589.1	O75071	EFC14_HUMAN	EF-hand calcium binding domain 14	305							calcium ion binding (GO:0005509)										AGGTTGACTCTCTGGGTAAGAT	0.441																																						uc001cqk.3		NA																	0					0						c.(910-915)CAGAGAfs		hypothetical protein LOC9813																																				SO:0001589	frameshift_variant	9813						calcium ion binding	g.chr1:47154099_47154100insCTGGGTAAGATTA	AB007963	CCDS30706.1	1p33	2013-01-10	2012-11-29	2012-11-29	ENSG00000159658	ENSG00000159658		"""EF-hand domain containing"""	29051	protein-coding gene	gene with protein product			"""KIAA0494"""	KIAA0494		9455484	Standard	NM_014774		Approved		uc001cqk.4	O75071	OTTHUMG00000007992	ENST00000371933.3:c.900_912dupTAATCTTACCCAG	1.37:g.47154099_47154100insCTGGGTAAGATTA	ENSP00000361001:p.Arg305fs					KIAA0494_uc010omh.1_Intron|KIAA0494_uc010omj.1_Intron|KIAA0494_uc001cql.1_Frame_Shift_Ins_p.Q304fs	p.Q304fs	NM_014774	NP_055589	O75071	K0494_HUMAN			7	1889_1890	-	Acute lymphoblastic leukemia(166;0.155)		304_305					D3DQ23|Q5SXB8	Frame_Shift_Ins	INS	ENST00000371933.3	37	c.912_913insTAATCTTACCCAG	CCDS30706.1																																																																																				0.441	EFCAB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021931.1	NM_014774		19	331	NA	NA	NA	NA	19	331	---	---	---	---
DBT	1629	broad.mit.edu	37	1	100672035	100672035	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:100672035delG	ENST00000370132.4	-	9	1188	c.1175delC	c.(1174-1176)acafs	p.T392fs		NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	392					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity (GO:0043754)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		TGTTCCTCCTGTAAGATCAGT	0.378																																						uc001dta.2		NA																	0				pancreas(1)	1						c.(1174-1176)ACAfs		dihydrolipoamide branched chain transacylase							166.0	167.0	167.0					1																	100672035		2203	4300	6503	SO:0001589	frameshift_variant	1629				branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding	g.chr1:100672035delG	BC016675	CCDS767.1	1p31	2008-02-05	2004-11-15		ENSG00000137992	ENSG00000137992			2698	protein-coding gene	gene with protein product		248610	"""dihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex; maple syrup urine disease)"""			1420314, 1429740	Standard	NM_001918		Approved		uc001dta.3	P11182	OTTHUMG00000010921	ENST00000370132.4:c.1175delC	1.37:g.100672035delG	ENSP00000359151:p.Thr392fs					DBT_uc010oug.1_Frame_Shift_Del_p.T211fs	p.T392fs	NM_001918	NP_001909	P11182	ODB2_HUMAN		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)	9	1208	-		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	392					B2R811|Q5VVL8	Frame_Shift_Del	DEL	ENST00000370132.4	37	c.1175delC	CCDS767.1																																																																																				0.378	DBT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030101.2	NM_001918		77	398	NA	NA	NA	NA	77	398	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103480115	103480115	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:103480115delG	ENST00000370096.3	-	13	1836	c.1524delC	c.(1522-1524)accfs	p.T508fs	COL11A1_ENST00000353414.4_Frame_Shift_Del_p.T469fs|COL11A1_ENST00000512756.1_Frame_Shift_Del_p.T392fs|COL11A1_ENST00000358392.2_Frame_Shift_Del_p.T520fs	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	508	Triple-helical region (interrupted).				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GAGCAGAGATGGTTGGTCCTT	0.418																																						uc001dul.2		NA																	0				ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(1522-1524)ACCfs		alpha 1 type XI collagen isoform A							102.0	86.0	92.0					1																	103480115		2203	4300	6503	SO:0001589	frameshift_variant	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103480115delG	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1524delC	1.37:g.103480115delG	ENSP00000359114:p.Thr508fs					COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Frame_Shift_Del_p.T520fs|COL11A1_uc001dun.2_Frame_Shift_Del_p.T469fs|COL11A1_uc009weh.2_Frame_Shift_Del_p.T392fs	p.T508fs	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	13	1842	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	508			Triple-helical region (interrupted).		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Frame_Shift_Del	DEL	ENST00000370096.3	37	c.1524delC	CCDS778.1																																																																																				0.418	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		60	105	NA	NA	NA	NA	60	105	---	---	---	---
CCDC181	57821	broad.mit.edu	37	1	169394069	169394069	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:169394069delT	ENST00000367806.3	-	2	249	c.97delA	c.(97-99)agtfs	p.S33fs	CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000545005.1_Frame_Shift_Del_p.S33fs|CCDC181_ENST00000367805.3_Frame_Shift_Del_p.S33fs	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	33						nucleus (GO:0005634)											CTGGCATCACTTTTTTCATTT	0.289																																						uc001gga.1		NA																	0					0						c.(97-99)AGTfs		hypothetical protein LOC57821							142.0	134.0	137.0					1																	169394069		2202	4297	6499	SO:0001589	frameshift_variant	57821							g.chr1:169394069delT	AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 114"""	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.97delA	1.37:g.169394069delT	ENSP00000356780:p.Ser33fs					C1orf114_uc001gfz.1_Frame_Shift_Del_p.S33fs|C1orf114_uc009wvq.1_Frame_Shift_Del_p.S33fs|C1orf114_uc001ggb.2_Frame_Shift_Del_p.S33fs|C1orf114_uc001ggc.1_Frame_Shift_Del_p.S33fs	p.S33fs	NM_021179	NP_067002	Q5TID7	CA114_HUMAN			2	265	-	all_hematologic(923;0.208)		33					O60780|Q53FD5|Q5TID9|Q8TC48	Frame_Shift_Del	DEL	ENST00000367806.3	37	c.97delA																																																																																					0.289	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086099.1	NM_021179		53	125	NA	NA	NA	NA	53	125	---	---	---	---
RGS1	5996	broad.mit.edu	37	1	192547358	192547358	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:192547358delA	ENST00000367459.3	+	4	353	c.287delA	c.(286-288)caafs	p.Q96fs	RGS1_ENST00000469578.2_Frame_Shift_Del_p.Q96fs	NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	96	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|immune response (GO:0006955)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				TTAGCTGGTCAAAATGTCTTT	0.338																																						uc001gsi.1		NA																	0					0						c.(286-288)CAAfs		regulator of G-protein signalling 1							128.0	136.0	133.0					1																	192547358		2203	4300	6503	SO:0001589	frameshift_variant	5996				immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	g.chr1:192547358delA	AF493925	CCDS1375.2	1q31	2008-02-05	2007-08-14		ENSG00000090104	ENSG00000090104		"""Regulators of G-protein signaling"""	9991	protein-coding gene	gene with protein product		600323	"""regulator of G-protein signalling 1"""	IER1		8241276, 8602223	Standard	NM_002922		Approved	1R20, IR20, BL34	uc001gsi.1	Q08116	OTTHUMG00000035598	ENST00000367459.3:c.287delA	1.37:g.192547358delA	ENSP00000356429:p.Gln96fs					RGS1_uc010pou.1_Frame_Shift_Del_p.Q96fs	p.Q96fs	NM_002922	NP_002913	Q08116	RGS1_HUMAN			4	353	+		Breast(1374;0.188)	96			RGS.		B2RDM9|B4DZY0|Q07918|Q9H1W2	Frame_Shift_Del	DEL	ENST00000367459.3	37	c.287delA	CCDS1375.2																																																																																				0.338	RGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086391.1	NM_002922		123	254	NA	NA	NA	NA	123	254	---	---	---	---
CHRM3	1131	broad.mit.edu	37	1	240070839	240070839	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:240070839delC	ENST00000255380.4	+	5	867	c.88delC	c.(88-90)cccfs	p.P31fs		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	31					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TGCAGGGCTGCCCCCGGGAAC	0.542																																						uc001hyp.2		NA																	0				ovary(4)|skin(1)	5						c.(88-90)CCCfs		cholinergic receptor, muscarinic 3	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)						71.0	71.0	71.0					1																	240070839		2203	4300	6503	SO:0001589	frameshift_variant	1131				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr1:240070839delC	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.88delC	1.37:g.240070839delC	ENSP00000255380:p.Pro31fs						p.P30fs	NM_000740	NP_000731	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	867	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	30			Extracellular (By similarity).		Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Frame_Shift_Del	DEL	ENST00000255380.4	37	c.88delC	CCDS1616.1																																																																																				0.542	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		66	190	NA	NA	NA	NA	66	190	---	---	---	---
PPFIA2	8499	broad.mit.edu	37	12	81839439	81839439	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:81839439delC	ENST00000549396.1	-	6	626	c.466delG	c.(466-468)gtgfs	p.V157fs	RP11-315E17.1_ENST00000550272.1_RNA|PPFIA2_ENST00000333447.7_Frame_Shift_Del_p.V139fs|PPFIA2_ENST00000550584.2_Frame_Shift_Del_p.V157fs|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000443686.3_Frame_Shift_Del_p.V83fs|PPFIA2_ENST00000550359.2_Frame_Shift_Del_p.V4fs|PPFIA2_ENST00000407050.4_Frame_Shift_Del_p.V83fs|PPFIA2_ENST00000549325.1_Frame_Shift_Del_p.V139fs|PPFIA2_ENST00000548586.1_Frame_Shift_Del_p.V157fs|PPFIA2_ENST00000552948.1_Frame_Shift_Del_p.V157fs	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	157	Glu-rich.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CGTTTTACCACCGTCATTCTT	0.428																																						uc001szo.1		NA																	0				ovary(3)|lung(2)|pancreas(1)	6						c.(466-468)GTGfs		PTPRF interacting protein alpha 2							115.0	108.0	110.0					12																	81839439		1907	4125	6032	SO:0001589	frameshift_variant	8499							g.chr12:81839439delC	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.466delG	12.37:g.81839439delC	ENSP00000450337:p.Val157fs					PPFIA2_uc010sue.1_Frame_Shift_Del_p.V56fs|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA	p.V156fs	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN			6	627	-			82					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Frame_Shift_Del	DEL	ENST00000549396.1	37	c.466delG	CCDS55857.1																																																																																				0.428	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			27	45	NA	NA	NA	NA	27	45	---	---	---	---
RASGRF1	5923	broad.mit.edu	37	15	79292140	79292140	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr15:79292140delG	ENST00000419573.3	-	18	3013	c.2739delC	c.(2737-2739)gccfs	p.A913fs	RASGRF1_ENST00000558480.2_Frame_Shift_Del_p.A897fs|RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000394745.3_Frame_Shift_Del_p.A129fs	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	913					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TGCCCTCGTTGGCCCCGGCGG	0.582																																						uc002beq.2		NA																	0				skin(4)|ovary(1)|central_nervous_system(1)	6						c.(2737-2739)GCCfs		Ras protein-specific guanine							150.0	112.0	125.0					15																	79292140		2196	4293	6489	SO:0001589	frameshift_variant	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79292140delG	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.2739delC	15.37:g.79292140delG	ENSP00000405963:p.Ala913fs					RASGRF1_uc002bep.2_Frame_Shift_Del_p.A897fs|RASGRF1_uc010blm.1_Frame_Shift_Del_p.A822fs|RASGRF1_uc002ber.3_Frame_Shift_Del_p.A897fs|RASGRF1_uc010unh.1_Frame_Shift_Del_p.A308fs|RASGRF1_uc002beo.2_Frame_Shift_Del_p.A129fs	p.A913fs	NM_002891	NP_002882	Q13972	RGRF1_HUMAN			18	3114	-			915					F8VPA5|H0YKF2|J3KQP9|Q16027	Frame_Shift_Del	DEL	ENST00000419573.3	37	c.2739delC	CCDS10309.1																																																																																				0.582	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		30	187	NA	NA	NA	NA	30	187	---	---	---	---
MPP2	4355	broad.mit.edu	37	17	41959835	41959836	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:41959835_41959836delGC	ENST00000461854.1	-	7	654_655	c.569_570delGC	c.(568-570)cgcfs	p.R190fs	MPP2_ENST00000269095.4_Frame_Shift_Del_p.R166fs|MPP2_ENST00000520305.1_Frame_Shift_Del_p.R27fs|MPP2_ENST00000536246.1_Frame_Shift_Del_p.R155fs|MPP2_ENST00000523501.1_Frame_Shift_Del_p.R155fs|MPP2_ENST00000473246.1_5'UTR|MPP2_ENST00000377184.3_Frame_Shift_Del_p.R183fs|MPP2_ENST00000518766.1_Frame_Shift_Del_p.R211fs			Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	190	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		CATGCAGAATGCGCGCGATCAC	0.609																																						uc010wip.1		NA																	0					0						c.(631-633)CGCfs		palmitoylated membrane protein 2																																				SO:0001589	frameshift_variant	4355				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity	g.chr17:41959835_41959836delGC		CCDS11471.1, CCDS62206.1, CCDS62207.1, CCDS62208.1, CCDS62209.1, CCDS62210.1	17q12-q21	2008-07-18			ENSG00000108852	ENSG00000108852			7220	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 2"", ""discs large, homolog 2"""	600723		DLG2		7590743	Standard	NM_001278370		Approved	DKFZp761D0712	uc002ieo.1	Q14168	OTTHUMG00000133840	ENST00000461854.1:c.569_570delGC	17.37:g.41959839_41959840delGC	ENSP00000428286:p.Arg190fs					MPP2_uc002ien.1_Frame_Shift_Del_p.R183fs|MPP2_uc010wim.1_Frame_Shift_Del_p.R155fs|MPP2_uc002ieo.1_Frame_Shift_Del_p.R166fs|MPP2_uc010win.1_Frame_Shift_Del_p.R27fs|MPP2_uc010wio.1_Frame_Shift_Del_p.R155fs|MPP2_uc010czm.1_Frame_Shift_Del_p.R149fs	p.R211fs	NM_005374	NP_005365	Q14168	MPP2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.12)	6	689_690	-		Breast(137;0.00314)	190			PDZ.		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Frame_Shift_Del	DEL	ENST00000461854.1	37	c.632_633delGC																																																																																					0.609	MPP2-003	KNOWN	non_canonical_polymorphism|basic	protein_coding	protein_coding	OTTHUMT00000258388.2	NM_005374		44	77	NA	NA	NA	NA	44	77	---	---	---	---
ZNF224	7767	broad.mit.edu	37	19	44610618	44610618	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:44610618delA	ENST00000336976.6	+	6	559	c.305delA	c.(304-306)caafs	p.Q102fs	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	102					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				TCCTTCCAGCAAATCTGGGAA	0.418																																						uc002oyh.1		NA																	0				ovary(2)	2						c.(304-306)CAAfs		zinc finger protein 224							71.0	71.0	71.0					19																	44610618		2203	4300	6503	SO:0001589	frameshift_variant	7767				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding	g.chr19:44610618delA	AF187990	CCDS33046.1	19q13.2	2013-01-08	2004-02-13			ENSG00000267680		"""Zinc fingers, C2H2-type"", ""-"""	13017	protein-coding gene	gene with protein product		194555	"""zinc finger protein 255"", ""zinc finger protein 27"""	ZNF255, ZNF27			Standard	NM_013398		Approved	BMZF-2, KOX22	uc002oyh.2	Q9NZL3		ENST00000336976.6:c.305delA	19.37:g.44610618delA	ENSP00000337368:p.Gln102fs					uc002oyi.2_RNA	p.Q102fs	NM_013398	NP_037530	Q9NZL3	ZN224_HUMAN			6	607	+		Prostate(69;0.0435)	102					A6NFW9|P17033|Q86V10|Q8IZC8|Q9UID9|Q9Y2P6	Frame_Shift_Del	DEL	ENST00000336976.6	37	c.305delA	CCDS33046.1																																																																																				0.418	ZNF224-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460477.1	NM_013398		44	75	NA	NA	NA	NA	44	75	---	---	---	---
PEX13	5194	broad.mit.edu	37	2	61275876	61275876	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:61275876delG	ENST00000295030.5	+	4	1221	c.1183delG	c.(1183-1185)gggfs	p.G395fs		NM_002618.3	NP_002609.1	Q92968	PEX13_HUMAN	peroxisomal biogenesis factor 13	395					cerebral cortex cell migration (GO:0021795)|fatty acid alpha-oxidation (GO:0001561)|locomotory behavior (GO:0007626)|microtubule-based peroxisome localization (GO:0060152)|neuron migration (GO:0001764)|protein import into peroxisome matrix, docking (GO:0016560)|suckling behavior (GO:0001967)	integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)				endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114)			TGATTCCATTGGGAAAGATGG	0.358																																						uc002sau.3		NA																	0				skin(1)	1						c.(1183-1185)GGGfs		peroxisomal biogenesis factor 13							75.0	76.0	75.0					2																	61275876		2203	4300	6503	SO:0001589	frameshift_variant	5194				cerebral cortex cell migration|fatty acid alpha-oxidation|locomotory behavior|microtubule-based peroxisome localization|neuron migration|protein import into peroxisome matrix, docking|suckling behavior	integral to peroxisomal membrane|membrane fraction	protein binding	g.chr2:61275876delG	U71374	CCDS1866.1	2p16.1	2008-08-26	2008-08-26		ENSG00000162928	ENSG00000162928			8855	protein-coding gene	gene with protein product		601789	"""peroxisome biogenesis factor 13"""			9878256	Standard	NM_002618		Approved		uc002sau.4	Q92968	OTTHUMG00000129422	ENST00000295030.5:c.1183delG	2.37:g.61275876delG	ENSP00000295030:p.Gly395fs						p.G395fs	NM_002618	NP_002609	Q92968	PEX13_HUMAN	LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114)		4	1266	+			395			Cytoplasmic (Potential).		B2RCS1	Frame_Shift_Del	DEL	ENST00000295030.5	37	c.1183delG	CCDS1866.1																																																																																				0.358	PEX13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251581.3	NM_002618		33	121	NA	NA	NA	NA	33	121	---	---	---	---
GAD1	2571	broad.mit.edu	37	2	171702239	171702240	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:171702239_171702240insG	ENST00000358196.3	+	9	1441_1442	c.891_892insG	c.(892-894)gggfs	p.G298fs		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	298					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						TAAAGAAAGCTGGGGCTGCACT	0.426																																						uc002ugi.2		NA																	0				ovary(1)	1						c.(889-894)GCTGGGfs		glutamate decarboxylase 1 isoform GAD67	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)																																			SO:0001589	frameshift_variant	2571				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr2:171702239_171702240insG		CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"""glutamate decarboxylase 1 (brain, 67kD)"""	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.895dupG	2.37:g.171702243_171702243dupG	ENSP00000350928:p.Gly298fs						p.A297fs	NM_000817	NP_000808	Q99259	DCE1_HUMAN			9	1313_1314	+			297_298					Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Frame_Shift_Ins	INS	ENST00000358196.3	37	c.891_892insG	CCDS2239.1																																																																																				0.426	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2			57	131	NA	NA	NA	NA	57	131	---	---	---	---
DSCAM	1826	broad.mit.edu	37	21	41516604	41516604	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr21:41516604delG	ENST00000400454.1	-	17	3550	c.3073delC	c.(3073-3075)cgafs	p.R1025fs		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1025	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTGTACTCTCGGTAACCTATT	0.453																																					Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1		NA																	0				ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(3073-3075)CGAfs		Down syndrome cell adhesion molecule isoform							88.0	85.0	86.0					21																	41516604		1960	4158	6118	SO:0001589	frameshift_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41516604delG	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.3073delC	21.37:g.41516604delG	ENSP00000383303:p.Arg1025fs					DSCAM_uc002yyr.1_RNA	p.R1025fs	NM_001389	NP_001380	O60469	DSCAM_HUMAN			17	3525	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1025			Fibronectin type-III 2.|Extracellular (Potential).		O60468	Frame_Shift_Del	DEL	ENST00000400454.1	37	c.3073delC	CCDS42929.1																																																																																				0.453	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		39	82	NA	NA	NA	NA	39	82	---	---	---	---
RFC4	5984	broad.mit.edu	37	3	186512478	186512478	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:186512478delC	ENST00000392481.2	-	5	660	c.379delG	c.(379-381)gctfs	p.A127fs	RFC4_ENST00000433496.1_Frame_Shift_Del_p.A127fs|RFC4_ENST00000296273.2_Frame_Shift_Del_p.A127fs	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	127					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		GTTAATTGAGCAAAATTTTTC	0.373																																						uc003fqz.2		NA																	0				breast(2)|upper_aerodigestive_tract(1)|ovary(1)|large_intestine(1)	5						c.(379-381)GCTfs		replication factor C 4							142.0	138.0	139.0					3																	186512478		2203	4300	6503	SO:0001589	frameshift_variant	5984				cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	g.chr3:186512478delC		CCDS3283.1	3q27	2010-04-21	2002-08-29		ENSG00000163918	ENSG00000163918		"""ATPases / AAA-type"""	9972	protein-coding gene	gene with protein product	"""A1 37 kDa subunit"", ""activator 1 37 kDa subunit"", ""RFC 37 kDa subunit"""	102577	"""replication factor C (activator 1) 4 (37kD)"""			7774928	Standard	NM_181573		Approved	A1, RFC37	uc003fqz.3	P35249	OTTHUMG00000156515	ENST00000392481.2:c.379delG	3.37:g.186512478delC	ENSP00000376272:p.Ala127fs					RFC4_uc011bsc.1_Frame_Shift_Del_p.A127fs|RFC4_uc011bsd.1_Frame_Shift_Del_p.A127fs	p.A127fs	NM_002916	NP_002907	P35249	RFC4_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)	5	602	-	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		127					B4DM41|D3DNV2|Q6FHX7	Frame_Shift_Del	DEL	ENST00000392481.2	37	c.379delG	CCDS3283.1																																																																																				0.373	RFC4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344471.1	NM_002916		19	155	NA	NA	NA	NA	19	155	---	---	---	---
GABRG1	2565	broad.mit.edu	37	4	46060593	46060593	+	Frame_Shift_Del	DEL	G	G	-	rs139684526	byFrequency	TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:46060593delG	ENST00000295452.4	-	6	839	c.672delC	c.(670-672)tccfs	p.S224fs		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	224					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)	CCACTTCTACGGAGGGCTTTT	0.353																																						uc003gxb.2		NA																	0				ovary(2)	2						c.(670-672)TCCfs		gamma-aminobutyric acid A receptor, gamma 1							71.0	70.0	70.0					4																	46060593		2203	4300	6503	SO:0001589	frameshift_variant	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46060593delG	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.672delC	4.37:g.46060593delG	ENSP00000295452:p.Ser224fs						p.S224fs	NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	6	824	-			224			Extracellular (Probable).		Q5H9T8	Frame_Shift_Del	DEL	ENST00000295452.4	37	c.672delC	CCDS3470.1																																																																																				0.353	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		30	62	NA	NA	NA	NA	30	62	---	---	---	---
OTUD4	54726	broad.mit.edu	37	4	146071685	146071685	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:146071685delC	ENST00000447906.2	-	13	1426	c.1239delG	c.(1237-1239)cggfs	p.R413fs	OTUD4_ENST00000454497.2_Frame_Shift_Del_p.R348fs|OTUD4_ENST00000455611.2_5'UTR|Y_RNA_ENST00000459374.1_RNA			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	413					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					GTGAAGGTGTCCGGCTAAGAT	0.398																																						uc003ika.3		NA																	0				ovary(2)|breast(1)	3						c.(1042-1044)CGGfs		OTU domain containing 4 protein isoform 3							127.0	114.0	118.0					4																	146071685		2203	4300	6503	SO:0001589	frameshift_variant	54726						protein binding	g.chr4:146071685delC		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.1239delG	4.37:g.146071685delC	ENSP00000395487:p.Arg413fs					OTUD4_uc003ijz.3_Frame_Shift_Del_p.R347fs	p.R348fs	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN			13	1182	-	all_hematologic(180;0.151)		412					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Frame_Shift_Del	DEL	ENST00000447906.2	37	c.1044delG																																																																																					0.398	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		20	241	NA	NA	NA	NA	20	241	---	---	---	---
PARK2	5071	broad.mit.edu	37	6	162683695	162683695	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:162683695delC	ENST00000366898.1	-	3	376	c.274delG	c.(274-276)gcgfs	p.A92fs	PARK2_ENST00000366897.1_Frame_Shift_Del_p.A92fs|PARK2_ENST00000338468.3_5'UTR|PARK2_ENST00000366894.1_Intron|PARK2_ENST00000366896.1_Intron|PARK2_ENST00000366892.1_Frame_Shift_Del_p.A92fs	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	92			A -> V (in PARK2).		adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CAGCCTCCCGCCGCGTTTCTG	0.582																																						uc003qtx.3		NA																	0				upper_aerodigestive_tract(1)	1						c.(274-276)GCGfs		parkin isoform 1							83.0	81.0	82.0					6																	162683695		2203	4300	6503	SO:0001589	frameshift_variant	5071				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:162683695delC		CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"""Parkinson disease"""	8607	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase"""	602544	"""Parkinson disease (autosomal recessive, juvenile) 2, parkin"", ""parkinson protein 2, E3 ubiquitin protein ligase (parkin)"""			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.274delG	6.37:g.162683695delC	ENSP00000355865:p.Ala92fs					PARK2_uc003qtv.3_RNA|PARK2_uc010kkd.2_Intron|PARK2_uc003qtw.3_5'UTR|PARK2_uc003qty.3_Frame_Shift_Del_p.A92fs|PARK2_uc003qtz.3_Intron|PARK2_uc010kke.1_Frame_Shift_Del_p.A92fs	p.A92fs	NM_004562	NP_004553	O60260	PRKN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)	3	408	-		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)	92		A -> V (in PARK2).			A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Frame_Shift_Del	DEL	ENST00000366898.1	37	c.274delG	CCDS5281.1																																																																																				0.582	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1			29	139	NA	NA	NA	NA	29	139	---	---	---	---
WRN	7486	broad.mit.edu	37	8	30958449	30958449	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:30958449delC	ENST00000298139.5	+	18	2315	c.2066delC	c.(2065-2067)tccfs	p.S689fs		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	689	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		AAGTTGGGCTCCCTAAAGACA	0.433			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	uc003xio.3		NA	yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Mis|N|F|S	Werner syndrome (RECQL2)			"""L, E, M, O"""		osteosarcoma|meningioma|others			0				ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7						c.(2065-2067)TCCfs	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner syndrome protein							92.0	84.0	87.0					8																	30958449		2203	4300	6503	SO:0001589	frameshift_variant	7486	Werner_syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30958449delC		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.2066delC	8.37:g.30958449delC	ENSP00000298139:p.Ser689fs					WRN_uc010lvk.2_Frame_Shift_Del_p.S156fs	p.S689fs	NM_000553	NP_000544	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	18	2854	+		Breast(100;0.195)	689			Helicase ATP-binding.		A1KYY9	Frame_Shift_Del	DEL	ENST00000298139.5	37	c.2066delC	CCDS6082.1																																																																																				0.433	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			23	23	NA	NA	NA	NA	23	23	---	---	---	---
PREX2	80243	broad.mit.edu	37	8	69129909	69129909	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:69129909delC	ENST00000288368.4	+	38	4940	c.4663delC	c.(4663-4665)ccafs	p.P1556fs		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1556					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CCACGGACTGCCACCTCGTTA	0.552																																						uc003xxv.1		NA																	0				skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						c.(4663-4665)CCAfs		DEP domain containing 2 isoform a							138.0	100.0	113.0					8																	69129909		2203	4300	6503	SO:0001589	frameshift_variant	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:69129909delC	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.4663delC	8.37:g.69129909delC	ENSP00000288368:p.Pro1556fs						p.P1555fs	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN			38	4690	+			1555					B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Frame_Shift_Del	DEL	ENST00000288368.4	37	c.4663delC	CCDS6201.1																																																																																				0.552	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		19	82	NA	NA	NA	NA	19	82	---	---	---	---
SPATA31C1	441452	broad.mit.edu	37	9	90536403	90536403	+	RNA	DEL	G	G	-			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr9:90536403delG	ENST00000602681.1	+	0	1927							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GGCAAATTCTGGGTGAGACCC	0.577																																						uc010mqi.2		NA																	0					0						c.(1579-1581)CTGfs		family with sequence similarity 75, member C1							2.0	2.0	2.0					9																	90536403		557	1314	1871			441452							g.chr9:90536403delG	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"""family with sequence similarity 75, member C1"""	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90536403delG						FAM75C1_uc004apq.3_Frame_Shift_Del_p.L510fs	p.L527fs	NM_001145124	NP_001138596					4	1610	+									Frame_Shift_Del	DEL	ENST00000602681.1	37	c.1581delG																																																																																					0.577	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		62	62	NA	NA	NA	NA	62	62	---	---	---	---
UPF3B	65109	broad.mit.edu	37	X	118979179	118979180	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:118979179_118979180insT	ENST00000276201.2	-	4	519_520	c.450_451insA	c.(448-453)aaagtcfs	p.V151fs	UPF3B_ENST00000345865.2_Frame_Shift_Ins_p.V151fs|UPF3B_ENST00000478840.1_5'UTR	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	151	Necessary for interaction with UPF2.|Sufficient for association with EJC core.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						ATAGTCCCGACTTTGGTATCTC	0.342																																						uc004erz.1		NA																	0				ovary(2)|kidney(1)	3						c.(448-453)AAAGTCfs		UPF3 regulator of nonsense transcripts homolog B																																				SO:0001589	frameshift_variant	65109				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding	g.chrX:118979179_118979180insT	AF318576	CCDS14587.1, CCDS14588.1	Xq25-q26	2014-01-31			ENSG00000125351	ENSG00000125351			20439	protein-coding gene	gene with protein product		300298	"""mental retardation, X-linked 62"""	MRX62		11113196, 11163187, 19238151	Standard	NM_023010		Approved	RENT3B, UPF3X, HUPF3B	uc004erz.2	Q9BZI7	OTTHUMG00000022282	ENST00000276201.2:c.451dupA	X.37:g.118979182_118979182dupT	ENSP00000276201:p.Val151fs					UPF3B_uc004esa.1_Frame_Shift_Ins_p.K150fs	p.K150fs	NM_080632	NP_542199	Q9BZI7	REN3B_HUMAN			4	527_528	-			150_151			Sufficient for association with EJC core.|Necessary for interaction with UPF2.		D3DWI3|D3DWI4|Q0VAK8|Q9H1J0	Frame_Shift_Ins	INS	ENST00000276201.2	37	c.450_451insA	CCDS14588.1																																																																																				0.342	UPF3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058068.1			37	66	NA	NA	NA	NA	37	66	---	---	---	---
